Name: rs61240847
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.

rs61240847

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:202861402-202861428 (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)₁₇ / del(A)₁₅ / del(A)₁₄ / d…
del(A)₁₇ / del(A)₁₅ / del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / 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)₁₇ / ins(A)₂₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₇=0.000 (0/918, ALFA)
del(A)₁₅=0.000 (0/918, ALFA)
del(A)₁₄=0.000 (0/918, ALFA) (+ 19 more)
del(A)₁₃=0.000 (0/918, ALFA)
del(A)₁₂=0.000 (0/918, ALFA)
del(A)₁₁=0.000 (0/918, ALFA)
del(A)₁₀=0.000 (0/918, ALFA)
del(A)₉=0.000 (0/918, ALFA)
del(A)₈=0.000 (0/918, ALFA)
del(A)₇=0.000 (0/918, ALFA)
del(A)₆=0.000 (0/918, ALFA)
del(A)₅=0.000 (0/918, ALFA)
del(A)₄=0.000 (0/918, ALFA)
delAAA=0.000 (0/918, ALFA)
delAA=0.000 (0/918, ALFA)
delA=0.000 (0/918, ALFA)
dupA=0.000 (0/918, ALFA)
dupAA=0.000 (0/918, ALFA)
dupAAA=0.000 (0/918, ALFA)
dup(A)₄=0.000 (0/918, ALFA)
dup(A)₅=0.000 (0/918, ALFA)
dup(A)₁₀=0.000 (0/918, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ICA1L : 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	918	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	390	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	436	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	26	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	410	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	24	AAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	918	(A)₂₇=1.000	del(A)₁₇=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	African	Sub	436	(A)₂₇=1.000	del(A)₁₇=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	European	Sub	390	(A)₂₇=1.000	del(A)₁₇=0.000, del(A)₁₅=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₁₀=0.000
Allele Frequency Aggregator	Latin American 2	Sub	60	(A)₂₇=1.00	del(A)₁₇=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₁₀=0.00
Allele Frequency Aggregator	Other	Sub	24	(A)₂₇=1.00	del(A)₁₇=0.00, del(A)₁₅=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₁₀=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₂₇=1.0	del(A)₁₇=0.0, del(A)₁₅=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=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, dup(A)₅=0.0, dup(A)₁₀=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₇=0	del(A)₁₇=0, del(A)₁₅=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=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, dup(A)₅=0, dup(A)₁₀=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₇=0	del(A)₁₇=0, del(A)₁₅=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=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, dup(A)₅=0, dup(A)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 2	NC_000002.12:g.202861412_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861414_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861415_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861416_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861417_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861418_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861419_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861420_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861421_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861422_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861423_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861424_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861425_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861426_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861427_202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861428del
GRCh38.p14 chr 2	NC_000002.12:g.202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861427_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861426_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861425_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861424_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861421_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861420_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861419_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861412_202861428dup
GRCh38.p14 chr 2	NC_000002.12:g.202861428_202861429insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2	NC_000002.11:g.203726135_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726137_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726138_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726139_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726140_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726141_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726142_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726143_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726144_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726145_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726146_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726147_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726148_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726149_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726150_203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726151del
GRCh37.p13 chr 2	NC_000002.11:g.203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726150_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726149_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726148_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726147_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726144_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726143_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726142_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726135_203726151dup
GRCh37.p13 chr 2	NC_000002.11:g.203726151_203726152insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: ICA1L, islet cell autoantigen 1 like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ICA1L transcript variant 3	NM_001288622.3:c.-8+10201… NM_001288622.3:c.-8+10201_-8+10217del	N/A	Intron Variant
ICA1L transcript variant 4	NM_001288623.2:c.-8+9743_… NM_001288623.2:c.-8+9743_-8+9759del	N/A	Intron Variant
ICA1L transcript variant 1	NM_138468.7:c.-8+9112_-8+… NM_138468.7:c.-8+9112_-8+9128del	N/A	Intron Variant
ICA1L transcript variant 5	NM_001288624.2: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	(A)₂₇=	del(A)₁₇	del(A)₁₅	del(A)₁₄	del(A)₁₃	del(A)₁₂	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)₁₇	ins(A)₂₈
GRCh38.p14 chr 2	NC_000002.12:g.202861402_202861428=	NC_000002.12:g.202861412_202861428del	NC_000002.12:g.202861414_202861428del	NC_000002.12:g.202861415_202861428del	NC_000002.12:g.202861416_202861428del	NC_000002.12:g.202861417_202861428del	NC_000002.12:g.202861418_202861428del	NC_000002.12:g.202861419_202861428del	NC_000002.12:g.202861420_202861428del	NC_000002.12:g.202861421_202861428del	NC_000002.12:g.202861422_202861428del	NC_000002.12:g.202861423_202861428del	NC_000002.12:g.202861424_202861428del	NC_000002.12:g.202861425_202861428del	NC_000002.12:g.202861426_202861428del	NC_000002.12:g.202861427_202861428del	NC_000002.12:g.202861428del	NC_000002.12:g.202861428dup	NC_000002.12:g.202861427_202861428dup	NC_000002.12:g.202861426_202861428dup	NC_000002.12:g.202861425_202861428dup	NC_000002.12:g.202861424_202861428dup	NC_000002.12:g.202861421_202861428dup	NC_000002.12:g.202861420_202861428dup	NC_000002.12:g.202861419_202861428dup	NC_000002.12:g.202861412_202861428dup	NC_000002.12:g.202861428_202861429insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 2	NC_000002.11:g.203726125_203726151=	NC_000002.11:g.203726135_203726151del	NC_000002.11:g.203726137_203726151del	NC_000002.11:g.203726138_203726151del	NC_000002.11:g.203726139_203726151del	NC_000002.11:g.203726140_203726151del	NC_000002.11:g.203726141_203726151del	NC_000002.11:g.203726142_203726151del	NC_000002.11:g.203726143_203726151del	NC_000002.11:g.203726144_203726151del	NC_000002.11:g.203726145_203726151del	NC_000002.11:g.203726146_203726151del	NC_000002.11:g.203726147_203726151del	NC_000002.11:g.203726148_203726151del	NC_000002.11:g.203726149_203726151del	NC_000002.11:g.203726150_203726151del	NC_000002.11:g.203726151del	NC_000002.11:g.203726151dup	NC_000002.11:g.203726150_203726151dup	NC_000002.11:g.203726149_203726151dup	NC_000002.11:g.203726148_203726151dup	NC_000002.11:g.203726147_203726151dup	NC_000002.11:g.203726144_203726151dup	NC_000002.11:g.203726143_203726151dup	NC_000002.11:g.203726142_203726151dup	NC_000002.11:g.203726135_203726151dup	NC_000002.11:g.203726151_203726152insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ICA1L transcript variant 3	NM_001288622.3:c.-8+10217=	NM_001288622.3:c.-8+10201_-8+10217del	NM_001288622.3:c.-8+10203_-8+10217del	NM_001288622.3:c.-8+10204_-8+10217del	NM_001288622.3:c.-8+10205_-8+10217del	NM_001288622.3:c.-8+10206_-8+10217del	NM_001288622.3:c.-8+10207_-8+10217del	NM_001288622.3:c.-8+10208_-8+10217del	NM_001288622.3:c.-8+10209_-8+10217del	NM_001288622.3:c.-8+10210_-8+10217del	NM_001288622.3:c.-8+10211_-8+10217del	NM_001288622.3:c.-8+10212_-8+10217del	NM_001288622.3:c.-8+10213_-8+10217del	NM_001288622.3:c.-8+10214_-8+10217del	NM_001288622.3:c.-8+10215_-8+10217del	NM_001288622.3:c.-8+10216_-8+10217del	NM_001288622.3:c.-8+10217del	NM_001288622.3:c.-8+10217dup	NM_001288622.3:c.-8+10216_-8+10217dup	NM_001288622.3:c.-8+10215_-8+10217dup	NM_001288622.3:c.-8+10214_-8+10217dup	NM_001288622.3:c.-8+10213_-8+10217dup	NM_001288622.3:c.-8+10210_-8+10217dup	NM_001288622.3:c.-8+10209_-8+10217dup	NM_001288622.3:c.-8+10208_-8+10217dup	NM_001288622.3:c.-8+10201_-8+10217dup	NM_001288622.3:c.-8+10217_-8+10218insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant 4	NM_001288623.2:c.-8+9759=	NM_001288623.2:c.-8+9743_-8+9759del	NM_001288623.2:c.-8+9745_-8+9759del	NM_001288623.2:c.-8+9746_-8+9759del	NM_001288623.2:c.-8+9747_-8+9759del	NM_001288623.2:c.-8+9748_-8+9759del	NM_001288623.2:c.-8+9749_-8+9759del	NM_001288623.2:c.-8+9750_-8+9759del	NM_001288623.2:c.-8+9751_-8+9759del	NM_001288623.2:c.-8+9752_-8+9759del	NM_001288623.2:c.-8+9753_-8+9759del	NM_001288623.2:c.-8+9754_-8+9759del	NM_001288623.2:c.-8+9755_-8+9759del	NM_001288623.2:c.-8+9756_-8+9759del	NM_001288623.2:c.-8+9757_-8+9759del	NM_001288623.2:c.-8+9758_-8+9759del	NM_001288623.2:c.-8+9759del	NM_001288623.2:c.-8+9759dup	NM_001288623.2:c.-8+9758_-8+9759dup	NM_001288623.2:c.-8+9757_-8+9759dup	NM_001288623.2:c.-8+9756_-8+9759dup	NM_001288623.2:c.-8+9755_-8+9759dup	NM_001288623.2:c.-8+9752_-8+9759dup	NM_001288623.2:c.-8+9751_-8+9759dup	NM_001288623.2:c.-8+9750_-8+9759dup	NM_001288623.2:c.-8+9743_-8+9759dup	NM_001288623.2:c.-8+9759_-8+9760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant 1	NM_138468.4:c.-8+9128=	NM_138468.4:c.-8+9112_-8+9128del	NM_138468.4:c.-8+9114_-8+9128del	NM_138468.4:c.-8+9115_-8+9128del	NM_138468.4:c.-8+9116_-8+9128del	NM_138468.4:c.-8+9117_-8+9128del	NM_138468.4:c.-8+9118_-8+9128del	NM_138468.4:c.-8+9119_-8+9128del	NM_138468.4:c.-8+9120_-8+9128del	NM_138468.4:c.-8+9121_-8+9128del	NM_138468.4:c.-8+9122_-8+9128del	NM_138468.4:c.-8+9123_-8+9128del	NM_138468.4:c.-8+9124_-8+9128del	NM_138468.4:c.-8+9125_-8+9128del	NM_138468.4:c.-8+9126_-8+9128del	NM_138468.4:c.-8+9127_-8+9128del	NM_138468.4:c.-8+9128del	NM_138468.4:c.-8+9128dup	NM_138468.4:c.-8+9127_-8+9128dup	NM_138468.4:c.-8+9126_-8+9128dup	NM_138468.4:c.-8+9125_-8+9128dup	NM_138468.4:c.-8+9124_-8+9128dup	NM_138468.4:c.-8+9121_-8+9128dup	NM_138468.4:c.-8+9120_-8+9128dup	NM_138468.4:c.-8+9119_-8+9128dup	NM_138468.4:c.-8+9112_-8+9128dup	NM_138468.4:c.-8+9128_-8+9129insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant 1	NM_138468.7:c.-8+9128=	NM_138468.7:c.-8+9112_-8+9128del	NM_138468.7:c.-8+9114_-8+9128del	NM_138468.7:c.-8+9115_-8+9128del	NM_138468.7:c.-8+9116_-8+9128del	NM_138468.7:c.-8+9117_-8+9128del	NM_138468.7:c.-8+9118_-8+9128del	NM_138468.7:c.-8+9119_-8+9128del	NM_138468.7:c.-8+9120_-8+9128del	NM_138468.7:c.-8+9121_-8+9128del	NM_138468.7:c.-8+9122_-8+9128del	NM_138468.7:c.-8+9123_-8+9128del	NM_138468.7:c.-8+9124_-8+9128del	NM_138468.7:c.-8+9125_-8+9128del	NM_138468.7:c.-8+9126_-8+9128del	NM_138468.7:c.-8+9127_-8+9128del	NM_138468.7:c.-8+9128del	NM_138468.7:c.-8+9128dup	NM_138468.7:c.-8+9127_-8+9128dup	NM_138468.7:c.-8+9126_-8+9128dup	NM_138468.7:c.-8+9125_-8+9128dup	NM_138468.7:c.-8+9124_-8+9128dup	NM_138468.7:c.-8+9121_-8+9128dup	NM_138468.7:c.-8+9120_-8+9128dup	NM_138468.7:c.-8+9119_-8+9128dup	NM_138468.7:c.-8+9112_-8+9128dup	NM_138468.7:c.-8+9128_-8+9129insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant 2	NM_178231.2:c.-8+8134=	NM_178231.2:c.-8+8118_-8+8134del	NM_178231.2:c.-8+8120_-8+8134del	NM_178231.2:c.-8+8121_-8+8134del	NM_178231.2:c.-8+8122_-8+8134del	NM_178231.2:c.-8+8123_-8+8134del	NM_178231.2:c.-8+8124_-8+8134del	NM_178231.2:c.-8+8125_-8+8134del	NM_178231.2:c.-8+8126_-8+8134del	NM_178231.2:c.-8+8127_-8+8134del	NM_178231.2:c.-8+8128_-8+8134del	NM_178231.2:c.-8+8129_-8+8134del	NM_178231.2:c.-8+8130_-8+8134del	NM_178231.2:c.-8+8131_-8+8134del	NM_178231.2:c.-8+8132_-8+8134del	NM_178231.2:c.-8+8133_-8+8134del	NM_178231.2:c.-8+8134del	NM_178231.2:c.-8+8134dup	NM_178231.2:c.-8+8133_-8+8134dup	NM_178231.2:c.-8+8132_-8+8134dup	NM_178231.2:c.-8+8131_-8+8134dup	NM_178231.2:c.-8+8130_-8+8134dup	NM_178231.2:c.-8+8127_-8+8134dup	NM_178231.2:c.-8+8126_-8+8134dup	NM_178231.2:c.-8+8125_-8+8134dup	NM_178231.2:c.-8+8118_-8+8134dup	NM_178231.2:c.-8+8134_-8+8135insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant X1	XM_005246290.1:c.-8+10217=	XM_005246290.1:c.-8+10201_-8+10217del	XM_005246290.1:c.-8+10203_-8+10217del	XM_005246290.1:c.-8+10204_-8+10217del	XM_005246290.1:c.-8+10205_-8+10217del	XM_005246290.1:c.-8+10206_-8+10217del	XM_005246290.1:c.-8+10207_-8+10217del	XM_005246290.1:c.-8+10208_-8+10217del	XM_005246290.1:c.-8+10209_-8+10217del	XM_005246290.1:c.-8+10210_-8+10217del	XM_005246290.1:c.-8+10211_-8+10217del	XM_005246290.1:c.-8+10212_-8+10217del	XM_005246290.1:c.-8+10213_-8+10217del	XM_005246290.1:c.-8+10214_-8+10217del	XM_005246290.1:c.-8+10215_-8+10217del	XM_005246290.1:c.-8+10216_-8+10217del	XM_005246290.1:c.-8+10217del	XM_005246290.1:c.-8+10217dup	XM_005246290.1:c.-8+10216_-8+10217dup	XM_005246290.1:c.-8+10215_-8+10217dup	XM_005246290.1:c.-8+10214_-8+10217dup	XM_005246290.1:c.-8+10213_-8+10217dup	XM_005246290.1:c.-8+10210_-8+10217dup	XM_005246290.1:c.-8+10209_-8+10217dup	XM_005246290.1:c.-8+10208_-8+10217dup	XM_005246290.1:c.-8+10201_-8+10217dup	XM_005246290.1:c.-8+10217_-8+10218insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant X3	XM_005246292.1:c.-8+9759=	XM_005246292.1:c.-8+9743_-8+9759del	XM_005246292.1:c.-8+9745_-8+9759del	XM_005246292.1:c.-8+9746_-8+9759del	XM_005246292.1:c.-8+9747_-8+9759del	XM_005246292.1:c.-8+9748_-8+9759del	XM_005246292.1:c.-8+9749_-8+9759del	XM_005246292.1:c.-8+9750_-8+9759del	XM_005246292.1:c.-8+9751_-8+9759del	XM_005246292.1:c.-8+9752_-8+9759del	XM_005246292.1:c.-8+9753_-8+9759del	XM_005246292.1:c.-8+9754_-8+9759del	XM_005246292.1:c.-8+9755_-8+9759del	XM_005246292.1:c.-8+9756_-8+9759del	XM_005246292.1:c.-8+9757_-8+9759del	XM_005246292.1:c.-8+9758_-8+9759del	XM_005246292.1:c.-8+9759del	XM_005246292.1:c.-8+9759dup	XM_005246292.1:c.-8+9758_-8+9759dup	XM_005246292.1:c.-8+9757_-8+9759dup	XM_005246292.1:c.-8+9756_-8+9759dup	XM_005246292.1:c.-8+9755_-8+9759dup	XM_005246292.1:c.-8+9752_-8+9759dup	XM_005246292.1:c.-8+9751_-8+9759dup	XM_005246292.1:c.-8+9750_-8+9759dup	XM_005246292.1:c.-8+9743_-8+9759dup	XM_005246292.1:c.-8+9759_-8+9760insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ICA1L transcript variant X4	XM_005246293.1:c.-8+9789=	XM_005246293.1:c.-8+9773_-8+9789del	XM_005246293.1:c.-8+9775_-8+9789del	XM_005246293.1:c.-8+9776_-8+9789del	XM_005246293.1:c.-8+9777_-8+9789del	XM_005246293.1:c.-8+9778_-8+9789del	XM_005246293.1:c.-8+9779_-8+9789del	XM_005246293.1:c.-8+9780_-8+9789del	XM_005246293.1:c.-8+9781_-8+9789del	XM_005246293.1:c.-8+9782_-8+9789del	XM_005246293.1:c.-8+9783_-8+9789del	XM_005246293.1:c.-8+9784_-8+9789del	XM_005246293.1:c.-8+9785_-8+9789del	XM_005246293.1:c.-8+9786_-8+9789del	XM_005246293.1:c.-8+9787_-8+9789del	XM_005246293.1:c.-8+9788_-8+9789del	XM_005246293.1:c.-8+9789del	XM_005246293.1:c.-8+9789dup	XM_005246293.1:c.-8+9788_-8+9789dup	XM_005246293.1:c.-8+9787_-8+9789dup	XM_005246293.1:c.-8+9786_-8+9789dup	XM_005246293.1:c.-8+9785_-8+9789dup	XM_005246293.1:c.-8+9782_-8+9789dup	XM_005246293.1:c.-8+9781_-8+9789dup	XM_005246293.1:c.-8+9780_-8+9789dup	XM_005246293.1:c.-8+9773_-8+9789dup	XM_005246293.1:c.-8+9789_-8+9790insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

45 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82118636	Dec 16, 2007 (129)
2	HUMANGENOME_JCVI	ss95299554	Feb 04, 2009 (130)
3	SWEGEN	ss2991202057	Nov 08, 2017 (151)
4	MCHAISSO	ss3065788659	Jan 10, 2018 (151)
5	EVA_DECODE	ss3705834087	Jul 13, 2019 (153)
6	EVA_DECODE	ss3705834088	Jul 13, 2019 (153)
7	EVA_DECODE	ss3705834089	Jul 13, 2019 (153)
8	EVA_DECODE	ss3705834090	Jul 13, 2019 (153)
9	EVA_DECODE	ss3705834091	Jul 13, 2019 (153)
10	PACBIO	ss3784126445	Jul 13, 2019 (153)
11	PACBIO	ss3789668683	Jul 13, 2019 (153)
12	PACBIO	ss3794541854	Jul 13, 2019 (153)
13	EVA	ss3827456489	Apr 25, 2020 (154)
14	GNOMAD	ss4059386035	Apr 26, 2021 (155)
15	GNOMAD	ss4059386036	Apr 26, 2021 (155)
16	GNOMAD	ss4059386037	Apr 26, 2021 (155)
17	GNOMAD	ss4059386038	Apr 26, 2021 (155)
18	GNOMAD	ss4059386039	Apr 26, 2021 (155)
19	GNOMAD	ss4059386040	Apr 26, 2021 (155)
20	GNOMAD	ss4059386041	Apr 26, 2021 (155)
21	GNOMAD	ss4059386042	Apr 26, 2021 (155)
22	GNOMAD	ss4059386043	Apr 26, 2021 (155)
23	GNOMAD	ss4059386044	Apr 26, 2021 (155)
24	GNOMAD	ss4059386045	Apr 26, 2021 (155)
25	GNOMAD	ss4059386046	Apr 26, 2021 (155)
26	GNOMAD	ss4059386047	Apr 26, 2021 (155)
27	GNOMAD	ss4059386048	Apr 26, 2021 (155)
28	GNOMAD	ss4059386049	Apr 26, 2021 (155)
29	GNOMAD	ss4059386050	Apr 26, 2021 (155)
30	GNOMAD	ss4059386051	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5156066577	Apr 26, 2021 (155)
32	TOMMO_GENOMICS	ss5156066578	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5156066579	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5156066580	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5156066581	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5156066582	Apr 26, 2021 (155)
37	HUGCELL_USP	ss5451343017	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5451343018	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5451343019	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5686824874	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5686824875	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5686824876	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5686824877	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5686824878	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5686824879	Oct 12, 2022 (156)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 88101306 (NC_000002.12:202861401::A 1627/20688) Row 88101307 (NC_000002.12:202861401::AA 7272/20664) Row 88101308 (NC_000002.12:202861401::AAAAAAAAA 32/20694)...	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 14035884 (NC_000002.11:203726124::AAA 1564/8386) Row 14035885 (NC_000002.11:203726124::AA 448/8386) Row 14035886 (NC_000002.11:203726124::AAAA 93/8386)...	-	Apr 26, 2021 (155)
70	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 20661978 (NC_000002.12:202861401::AAA 3467/16300) Row 20661979 (NC_000002.12:202861401::AA 1115/16300) Row 20661980 (NC_000002.12:202861401:AA: 71/16300)...	-	Oct 12, 2022 (156)
76	ALFA	NC_000002.12 - 202861402	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4059386051	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4059386050	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4059386049	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4059386048	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4059386047	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4059386046	NC_000002.12:202861401:AAAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4059386045	NC_000002.12:202861401:AAAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4059386044	NC_000002.12:202861401:AAAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4059386043	NC_000002.12:202861401:AAAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4059386042	NC_000002.12:202861401:AAAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4059386041	NC_000002.12:202861401:AAAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386040	NC_000002.12:202861401:AAAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705834091	NC_000002.12:202861401:AAAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss2991202057	NC_000002.11:203726124:AA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386039, ss5451343019, ss5686824876	NC_000002.12:202861401:AA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705834090	NC_000002.12:202861403:AA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000002.12:202861401:A:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5156066580	NC_000002.11:203726124::A	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386035, ss5686824878	NC_000002.12:202861401::A	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3784126445, ss3789668683, ss3794541854, ss3827456489, ss5156066578	NC_000002.11:203726124::AA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386036, ss5451343017, ss5686824875	NC_000002.12:202861401::AA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705834089	NC_000002.12:202861405::AA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5156066577	NC_000002.11:203726124::AAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5451343018, ss5686824874	NC_000002.12:202861401::AAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705834088	NC_000002.12:202861405::AAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95299554	NT_005403.17:53935569::AAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5156066579	NC_000002.11:203726124::AAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5686824877	NC_000002.12:202861401::AAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3705834087	NC_000002.12:202861405::AAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss82118636	NT_005403.17:53935569::AAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5156066582	NC_000002.11:203726124::AAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5156066581	NC_000002.11:203726124::AAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386037, ss5686824879	NC_000002.12:202861401::AAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3918593308	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4059386038	NC_000002.12:202861401::AAAAAAAAAA… NC_000002.12:202861401::AAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3065788659	NC_000002.12:202861401::AAAAAAAAAA… NC_000002.12:202861401::AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3335867244	NC_000002.12:202861401::AAAAA	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ss3335867247	NC_000002.12:202861401:AAA:	NC_000002.12:202861401:AAAAAAAAAAA… NC_000002.12:202861401:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs61240847

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

rs61240847