Name: rs60831202
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.

rs60831202

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:72152006-72152051 (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(CA)₁₄ / del(CA)₁₃ / del(CA)₁₂ …
del(CA)₁₄ / del(CA)₁₃ / del(CA)₁₂ / del(CA)₁₁ / del(CA)₁₀ / del(CA)₉ / del(CA)₈ / del(CA)₇ / del(CA)₆ / del(CA)₅ / del(CA)₄ / del(CA)₃ / delCACA / delCA / dupCA / dupCACA / dup(CA)₃ / dup(CA)₄ / dup(CA)₅ / dup(CA)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(CA)₃=0.2296 (1054/4590, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
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	4590	CACACACACACACACACACACACACACACACACACACACACACACA=0.1039	CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACA=0.0089, CACACACACACACACACACACACACACACACACACACA=0.0721, CACACACACACACACACACACACACACACACACACACACA=0.2296, CACACACACACACACACACACACACACACACACACACACACA=0.1418, CACACACACACACACACACACACACACACACACACACACACACA=0.4281, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0155, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.137311	0.426136	0.436553	2
European	Sub	4510	CACACACACACACACACACACACACACACACACACACACACACACA=0.0894	CACACACACACACACACA=0.0000, CACACACACACACACACACA=0.0000, CACACACACACACACACACACA=0.0000, CACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACA=0.0091, CACACACACACACACACACACACACACACACACACACA=0.0732, CACACACACACACACACACACACACACACACACACACACA=0.2337, CACACACACACACACACACACACACACACACACACACACACA=0.1439, CACACACACACACACACACACACACACACACACACACACACACA=0.4350, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0157, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0000	0.137311	0.426136	0.436553	2
African	Sub	52	CACACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	0	0	0	N/A
African Others	Sub	6	CACACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	0	0	0	N/A
African American	Sub	46	CACACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	0	0	0	N/A
Asian	Sub	4	CACACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	0	0	0	N/A
East Asian	Sub	2	CACACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	0	0	0	N/A
Other Asian	Sub	2	CACACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	0	0	0	N/A
Latin American 1	Sub	2	CACACACACACACACACACACACACACACACACACACACACACACA=1.0	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0	0	0	0	N/A
Latin American 2	Sub	12	CACACACACACACACACACACACACACACACACACACACACACACA=1.00	CACACACACACACACACA=0.00, CACACACACACACACACACA=0.00, CACACACACACACACACACACA=0.00, CACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.00	0	0	0	N/A
South Asian	Sub	0	CACACACACACACACACACACACACACACACACACACACACACACA=0	CACACACACACACACACA=0, CACACACACACACACACACA=0, CACACACACACACACACACACA=0, CACACACACACACACACACACACA=0, CACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0	0	0	0	N/A
Other	Sub	10	CACACACACACACACACACACACACACACACACACACACACACACA=0.4	CACACACACACACACACA=0.0, CACACACACACACACACACA=0.0, CACACACACACACACACACACA=0.0, CACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACA=0.1, CACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACA=0.2, CACACACACACACACACACACACACACACACACACACACACACA=0.3, CACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACA=0.0, CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	4590	(CA)₂₃=0.1039	del(CA)₁₄=0.0000, del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0089, del(CA)₄=0.0721, del(CA)₃=0.2296, delCACA=0.1418, delCA=0.4281, dupCA=0.0155, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	European	Sub	4510	(CA)₂₃=0.0894	del(CA)₁₄=0.0000, del(CA)₁₃=0.0000, del(CA)₁₂=0.0000, del(CA)₁₁=0.0000, del(CA)₁₀=0.0000, del(CA)₉=0.0000, del(CA)₈=0.0000, del(CA)₇=0.0000, del(CA)₆=0.0000, del(CA)₅=0.0091, del(CA)₄=0.0732, del(CA)₃=0.2337, delCACA=0.1439, delCA=0.4350, dupCA=0.0157, dupCACA=0.0000, dup(CA)₃=0.0000, dup(CA)₄=0.0000, dup(CA)₅=0.0000, dup(CA)₆=0.0000
Allele Frequency Aggregator	African	Sub	52	(CA)₂₃=1.00	del(CA)₁₄=0.00, del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	12	(CA)₂₃=1.00	del(CA)₁₄=0.00, del(CA)₁₃=0.00, del(CA)₁₂=0.00, del(CA)₁₁=0.00, del(CA)₁₀=0.00, del(CA)₉=0.00, del(CA)₈=0.00, del(CA)₇=0.00, del(CA)₆=0.00, del(CA)₅=0.00, del(CA)₄=0.00, del(CA)₃=0.00, delCACA=0.00, delCA=0.00, dupCA=0.00, dupCACA=0.00, dup(CA)₃=0.00, dup(CA)₄=0.00, dup(CA)₅=0.00, dup(CA)₆=0.00
Allele Frequency Aggregator	Other	Sub	10	(CA)₂₃=0.4	del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.1, del(CA)₃=0.0, delCACA=0.2, delCA=0.3, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0
Allele Frequency Aggregator	Asian	Sub	4	(CA)₂₃=1.0	del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.0, del(CA)₃=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(CA)₂₃=1.0	del(CA)₁₄=0.0, del(CA)₁₃=0.0, del(CA)₁₂=0.0, del(CA)₁₁=0.0, del(CA)₁₀=0.0, del(CA)₉=0.0, del(CA)₈=0.0, del(CA)₇=0.0, del(CA)₆=0.0, del(CA)₅=0.0, del(CA)₄=0.0, del(CA)₃=0.0, delCACA=0.0, delCA=0.0, dupCA=0.0, dupCACA=0.0, dup(CA)₃=0.0, dup(CA)₄=0.0, dup(CA)₅=0.0, dup(CA)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(CA)₂₃=0	del(CA)₁₄=0, del(CA)₁₃=0, del(CA)₁₂=0, del(CA)₁₁=0, del(CA)₁₀=0, del(CA)₉=0, del(CA)₈=0, del(CA)₇=0, del(CA)₆=0, del(CA)₅=0, del(CA)₄=0, del(CA)₃=0, delCACA=0, delCA=0, dupCA=0, dupCACA=0, dup(CA)₃=0, dup(CA)₄=0, dup(CA)₅=0, dup(CA)₆=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.72152006CA[9]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[10]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[11]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[12]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[13]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[14]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[15]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[16]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[17]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[18]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[19]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[20]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[21]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[22]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[24]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[25]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[26]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[27]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[28]
GRCh38.p14 chr 2	NC_000002.12:g.72152006CA[29]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[9]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[10]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[11]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[12]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[13]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[14]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[15]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[16]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[17]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[18]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[19]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[20]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[21]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[22]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[24]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[25]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[26]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[27]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[28]
GRCh37.p13 chr 2	NC_000002.11:g.72379135CA[29]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[9]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[10]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[11]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[12]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[13]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[14]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[15]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[16]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[17]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[18]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[19]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[20]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[21]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[22]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[24]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[25]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[26]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[27]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[28]
CYP26B1 RefSeqGene	NG_007957.1:g.784TG[29]

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	(CA)₂₃=	del(CA)₁₄	del(CA)₁₃	del(CA)₁₂	del(CA)₁₁	del(CA)₁₀	del(CA)₉	del(CA)₈	del(CA)₇	del(CA)₆	del(CA)₅	del(CA)₄	del(CA)₃	delCACA	delCA	dupCA	dupCACA	dup(CA)₃	dup(CA)₄	dup(CA)₅	dup(CA)₆
GRCh38.p14 chr 2	NC_000002.12:g.72152006_72152051=	NC_000002.12:g.72152006CA[9]	NC_000002.12:g.72152006CA[10]	NC_000002.12:g.72152006CA[11]	NC_000002.12:g.72152006CA[12]	NC_000002.12:g.72152006CA[13]	NC_000002.12:g.72152006CA[14]	NC_000002.12:g.72152006CA[15]	NC_000002.12:g.72152006CA[16]	NC_000002.12:g.72152006CA[17]	NC_000002.12:g.72152006CA[18]	NC_000002.12:g.72152006CA[19]	NC_000002.12:g.72152006CA[20]	NC_000002.12:g.72152006CA[21]	NC_000002.12:g.72152006CA[22]	NC_000002.12:g.72152006CA[24]	NC_000002.12:g.72152006CA[25]	NC_000002.12:g.72152006CA[26]	NC_000002.12:g.72152006CA[27]	NC_000002.12:g.72152006CA[28]	NC_000002.12:g.72152006CA[29]
GRCh37.p13 chr 2	NC_000002.11:g.72379135_72379180=	NC_000002.11:g.72379135CA[9]	NC_000002.11:g.72379135CA[10]	NC_000002.11:g.72379135CA[11]	NC_000002.11:g.72379135CA[12]	NC_000002.11:g.72379135CA[13]	NC_000002.11:g.72379135CA[14]	NC_000002.11:g.72379135CA[15]	NC_000002.11:g.72379135CA[16]	NC_000002.11:g.72379135CA[17]	NC_000002.11:g.72379135CA[18]	NC_000002.11:g.72379135CA[19]	NC_000002.11:g.72379135CA[20]	NC_000002.11:g.72379135CA[21]	NC_000002.11:g.72379135CA[22]	NC_000002.11:g.72379135CA[24]	NC_000002.11:g.72379135CA[25]	NC_000002.11:g.72379135CA[26]	NC_000002.11:g.72379135CA[27]	NC_000002.11:g.72379135CA[28]	NC_000002.11:g.72379135CA[29]
CYP26B1 RefSeqGene	NG_007957.1:g.784_829=	NG_007957.1:g.784TG[9]	NG_007957.1:g.784TG[10]	NG_007957.1:g.784TG[11]	NG_007957.1:g.784TG[12]	NG_007957.1:g.784TG[13]	NG_007957.1:g.784TG[14]	NG_007957.1:g.784TG[15]	NG_007957.1:g.784TG[16]	NG_007957.1:g.784TG[17]	NG_007957.1:g.784TG[18]	NG_007957.1:g.784TG[19]	NG_007957.1:g.784TG[20]	NG_007957.1:g.784TG[21]	NG_007957.1:g.784TG[22]	NG_007957.1:g.784TG[24]	NG_007957.1:g.784TG[25]	NG_007957.1:g.784TG[26]	NG_007957.1:g.784TG[27]	NG_007957.1:g.784TG[28]	NG_007957.1:g.784TG[29]

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#.

80 SubSNP, 38 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83192597	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95276441	Dec 05, 2013 (144)
3	PJP	ss294989583	May 09, 2011 (135)
4	EVA_UK10K_ALSPAC	ss1702724636	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1702724639	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710009063	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710009064	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710009065	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710009066	Apr 01, 2015 (144)
10	SWEGEN	ss2989732057	Nov 08, 2017 (151)
11	MCHAISSO	ss3063941502	Nov 08, 2017 (151)
12	MCHAISSO	ss3064792625	Nov 08, 2017 (151)
13	MCHAISSO	ss3064792626	Nov 08, 2017 (151)
14	MCHAISSO	ss3064792627	Nov 08, 2017 (151)
15	MCHAISSO	ss3065747533	Nov 08, 2017 (151)
16	MCHAISSO	ss3065747534	Nov 08, 2017 (151)
17	EVA_DECODE	ss3704169474	Jul 13, 2019 (153)
18	EVA_DECODE	ss3704169475	Jul 13, 2019 (153)
19	EVA_DECODE	ss3704169476	Jul 13, 2019 (153)
20	EVA_DECODE	ss3704169477	Jul 13, 2019 (153)
21	EVA_DECODE	ss3704169478	Jul 13, 2019 (153)
22	EVA_DECODE	ss3704169479	Jul 13, 2019 (153)
23	PACBIO	ss3783897966	Jul 13, 2019 (153)
24	PACBIO	ss3783897967	Jul 13, 2019 (153)
25	PACBIO	ss3789478983	Jul 13, 2019 (153)
26	PACBIO	ss3789478984	Jul 13, 2019 (153)
27	PACBIO	ss3794351940	Jul 13, 2019 (153)
28	PACBIO	ss3794351941	Jul 13, 2019 (153)
29	EVA	ss3827050652	Apr 25, 2020 (154)
30	GNOMAD	ss4043811771	Apr 26, 2021 (155)
31	GNOMAD	ss4043811772	Apr 26, 2021 (155)
32	GNOMAD	ss4043811773	Apr 26, 2021 (155)
33	GNOMAD	ss4043811774	Apr 26, 2021 (155)
34	GNOMAD	ss4043811775	Apr 26, 2021 (155)
35	GNOMAD	ss4043811776	Apr 26, 2021 (155)
36	GNOMAD	ss4043811777	Apr 26, 2021 (155)
37	GNOMAD	ss4043811778	Apr 26, 2021 (155)
38	GNOMAD	ss4043811779	Apr 26, 2021 (155)
39	GNOMAD	ss4043811780	Apr 26, 2021 (155)
40	GNOMAD	ss4043811781	Apr 26, 2021 (155)
41	GNOMAD	ss4043811782	Apr 26, 2021 (155)
42	GNOMAD	ss4043811783	Apr 26, 2021 (155)
43	GNOMAD	ss4043811784	Apr 26, 2021 (155)
44	GNOMAD	ss4043811785	Apr 26, 2021 (155)
45	GNOMAD	ss4043811786	Apr 26, 2021 (155)
46	GNOMAD	ss4043811787	Apr 26, 2021 (155)
47	GNOMAD	ss4043811788	Apr 26, 2021 (155)
48	GNOMAD	ss4043811789	Apr 26, 2021 (155)
49	GNOMAD	ss4043811790	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5152004666	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5152004667	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5152004668	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5152004669	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5152004670	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5152004671	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5248552411	Oct 12, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5248552412	Oct 12, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5248552413	Oct 12, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5248552414	Oct 12, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5248552415	Oct 12, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5248552416	Oct 12, 2022 (156)
62	HUGCELL_USP	ss5448709302	Oct 12, 2022 (156)
63	HUGCELL_USP	ss5448709303	Oct 12, 2022 (156)
64	HUGCELL_USP	ss5448709304	Oct 12, 2022 (156)
65	HUGCELL_USP	ss5448709305	Oct 12, 2022 (156)
66	HUGCELL_USP	ss5448709306	Oct 12, 2022 (156)
67	HUGCELL_USP	ss5448709307	Oct 12, 2022 (156)
68	TOMMO_GENOMICS	ss5680813853	Oct 12, 2022 (156)
69	TOMMO_GENOMICS	ss5680813854	Oct 12, 2022 (156)
70	TOMMO_GENOMICS	ss5680813855	Oct 12, 2022 (156)
71	TOMMO_GENOMICS	ss5680813856	Oct 12, 2022 (156)
72	TOMMO_GENOMICS	ss5680813857	Oct 12, 2022 (156)
73	TOMMO_GENOMICS	ss5680813858	Oct 12, 2022 (156)
74	EVA	ss5820288048	Oct 12, 2022 (156)
75	EVA	ss5820288049	Oct 12, 2022 (156)
76	EVA	ss5820288050	Oct 12, 2022 (156)
77	EVA	ss5820288051	Oct 12, 2022 (156)
78	EVA	ss5820288052	Oct 12, 2022 (156)
79	EVA	ss5930936407	Oct 12, 2022 (156)
80	EVA	ss5980063279	Oct 12, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4883628 (NC_000002.11:72379134:CACACA: 899/3854) Row 4883629 (NC_000002.11:72379136:CA: 781/3854)	-	Oct 11, 2018 (152)
82	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 4883628 (NC_000002.11:72379134:CACACA: 899/3854) Row 4883629 (NC_000002.11:72379136:CA: 781/3854)	-	Oct 11, 2018 (152)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 62307348 (NC_000002.12:72152005::CA 2854/130400) Row 62307349 (NC_000002.12:72152005::CACA 564/130452) Row 62307350 (NC_000002.12:72152005::CACACA 242/130458)...	-	Apr 26, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 9973973 (NC_000002.11:72379134:CACACA: 2538/16742) Row 9973974 (NC_000002.11:72379134:CACACACA: 1505/16742) Row 9973975 (NC_000002.11:72379134:CACA: 2213/16742)...	-	Apr 26, 2021 (155)
109	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 14650957 (NC_000002.12:72152005:CA: 10843/28246) Row 14650958 (NC_000002.12:72152005::CA 1270/28246) Row 14650959 (NC_000002.12:72152005:CACACA: 4389/28246)...	-	Oct 12, 2022 (156)
115	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4883627 (NC_000002.11:72379138:CA: 1749/3708) Row 4883628 (NC_000002.11:72379134:CACACA: 877/3708) Row 4883629 (NC_000002.11:72379136:CACA: 728/3708)	-	Apr 25, 2020 (154)
116	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4883628 (NC_000002.11:72379134:CACACA: 877/3708) Row 4883629 (NC_000002.11:72379136:CA: 728/3708)	-	Oct 11, 2018 (152)
117	UK 10K study - Twins Submission ignored due to conflicting rows: Row 4883628 (NC_000002.11:72379134:CACACA: 877/3708) Row 4883629 (NC_000002.11:72379136:CA: 728/3708)	-	Oct 11, 2018 (152)
118	ALFA	NC_000002.12 - 72152006	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)
rs72287330	May 11, 2012 (137)
rs142372036	Sep 17, 2011 (135)
rs397984989	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4043811790	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA	(self)
ss4043811789	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA	(self)
ss4043811788	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA	(self)
ss4043811787	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA	(self)
ss4043811786	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA	(self)
ss4043811785	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA	(self)
ss4043811784	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA	(self)
ss2989732057	NC_000002.11:72379134:CACACACACACA… NC_000002.11:72379134:CACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
ss4043811783, ss5248552416, ss5448709306	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA	(self)
ss4043811782, ss5248552414, ss5448709307	NC_000002.12:72152005:CACACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA	(self)
ss3783897966, ss3789478983, ss3794351940, ss5820288052	NC_000002.11:72379134:CACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
ss3704169479, ss4043811781	NC_000002.12:72152005:CACACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA	(self)
ss5152004667, ss5820288050	NC_000002.11:72379134:CACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss4043811780, ss5248552415, ss5448709304, ss5680813857, ss5930936407	NC_000002.12:72152005:CACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss3704169478	NC_000002.12:72152007:CACACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA	(self)
ss1702724636, ss1702724639, ss3827050652, ss5152004666, ss5820288048, ss5980063279	NC_000002.11:72379134:CACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss3063941502, ss3064792625, ss3065747534, ss4043811779, ss5248552413, ss5448709305, ss5680813855	NC_000002.12:72152005:CACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss3704169477	NC_000002.12:72152009:CACACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA	(self)
ss3783897967, ss3789478984, ss3794351941, ss5152004668, ss5820288051	NC_000002.11:72379134:CACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss1710009065, ss1710009066	NC_000002.11:72379136:CACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss3064792627, ss3065747533, ss4043811778, ss5248552411, ss5448709302, ss5680813856	NC_000002.12:72152005:CACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss3704169476	NC_000002.12:72152011:CACA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA	(self)
ss83192597	NC_000002.9:72290833:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss294989583	NC_000002.10:72232686:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5152004669, ss5820288049	NC_000002.11:72379134:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
	NC_000002.11:72379136:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss1710009063, ss1710009064	NC_000002.11:72379138:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3064792626, ss4043811777, ss5248552412, ss5448709303, ss5680813853	NC_000002.12:72152005:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3704169475	NC_000002.12:72152013:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss95276441	NT_022184.15:51201065:CA:	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5152004670	NC_000002.11:72379134::CA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811771, ss5680813854	NC_000002.12:72152005::CA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss3704169474	NC_000002.12:72152015::CA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss5152004671	NC_000002.11:72379134::CACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811772, ss5680813858	NC_000002.12:72152005::CACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811773	NC_000002.12:72152005::CACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811774	NC_000002.12:72152005::CACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811775	NC_000002.12:72152005::CACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
ss4043811776	NC_000002.12:72152005::CACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(self)
3980384025	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	NC_000002.12:72152005:CACACACACACA… NC_000002.12:72152005:CACACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA	(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 rs60831202

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

rs60831202