Name: rs56666915
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.

rs56666915

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:116694460-116694479 (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(T)₁₂ / del(T)₁₁ / del(T)₁₀ / d…
del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₄ / ins(T)₃₇
Variation Type: Indel Insertion and Deletion
Frequency: dup(T)₄=0.2704 (1659/6136, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ASTN2 : Intron Variant
TRIM32 : 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	6136	TTTTTTTTTTTTTTTTTTTT=0.6172	TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.2704, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0645, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0326, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0101, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.653997	0.217868	0.128135	32
European	Sub	5904	TTTTTTTTTTTTTTTTTTTT=0.6025	TTTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.2807, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0036, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0671, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0339, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0105, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.637931	0.227833	0.134236	32
African	Sub	86	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	86	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTT=0, TTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	56	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTT=0.0, TTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	68	TTTTTTTTTTTTTTTTTTTT=0.97	TTTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.03, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.970588	0.029412	0.0	19

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
Allele Frequency Aggregator	Total	Global	6136	(T)₂₀=0.6172	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₇=0.0018, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.2704, dup(T)₅=0.0645, dup(T)₆=0.0326, dup(T)₇=0.0101, dup(T)₈=0.0000, dup(T)₁₀=0.0034
Allele Frequency Aggregator	European	Sub	5904	(T)₂₀=0.6025	del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₉=0.0000, del(T)₇=0.0019, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.2807, dup(T)₅=0.0671, dup(T)₆=0.0339, dup(T)₇=0.0105, dup(T)₈=0.0000, dup(T)₁₀=0.0036
Allele Frequency Aggregator	African	Sub	86	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₀=0.00
Allele Frequency Aggregator	Other	Sub	68	(T)₂₀=0.97	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.03, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₀=0.00
Allele Frequency Aggregator	Latin American 2	Sub	56	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₀=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₂₀=1.00	del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₉=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₁₀=0.00
Allele Frequency Aggregator	South Asian	Sub	4	(T)₂₀=1.0	del(T)₁₂=0.0, del(T)₁₁=0.0, del(T)₉=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₇=0.0, dup(T)₈=0.0, dup(T)₁₀=0.0
Allele Frequency Aggregator	Asian	Sub	0	(T)₂₀=0	del(T)₁₂=0, del(T)₁₁=0, del(T)₉=0, del(T)₇=0, del(T)₆=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0, dup(T)₆=0, dup(T)₇=0, dup(T)₈=0, dup(T)₁₀=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 9	NC_000009.12:g.116694468_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694469_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694470_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694471_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694473_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694474_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694476_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694477_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694478_116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694479del
GRCh38.p14 chr 9	NC_000009.12:g.116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694478_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694477_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694476_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694475_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694474_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694473_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694472_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694471_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694470_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694469_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694468_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694467_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694466_116694479dup
GRCh38.p14 chr 9	NC_000009.12:g.116694479_116694480insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.119456747_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456748_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456749_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456750_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456752_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456753_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456755_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456756_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456757_119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456758del
GRCh37.p13 chr 9	NC_000009.11:g.119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456757_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456756_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456755_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456754_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456753_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456752_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456751_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456750_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456749_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456748_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456747_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456746_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456745_119456758dup
GRCh37.p13 chr 9	NC_000009.11:g.119456758_119456759insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASTN2 RefSeqGene	NG_021409.2:g.725587_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725588_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725589_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725590_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725592_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725593_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725595_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725596_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725597_725598del
ASTN2 RefSeqGene	NG_021409.2:g.725598del
ASTN2 RefSeqGene	NG_021409.2:g.725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725597_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725596_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725595_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725594_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725593_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725592_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725591_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725590_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725589_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725588_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725587_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725586_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725585_725598dup
ASTN2 RefSeqGene	NG_021409.2:g.725598_725599insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12167_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12168_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12169_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12170_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12172_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12173_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12175_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12176_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12177_12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12178del
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12177_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12176_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12175_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12174_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12173_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12172_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12171_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12170_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12169_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12168_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12167_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12166_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12165_12178dup
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12178_12179insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: TRIM32, tripartite motif containing 32 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TRIM32 transcript variant 2	NM_001099679.2:c.-78-3197… NM_001099679.2:c.-78-3197_-78-3186del	N/A	Intron Variant
TRIM32 transcript variant 3	NM_001379048.1:c.-142-290… NM_001379048.1:c.-142-2905_-142-2894del	N/A	Intron Variant
TRIM32 transcript variant 4	NM_001379049.1:c.-81-3194… NM_001379049.1:c.-81-3194_-81-3183del	N/A	Intron Variant
TRIM32 transcript variant 5	NM_001379050.1:c.-78-3197… NM_001379050.1:c.-78-3197_-78-3186del	N/A	Intron Variant
TRIM32 transcript variant 1	NM_012210.4:c.-81-3194_-8… NM_012210.4:c.-81-3194_-81-3183del	N/A	Intron Variant

Gene: ASTN2, astrotactin 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ASTN2 transcript variant 7	NM_001365068.1:c.2806+313… NM_001365068.1:c.2806+31300_2806+31311del	N/A	Intron Variant
ASTN2 transcript variant 8	NM_001365069.1:c.2794+313… NM_001365069.1:c.2794+31300_2794+31311del	N/A	Intron Variant
ASTN2 transcript variant 1	NM_014010.5:c.2653+31300_… NM_014010.5:c.2653+31300_2653+31311del	N/A	Intron Variant
ASTN2 transcript variant 5	NM_001184734.1:c.	N/A	Genic Upstream Transcript Variant
ASTN2 transcript variant 6	NM_001184735.1:c.	N/A	Genic Upstream Transcript Variant
ASTN2 transcript variant 2	NM_198186.3:c.	N/A	Genic Upstream Transcript Variant
ASTN2 transcript variant 3	NM_198187.3:c.	N/A	Genic Upstream Transcript Variant
ASTN2 transcript variant 4	NM_198188.2:c.	N/A	Genic Upstream Transcript 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	(T)₂₀=	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₃	dup(T)₁₄	ins(T)₃₇
GRCh38.p14 chr 9	NC_000009.12:g.116694460_116694479=	NC_000009.12:g.116694468_116694479del	NC_000009.12:g.116694469_116694479del	NC_000009.12:g.116694470_116694479del	NC_000009.12:g.116694471_116694479del	NC_000009.12:g.116694473_116694479del	NC_000009.12:g.116694474_116694479del	NC_000009.12:g.116694476_116694479del	NC_000009.12:g.116694477_116694479del	NC_000009.12:g.116694478_116694479del	NC_000009.12:g.116694479del	NC_000009.12:g.116694479dup	NC_000009.12:g.116694478_116694479dup	NC_000009.12:g.116694477_116694479dup	NC_000009.12:g.116694476_116694479dup	NC_000009.12:g.116694475_116694479dup	NC_000009.12:g.116694474_116694479dup	NC_000009.12:g.116694473_116694479dup	NC_000009.12:g.116694472_116694479dup	NC_000009.12:g.116694471_116694479dup	NC_000009.12:g.116694470_116694479dup	NC_000009.12:g.116694469_116694479dup	NC_000009.12:g.116694468_116694479dup	NC_000009.12:g.116694467_116694479dup	NC_000009.12:g.116694466_116694479dup	NC_000009.12:g.116694479_116694480insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 9	NC_000009.11:g.119456739_119456758=	NC_000009.11:g.119456747_119456758del	NC_000009.11:g.119456748_119456758del	NC_000009.11:g.119456749_119456758del	NC_000009.11:g.119456750_119456758del	NC_000009.11:g.119456752_119456758del	NC_000009.11:g.119456753_119456758del	NC_000009.11:g.119456755_119456758del	NC_000009.11:g.119456756_119456758del	NC_000009.11:g.119456757_119456758del	NC_000009.11:g.119456758del	NC_000009.11:g.119456758dup	NC_000009.11:g.119456757_119456758dup	NC_000009.11:g.119456756_119456758dup	NC_000009.11:g.119456755_119456758dup	NC_000009.11:g.119456754_119456758dup	NC_000009.11:g.119456753_119456758dup	NC_000009.11:g.119456752_119456758dup	NC_000009.11:g.119456751_119456758dup	NC_000009.11:g.119456750_119456758dup	NC_000009.11:g.119456749_119456758dup	NC_000009.11:g.119456748_119456758dup	NC_000009.11:g.119456747_119456758dup	NC_000009.11:g.119456746_119456758dup	NC_000009.11:g.119456745_119456758dup	NC_000009.11:g.119456758_119456759insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASTN2 RefSeqGene	NG_021409.2:g.725579_725598=	NG_021409.2:g.725587_725598del	NG_021409.2:g.725588_725598del	NG_021409.2:g.725589_725598del	NG_021409.2:g.725590_725598del	NG_021409.2:g.725592_725598del	NG_021409.2:g.725593_725598del	NG_021409.2:g.725595_725598del	NG_021409.2:g.725596_725598del	NG_021409.2:g.725597_725598del	NG_021409.2:g.725598del	NG_021409.2:g.725598dup	NG_021409.2:g.725597_725598dup	NG_021409.2:g.725596_725598dup	NG_021409.2:g.725595_725598dup	NG_021409.2:g.725594_725598dup	NG_021409.2:g.725593_725598dup	NG_021409.2:g.725592_725598dup	NG_021409.2:g.725591_725598dup	NG_021409.2:g.725590_725598dup	NG_021409.2:g.725589_725598dup	NG_021409.2:g.725588_725598dup	NG_021409.2:g.725587_725598dup	NG_021409.2:g.725586_725598dup	NG_021409.2:g.725585_725598dup	NG_021409.2:g.725598_725599insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TRIM32 RefSeqGene (LRG_211)	NG_011619.1:g.12159_12178=	NG_011619.1:g.12167_12178del	NG_011619.1:g.12168_12178del	NG_011619.1:g.12169_12178del	NG_011619.1:g.12170_12178del	NG_011619.1:g.12172_12178del	NG_011619.1:g.12173_12178del	NG_011619.1:g.12175_12178del	NG_011619.1:g.12176_12178del	NG_011619.1:g.12177_12178del	NG_011619.1:g.12178del	NG_011619.1:g.12178dup	NG_011619.1:g.12177_12178dup	NG_011619.1:g.12176_12178dup	NG_011619.1:g.12175_12178dup	NG_011619.1:g.12174_12178dup	NG_011619.1:g.12173_12178dup	NG_011619.1:g.12172_12178dup	NG_011619.1:g.12171_12178dup	NG_011619.1:g.12170_12178dup	NG_011619.1:g.12169_12178dup	NG_011619.1:g.12168_12178dup	NG_011619.1:g.12167_12178dup	NG_011619.1:g.12166_12178dup	NG_011619.1:g.12165_12178dup	NG_011619.1:g.12178_12179insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 2	NM_001099679.1:c.-78-3205=	NM_001099679.1:c.-78-3197_-78-3186del	NM_001099679.1:c.-78-3196_-78-3186del	NM_001099679.1:c.-78-3195_-78-3186del	NM_001099679.1:c.-78-3194_-78-3186del	NM_001099679.1:c.-78-3192_-78-3186del	NM_001099679.1:c.-78-3191_-78-3186del	NM_001099679.1:c.-78-3189_-78-3186del	NM_001099679.1:c.-78-3188_-78-3186del	NM_001099679.1:c.-78-3187_-78-3186del	NM_001099679.1:c.-78-3186del	NM_001099679.1:c.-78-3186dup	NM_001099679.1:c.-78-3187_-78-3186dup	NM_001099679.1:c.-78-3188_-78-3186dup	NM_001099679.1:c.-78-3189_-78-3186dup	NM_001099679.1:c.-78-3190_-78-3186dup	NM_001099679.1:c.-78-3191_-78-3186dup	NM_001099679.1:c.-78-3192_-78-3186dup	NM_001099679.1:c.-78-3193_-78-3186dup	NM_001099679.1:c.-78-3194_-78-3186dup	NM_001099679.1:c.-78-3195_-78-3186dup	NM_001099679.1:c.-78-3196_-78-3186dup	NM_001099679.1:c.-78-3197_-78-3186dup	NM_001099679.1:c.-78-3198_-78-3186dup	NM_001099679.1:c.-78-3199_-78-3186dup	NM_001099679.1:c.-78-3186_-78-3185insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 2	NM_001099679.2:c.-78-3205=	NM_001099679.2:c.-78-3197_-78-3186del	NM_001099679.2:c.-78-3196_-78-3186del	NM_001099679.2:c.-78-3195_-78-3186del	NM_001099679.2:c.-78-3194_-78-3186del	NM_001099679.2:c.-78-3192_-78-3186del	NM_001099679.2:c.-78-3191_-78-3186del	NM_001099679.2:c.-78-3189_-78-3186del	NM_001099679.2:c.-78-3188_-78-3186del	NM_001099679.2:c.-78-3187_-78-3186del	NM_001099679.2:c.-78-3186del	NM_001099679.2:c.-78-3186dup	NM_001099679.2:c.-78-3187_-78-3186dup	NM_001099679.2:c.-78-3188_-78-3186dup	NM_001099679.2:c.-78-3189_-78-3186dup	NM_001099679.2:c.-78-3190_-78-3186dup	NM_001099679.2:c.-78-3191_-78-3186dup	NM_001099679.2:c.-78-3192_-78-3186dup	NM_001099679.2:c.-78-3193_-78-3186dup	NM_001099679.2:c.-78-3194_-78-3186dup	NM_001099679.2:c.-78-3195_-78-3186dup	NM_001099679.2:c.-78-3196_-78-3186dup	NM_001099679.2:c.-78-3197_-78-3186dup	NM_001099679.2:c.-78-3198_-78-3186dup	NM_001099679.2:c.-78-3199_-78-3186dup	NM_001099679.2:c.-78-3186_-78-3185insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASTN2 transcript variant 7	NM_001365068.1:c.2806+31311=	NM_001365068.1:c.2806+31300_2806+31311del	NM_001365068.1:c.2806+31301_2806+31311del	NM_001365068.1:c.2806+31302_2806+31311del	NM_001365068.1:c.2806+31303_2806+31311del	NM_001365068.1:c.2806+31305_2806+31311del	NM_001365068.1:c.2806+31306_2806+31311del	NM_001365068.1:c.2806+31308_2806+31311del	NM_001365068.1:c.2806+31309_2806+31311del	NM_001365068.1:c.2806+31310_2806+31311del	NM_001365068.1:c.2806+31311del	NM_001365068.1:c.2806+31311dup	NM_001365068.1:c.2806+31310_2806+31311dup	NM_001365068.1:c.2806+31309_2806+31311dup	NM_001365068.1:c.2806+31308_2806+31311dup	NM_001365068.1:c.2806+31307_2806+31311dup	NM_001365068.1:c.2806+31306_2806+31311dup	NM_001365068.1:c.2806+31305_2806+31311dup	NM_001365068.1:c.2806+31304_2806+31311dup	NM_001365068.1:c.2806+31303_2806+31311dup	NM_001365068.1:c.2806+31302_2806+31311dup	NM_001365068.1:c.2806+31301_2806+31311dup	NM_001365068.1:c.2806+31300_2806+31311dup	NM_001365068.1:c.2806+31299_2806+31311dup	NM_001365068.1:c.2806+31298_2806+31311dup	NM_001365068.1:c.2806+31311_2806+31312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ASTN2 transcript variant 8	NM_001365069.1:c.2794+31311=	NM_001365069.1:c.2794+31300_2794+31311del	NM_001365069.1:c.2794+31301_2794+31311del	NM_001365069.1:c.2794+31302_2794+31311del	NM_001365069.1:c.2794+31303_2794+31311del	NM_001365069.1:c.2794+31305_2794+31311del	NM_001365069.1:c.2794+31306_2794+31311del	NM_001365069.1:c.2794+31308_2794+31311del	NM_001365069.1:c.2794+31309_2794+31311del	NM_001365069.1:c.2794+31310_2794+31311del	NM_001365069.1:c.2794+31311del	NM_001365069.1:c.2794+31311dup	NM_001365069.1:c.2794+31310_2794+31311dup	NM_001365069.1:c.2794+31309_2794+31311dup	NM_001365069.1:c.2794+31308_2794+31311dup	NM_001365069.1:c.2794+31307_2794+31311dup	NM_001365069.1:c.2794+31306_2794+31311dup	NM_001365069.1:c.2794+31305_2794+31311dup	NM_001365069.1:c.2794+31304_2794+31311dup	NM_001365069.1:c.2794+31303_2794+31311dup	NM_001365069.1:c.2794+31302_2794+31311dup	NM_001365069.1:c.2794+31301_2794+31311dup	NM_001365069.1:c.2794+31300_2794+31311dup	NM_001365069.1:c.2794+31299_2794+31311dup	NM_001365069.1:c.2794+31298_2794+31311dup	NM_001365069.1:c.2794+31311_2794+31312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TRIM32 transcript variant 3	NM_001379048.1:c.-142-2913=	NM_001379048.1:c.-142-2905_-142-2894del	NM_001379048.1:c.-142-2904_-142-2894del	NM_001379048.1:c.-142-2903_-142-2894del	NM_001379048.1:c.-142-2902_-142-2894del	NM_001379048.1:c.-142-2900_-142-2894del	NM_001379048.1:c.-142-2899_-142-2894del	NM_001379048.1:c.-142-2897_-142-2894del	NM_001379048.1:c.-142-2896_-142-2894del	NM_001379048.1:c.-142-2895_-142-2894del	NM_001379048.1:c.-142-2894del	NM_001379048.1:c.-142-2894dup	NM_001379048.1:c.-142-2895_-142-2894dup	NM_001379048.1:c.-142-2896_-142-2894dup	NM_001379048.1:c.-142-2897_-142-2894dup	NM_001379048.1:c.-142-2898_-142-2894dup	NM_001379048.1:c.-142-2899_-142-2894dup	NM_001379048.1:c.-142-2900_-142-2894dup	NM_001379048.1:c.-142-2901_-142-2894dup	NM_001379048.1:c.-142-2902_-142-2894dup	NM_001379048.1:c.-142-2903_-142-2894dup	NM_001379048.1:c.-142-2904_-142-2894dup	NM_001379048.1:c.-142-2905_-142-2894dup	NM_001379048.1:c.-142-2906_-142-2894dup	NM_001379048.1:c.-142-2907_-142-2894dup	NM_001379048.1:c.-142-2894_-142-2893insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 4	NM_001379049.1:c.-81-3202=	NM_001379049.1:c.-81-3194_-81-3183del	NM_001379049.1:c.-81-3193_-81-3183del	NM_001379049.1:c.-81-3192_-81-3183del	NM_001379049.1:c.-81-3191_-81-3183del	NM_001379049.1:c.-81-3189_-81-3183del	NM_001379049.1:c.-81-3188_-81-3183del	NM_001379049.1:c.-81-3186_-81-3183del	NM_001379049.1:c.-81-3185_-81-3183del	NM_001379049.1:c.-81-3184_-81-3183del	NM_001379049.1:c.-81-3183del	NM_001379049.1:c.-81-3183dup	NM_001379049.1:c.-81-3184_-81-3183dup	NM_001379049.1:c.-81-3185_-81-3183dup	NM_001379049.1:c.-81-3186_-81-3183dup	NM_001379049.1:c.-81-3187_-81-3183dup	NM_001379049.1:c.-81-3188_-81-3183dup	NM_001379049.1:c.-81-3189_-81-3183dup	NM_001379049.1:c.-81-3190_-81-3183dup	NM_001379049.1:c.-81-3191_-81-3183dup	NM_001379049.1:c.-81-3192_-81-3183dup	NM_001379049.1:c.-81-3193_-81-3183dup	NM_001379049.1:c.-81-3194_-81-3183dup	NM_001379049.1:c.-81-3195_-81-3183dup	NM_001379049.1:c.-81-3196_-81-3183dup	NM_001379049.1:c.-81-3183_-81-3182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 5	NM_001379050.1:c.-78-3205=	NM_001379050.1:c.-78-3197_-78-3186del	NM_001379050.1:c.-78-3196_-78-3186del	NM_001379050.1:c.-78-3195_-78-3186del	NM_001379050.1:c.-78-3194_-78-3186del	NM_001379050.1:c.-78-3192_-78-3186del	NM_001379050.1:c.-78-3191_-78-3186del	NM_001379050.1:c.-78-3189_-78-3186del	NM_001379050.1:c.-78-3188_-78-3186del	NM_001379050.1:c.-78-3187_-78-3186del	NM_001379050.1:c.-78-3186del	NM_001379050.1:c.-78-3186dup	NM_001379050.1:c.-78-3187_-78-3186dup	NM_001379050.1:c.-78-3188_-78-3186dup	NM_001379050.1:c.-78-3189_-78-3186dup	NM_001379050.1:c.-78-3190_-78-3186dup	NM_001379050.1:c.-78-3191_-78-3186dup	NM_001379050.1:c.-78-3192_-78-3186dup	NM_001379050.1:c.-78-3193_-78-3186dup	NM_001379050.1:c.-78-3194_-78-3186dup	NM_001379050.1:c.-78-3195_-78-3186dup	NM_001379050.1:c.-78-3196_-78-3186dup	NM_001379050.1:c.-78-3197_-78-3186dup	NM_001379050.1:c.-78-3198_-78-3186dup	NM_001379050.1:c.-78-3199_-78-3186dup	NM_001379050.1:c.-78-3186_-78-3185insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 1	NM_012210.3:c.-81-3202=	NM_012210.3:c.-81-3194_-81-3183del	NM_012210.3:c.-81-3193_-81-3183del	NM_012210.3:c.-81-3192_-81-3183del	NM_012210.3:c.-81-3191_-81-3183del	NM_012210.3:c.-81-3189_-81-3183del	NM_012210.3:c.-81-3188_-81-3183del	NM_012210.3:c.-81-3186_-81-3183del	NM_012210.3:c.-81-3185_-81-3183del	NM_012210.3:c.-81-3184_-81-3183del	NM_012210.3:c.-81-3183del	NM_012210.3:c.-81-3183dup	NM_012210.3:c.-81-3184_-81-3183dup	NM_012210.3:c.-81-3185_-81-3183dup	NM_012210.3:c.-81-3186_-81-3183dup	NM_012210.3:c.-81-3187_-81-3183dup	NM_012210.3:c.-81-3188_-81-3183dup	NM_012210.3:c.-81-3189_-81-3183dup	NM_012210.3:c.-81-3190_-81-3183dup	NM_012210.3:c.-81-3191_-81-3183dup	NM_012210.3:c.-81-3192_-81-3183dup	NM_012210.3:c.-81-3193_-81-3183dup	NM_012210.3:c.-81-3194_-81-3183dup	NM_012210.3:c.-81-3195_-81-3183dup	NM_012210.3:c.-81-3196_-81-3183dup	NM_012210.3:c.-81-3183_-81-3182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant 1	NM_012210.4:c.-81-3202=	NM_012210.4:c.-81-3194_-81-3183del	NM_012210.4:c.-81-3193_-81-3183del	NM_012210.4:c.-81-3192_-81-3183del	NM_012210.4:c.-81-3191_-81-3183del	NM_012210.4:c.-81-3189_-81-3183del	NM_012210.4:c.-81-3188_-81-3183del	NM_012210.4:c.-81-3186_-81-3183del	NM_012210.4:c.-81-3185_-81-3183del	NM_012210.4:c.-81-3184_-81-3183del	NM_012210.4:c.-81-3183del	NM_012210.4:c.-81-3183dup	NM_012210.4:c.-81-3184_-81-3183dup	NM_012210.4:c.-81-3185_-81-3183dup	NM_012210.4:c.-81-3186_-81-3183dup	NM_012210.4:c.-81-3187_-81-3183dup	NM_012210.4:c.-81-3188_-81-3183dup	NM_012210.4:c.-81-3189_-81-3183dup	NM_012210.4:c.-81-3190_-81-3183dup	NM_012210.4:c.-81-3191_-81-3183dup	NM_012210.4:c.-81-3192_-81-3183dup	NM_012210.4:c.-81-3193_-81-3183dup	NM_012210.4:c.-81-3194_-81-3183dup	NM_012210.4:c.-81-3195_-81-3183dup	NM_012210.4:c.-81-3196_-81-3183dup	NM_012210.4:c.-81-3183_-81-3182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASTN2 transcript variant 1	NM_014010.4:c.2653+31311=	NM_014010.4:c.2653+31300_2653+31311del	NM_014010.4:c.2653+31301_2653+31311del	NM_014010.4:c.2653+31302_2653+31311del	NM_014010.4:c.2653+31303_2653+31311del	NM_014010.4:c.2653+31305_2653+31311del	NM_014010.4:c.2653+31306_2653+31311del	NM_014010.4:c.2653+31308_2653+31311del	NM_014010.4:c.2653+31309_2653+31311del	NM_014010.4:c.2653+31310_2653+31311del	NM_014010.4:c.2653+31311del	NM_014010.4:c.2653+31311dup	NM_014010.4:c.2653+31310_2653+31311dup	NM_014010.4:c.2653+31309_2653+31311dup	NM_014010.4:c.2653+31308_2653+31311dup	NM_014010.4:c.2653+31307_2653+31311dup	NM_014010.4:c.2653+31306_2653+31311dup	NM_014010.4:c.2653+31305_2653+31311dup	NM_014010.4:c.2653+31304_2653+31311dup	NM_014010.4:c.2653+31303_2653+31311dup	NM_014010.4:c.2653+31302_2653+31311dup	NM_014010.4:c.2653+31301_2653+31311dup	NM_014010.4:c.2653+31300_2653+31311dup	NM_014010.4:c.2653+31299_2653+31311dup	NM_014010.4:c.2653+31298_2653+31311dup	NM_014010.4:c.2653+31311_2653+31312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ASTN2 transcript variant 1	NM_014010.5:c.2653+31311=	NM_014010.5:c.2653+31300_2653+31311del	NM_014010.5:c.2653+31301_2653+31311del	NM_014010.5:c.2653+31302_2653+31311del	NM_014010.5:c.2653+31303_2653+31311del	NM_014010.5:c.2653+31305_2653+31311del	NM_014010.5:c.2653+31306_2653+31311del	NM_014010.5:c.2653+31308_2653+31311del	NM_014010.5:c.2653+31309_2653+31311del	NM_014010.5:c.2653+31310_2653+31311del	NM_014010.5:c.2653+31311del	NM_014010.5:c.2653+31311dup	NM_014010.5:c.2653+31310_2653+31311dup	NM_014010.5:c.2653+31309_2653+31311dup	NM_014010.5:c.2653+31308_2653+31311dup	NM_014010.5:c.2653+31307_2653+31311dup	NM_014010.5:c.2653+31306_2653+31311dup	NM_014010.5:c.2653+31305_2653+31311dup	NM_014010.5:c.2653+31304_2653+31311dup	NM_014010.5:c.2653+31303_2653+31311dup	NM_014010.5:c.2653+31302_2653+31311dup	NM_014010.5:c.2653+31301_2653+31311dup	NM_014010.5:c.2653+31300_2653+31311dup	NM_014010.5:c.2653+31299_2653+31311dup	NM_014010.5:c.2653+31298_2653+31311dup	NM_014010.5:c.2653+31311_2653+31312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
TRIM32 transcript variant X1	XM_005251813.1:c.-81-3202=	XM_005251813.1:c.-81-3194_-81-3183del	XM_005251813.1:c.-81-3193_-81-3183del	XM_005251813.1:c.-81-3192_-81-3183del	XM_005251813.1:c.-81-3191_-81-3183del	XM_005251813.1:c.-81-3189_-81-3183del	XM_005251813.1:c.-81-3188_-81-3183del	XM_005251813.1:c.-81-3186_-81-3183del	XM_005251813.1:c.-81-3185_-81-3183del	XM_005251813.1:c.-81-3184_-81-3183del	XM_005251813.1:c.-81-3183del	XM_005251813.1:c.-81-3183dup	XM_005251813.1:c.-81-3184_-81-3183dup	XM_005251813.1:c.-81-3185_-81-3183dup	XM_005251813.1:c.-81-3186_-81-3183dup	XM_005251813.1:c.-81-3187_-81-3183dup	XM_005251813.1:c.-81-3188_-81-3183dup	XM_005251813.1:c.-81-3189_-81-3183dup	XM_005251813.1:c.-81-3190_-81-3183dup	XM_005251813.1:c.-81-3191_-81-3183dup	XM_005251813.1:c.-81-3192_-81-3183dup	XM_005251813.1:c.-81-3193_-81-3183dup	XM_005251813.1:c.-81-3194_-81-3183dup	XM_005251813.1:c.-81-3195_-81-3183dup	XM_005251813.1:c.-81-3196_-81-3183dup	XM_005251813.1:c.-81-3183_-81-3182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TRIM32 transcript variant X2	XM_005251814.1:c.-81-3202=	XM_005251814.1:c.-81-3194_-81-3183del	XM_005251814.1:c.-81-3193_-81-3183del	XM_005251814.1:c.-81-3192_-81-3183del	XM_005251814.1:c.-81-3191_-81-3183del	XM_005251814.1:c.-81-3189_-81-3183del	XM_005251814.1:c.-81-3188_-81-3183del	XM_005251814.1:c.-81-3186_-81-3183del	XM_005251814.1:c.-81-3185_-81-3183del	XM_005251814.1:c.-81-3184_-81-3183del	XM_005251814.1:c.-81-3183del	XM_005251814.1:c.-81-3183dup	XM_005251814.1:c.-81-3184_-81-3183dup	XM_005251814.1:c.-81-3185_-81-3183dup	XM_005251814.1:c.-81-3186_-81-3183dup	XM_005251814.1:c.-81-3187_-81-3183dup	XM_005251814.1:c.-81-3188_-81-3183dup	XM_005251814.1:c.-81-3189_-81-3183dup	XM_005251814.1:c.-81-3190_-81-3183dup	XM_005251814.1:c.-81-3191_-81-3183dup	XM_005251814.1:c.-81-3192_-81-3183dup	XM_005251814.1:c.-81-3193_-81-3183dup	XM_005251814.1:c.-81-3194_-81-3183dup	XM_005251814.1:c.-81-3195_-81-3183dup	XM_005251814.1:c.-81-3196_-81-3183dup	XM_005251814.1:c.-81-3183_-81-3182insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ASTN2 transcript variant X1	XM_005251844.1:c.2806+31311=	XM_005251844.1:c.2806+31300_2806+31311del	XM_005251844.1:c.2806+31301_2806+31311del	XM_005251844.1:c.2806+31302_2806+31311del	XM_005251844.1:c.2806+31303_2806+31311del	XM_005251844.1:c.2806+31305_2806+31311del	XM_005251844.1:c.2806+31306_2806+31311del	XM_005251844.1:c.2806+31308_2806+31311del	XM_005251844.1:c.2806+31309_2806+31311del	XM_005251844.1:c.2806+31310_2806+31311del	XM_005251844.1:c.2806+31311del	XM_005251844.1:c.2806+31311dup	XM_005251844.1:c.2806+31310_2806+31311dup	XM_005251844.1:c.2806+31309_2806+31311dup	XM_005251844.1:c.2806+31308_2806+31311dup	XM_005251844.1:c.2806+31307_2806+31311dup	XM_005251844.1:c.2806+31306_2806+31311dup	XM_005251844.1:c.2806+31305_2806+31311dup	XM_005251844.1:c.2806+31304_2806+31311dup	XM_005251844.1:c.2806+31303_2806+31311dup	XM_005251844.1:c.2806+31302_2806+31311dup	XM_005251844.1:c.2806+31301_2806+31311dup	XM_005251844.1:c.2806+31300_2806+31311dup	XM_005251844.1:c.2806+31299_2806+31311dup	XM_005251844.1:c.2806+31298_2806+31311dup	XM_005251844.1:c.2806+31311_2806+31312insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

65 SubSNP, 40 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PJP	ss295436905	May 09, 2011 (135)
2	SSMP	ss663895565	Apr 01, 2015 (144)
3	DDI	ss1536632969	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1706540955	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1706540956	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1706540958	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1706541347	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1706541350	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1706541352	Apr 01, 2015 (144)
10	SWEGEN	ss3005514435	Nov 08, 2017 (151)
11	SWEGEN	ss3005514436	Nov 08, 2017 (151)
12	SWEGEN	ss3005514437	Nov 08, 2017 (151)
13	EVA_DECODE	ss3724657429	Jul 13, 2019 (153)
14	EVA_DECODE	ss3724657430	Jul 13, 2019 (153)
15	EVA_DECODE	ss3724657431	Jul 13, 2019 (153)
16	EVA_DECODE	ss3724657432	Jul 13, 2019 (153)
17	EVA_DECODE	ss3724657433	Jul 13, 2019 (153)
18	PACBIO	ss3791711464	Jul 13, 2019 (153)
19	PACBIO	ss3796592968	Jul 13, 2019 (153)
20	EVA	ss3831837132	Apr 26, 2020 (154)
21	GNOMAD	ss4208584905	Apr 26, 2021 (155)
22	GNOMAD	ss4208584907	Apr 26, 2021 (155)
23	GNOMAD	ss4208584908	Apr 26, 2021 (155)
24	GNOMAD	ss4208584909	Apr 26, 2021 (155)
25	GNOMAD	ss4208584910	Apr 26, 2021 (155)
26	GNOMAD	ss4208584911	Apr 26, 2021 (155)
27	GNOMAD	ss4208584912	Apr 26, 2021 (155)
28	GNOMAD	ss4208584913	Apr 26, 2021 (155)
29	GNOMAD	ss4208584914	Apr 26, 2021 (155)
30	GNOMAD	ss4208584915	Apr 26, 2021 (155)
31	GNOMAD	ss4208584916	Apr 26, 2021 (155)
32	GNOMAD	ss4208584917	Apr 26, 2021 (155)
33	GNOMAD	ss4208584918	Apr 26, 2021 (155)
34	GNOMAD	ss4208584919	Apr 26, 2021 (155)
35	GNOMAD	ss4208584920	Apr 26, 2021 (155)
36	GNOMAD	ss4208584922	Apr 26, 2021 (155)
37	GNOMAD	ss4208584923	Apr 26, 2021 (155)
38	GNOMAD	ss4208584924	Apr 26, 2021 (155)
39	GNOMAD	ss4208584925	Apr 26, 2021 (155)
40	GNOMAD	ss4208584926	Apr 26, 2021 (155)
41	GNOMAD	ss4208584927	Apr 26, 2021 (155)
42	GNOMAD	ss4208584928	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5195076270	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5195076271	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5195076272	Apr 26, 2021 (155)
46	TOMMO_GENOMICS	ss5195076273	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5195076275	Apr 26, 2021 (155)
48	1000G_HIGH_COVERAGE	ss5282012132	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5282012133	Oct 16, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5282012134	Oct 16, 2022 (156)
51	1000G_HIGH_COVERAGE	ss5282012135	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5477897422	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5477897423	Oct 16, 2022 (156)
54	HUGCELL_USP	ss5477897424	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5477897425	Oct 16, 2022 (156)
56	HUGCELL_USP	ss5477897426	Oct 16, 2022 (156)
57	SANFORD_IMAGENETICS	ss5648172385	Oct 16, 2022 (156)
58	TOMMO_GENOMICS	ss5739539671	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5739539672	Oct 16, 2022 (156)
60	TOMMO_GENOMICS	ss5739539674	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5739539675	Oct 16, 2022 (156)
62	TOMMO_GENOMICS	ss5739539676	Oct 16, 2022 (156)
63	EVA	ss5829684420	Oct 16, 2022 (156)
64	EVA	ss5829684421	Oct 16, 2022 (156)
65	EVA	ss5829684422	Oct 16, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3298/3854) Row 26437113 (NC_000009.11:119456738::TTTTTT 278/3854) Row 26437114 (NC_000009.11:119456738::TTTTT 278/3854)	-	Oct 12, 2018 (152)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3298/3854) Row 26437113 (NC_000009.11:119456738::TTTTTT 278/3854) Row 26437114 (NC_000009.11:119456738::TTTTT 278/3854)	-	Oct 12, 2018 (152)
68	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3298/3854) Row 26437113 (NC_000009.11:119456738::TTTTTT 278/3854) Row 26437114 (NC_000009.11:119456738::TTTTT 278/3854)	-	Oct 12, 2018 (152)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 336240161 (NC_000009.12:116694459::T 259/83272) Row 336240163 (NC_000009.12:116694459::TT 7/83290) Row 336240164 (NC_000009.12:116694459::TTT 1547/83262)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 53045577 (NC_000009.11:119456738::TTTT 9656/16162) Row 53045578 (NC_000009.11:119456738::TTTTTT 172/16162) Row 53045579 (NC_000009.11:119456738::TTTTT 130/16162)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 53045577 (NC_000009.11:119456738::TTTT 9656/16162) Row 53045578 (NC_000009.11:119456738::TTTTTT 172/16162) Row 53045579 (NC_000009.11:119456738::TTTTT 130/16162)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 53045577 (NC_000009.11:119456738::TTTT 9656/16162) Row 53045578 (NC_000009.11:119456738::TTTTTT 172/16162) Row 53045579 (NC_000009.11:119456738::TTTTT 130/16162)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 53045577 (NC_000009.11:119456738::TTTT 9656/16162) Row 53045578 (NC_000009.11:119456738::TTTTTT 172/16162) Row 53045579 (NC_000009.11:119456738::TTTTT 130/16162)...	-	Apr 26, 2021 (155)
96	8.3KJPN Submission ignored due to conflicting rows: Row 53045577 (NC_000009.11:119456738::TTTT 9656/16162) Row 53045578 (NC_000009.11:119456738::TTTTTT 172/16162) Row 53045579 (NC_000009.11:119456738::TTTTT 130/16162)...	-	Apr 26, 2021 (155)
97	14KJPN Submission ignored due to conflicting rows: Row 73376775 (NC_000009.12:116694459::TTTT 14635/25940) Row 73376776 (NC_000009.12:116694459::TTTTT 114/25940) Row 73376778 (NC_000009.12:116694459:TTTTTTT: 86/25940)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 73376775 (NC_000009.12:116694459::TTTT 14635/25940) Row 73376776 (NC_000009.12:116694459::TTTTT 114/25940) Row 73376778 (NC_000009.12:116694459:TTTTTTT: 86/25940)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 73376775 (NC_000009.12:116694459::TTTT 14635/25940) Row 73376776 (NC_000009.12:116694459::TTTTT 114/25940) Row 73376778 (NC_000009.12:116694459:TTTTTTT: 86/25940)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 73376775 (NC_000009.12:116694459::TTTT 14635/25940) Row 73376776 (NC_000009.12:116694459::TTTTT 114/25940) Row 73376778 (NC_000009.12:116694459:TTTTTTT: 86/25940)...	-	Oct 16, 2022 (156)
101	14KJPN Submission ignored due to conflicting rows: Row 73376775 (NC_000009.12:116694459::TTTT 14635/25940) Row 73376776 (NC_000009.12:116694459::TTTTT 114/25940) Row 73376778 (NC_000009.12:116694459:TTTTTTT: 86/25940)...	-	Oct 16, 2022 (156)
102	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3165/3708) Row 26437113 (NC_000009.11:119456738::TTTTTT 242/3708) Row 26437114 (NC_000009.11:119456738::TTTTT 300/3708)	-	Oct 12, 2018 (152)
103	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3165/3708) Row 26437113 (NC_000009.11:119456738::TTTTTT 242/3708) Row 26437114 (NC_000009.11:119456738::TTTTT 300/3708)	-	Oct 12, 2018 (152)
104	UK 10K study - Twins Submission ignored due to conflicting rows: Row 26437112 (NC_000009.11:119456738::TTTT 3165/3708) Row 26437113 (NC_000009.11:119456738::TTTTTT 242/3708) Row 26437114 (NC_000009.11:119456738::TTTTT 300/3708)	-	Oct 12, 2018 (152)
105	ALFA	NC_000009.12 - 116694460	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)
rs147243909	Sep 17, 2011 (135)
rs397961520	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4208584928	NC_000009.12:116694459:TTTTTTTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4208584927	NC_000009.12:116694459:TTTTTTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4208584926	NC_000009.12:116694459:TTTTTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss5195076273	NC_000009.11:119456738:TTTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4208584925, ss5739539674	NC_000009.12:116694459:TTTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4208584924	NC_000009.12:116694459:TTTTTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5195076275	NC_000009.11:119456738:TTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4208584923, ss5739539676	NC_000009.12:116694459:TTT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4208584922	NC_000009.12:116694459:TT:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5648172385	NC_000009.11:119456738:T:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
ss5282012133, ss5477897425	NC_000009.12:116694459:T:	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4208584905	NC_000009.12:116694459::T	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3724657429, ss4208584907	NC_000009.12:116694459::TT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5829684420	NC_000009.11:119456738::TTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
ss3724657430, ss4208584908, ss5282012134, ss5477897426	NC_000009.12:116694459::TTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss295436905	NC_000009.10:118496560::TTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss663895565, ss1536632969, ss1706540955, ss1706541347, ss3005514435, ss3791711464, ss3796592968, ss5195076270, ss5829684421	NC_000009.11:119456738::TTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724657431, ss4208584909, ss5477897422, ss5739539671	NC_000009.12:116694459::TTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss1706540958, ss1706541352, ss3005514436, ss5195076272, ss5829684422	NC_000009.11:119456738::TTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724657432, ss4208584910, ss5477897423, ss5739539672	NC_000009.12:116694459::TTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss1706540956, ss1706541350, ss3005514437, ss5195076271	NC_000009.11:119456738::TTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3724657433, ss4208584911, ss5282012132, ss5477897424, ss5739539675	NC_000009.12:116694459::TTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3831837132	NC_000009.11:119456738::TTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584912	NC_000009.12:116694459::TTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584913	NC_000009.12:116694459::TTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584914	NC_000009.12:116694459::TTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584915, ss5282012135	NC_000009.12:116694459::TTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6096540878	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584916	NC_000009.12:116694459::TTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584917	NC_000009.12:116694459::TTTTTTTTTT… NC_000009.12:116694459::TTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584918	NC_000009.12:116694459::TTTTTTTTTT… NC_000009.12:116694459::TTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584919	NC_000009.12:116694459::TTTTTTTTTT… NC_000009.12:116694459::TTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4208584920	NC_000009.12:116694459::TTTTTTTTTT… NC_000009.12:116694459::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000009.12:116694459:TTTTTTTTTTT… NC_000009.12:116694459:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs56666915

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs56666915