Name: rs71172076
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.

rs71172076

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:12353515-12353538 (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)₁₅ / del(A)₁₁ / del(A)₁₀ / d…
del(A)₁₅ / 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)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₅ / dup(A)₁₉ / ins(A)₂₆ / ins(A)₂₇ / ins(A)₃₀ / ins(A)₃₁ / ins(A)₃₂ / ins(A)₃₃ / insAAG(A)₂₉ / insG(A)₄₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₁=0.000008 (2/264690, TOPMED)
del(A)₁₅=0.000 (0/624, ALFA)
del(A)₁₁=0.000 (0/624, ALFA) (+ 14 more)
del(A)₁₀=0.000 (0/624, ALFA)
del(A)₉=0.000 (0/624, ALFA)
del(A)₈=0.000 (0/624, ALFA)
del(A)₇=0.000 (0/624, ALFA)
del(A)₆=0.000 (0/624, ALFA)
del(A)₅=0.000 (0/624, ALFA)
del(A)₄=0.000 (0/624, ALFA)
delAAA=0.000 (0/624, ALFA)
delAA=0.000 (0/624, ALFA)
delA=0.000 (0/624, ALFA)
dupA=0.000 (0/624, ALFA)
dupAA=0.000 (0/624, ALFA)
dupAAA=0.000 (0/624, ALFA)
dup(A)₄=0.000 (0/624, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AFG3L2 : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	624	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	228	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	324	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	312	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	28	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(A)₂₄=0.999992	del(A)₁₁=0.000008
Allele Frequency Aggregator	Total	Global	624	(A)₂₄=1.000	del(A)₁₅=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
Allele Frequency Aggregator	African	Sub	324	(A)₂₄=1.000	del(A)₁₅=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
Allele Frequency Aggregator	European	Sub	228	(A)₂₄=1.000	del(A)₁₅=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
Allele Frequency Aggregator	Latin American 2	Sub	30	(A)₂₄=1.00	del(A)₁₅=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
Allele Frequency Aggregator	Other	Sub	28	(A)₂₄=1.00	del(A)₁₅=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
Allele Frequency Aggregator	Asian	Sub	8	(A)₂₄=1.0	del(A)₁₅=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	6	(A)₂₄=1.0	del(A)₁₅=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₄=0	del(A)₁₅=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0

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 18	NC_000018.10:g.12353524_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353528_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353529_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353530_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353531_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353532_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353533_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353534_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353535_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353536_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353537_12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353538del
GRCh38.p14 chr 18	NC_000018.10:g.12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353537_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353536_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353535_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353534_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353531_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353530_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353529_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353528_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353527_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353526_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353524_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353520_12353538dup
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18	NC_000018.10:g.12353515_12353538A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 18	NC_000018.10:g.12353515_12353538A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18	NC_000018.9:g.12353523_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353527_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353528_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353529_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353530_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353531_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353532_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353533_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353534_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353535_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353536_12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353537del
GRCh37.p13 chr 18	NC_000018.9:g.12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353536_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353535_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353534_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353533_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353530_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353529_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353528_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353527_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353526_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353525_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353523_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353519_12353537dup
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18	NC_000018.9:g.12353514_12353537A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18	NC_000018.9:g.12353514_12353537A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28748_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28752_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28753_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28754_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28755_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28756_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28757_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28758_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28759_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28760_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28761_28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762del
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28761_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28760_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28759_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28758_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28755_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28754_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28753_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28752_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28751_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28750_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28748_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28744_28762dup
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28739_28762T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28739_28762T[49]CTTTTTTTTTTTTTTTTTTTTTTTT[1]

Gene: AFG3L2, AFG3 like matrix AAA peptidase subunit 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AFG3L2 transcript	NM_006796.3:c.1165-371_11… NM_006796.3:c.1165-371_1165-357del	N/A	Intron Variant
AFG3L2 transcript variant X1	XM_011525601.4:c.1165-371… XM_011525601.4:c.1165-371_1165-357del	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)₂₄=	del(A)₁₅	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)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃	dup(A)₁₅	dup(A)₁₉	ins(A)₂₆	ins(A)₂₇	ins(A)₃₀	ins(A)₃₁	ins(A)₃₂	ins(A)₃₃	insAAG(A)₂₉	insG(A)₄₉
GRCh38.p14 chr 18	NC_000018.10:g.12353515_12353538=	NC_000018.10:g.12353524_12353538del	NC_000018.10:g.12353528_12353538del	NC_000018.10:g.12353529_12353538del	NC_000018.10:g.12353530_12353538del	NC_000018.10:g.12353531_12353538del	NC_000018.10:g.12353532_12353538del	NC_000018.10:g.12353533_12353538del	NC_000018.10:g.12353534_12353538del	NC_000018.10:g.12353535_12353538del	NC_000018.10:g.12353536_12353538del	NC_000018.10:g.12353537_12353538del	NC_000018.10:g.12353538del	NC_000018.10:g.12353538dup	NC_000018.10:g.12353537_12353538dup	NC_000018.10:g.12353536_12353538dup	NC_000018.10:g.12353535_12353538dup	NC_000018.10:g.12353534_12353538dup	NC_000018.10:g.12353531_12353538dup	NC_000018.10:g.12353530_12353538dup	NC_000018.10:g.12353529_12353538dup	NC_000018.10:g.12353528_12353538dup	NC_000018.10:g.12353527_12353538dup	NC_000018.10:g.12353526_12353538dup	NC_000018.10:g.12353524_12353538dup	NC_000018.10:g.12353520_12353538dup	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353538_12353539insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:g.12353515_12353538A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]	NC_000018.10:g.12353515_12353538A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18	NC_000018.9:g.12353514_12353537=	NC_000018.9:g.12353523_12353537del	NC_000018.9:g.12353527_12353537del	NC_000018.9:g.12353528_12353537del	NC_000018.9:g.12353529_12353537del	NC_000018.9:g.12353530_12353537del	NC_000018.9:g.12353531_12353537del	NC_000018.9:g.12353532_12353537del	NC_000018.9:g.12353533_12353537del	NC_000018.9:g.12353534_12353537del	NC_000018.9:g.12353535_12353537del	NC_000018.9:g.12353536_12353537del	NC_000018.9:g.12353537del	NC_000018.9:g.12353537dup	NC_000018.9:g.12353536_12353537dup	NC_000018.9:g.12353535_12353537dup	NC_000018.9:g.12353534_12353537dup	NC_000018.9:g.12353533_12353537dup	NC_000018.9:g.12353530_12353537dup	NC_000018.9:g.12353529_12353537dup	NC_000018.9:g.12353528_12353537dup	NC_000018.9:g.12353527_12353537dup	NC_000018.9:g.12353526_12353537dup	NC_000018.9:g.12353525_12353537dup	NC_000018.9:g.12353523_12353537dup	NC_000018.9:g.12353519_12353537dup	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353537_12353538insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.9:g.12353514_12353537A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]	NC_000018.9:g.12353514_12353537A[24]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
AFG3L2 RefSeqGene (LRG_666)	NG_023361.1:g.28739_28762=	NG_023361.1:g.28748_28762del	NG_023361.1:g.28752_28762del	NG_023361.1:g.28753_28762del	NG_023361.1:g.28754_28762del	NG_023361.1:g.28755_28762del	NG_023361.1:g.28756_28762del	NG_023361.1:g.28757_28762del	NG_023361.1:g.28758_28762del	NG_023361.1:g.28759_28762del	NG_023361.1:g.28760_28762del	NG_023361.1:g.28761_28762del	NG_023361.1:g.28762del	NG_023361.1:g.28762dup	NG_023361.1:g.28761_28762dup	NG_023361.1:g.28760_28762dup	NG_023361.1:g.28759_28762dup	NG_023361.1:g.28758_28762dup	NG_023361.1:g.28755_28762dup	NG_023361.1:g.28754_28762dup	NG_023361.1:g.28753_28762dup	NG_023361.1:g.28752_28762dup	NG_023361.1:g.28751_28762dup	NG_023361.1:g.28750_28762dup	NG_023361.1:g.28748_28762dup	NG_023361.1:g.28744_28762dup	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28762_28763insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NG_023361.1:g.28739_28762T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NG_023361.1:g.28739_28762T[49]CTTTTTTTTTTTTTTTTTTTTTTTT[1]
AFG3L2 transcript	NM_006796.2:c.1165-357=	NM_006796.2:c.1165-371_1165-357del	NM_006796.2:c.1165-367_1165-357del	NM_006796.2:c.1165-366_1165-357del	NM_006796.2:c.1165-365_1165-357del	NM_006796.2:c.1165-364_1165-357del	NM_006796.2:c.1165-363_1165-357del	NM_006796.2:c.1165-362_1165-357del	NM_006796.2:c.1165-361_1165-357del	NM_006796.2:c.1165-360_1165-357del	NM_006796.2:c.1165-359_1165-357del	NM_006796.2:c.1165-358_1165-357del	NM_006796.2:c.1165-357del	NM_006796.2:c.1165-357dup	NM_006796.2:c.1165-358_1165-357dup	NM_006796.2:c.1165-359_1165-357dup	NM_006796.2:c.1165-360_1165-357dup	NM_006796.2:c.1165-361_1165-357dup	NM_006796.2:c.1165-364_1165-357dup	NM_006796.2:c.1165-365_1165-357dup	NM_006796.2:c.1165-366_1165-357dup	NM_006796.2:c.1165-367_1165-357dup	NM_006796.2:c.1165-368_1165-357dup	NM_006796.2:c.1165-369_1165-357dup	NM_006796.2:c.1165-371_1165-357dup	NM_006796.2:c.1165-375_1165-357dup	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT	NM_006796.2:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC
AFG3L2 transcript	NM_006796.3:c.1165-357=	NM_006796.3:c.1165-371_1165-357del	NM_006796.3:c.1165-367_1165-357del	NM_006796.3:c.1165-366_1165-357del	NM_006796.3:c.1165-365_1165-357del	NM_006796.3:c.1165-364_1165-357del	NM_006796.3:c.1165-363_1165-357del	NM_006796.3:c.1165-362_1165-357del	NM_006796.3:c.1165-361_1165-357del	NM_006796.3:c.1165-360_1165-357del	NM_006796.3:c.1165-359_1165-357del	NM_006796.3:c.1165-358_1165-357del	NM_006796.3:c.1165-357del	NM_006796.3:c.1165-357dup	NM_006796.3:c.1165-358_1165-357dup	NM_006796.3:c.1165-359_1165-357dup	NM_006796.3:c.1165-360_1165-357dup	NM_006796.3:c.1165-361_1165-357dup	NM_006796.3:c.1165-364_1165-357dup	NM_006796.3:c.1165-365_1165-357dup	NM_006796.3:c.1165-366_1165-357dup	NM_006796.3:c.1165-367_1165-357dup	NM_006796.3:c.1165-368_1165-357dup	NM_006796.3:c.1165-369_1165-357dup	NM_006796.3:c.1165-371_1165-357dup	NM_006796.3:c.1165-375_1165-357dup	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT	NM_006796.3:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC
AFG3L2 transcript variant X1	XM_011525601.4:c.1165-357=	XM_011525601.4:c.1165-371_1165-357del	XM_011525601.4:c.1165-367_1165-357del	XM_011525601.4:c.1165-366_1165-357del	XM_011525601.4:c.1165-365_1165-357del	XM_011525601.4:c.1165-364_1165-357del	XM_011525601.4:c.1165-363_1165-357del	XM_011525601.4:c.1165-362_1165-357del	XM_011525601.4:c.1165-361_1165-357del	XM_011525601.4:c.1165-360_1165-357del	XM_011525601.4:c.1165-359_1165-357del	XM_011525601.4:c.1165-358_1165-357del	XM_011525601.4:c.1165-357del	XM_011525601.4:c.1165-357dup	XM_011525601.4:c.1165-358_1165-357dup	XM_011525601.4:c.1165-359_1165-357dup	XM_011525601.4:c.1165-360_1165-357dup	XM_011525601.4:c.1165-361_1165-357dup	XM_011525601.4:c.1165-364_1165-357dup	XM_011525601.4:c.1165-365_1165-357dup	XM_011525601.4:c.1165-366_1165-357dup	XM_011525601.4:c.1165-367_1165-357dup	XM_011525601.4:c.1165-368_1165-357dup	XM_011525601.4:c.1165-369_1165-357dup	XM_011525601.4:c.1165-371_1165-357dup	XM_011525601.4:c.1165-375_1165-357dup	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTT	XM_011525601.4:c.1165-357_1165-356insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTC

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#.

61 SubSNP, 42 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95705744	Dec 05, 2013 (138)
2	HUMANGENOME_JCVI	ss96363303	Feb 13, 2009 (137)
3	PJP	ss294930851	May 09, 2011 (137)
4	SWEGEN	ss3016180146	Nov 08, 2017 (151)
5	MCHAISSO	ss3063884477	Jan 10, 2018 (151)
6	EVA_DECODE	ss3701247675	Jul 13, 2019 (153)
7	EVA_DECODE	ss3701247676	Jul 13, 2019 (153)
8	EVA_DECODE	ss3701247677	Jul 13, 2019 (153)
9	EVA_DECODE	ss3701247678	Jul 13, 2019 (153)
10	EVA_DECODE	ss3701247679	Jul 13, 2019 (153)
11	PACBIO	ss3788317562	Jul 13, 2019 (153)
12	EVA	ss3835068626	Apr 27, 2020 (154)
13	GNOMAD	ss4318347417	Apr 26, 2021 (155)
14	GNOMAD	ss4318347418	Apr 26, 2021 (155)
15	GNOMAD	ss4318347419	Apr 26, 2021 (155)
16	GNOMAD	ss4318347420	Apr 26, 2021 (155)
17	GNOMAD	ss4318347421	Apr 26, 2021 (155)
18	GNOMAD	ss4318347422	Apr 26, 2021 (155)
19	GNOMAD	ss4318347423	Apr 26, 2021 (155)
20	GNOMAD	ss4318347424	Apr 26, 2021 (155)
21	GNOMAD	ss4318347425	Apr 26, 2021 (155)
22	GNOMAD	ss4318347426	Apr 26, 2021 (155)
23	GNOMAD	ss4318347427	Apr 26, 2021 (155)
24	GNOMAD	ss4318347428	Apr 26, 2021 (155)
25	GNOMAD	ss4318347429	Apr 26, 2021 (155)
26	GNOMAD	ss4318347430	Apr 26, 2021 (155)
27	GNOMAD	ss4318347431	Apr 26, 2021 (155)
28	GNOMAD	ss4318347432	Apr 26, 2021 (155)
29	GNOMAD	ss4318347433	Apr 26, 2021 (155)
30	GNOMAD	ss4318347434	Apr 26, 2021 (155)
31	GNOMAD	ss4318347435	Apr 26, 2021 (155)
32	GNOMAD	ss4318347436	Apr 26, 2021 (155)
33	GNOMAD	ss4318347439	Apr 26, 2021 (155)
34	GNOMAD	ss4318347440	Apr 26, 2021 (155)
35	GNOMAD	ss4318347441	Apr 26, 2021 (155)
36	GNOMAD	ss4318347442	Apr 26, 2021 (155)
37	GNOMAD	ss4318347443	Apr 26, 2021 (155)
38	GNOMAD	ss4318347444	Apr 26, 2021 (155)
39	GNOMAD	ss4318347445	Apr 26, 2021 (155)
40	GNOMAD	ss4318347446	Apr 26, 2021 (155)
41	GNOMAD	ss4318347447	Apr 26, 2021 (155)
42	TOPMED	ss5049163400	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5224226294	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5224226295	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5224226296	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5224226297	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5224226298	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5224226299	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5304522004	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5304522005	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5304522006	Oct 16, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5304522007	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5497418121	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5497418122	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5497418123	Oct 16, 2022 (156)
56	SANFORD_IMAGENETICS	ss5660878913	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5781013092	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5781013093	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5781013094	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5781013095	Oct 16, 2022 (156)
61	EVA	ss5851971681	Oct 16, 2022 (156)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 518380869 (NC_000018.10:12353514::A 9729/74498) Row 518380870 (NC_000018.10:12353514::AA 103/74448) Row 518380871 (NC_000018.10:12353514::AAA 2761/74518)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
97	8.3KJPN Submission ignored due to conflicting rows: Row 82195601 (NC_000018.9:12353513:A: 6688/16502) Row 82195602 (NC_000018.9:12353513::A 2181/16502) Row 82195603 (NC_000018.9:12353513::AAA 211/16502)...	-	Apr 26, 2021 (155)
98	14KJPN Submission ignored due to conflicting rows: Row 114850196 (NC_000018.10:12353514:A: 12678/27940) Row 114850197 (NC_000018.10:12353514::A 3724/27940) Row 114850198 (NC_000018.10:12353514::AAA 345/27940)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 114850196 (NC_000018.10:12353514:A: 12678/27940) Row 114850197 (NC_000018.10:12353514::A 3724/27940) Row 114850198 (NC_000018.10:12353514::AAA 345/27940)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 114850196 (NC_000018.10:12353514:A: 12678/27940) Row 114850197 (NC_000018.10:12353514::A 3724/27940) Row 114850198 (NC_000018.10:12353514::AAA 345/27940)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 114850196 (NC_000018.10:12353514:A: 12678/27940) Row 114850197 (NC_000018.10:12353514::A 3724/27940) Row 114850198 (NC_000018.10:12353514::AAA 345/27940)...	-	Oct 16, 2022 (156)
102	TopMed	NC_000018.10 - 12353515	Apr 26, 2021 (155)
103	ALFA	NC_000018.10 - 12353515	Apr 26, 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).

Associated ID	History Updated (Build)
rs71369928	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
264709063, ss4318347447, ss5049163400	NC_000018.10:12353514:AAAAAAAAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4318347446	NC_000018.10:12353514:AAAAAAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4318347445	NC_000018.10:12353514:AAAAAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4318347444	NC_000018.10:12353514:AAAAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4318347443	NC_000018.10:12353514:AAAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4318347442	NC_000018.10:12353514:AAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3701247679, ss4318347441	NC_000018.10:12353514:AAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3016180146, ss5224226299	NC_000018.9:12353513:AA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347440, ss5304522007, ss5497418123	NC_000018.10:12353514:AA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247678	NC_000018.10:12353515:AA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss294930851	NC_000018.8:12343513:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3835068626, ss5224226294, ss5660878913	NC_000018.9:12353513:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347439, ss5497418121, ss5781013092	NC_000018.10:12353514:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247677	NC_000018.10:12353516:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss96363303	NT_010859.14:12343513:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95705744	NT_010859.14:12343536:A:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224226295	NC_000018.9:12353513::A	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347417, ss5304522004, ss5497418122, ss5781013093	NC_000018.10:12353514::A	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247676	NC_000018.10:12353517::A	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224226298	NC_000018.9:12353513::AA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347418, ss5304522005, ss5781013095, ss5851971681	NC_000018.10:12353514::AA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3788317562, ss5224226296	NC_000018.9:12353513::AAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347419, ss5304522006, ss5781013094	NC_000018.10:12353514::AAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3701247675	NC_000018.10:12353517::AAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5224226297	NC_000018.9:12353513::AAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347420	NC_000018.10:12353514::AAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
7544996431	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347421	NC_000018.10:12353514::AAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3063884477, ss4318347422	NC_000018.10:12353514::AAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347423	NC_000018.10:12353514::AAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347424	NC_000018.10:12353514::AAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347425	NC_000018.10:12353514::AAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347426	NC_000018.10:12353514::AAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347427	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347428	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347429	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347430	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347431	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347432	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347433	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347434	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347435	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4318347436	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000018.10:12353514::AAAAAAAAAAA… NC_000018.10:12353514::AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3272866022	NC_000018.10:12353514:AAAAA:	NC_000018.10:12353514:AAAAAAAAAAAA… NC_000018.10:12353514:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

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

No publications for rs71172076

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

rs71172076