Name: rs71123078
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs71123078

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:190240873-190240900 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₈ / del(A)₁₆ / del(A)₁₅ / d…
del(A)₁₈ / del(A)₁₆ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.000060 (16/264690, TOPMED)
del(A)₁₈=0.0000 (0/3588, ALFA)
del(A)₁₆=0.0000 (0/3588, ALFA) (+ 19 more)
del(A)₁₅=0.0000 (0/3588, ALFA)
del(A)₁₄=0.0000 (0/3588, ALFA)
del(A)₁₃=0.0000 (0/3588, ALFA)
del(A)₁₁=0.0000 (0/3588, ALFA)
del(A)₁₀=0.0000 (0/3588, ALFA)
del(A)₉=0.0000 (0/3588, ALFA)
del(A)₈=0.0000 (0/3588, ALFA)
del(A)₇=0.0000 (0/3588, ALFA)
del(A)₆=0.0000 (0/3588, ALFA)
del(A)₅=0.0000 (0/3588, ALFA)
del(A)₄=0.0000 (0/3588, ALFA)
delAAA=0.0000 (0/3588, ALFA)
delAA=0.0000 (0/3588, ALFA)
delA=0.0000 (0/3588, ALFA)
dupA=0.0000 (0/3588, ALFA)
dupAA=0.0000 (0/3588, ALFA)
dupAAA=0.0000 (0/3588, ALFA)
dup(A)₄=0.0000 (0/3588, ALFA)
dup(A)₇=0.0000 (0/3588, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRINP3 : Intron Variant
LOC105371659 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	3588	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	2518	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	786	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
African Others	Sub	24	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	762	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	12	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	N/A
Latin American 1	Sub	42	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 2	Sub	96	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
South Asian	Sub	22	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	110	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₂₈=0.999940	del(A)₁₁=0.000060
Allele Frequency Aggregator	Total	Global	3588	(A)₂₈=1.0000	del(A)₁₈=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	European	Sub	2518	(A)₂₈=1.0000	del(A)₁₈=0.0000, del(A)₁₆=0.0000, del(A)₁₅=0.0000, del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	African	Sub	786	(A)₂₈=1.000	del(A)₁₈=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Other	Sub	110	(A)₂₈=1.000	del(A)₁₈=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₇=0.000
Allele Frequency Aggregator	Latin American 2	Sub	96	(A)₂₈=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	Latin American 1	Sub	42	(A)₂₈=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	22	(A)₂₈=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	Asian	Sub	14	(A)₂₈=1.00	del(A)₁₈=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₇=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 1	NC_000001.11:g.190240883_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240885_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240886_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240887_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240888_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240890_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240891_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240892_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240893_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240894_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240895_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240896_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240897_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240898_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240899_190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240900del
GRCh38.p14 chr 1	NC_000001.11:g.190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240899_190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240898_190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240897_190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240896_190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240895_190240900dup
GRCh38.p14 chr 1	NC_000001.11:g.190240894_190240900dup
GRCh37.p13 chr 1	NC_000001.10:g.190210013_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210015_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210016_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210017_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210018_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210020_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210021_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210022_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210023_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210024_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210025_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210026_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210027_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210028_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210029_190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210030del
GRCh37.p13 chr 1	NC_000001.10:g.190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210029_190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210028_190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210027_190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210026_190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210025_190210030dup
GRCh37.p13 chr 1	NC_000001.10:g.190210024_190210030dup

Gene: BRINP3, BMP/retinoic acid inducible neural specific 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRINP3 transcript variant 2	NM_001317188.2:c.313-6413… NM_001317188.2:c.313-6413_313-6396del	N/A	Intron Variant
BRINP3 transcript variant 1	NM_199051.3:c.619-6413_61… NM_199051.3:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X5	XM_011509472.3:c.529-6413… XM_011509472.3:c.529-6413_529-6396del	N/A	Intron Variant
BRINP3 transcript variant X8	XM_011509475.3:c.490-6413… XM_011509475.3:c.490-6413_490-6396del	N/A	Intron Variant
BRINP3 transcript variant X9	XM_011509476.3:c.313-6413… XM_011509476.3:c.313-6413_313-6396del	N/A	Intron Variant
BRINP3 transcript variant X4	XM_017001125.2:c.619-6413… XM_017001125.2:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X2	XM_017001126.2:c.619-6413… XM_017001126.2:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X6	XM_017001127.2:c.529-6413… XM_017001127.2:c.529-6413_529-6396del	N/A	Intron Variant
BRINP3 transcript variant X7	XM_017001128.2:c.529-6413… XM_017001128.2:c.529-6413_529-6396del	N/A	Intron Variant
BRINP3 transcript variant X10	XM_017001129.2:c.313-6413… XM_017001129.2:c.313-6413_313-6396del	N/A	Intron Variant
BRINP3 transcript variant X11	XM_017001132.2:c.619-6413… XM_017001132.2:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X12	XM_017001133.2:c.619-6413… XM_017001133.2:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X1	XM_047419245.1:c.619-6413… XM_047419245.1:c.619-6413_619-6396del	N/A	Intron Variant
BRINP3 transcript variant X3	XM_047419250.1:c.619-6413… XM_047419250.1:c.619-6413_619-6396del	N/A	Intron Variant

Gene: LOC105371659, uncharacterized LOC105371659 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105371659 transcript variant X1	XR_007067044.1:n.	N/A	Intron Variant
LOC105371659 transcript variant X2	XR_922376.3:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₈=	del(A)₁₈	del(A)₁₆	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇
GRCh38.p14 chr 1	NC_000001.11:g.190240873_190240900=	NC_000001.11:g.190240883_190240900del	NC_000001.11:g.190240885_190240900del	NC_000001.11:g.190240886_190240900del	NC_000001.11:g.190240887_190240900del	NC_000001.11:g.190240888_190240900del	NC_000001.11:g.190240890_190240900del	NC_000001.11:g.190240891_190240900del	NC_000001.11:g.190240892_190240900del	NC_000001.11:g.190240893_190240900del	NC_000001.11:g.190240894_190240900del	NC_000001.11:g.190240895_190240900del	NC_000001.11:g.190240896_190240900del	NC_000001.11:g.190240897_190240900del	NC_000001.11:g.190240898_190240900del	NC_000001.11:g.190240899_190240900del	NC_000001.11:g.190240900del	NC_000001.11:g.190240900dup	NC_000001.11:g.190240899_190240900dup	NC_000001.11:g.190240898_190240900dup	NC_000001.11:g.190240897_190240900dup	NC_000001.11:g.190240896_190240900dup	NC_000001.11:g.190240895_190240900dup	NC_000001.11:g.190240894_190240900dup
GRCh37.p13 chr 1	NC_000001.10:g.190210003_190210030=	NC_000001.10:g.190210013_190210030del	NC_000001.10:g.190210015_190210030del	NC_000001.10:g.190210016_190210030del	NC_000001.10:g.190210017_190210030del	NC_000001.10:g.190210018_190210030del	NC_000001.10:g.190210020_190210030del	NC_000001.10:g.190210021_190210030del	NC_000001.10:g.190210022_190210030del	NC_000001.10:g.190210023_190210030del	NC_000001.10:g.190210024_190210030del	NC_000001.10:g.190210025_190210030del	NC_000001.10:g.190210026_190210030del	NC_000001.10:g.190210027_190210030del	NC_000001.10:g.190210028_190210030del	NC_000001.10:g.190210029_190210030del	NC_000001.10:g.190210030del	NC_000001.10:g.190210030dup	NC_000001.10:g.190210029_190210030dup	NC_000001.10:g.190210028_190210030dup	NC_000001.10:g.190210027_190210030dup	NC_000001.10:g.190210026_190210030dup	NC_000001.10:g.190210025_190210030dup	NC_000001.10:g.190210024_190210030dup
BRINP3 transcript variant 2	NM_001317188.2:c.313-6396=	NM_001317188.2:c.313-6413_313-6396del	NM_001317188.2:c.313-6411_313-6396del	NM_001317188.2:c.313-6410_313-6396del	NM_001317188.2:c.313-6409_313-6396del	NM_001317188.2:c.313-6408_313-6396del	NM_001317188.2:c.313-6406_313-6396del	NM_001317188.2:c.313-6405_313-6396del	NM_001317188.2:c.313-6404_313-6396del	NM_001317188.2:c.313-6403_313-6396del	NM_001317188.2:c.313-6402_313-6396del	NM_001317188.2:c.313-6401_313-6396del	NM_001317188.2:c.313-6400_313-6396del	NM_001317188.2:c.313-6399_313-6396del	NM_001317188.2:c.313-6398_313-6396del	NM_001317188.2:c.313-6397_313-6396del	NM_001317188.2:c.313-6396del	NM_001317188.2:c.313-6396dup	NM_001317188.2:c.313-6397_313-6396dup	NM_001317188.2:c.313-6398_313-6396dup	NM_001317188.2:c.313-6399_313-6396dup	NM_001317188.2:c.313-6400_313-6396dup	NM_001317188.2:c.313-6401_313-6396dup	NM_001317188.2:c.313-6402_313-6396dup
BRINP3 transcript	NM_199051.1:c.619-6396=	NM_199051.1:c.619-6413_619-6396del	NM_199051.1:c.619-6411_619-6396del	NM_199051.1:c.619-6410_619-6396del	NM_199051.1:c.619-6409_619-6396del	NM_199051.1:c.619-6408_619-6396del	NM_199051.1:c.619-6406_619-6396del	NM_199051.1:c.619-6405_619-6396del	NM_199051.1:c.619-6404_619-6396del	NM_199051.1:c.619-6403_619-6396del	NM_199051.1:c.619-6402_619-6396del	NM_199051.1:c.619-6401_619-6396del	NM_199051.1:c.619-6400_619-6396del	NM_199051.1:c.619-6399_619-6396del	NM_199051.1:c.619-6398_619-6396del	NM_199051.1:c.619-6397_619-6396del	NM_199051.1:c.619-6396del	NM_199051.1:c.619-6396dup	NM_199051.1:c.619-6397_619-6396dup	NM_199051.1:c.619-6398_619-6396dup	NM_199051.1:c.619-6399_619-6396dup	NM_199051.1:c.619-6400_619-6396dup	NM_199051.1:c.619-6401_619-6396dup	NM_199051.1:c.619-6402_619-6396dup
BRINP3 transcript variant 1	NM_199051.3:c.619-6396=	NM_199051.3:c.619-6413_619-6396del	NM_199051.3:c.619-6411_619-6396del	NM_199051.3:c.619-6410_619-6396del	NM_199051.3:c.619-6409_619-6396del	NM_199051.3:c.619-6408_619-6396del	NM_199051.3:c.619-6406_619-6396del	NM_199051.3:c.619-6405_619-6396del	NM_199051.3:c.619-6404_619-6396del	NM_199051.3:c.619-6403_619-6396del	NM_199051.3:c.619-6402_619-6396del	NM_199051.3:c.619-6401_619-6396del	NM_199051.3:c.619-6400_619-6396del	NM_199051.3:c.619-6399_619-6396del	NM_199051.3:c.619-6398_619-6396del	NM_199051.3:c.619-6397_619-6396del	NM_199051.3:c.619-6396del	NM_199051.3:c.619-6396dup	NM_199051.3:c.619-6397_619-6396dup	NM_199051.3:c.619-6398_619-6396dup	NM_199051.3:c.619-6399_619-6396dup	NM_199051.3:c.619-6400_619-6396dup	NM_199051.3:c.619-6401_619-6396dup	NM_199051.3:c.619-6402_619-6396dup
BRINP3 transcript variant X2	XM_005245117.1:c.619-6396=	XM_005245117.1:c.619-6413_619-6396del	XM_005245117.1:c.619-6411_619-6396del	XM_005245117.1:c.619-6410_619-6396del	XM_005245117.1:c.619-6409_619-6396del	XM_005245117.1:c.619-6408_619-6396del	XM_005245117.1:c.619-6406_619-6396del	XM_005245117.1:c.619-6405_619-6396del	XM_005245117.1:c.619-6404_619-6396del	XM_005245117.1:c.619-6403_619-6396del	XM_005245117.1:c.619-6402_619-6396del	XM_005245117.1:c.619-6401_619-6396del	XM_005245117.1:c.619-6400_619-6396del	XM_005245117.1:c.619-6399_619-6396del	XM_005245117.1:c.619-6398_619-6396del	XM_005245117.1:c.619-6397_619-6396del	XM_005245117.1:c.619-6396del	XM_005245117.1:c.619-6396dup	XM_005245117.1:c.619-6397_619-6396dup	XM_005245117.1:c.619-6398_619-6396dup	XM_005245117.1:c.619-6399_619-6396dup	XM_005245117.1:c.619-6400_619-6396dup	XM_005245117.1:c.619-6401_619-6396dup	XM_005245117.1:c.619-6402_619-6396dup
FAM5C transcript variant X2	XM_005245118.1:c.619-6396=	XM_005245118.1:c.619-6413_619-6396del	XM_005245118.1:c.619-6411_619-6396del	XM_005245118.1:c.619-6410_619-6396del	XM_005245118.1:c.619-6409_619-6396del	XM_005245118.1:c.619-6408_619-6396del	XM_005245118.1:c.619-6406_619-6396del	XM_005245118.1:c.619-6405_619-6396del	XM_005245118.1:c.619-6404_619-6396del	XM_005245118.1:c.619-6403_619-6396del	XM_005245118.1:c.619-6402_619-6396del	XM_005245118.1:c.619-6401_619-6396del	XM_005245118.1:c.619-6400_619-6396del	XM_005245118.1:c.619-6399_619-6396del	XM_005245118.1:c.619-6398_619-6396del	XM_005245118.1:c.619-6397_619-6396del	XM_005245118.1:c.619-6396del	XM_005245118.1:c.619-6396dup	XM_005245118.1:c.619-6397_619-6396dup	XM_005245118.1:c.619-6398_619-6396dup	XM_005245118.1:c.619-6399_619-6396dup	XM_005245118.1:c.619-6400_619-6396dup	XM_005245118.1:c.619-6401_619-6396dup	XM_005245118.1:c.619-6402_619-6396dup
BRINP3 transcript variant X3	XM_005245119.1:c.619-6396=	XM_005245119.1:c.619-6413_619-6396del	XM_005245119.1:c.619-6411_619-6396del	XM_005245119.1:c.619-6410_619-6396del	XM_005245119.1:c.619-6409_619-6396del	XM_005245119.1:c.619-6408_619-6396del	XM_005245119.1:c.619-6406_619-6396del	XM_005245119.1:c.619-6405_619-6396del	XM_005245119.1:c.619-6404_619-6396del	XM_005245119.1:c.619-6403_619-6396del	XM_005245119.1:c.619-6402_619-6396del	XM_005245119.1:c.619-6401_619-6396del	XM_005245119.1:c.619-6400_619-6396del	XM_005245119.1:c.619-6399_619-6396del	XM_005245119.1:c.619-6398_619-6396del	XM_005245119.1:c.619-6397_619-6396del	XM_005245119.1:c.619-6396del	XM_005245119.1:c.619-6396dup	XM_005245119.1:c.619-6397_619-6396dup	XM_005245119.1:c.619-6398_619-6396dup	XM_005245119.1:c.619-6399_619-6396dup	XM_005245119.1:c.619-6400_619-6396dup	XM_005245119.1:c.619-6401_619-6396dup	XM_005245119.1:c.619-6402_619-6396dup
BRINP3 transcript variant X4	XM_005245120.1:c.619-6396=	XM_005245120.1:c.619-6413_619-6396del	XM_005245120.1:c.619-6411_619-6396del	XM_005245120.1:c.619-6410_619-6396del	XM_005245120.1:c.619-6409_619-6396del	XM_005245120.1:c.619-6408_619-6396del	XM_005245120.1:c.619-6406_619-6396del	XM_005245120.1:c.619-6405_619-6396del	XM_005245120.1:c.619-6404_619-6396del	XM_005245120.1:c.619-6403_619-6396del	XM_005245120.1:c.619-6402_619-6396del	XM_005245120.1:c.619-6401_619-6396del	XM_005245120.1:c.619-6400_619-6396del	XM_005245120.1:c.619-6399_619-6396del	XM_005245120.1:c.619-6398_619-6396del	XM_005245120.1:c.619-6397_619-6396del	XM_005245120.1:c.619-6396del	XM_005245120.1:c.619-6396dup	XM_005245120.1:c.619-6397_619-6396dup	XM_005245120.1:c.619-6398_619-6396dup	XM_005245120.1:c.619-6399_619-6396dup	XM_005245120.1:c.619-6400_619-6396dup	XM_005245120.1:c.619-6401_619-6396dup	XM_005245120.1:c.619-6402_619-6396dup
FAM5C transcript variant X5	XM_005245121.1:c.313-6396=	XM_005245121.1:c.313-6413_313-6396del	XM_005245121.1:c.313-6411_313-6396del	XM_005245121.1:c.313-6410_313-6396del	XM_005245121.1:c.313-6409_313-6396del	XM_005245121.1:c.313-6408_313-6396del	XM_005245121.1:c.313-6406_313-6396del	XM_005245121.1:c.313-6405_313-6396del	XM_005245121.1:c.313-6404_313-6396del	XM_005245121.1:c.313-6403_313-6396del	XM_005245121.1:c.313-6402_313-6396del	XM_005245121.1:c.313-6401_313-6396del	XM_005245121.1:c.313-6400_313-6396del	XM_005245121.1:c.313-6399_313-6396del	XM_005245121.1:c.313-6398_313-6396del	XM_005245121.1:c.313-6397_313-6396del	XM_005245121.1:c.313-6396del	XM_005245121.1:c.313-6396dup	XM_005245121.1:c.313-6397_313-6396dup	XM_005245121.1:c.313-6398_313-6396dup	XM_005245121.1:c.313-6399_313-6396dup	XM_005245121.1:c.313-6400_313-6396dup	XM_005245121.1:c.313-6401_313-6396dup	XM_005245121.1:c.313-6402_313-6396dup
FAM5C transcript variant X6	XM_005245122.1:c.313-6396=	XM_005245122.1:c.313-6413_313-6396del	XM_005245122.1:c.313-6411_313-6396del	XM_005245122.1:c.313-6410_313-6396del	XM_005245122.1:c.313-6409_313-6396del	XM_005245122.1:c.313-6408_313-6396del	XM_005245122.1:c.313-6406_313-6396del	XM_005245122.1:c.313-6405_313-6396del	XM_005245122.1:c.313-6404_313-6396del	XM_005245122.1:c.313-6403_313-6396del	XM_005245122.1:c.313-6402_313-6396del	XM_005245122.1:c.313-6401_313-6396del	XM_005245122.1:c.313-6400_313-6396del	XM_005245122.1:c.313-6399_313-6396del	XM_005245122.1:c.313-6398_313-6396del	XM_005245122.1:c.313-6397_313-6396del	XM_005245122.1:c.313-6396del	XM_005245122.1:c.313-6396dup	XM_005245122.1:c.313-6397_313-6396dup	XM_005245122.1:c.313-6398_313-6396dup	XM_005245122.1:c.313-6399_313-6396dup	XM_005245122.1:c.313-6400_313-6396dup	XM_005245122.1:c.313-6401_313-6396dup	XM_005245122.1:c.313-6402_313-6396dup
BRINP3 transcript variant X7	XM_005245123.1:c.619-6396=	XM_005245123.1:c.619-6413_619-6396del	XM_005245123.1:c.619-6411_619-6396del	XM_005245123.1:c.619-6410_619-6396del	XM_005245123.1:c.619-6409_619-6396del	XM_005245123.1:c.619-6408_619-6396del	XM_005245123.1:c.619-6406_619-6396del	XM_005245123.1:c.619-6405_619-6396del	XM_005245123.1:c.619-6404_619-6396del	XM_005245123.1:c.619-6403_619-6396del	XM_005245123.1:c.619-6402_619-6396del	XM_005245123.1:c.619-6401_619-6396del	XM_005245123.1:c.619-6400_619-6396del	XM_005245123.1:c.619-6399_619-6396del	XM_005245123.1:c.619-6398_619-6396del	XM_005245123.1:c.619-6397_619-6396del	XM_005245123.1:c.619-6396del	XM_005245123.1:c.619-6396dup	XM_005245123.1:c.619-6397_619-6396dup	XM_005245123.1:c.619-6398_619-6396dup	XM_005245123.1:c.619-6399_619-6396dup	XM_005245123.1:c.619-6400_619-6396dup	XM_005245123.1:c.619-6401_619-6396dup	XM_005245123.1:c.619-6402_619-6396dup
BRINP3 transcript variant X5	XM_011509472.3:c.529-6396=	XM_011509472.3:c.529-6413_529-6396del	XM_011509472.3:c.529-6411_529-6396del	XM_011509472.3:c.529-6410_529-6396del	XM_011509472.3:c.529-6409_529-6396del	XM_011509472.3:c.529-6408_529-6396del	XM_011509472.3:c.529-6406_529-6396del	XM_011509472.3:c.529-6405_529-6396del	XM_011509472.3:c.529-6404_529-6396del	XM_011509472.3:c.529-6403_529-6396del	XM_011509472.3:c.529-6402_529-6396del	XM_011509472.3:c.529-6401_529-6396del	XM_011509472.3:c.529-6400_529-6396del	XM_011509472.3:c.529-6399_529-6396del	XM_011509472.3:c.529-6398_529-6396del	XM_011509472.3:c.529-6397_529-6396del	XM_011509472.3:c.529-6396del	XM_011509472.3:c.529-6396dup	XM_011509472.3:c.529-6397_529-6396dup	XM_011509472.3:c.529-6398_529-6396dup	XM_011509472.3:c.529-6399_529-6396dup	XM_011509472.3:c.529-6400_529-6396dup	XM_011509472.3:c.529-6401_529-6396dup	XM_011509472.3:c.529-6402_529-6396dup
BRINP3 transcript variant X8	XM_011509475.3:c.490-6396=	XM_011509475.3:c.490-6413_490-6396del	XM_011509475.3:c.490-6411_490-6396del	XM_011509475.3:c.490-6410_490-6396del	XM_011509475.3:c.490-6409_490-6396del	XM_011509475.3:c.490-6408_490-6396del	XM_011509475.3:c.490-6406_490-6396del	XM_011509475.3:c.490-6405_490-6396del	XM_011509475.3:c.490-6404_490-6396del	XM_011509475.3:c.490-6403_490-6396del	XM_011509475.3:c.490-6402_490-6396del	XM_011509475.3:c.490-6401_490-6396del	XM_011509475.3:c.490-6400_490-6396del	XM_011509475.3:c.490-6399_490-6396del	XM_011509475.3:c.490-6398_490-6396del	XM_011509475.3:c.490-6397_490-6396del	XM_011509475.3:c.490-6396del	XM_011509475.3:c.490-6396dup	XM_011509475.3:c.490-6397_490-6396dup	XM_011509475.3:c.490-6398_490-6396dup	XM_011509475.3:c.490-6399_490-6396dup	XM_011509475.3:c.490-6400_490-6396dup	XM_011509475.3:c.490-6401_490-6396dup	XM_011509475.3:c.490-6402_490-6396dup
BRINP3 transcript variant X9	XM_011509476.3:c.313-6396=	XM_011509476.3:c.313-6413_313-6396del	XM_011509476.3:c.313-6411_313-6396del	XM_011509476.3:c.313-6410_313-6396del	XM_011509476.3:c.313-6409_313-6396del	XM_011509476.3:c.313-6408_313-6396del	XM_011509476.3:c.313-6406_313-6396del	XM_011509476.3:c.313-6405_313-6396del	XM_011509476.3:c.313-6404_313-6396del	XM_011509476.3:c.313-6403_313-6396del	XM_011509476.3:c.313-6402_313-6396del	XM_011509476.3:c.313-6401_313-6396del	XM_011509476.3:c.313-6400_313-6396del	XM_011509476.3:c.313-6399_313-6396del	XM_011509476.3:c.313-6398_313-6396del	XM_011509476.3:c.313-6397_313-6396del	XM_011509476.3:c.313-6396del	XM_011509476.3:c.313-6396dup	XM_011509476.3:c.313-6397_313-6396dup	XM_011509476.3:c.313-6398_313-6396dup	XM_011509476.3:c.313-6399_313-6396dup	XM_011509476.3:c.313-6400_313-6396dup	XM_011509476.3:c.313-6401_313-6396dup	XM_011509476.3:c.313-6402_313-6396dup
BRINP3 transcript variant X4	XM_017001125.2:c.619-6396=	XM_017001125.2:c.619-6413_619-6396del	XM_017001125.2:c.619-6411_619-6396del	XM_017001125.2:c.619-6410_619-6396del	XM_017001125.2:c.619-6409_619-6396del	XM_017001125.2:c.619-6408_619-6396del	XM_017001125.2:c.619-6406_619-6396del	XM_017001125.2:c.619-6405_619-6396del	XM_017001125.2:c.619-6404_619-6396del	XM_017001125.2:c.619-6403_619-6396del	XM_017001125.2:c.619-6402_619-6396del	XM_017001125.2:c.619-6401_619-6396del	XM_017001125.2:c.619-6400_619-6396del	XM_017001125.2:c.619-6399_619-6396del	XM_017001125.2:c.619-6398_619-6396del	XM_017001125.2:c.619-6397_619-6396del	XM_017001125.2:c.619-6396del	XM_017001125.2:c.619-6396dup	XM_017001125.2:c.619-6397_619-6396dup	XM_017001125.2:c.619-6398_619-6396dup	XM_017001125.2:c.619-6399_619-6396dup	XM_017001125.2:c.619-6400_619-6396dup	XM_017001125.2:c.619-6401_619-6396dup	XM_017001125.2:c.619-6402_619-6396dup
BRINP3 transcript variant X2	XM_017001126.2:c.619-6396=	XM_017001126.2:c.619-6413_619-6396del	XM_017001126.2:c.619-6411_619-6396del	XM_017001126.2:c.619-6410_619-6396del	XM_017001126.2:c.619-6409_619-6396del	XM_017001126.2:c.619-6408_619-6396del	XM_017001126.2:c.619-6406_619-6396del	XM_017001126.2:c.619-6405_619-6396del	XM_017001126.2:c.619-6404_619-6396del	XM_017001126.2:c.619-6403_619-6396del	XM_017001126.2:c.619-6402_619-6396del	XM_017001126.2:c.619-6401_619-6396del	XM_017001126.2:c.619-6400_619-6396del	XM_017001126.2:c.619-6399_619-6396del	XM_017001126.2:c.619-6398_619-6396del	XM_017001126.2:c.619-6397_619-6396del	XM_017001126.2:c.619-6396del	XM_017001126.2:c.619-6396dup	XM_017001126.2:c.619-6397_619-6396dup	XM_017001126.2:c.619-6398_619-6396dup	XM_017001126.2:c.619-6399_619-6396dup	XM_017001126.2:c.619-6400_619-6396dup	XM_017001126.2:c.619-6401_619-6396dup	XM_017001126.2:c.619-6402_619-6396dup
BRINP3 transcript variant X6	XM_017001127.2:c.529-6396=	XM_017001127.2:c.529-6413_529-6396del	XM_017001127.2:c.529-6411_529-6396del	XM_017001127.2:c.529-6410_529-6396del	XM_017001127.2:c.529-6409_529-6396del	XM_017001127.2:c.529-6408_529-6396del	XM_017001127.2:c.529-6406_529-6396del	XM_017001127.2:c.529-6405_529-6396del	XM_017001127.2:c.529-6404_529-6396del	XM_017001127.2:c.529-6403_529-6396del	XM_017001127.2:c.529-6402_529-6396del	XM_017001127.2:c.529-6401_529-6396del	XM_017001127.2:c.529-6400_529-6396del	XM_017001127.2:c.529-6399_529-6396del	XM_017001127.2:c.529-6398_529-6396del	XM_017001127.2:c.529-6397_529-6396del	XM_017001127.2:c.529-6396del	XM_017001127.2:c.529-6396dup	XM_017001127.2:c.529-6397_529-6396dup	XM_017001127.2:c.529-6398_529-6396dup	XM_017001127.2:c.529-6399_529-6396dup	XM_017001127.2:c.529-6400_529-6396dup	XM_017001127.2:c.529-6401_529-6396dup	XM_017001127.2:c.529-6402_529-6396dup
BRINP3 transcript variant X7	XM_017001128.2:c.529-6396=	XM_017001128.2:c.529-6413_529-6396del	XM_017001128.2:c.529-6411_529-6396del	XM_017001128.2:c.529-6410_529-6396del	XM_017001128.2:c.529-6409_529-6396del	XM_017001128.2:c.529-6408_529-6396del	XM_017001128.2:c.529-6406_529-6396del	XM_017001128.2:c.529-6405_529-6396del	XM_017001128.2:c.529-6404_529-6396del	XM_017001128.2:c.529-6403_529-6396del	XM_017001128.2:c.529-6402_529-6396del	XM_017001128.2:c.529-6401_529-6396del	XM_017001128.2:c.529-6400_529-6396del	XM_017001128.2:c.529-6399_529-6396del	XM_017001128.2:c.529-6398_529-6396del	XM_017001128.2:c.529-6397_529-6396del	XM_017001128.2:c.529-6396del	XM_017001128.2:c.529-6396dup	XM_017001128.2:c.529-6397_529-6396dup	XM_017001128.2:c.529-6398_529-6396dup	XM_017001128.2:c.529-6399_529-6396dup	XM_017001128.2:c.529-6400_529-6396dup	XM_017001128.2:c.529-6401_529-6396dup	XM_017001128.2:c.529-6402_529-6396dup
BRINP3 transcript variant X10	XM_017001129.2:c.313-6396=	XM_017001129.2:c.313-6413_313-6396del	XM_017001129.2:c.313-6411_313-6396del	XM_017001129.2:c.313-6410_313-6396del	XM_017001129.2:c.313-6409_313-6396del	XM_017001129.2:c.313-6408_313-6396del	XM_017001129.2:c.313-6406_313-6396del	XM_017001129.2:c.313-6405_313-6396del	XM_017001129.2:c.313-6404_313-6396del	XM_017001129.2:c.313-6403_313-6396del	XM_017001129.2:c.313-6402_313-6396del	XM_017001129.2:c.313-6401_313-6396del	XM_017001129.2:c.313-6400_313-6396del	XM_017001129.2:c.313-6399_313-6396del	XM_017001129.2:c.313-6398_313-6396del	XM_017001129.2:c.313-6397_313-6396del	XM_017001129.2:c.313-6396del	XM_017001129.2:c.313-6396dup	XM_017001129.2:c.313-6397_313-6396dup	XM_017001129.2:c.313-6398_313-6396dup	XM_017001129.2:c.313-6399_313-6396dup	XM_017001129.2:c.313-6400_313-6396dup	XM_017001129.2:c.313-6401_313-6396dup	XM_017001129.2:c.313-6402_313-6396dup
BRINP3 transcript variant X11	XM_017001132.2:c.619-6396=	XM_017001132.2:c.619-6413_619-6396del	XM_017001132.2:c.619-6411_619-6396del	XM_017001132.2:c.619-6410_619-6396del	XM_017001132.2:c.619-6409_619-6396del	XM_017001132.2:c.619-6408_619-6396del	XM_017001132.2:c.619-6406_619-6396del	XM_017001132.2:c.619-6405_619-6396del	XM_017001132.2:c.619-6404_619-6396del	XM_017001132.2:c.619-6403_619-6396del	XM_017001132.2:c.619-6402_619-6396del	XM_017001132.2:c.619-6401_619-6396del	XM_017001132.2:c.619-6400_619-6396del	XM_017001132.2:c.619-6399_619-6396del	XM_017001132.2:c.619-6398_619-6396del	XM_017001132.2:c.619-6397_619-6396del	XM_017001132.2:c.619-6396del	XM_017001132.2:c.619-6396dup	XM_017001132.2:c.619-6397_619-6396dup	XM_017001132.2:c.619-6398_619-6396dup	XM_017001132.2:c.619-6399_619-6396dup	XM_017001132.2:c.619-6400_619-6396dup	XM_017001132.2:c.619-6401_619-6396dup	XM_017001132.2:c.619-6402_619-6396dup
BRINP3 transcript variant X12	XM_017001133.2:c.619-6396=	XM_017001133.2:c.619-6413_619-6396del	XM_017001133.2:c.619-6411_619-6396del	XM_017001133.2:c.619-6410_619-6396del	XM_017001133.2:c.619-6409_619-6396del	XM_017001133.2:c.619-6408_619-6396del	XM_017001133.2:c.619-6406_619-6396del	XM_017001133.2:c.619-6405_619-6396del	XM_017001133.2:c.619-6404_619-6396del	XM_017001133.2:c.619-6403_619-6396del	XM_017001133.2:c.619-6402_619-6396del	XM_017001133.2:c.619-6401_619-6396del	XM_017001133.2:c.619-6400_619-6396del	XM_017001133.2:c.619-6399_619-6396del	XM_017001133.2:c.619-6398_619-6396del	XM_017001133.2:c.619-6397_619-6396del	XM_017001133.2:c.619-6396del	XM_017001133.2:c.619-6396dup	XM_017001133.2:c.619-6397_619-6396dup	XM_017001133.2:c.619-6398_619-6396dup	XM_017001133.2:c.619-6399_619-6396dup	XM_017001133.2:c.619-6400_619-6396dup	XM_017001133.2:c.619-6401_619-6396dup	XM_017001133.2:c.619-6402_619-6396dup
BRINP3 transcript variant X1	XM_047419245.1:c.619-6396=	XM_047419245.1:c.619-6413_619-6396del	XM_047419245.1:c.619-6411_619-6396del	XM_047419245.1:c.619-6410_619-6396del	XM_047419245.1:c.619-6409_619-6396del	XM_047419245.1:c.619-6408_619-6396del	XM_047419245.1:c.619-6406_619-6396del	XM_047419245.1:c.619-6405_619-6396del	XM_047419245.1:c.619-6404_619-6396del	XM_047419245.1:c.619-6403_619-6396del	XM_047419245.1:c.619-6402_619-6396del	XM_047419245.1:c.619-6401_619-6396del	XM_047419245.1:c.619-6400_619-6396del	XM_047419245.1:c.619-6399_619-6396del	XM_047419245.1:c.619-6398_619-6396del	XM_047419245.1:c.619-6397_619-6396del	XM_047419245.1:c.619-6396del	XM_047419245.1:c.619-6396dup	XM_047419245.1:c.619-6397_619-6396dup	XM_047419245.1:c.619-6398_619-6396dup	XM_047419245.1:c.619-6399_619-6396dup	XM_047419245.1:c.619-6400_619-6396dup	XM_047419245.1:c.619-6401_619-6396dup	XM_047419245.1:c.619-6402_619-6396dup
BRINP3 transcript variant X3	XM_047419250.1:c.619-6396=	XM_047419250.1:c.619-6413_619-6396del	XM_047419250.1:c.619-6411_619-6396del	XM_047419250.1:c.619-6410_619-6396del	XM_047419250.1:c.619-6409_619-6396del	XM_047419250.1:c.619-6408_619-6396del	XM_047419250.1:c.619-6406_619-6396del	XM_047419250.1:c.619-6405_619-6396del	XM_047419250.1:c.619-6404_619-6396del	XM_047419250.1:c.619-6403_619-6396del	XM_047419250.1:c.619-6402_619-6396del	XM_047419250.1:c.619-6401_619-6396del	XM_047419250.1:c.619-6400_619-6396del	XM_047419250.1:c.619-6399_619-6396del	XM_047419250.1:c.619-6398_619-6396del	XM_047419250.1:c.619-6397_619-6396del	XM_047419250.1:c.619-6396del	XM_047419250.1:c.619-6396dup	XM_047419250.1:c.619-6397_619-6396dup	XM_047419250.1:c.619-6398_619-6396dup	XM_047419250.1:c.619-6399_619-6396dup	XM_047419250.1:c.619-6400_619-6396dup	XM_047419250.1:c.619-6401_619-6396dup	XM_047419250.1:c.619-6402_619-6396dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

41 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95249939	Feb 13, 2009 (130)
2	SWEGEN	ss2988149828	Nov 08, 2017 (151)
3	PACBIO	ss3789257060	Jul 12, 2019 (153)
4	PACBIO	ss3789257061	Jul 12, 2019 (153)
5	PACBIO	ss3794129216	Jul 12, 2019 (153)
6	PACBIO	ss3794129217	Jul 12, 2019 (153)
7	EVA	ss3826552279	Apr 25, 2020 (154)
8	GNOMAD	ss4008017223	Apr 25, 2021 (155)
9	GNOMAD	ss4008017224	Apr 25, 2021 (155)
10	GNOMAD	ss4008017225	Apr 25, 2021 (155)
11	GNOMAD	ss4008017226	Apr 25, 2021 (155)
12	GNOMAD	ss4008017227	Apr 25, 2021 (155)
13	GNOMAD	ss4008017228	Apr 25, 2021 (155)
14	GNOMAD	ss4008017229	Apr 25, 2021 (155)
15	GNOMAD	ss4008017230	Apr 25, 2021 (155)
16	GNOMAD	ss4008017231	Apr 25, 2021 (155)
17	GNOMAD	ss4008017232	Apr 25, 2021 (155)
18	GNOMAD	ss4008017233	Apr 25, 2021 (155)
19	GNOMAD	ss4008017234	Apr 25, 2021 (155)
20	GNOMAD	ss4008017235	Apr 25, 2021 (155)
21	GNOMAD	ss4008017236	Apr 25, 2021 (155)
22	GNOMAD	ss4008017237	Apr 25, 2021 (155)
23	GNOMAD	ss4008017238	Apr 25, 2021 (155)
24	GNOMAD	ss4008017239	Apr 25, 2021 (155)
25	GNOMAD	ss4008017240	Apr 25, 2021 (155)
26	TOPMED	ss4477046887	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5147594981	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5147594982	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5147594983	Apr 25, 2021 (155)
30	TOMMO_GENOMICS	ss5147594984	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5147594985	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5147594986	Apr 25, 2021 (155)
33	HUGCELL_USP	ss5445652561	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5445652562	Oct 12, 2022 (156)
35	SANFORD_IMAGENETICS	ss5627082572	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5675113250	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5675113251	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5675113252	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5675113253	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5675113254	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5675113255	Oct 12, 2022 (156)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34201859 (NC_000001.11:190240872::A 2700/36594) Row 34201860 (NC_000001.11:190240872::AA 1255/36608) Row 34201861 (NC_000001.11:190240872::AAAA 19/36618)...	-	Apr 25, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 5564288 (NC_000001.10:190210002::A 1152/15006) Row 5564289 (NC_000001.10:190210002:A: 2699/15006) Row 5564290 (NC_000001.10:190210002:AAAAAAAA: 8/15006)...	-	Apr 25, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 8950354 (NC_000001.11:190240872:A: 7975/27030) Row 8950355 (NC_000001.11:190240872::A 3316/27030) Row 8950356 (NC_000001.11:190240872::AA 178/27030)...	-	Oct 12, 2022 (156)
72	TopMed	NC_000001.11 - 190240873	Apr 25, 2021 (155)
73	ALFA	NC_000001.11 - 190240873	Apr 25, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4008017240	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4008017239	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5627082572	NC_000001.10:190210002:AAAAAAAAAAA… NC_000001.10:190210002:AAAAAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA
ss4008017238	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4008017237	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
40653222, ss4008017236, ss4477046887	NC_000001.11:190240872:AAAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4008017235	NC_000001.11:190240872:AAAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss2988149828	NC_000001.10:190210002:AAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4008017234	NC_000001.11:190240872:AAAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5147594983	NC_000001.10:190210002:AAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4008017233, ss5675113253	NC_000001.11:190240872:AAAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4008017232	NC_000001.11:190240872:AAAAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017231	NC_000001.11:190240872:AAAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017230	NC_000001.11:190240872:AAAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3789257060, ss3794129216, ss5147594984	NC_000001.10:190210002:AA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017229, ss5445652562, ss5675113254	NC_000001.11:190240872:AA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3789257061, ss3794129217, ss3826552279, ss5147594982	NC_000001.10:190210002:A:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017228, ss5445652561, ss5675113250	NC_000001.11:190240872:A:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95249939	NT_004487.19:41698671:A:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147594981	NC_000001.10:190210002::A	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017223, ss5675113251	NC_000001.11:190240872::A	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147594985	NC_000001.10:190210002::AA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017224, ss5675113252	NC_000001.11:190240872::AA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147594986	NC_000001.10:190210002::AAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5675113255	NC_000001.11:190240872::AAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017225	NC_000001.11:190240872::AAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017226	NC_000001.11:190240872::AAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4008017227	NC_000001.11:190240872::AAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
13375304801	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3098572647	NC_000001.11:190240872:AAA:	NC_000001.11:190240872:AAAAAAAAAAA… NC_000001.11:190240872:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs71123078

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs71123078