Name: rs1491525634
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.

rs1491525634

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:30075982-30075990 (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: delA / dupA / dupAA / dupAAA / dup…
delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / ins(A)₁₁ / ins(A)₁₆ / ins(A)₁₇ / ins(A)₁₈ / ins(A)₂₀ / ins(A)₂₁ / ins(A)₂₆ / ins(A)₂₉
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.00235 (37/15762, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SARAF : 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	15762	AAAAAAAAA=0.99334	AAAAAAAAAA=0.00235, AAAAAAAAAAA=0.00190, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00063, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00089, AAAAAAAAAAAA=0.00038, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00051, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000	0.996939	0.001658	0.001403	32
European	Sub	11838	AAAAAAAAA=0.99113	AAAAAAAAAA=0.00313, AAAAAAAAAAA=0.00253, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00084, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00118, AAAAAAAAAAAA=0.00051, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00068, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000	0.995918	0.002211	0.001871	32
African	Sub	2606	AAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	100	AAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2506	AAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	94	AAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	74	AAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	AAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	142	AAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	532	AAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	82	AAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	468	AAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	15762	(A)₉=0.99334	dupA=0.00235, dupAA=0.00190, dupAAA=0.00038, dup(A)₄=0.00000, dup(A)₅=0.00000, ins(A)₁₇=0.00089, ins(A)₂₀=0.00051, ins(A)₂₆=0.00063
Allele Frequency Aggregator	European	Sub	11838	(A)₉=0.99113	dupA=0.00313, dupAA=0.00253, dupAAA=0.00051, dup(A)₄=0.00000, dup(A)₅=0.00000, ins(A)₁₇=0.00118, ins(A)₂₀=0.00068, ins(A)₂₆=0.00084
Allele Frequency Aggregator	African	Sub	2606	(A)₉=1.0000	dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, ins(A)₁₇=0.0000, ins(A)₂₀=0.0000, ins(A)₂₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	532	(A)₉=1.000	dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, ins(A)₁₇=0.000, ins(A)₂₀=0.000, ins(A)₂₆=0.000
Allele Frequency Aggregator	Other	Sub	468	(A)₉=1.000	dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, ins(A)₁₇=0.000, ins(A)₂₀=0.000, ins(A)₂₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(A)₉=1.000	dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, ins(A)₁₇=0.000, ins(A)₂₀=0.000, ins(A)₂₆=0.000
Allele Frequency Aggregator	Asian	Sub	94	(A)₉=1.00	dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, ins(A)₁₇=0.00, ins(A)₂₀=0.00, ins(A)₂₆=0.00
Allele Frequency Aggregator	South Asian	Sub	82	(A)₉=1.00	dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, ins(A)₁₇=0.00, ins(A)₂₀=0.00, ins(A)₂₆=0.00

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 8	NC_000008.11:g.30075990del
GRCh38.p14 chr 8	NC_000008.11:g.30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075989_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075988_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075987_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075986_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075985_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075984_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075983_30075990dup
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 8	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506del
GRCh37.p13 chr 8	NC_000008.10:g.29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933505_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933504_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933503_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933502_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933501_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933500_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933499_29933506dup
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: SARAF, store-operated calcium entry associated regulatory factor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SARAF transcript variant 2	NM_001284239.1:c.-234-592… NM_001284239.1:c.-234-5923del	N/A	Intron Variant
SARAF transcript variant 1	NM_016127.6:c.104-1927del	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(A)₉=	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	ins(A)₁₁	ins(A)₁₆	ins(A)₁₇	ins(A)₁₈	ins(A)₂₀	ins(A)₂₁	ins(A)₂₆	ins(A)₂₉
GRCh38.p14 chr 8	NC_000008.11:g.30075982_30075990=	NC_000008.11:g.30075990del	NC_000008.11:g.30075990dup	NC_000008.11:g.30075989_30075990dup	NC_000008.11:g.30075988_30075990dup	NC_000008.11:g.30075987_30075990dup	NC_000008.11:g.30075986_30075990dup	NC_000008.11:g.30075985_30075990dup	NC_000008.11:g.30075984_30075990dup	NC_000008.11:g.30075983_30075990dup	NC_000008.11:g.30075990_30075991insAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:g.30075990_30075991insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 8	NC_000008.10:g.29933498_29933506=	NC_000008.10:g.29933506del	NC_000008.10:g.29933506dup	NC_000008.10:g.29933505_29933506dup	NC_000008.10:g.29933504_29933506dup	NC_000008.10:g.29933503_29933506dup	NC_000008.10:g.29933502_29933506dup	NC_000008.10:g.29933501_29933506dup	NC_000008.10:g.29933500_29933506dup	NC_000008.10:g.29933499_29933506dup	NC_000008.10:g.29933506_29933507insAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.10:g.29933506_29933507insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SARAF transcript variant 2	NM_001284239.1:c.-234-5923=	NM_001284239.1:c.-234-5923del	NM_001284239.1:c.-234-5923dup	NM_001284239.1:c.-234-5924_-234-5923dup	NM_001284239.1:c.-234-5925_-234-5923dup	NM_001284239.1:c.-234-5926_-234-5923dup	NM_001284239.1:c.-234-5927_-234-5923dup	NM_001284239.1:c.-234-5928_-234-5923dup	NM_001284239.1:c.-234-5929_-234-5923dup	NM_001284239.1:c.-234-5930_-234-5923dup	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001284239.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TMEM66 transcript	NM_016127.4:c.104-1927=	NM_016127.4:c.104-1927del	NM_016127.4:c.104-1927dup	NM_016127.4:c.104-1928_104-1927dup	NM_016127.4:c.104-1929_104-1927dup	NM_016127.4:c.104-1930_104-1927dup	NM_016127.4:c.104-1931_104-1927dup	NM_016127.4:c.104-1932_104-1927dup	NM_016127.4:c.104-1933_104-1927dup	NM_016127.4:c.104-1934_104-1927dup	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_016127.4:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SARAF transcript variant 1	NM_016127.6:c.104-1927=	NM_016127.6:c.104-1927del	NM_016127.6:c.104-1927dup	NM_016127.6:c.104-1928_104-1927dup	NM_016127.6:c.104-1929_104-1927dup	NM_016127.6:c.104-1930_104-1927dup	NM_016127.6:c.104-1931_104-1927dup	NM_016127.6:c.104-1932_104-1927dup	NM_016127.6:c.104-1933_104-1927dup	NM_016127.6:c.104-1934_104-1927dup	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_016127.6:c.104-1927_104-1926insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
TMEM66 transcript variant X1	XM_005273529.1:c.-234-5923=	XM_005273529.1:c.-234-5923del	XM_005273529.1:c.-234-5923dup	XM_005273529.1:c.-234-5924_-234-5923dup	XM_005273529.1:c.-234-5925_-234-5923dup	XM_005273529.1:c.-234-5926_-234-5923dup	XM_005273529.1:c.-234-5927_-234-5923dup	XM_005273529.1:c.-234-5928_-234-5923dup	XM_005273529.1:c.-234-5929_-234-5923dup	XM_005273529.1:c.-234-5930_-234-5923dup	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005273529.1:c.-234-5923_-234-5922insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

36 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3002928855	Jan 10, 2018 (151)
2	SWEGEN	ss3002928856	Jan 10, 2018 (151)
3	SWEGEN	ss3002928857	Jan 10, 2018 (151)
4	EVA_DECODE	ss3721714657	Jul 13, 2019 (153)
5	EVA_DECODE	ss3721714658	Jul 13, 2019 (153)
6	EVA_DECODE	ss3721714659	Jul 13, 2019 (153)
7	EVA	ss3831094928	Apr 26, 2020 (154)
8	GNOMAD	ss4181648109	Apr 26, 2021 (155)
9	GNOMAD	ss4181648110	Apr 26, 2021 (155)
10	GNOMAD	ss4181648111	Apr 26, 2021 (155)
11	GNOMAD	ss4181648112	Apr 26, 2021 (155)
12	GNOMAD	ss4181648113	Apr 26, 2021 (155)
13	GNOMAD	ss4181648114	Apr 26, 2021 (155)
14	GNOMAD	ss4181648115	Apr 26, 2021 (155)
15	GNOMAD	ss4181648116	Apr 26, 2021 (155)
16	GNOMAD	ss4181648117	Apr 26, 2021 (155)
17	GNOMAD	ss4181648118	Apr 26, 2021 (155)
18	GNOMAD	ss4181648119	Apr 26, 2021 (155)
19	GNOMAD	ss4181648120	Apr 26, 2021 (155)
20	GNOMAD	ss4181648121	Apr 26, 2021 (155)
21	GNOMAD	ss4181648122	Apr 26, 2021 (155)
22	GNOMAD	ss4181648123	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5188001424	Apr 26, 2021 (155)
24	TOMMO_GENOMICS	ss5188001425	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5188001426	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5188001427	Apr 26, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5276603933	Oct 13, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5276603934	Oct 13, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5276603935	Oct 13, 2022 (156)
30	HUGCELL_USP	ss5473229173	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5473229174	Oct 13, 2022 (156)
32	TOMMO_GENOMICS	ss5729719973	Oct 13, 2022 (156)
33	TOMMO_GENOMICS	ss5729719974	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5729719975	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5729719976	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5729719977	Oct 13, 2022 (156)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 291420378 (NC_000008.11:30075981::A 1822/7088) Row 291420379 (NC_000008.11:30075981::AA 420/7120) Row 291420380 (NC_000008.11:30075981::AAAA 14/7126)...	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 45970731 (NC_000008.10:29933497::A 1256/15434) Row 45970732 (NC_000008.10:29933497::AA 229/15434) Row 45970733 (NC_000008.10:29933497::AAA 71/15434)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 45970731 (NC_000008.10:29933497::A 1256/15434) Row 45970732 (NC_000008.10:29933497::AA 229/15434) Row 45970733 (NC_000008.10:29933497::AAA 71/15434)...	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 45970731 (NC_000008.10:29933497::A 1256/15434) Row 45970732 (NC_000008.10:29933497::AA 229/15434) Row 45970733 (NC_000008.10:29933497::AAA 71/15434)...	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 45970731 (NC_000008.10:29933497::A 1256/15434) Row 45970732 (NC_000008.10:29933497::AA 229/15434) Row 45970733 (NC_000008.10:29933497::AAA 71/15434)...	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 63557077 (NC_000008.11:30075981::A 2011/23108) Row 63557078 (NC_000008.11:30075981::AA 364/23108) Row 63557079 (NC_000008.11:30075981::AAA 98/23108)...	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 63557077 (NC_000008.11:30075981::A 2011/23108) Row 63557078 (NC_000008.11:30075981::AA 364/23108) Row 63557079 (NC_000008.11:30075981::AAA 98/23108)...	-	Oct 13, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 63557077 (NC_000008.11:30075981::A 2011/23108) Row 63557078 (NC_000008.11:30075981::AA 364/23108) Row 63557079 (NC_000008.11:30075981::AAA 98/23108)...	-	Oct 13, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 63557077 (NC_000008.11:30075981::A 2011/23108) Row 63557078 (NC_000008.11:30075981::AA 364/23108) Row 63557079 (NC_000008.11:30075981::AAA 98/23108)...	-	Oct 13, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 63557077 (NC_000008.11:30075981::A 2011/23108) Row 63557078 (NC_000008.11:30075981::AA 364/23108) Row 63557079 (NC_000008.11:30075981::AAA 98/23108)...	-	Oct 13, 2022 (156)
62	ALFA	NC_000008.11 - 30075982	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
ss3721714659	NC_000008.11:30075981:A:	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAA	(self)
ss3002928855, ss5188001424	NC_000008.10:29933497::A	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA	(self)
ss4181648109, ss5729719973	NC_000008.11:30075981::A	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA	(self)
ss3721714658	NC_000008.11:30075982::A	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAA	(self)
ss3002928856, ss3831094928, ss5188001425	NC_000008.10:29933497::AA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA	(self)
ss4181648110, ss5276603933, ss5473229174, ss5729719974	NC_000008.11:30075981::AA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA	(self)
ss3721714657	NC_000008.11:30075982::AA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAA	(self)
ss5188001426	NC_000008.10:29933497::AAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAA	(self)
ss5276603934, ss5473229173, ss5729719975	NC_000008.11:30075981::AAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAA	(self)
ss5188001427	NC_000008.10:29933497::AAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4181648111, ss5276603935, ss5729719976	NC_000008.11:30075981::AAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4181648112	NC_000008.11:30075981::AAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4181648113	NC_000008.11:30075981::AAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4181648114	NC_000008.11:30075981::AAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4181648115, ss5729719977	NC_000008.11:30075981::AAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4181648116	NC_000008.11:30075981::AAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3002928857	NC_000008.10:29933497::AAAAAAAAAAA… NC_000008.10:29933497::AAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648117	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648118	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648119	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648120	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648121	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648122	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9507804278	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4181648123	NC_000008.11:30075981::AAAAAAAAAAA… NC_000008.11:30075981::AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000008.11:30075981:AAAAAAAAA:AA… NC_000008.11:30075981:AAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs1491525634

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

rs1491525634