Name: rs1490637635
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.

rs1490637635

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:99650184 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.000007 (1/140176, GnomAD)
A=0.00004 (1/28258, 14KJPN)
A=0.00000 (0/11862, ALFA) (+ 1 more)
T=0.00000 (0/11862, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANKS1B : Intron Variant
GARIN6 : 500B Downstream 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	HWEP
Total	Global	11862	C=1.00000	A=0.00000, T=0.00000	1.0	N/A
European	Sub	7618	C=1.0000	A=0.0000, T=0.0000	1.0	N/A
African	Sub	2816	C=1.0000	A=0.0000, T=0.0000	1.0	N/A
African Others	Sub	108	C=1.000	A=0.000, T=0.000	1.0	N/A
African American	Sub	2708	C=1.0000	A=0.0000, T=0.0000	1.0	N/A
Asian	Sub	108	C=1.000	A=0.000, T=0.000	1.0	N/A
East Asian	Sub	84	C=1.00	A=0.00, T=0.00	1.0	N/A
Other Asian	Sub	24	C=1.00	A=0.00, T=0.00	1.0	N/A
Latin American 1	Sub	146	C=1.000	A=0.000, T=0.000	1.0	N/A
Latin American 2	Sub	610	C=1.000	A=0.000, T=0.000	1.0	N/A
South Asian	Sub	94	C=1.00	A=0.00, T=0.00	1.0	N/A
Other	Sub	470	C=1.000	A=0.000, T=0.000	1.0	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
gnomAD - Genomes	Global	Study-wide	140176	C=0.999993	A=0.000007
gnomAD - Genomes	European	Sub	75924	C=0.99999	A=0.00001
gnomAD - Genomes	African	Sub	42006	C=1.00000	A=0.00000
gnomAD - Genomes	American	Sub	13644	C=1.00000	A=0.00000
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=1.0000	A=0.0000
gnomAD - Genomes	East Asian	Sub	3132	C=1.0000	A=0.0000
gnomAD - Genomes	Other	Sub	2148	C=1.0000	A=0.0000
14KJPN	JAPANESE	Study-wide	28258	C=0.99996	A=0.00004
Allele Frequency Aggregator	Total	Global	11862	C=1.00000	A=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	7618	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	African	Sub	2816	C=1.0000	A=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	610	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Other	Sub	470	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	108	C=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	94	C=1.00	A=0.00, T=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 12	NC_000012.12:g.99650184C>A
GRCh38.p14 chr 12	NC_000012.12:g.99650184C>T
GRCh37.p13 chr 12	NC_000012.11:g.100043962C>A
GRCh37.p13 chr 12	NC_000012.11:g.100043962C>T
ANKS1B RefSeqGene	NG_029860.2:g.339471G>T
ANKS1B RefSeqGene	NG_029860.2:g.339471G>A

Gene: ANKS1B, ankyrin repeat and sterile alpha motif domain containing 1B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKS1B transcript variant 16	NM_001352185.1:c.1272+488… NM_001352185.1:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant 13	NM_001352186.2:c.1272+488… NM_001352186.2:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant 15	NM_001352187.1:c.1272+488… NM_001352187.1:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant 14	NM_001352188.1:c.1272+488… NM_001352188.1:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant 1	NM_152788.4:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant 4	NM_001204065.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 5	NM_001204066.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 6	NM_001204067.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 7	NM_001204068.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 8	NM_001204069.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 9	NM_001204070.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 10	NM_001204079.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 11	NM_001204080.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 12	NM_001204081.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 24	NM_001352189.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 25	NM_001352190.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 34	NM_001352191.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 29	NM_001352192.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 28	NM_001352193.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 32	NM_001352194.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 19	NM_001352195.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 20	NM_001352196.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 26	NM_001352197.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 17	NM_001352198.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 30	NM_001352199.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 22	NM_001352200.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 33	NM_001352201.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 23	NM_001352202.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 31	NM_001352203.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 21	NM_001352204.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 18	NM_001352205.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 27	NM_001352206.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 39	NM_001352207.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 36	NM_001352208.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 40	NM_001352209.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 43	NM_001352210.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 44	NM_001352211.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 45	NM_001352212.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 50	NM_001352213.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 51	NM_001352214.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 52	NM_001352216.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 49	NM_001352217.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 46	NM_001352218.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 35	NM_001352219.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 47	NM_001352220.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 41	NM_001352221.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 37	NM_001352222.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 38	NM_001352223.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 48	NM_001352224.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 42	NM_001352225.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 3	NM_020140.4:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant 2	NM_181670.4:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X6	XM_005269029.6:c.1272+488… XM_005269029.6:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X1	XM_006719504.5:c.1272+488… XM_006719504.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X2	XM_006719505.5:c.1272+488… XM_006719505.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X4	XM_006719507.5:c.1272+488… XM_006719507.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X5	XM_006719508.5:c.1272+488… XM_006719508.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X8	XM_006719510.5:c.1272+488… XM_006719510.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X9	XM_006719512.5:c.1272+488… XM_006719512.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X10	XM_006719513.5:c.1272+488… XM_006719513.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X11	XM_006719514.5:c.1272+488… XM_006719514.5:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X7	XM_011538571.4:c.1272+488… XM_011538571.4:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X3	XM_017019652.3:c.1272+488… XM_017019652.3:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X13	XM_024449060.2:c.12+4883G… XM_024449060.2:c.12+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X14	XM_024449061.2:c.168+4883… XM_024449061.2:c.168+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X12	XM_047429164.1:c.1272+488… XM_047429164.1:c.1272+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X15	XM_047429165.1:c.12+4883G… XM_047429165.1:c.12+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X16	XM_047429166.1:c.12+4883G… XM_047429166.1:c.12+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X17	XM_047429167.1:c.12+4883G… XM_047429167.1:c.12+4883G>T	N/A	Intron Variant
ANKS1B transcript variant X18	XM_024449065.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X20	XM_024449069.2:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X19	XM_047429168.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X21	XM_047429169.1:c.	N/A	Genic Upstream Transcript Variant
ANKS1B transcript variant X22	XM_047429170.1:c.	N/A	Genic Upstream Transcript Variant

Gene: GARIN6, golgi associated RAB2 interactor family member 6 (plus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
GARIN6 transcript	NM_153364.4:c.	N/A	Downstream 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	C=	A	T
GRCh38.p14 chr 12	NC_000012.12:g.99650184=	NC_000012.12:g.99650184C>A	NC_000012.12:g.99650184C>T
GRCh37.p13 chr 12	NC_000012.11:g.100043962=	NC_000012.11:g.100043962C>A	NC_000012.11:g.100043962C>T
ANKS1B RefSeqGene	NG_029860.2:g.339471=	NG_029860.2:g.339471G>T	NG_029860.2:g.339471G>A
ANKS1B transcript variant 16	NM_001352185.1:c.1272+4883=	NM_001352185.1:c.1272+4883G>T	NM_001352185.1:c.1272+4883G>A
ANKS1B transcript variant 13	NM_001352186.2:c.1272+4883=	NM_001352186.2:c.1272+4883G>T	NM_001352186.2:c.1272+4883G>A
ANKS1B transcript variant 15	NM_001352187.1:c.1272+4883=	NM_001352187.1:c.1272+4883G>T	NM_001352187.1:c.1272+4883G>A
ANKS1B transcript variant 14	NM_001352188.1:c.1272+4883=	NM_001352188.1:c.1272+4883G>T	NM_001352188.1:c.1272+4883G>A
ANKS1B transcript variant 1	NM_152788.4:c.1272+4883=	NM_152788.4:c.1272+4883G>T	NM_152788.4:c.1272+4883G>A
ANKS1B transcript variant X1	XM_005269028.1:c.1272+4883=	XM_005269028.1:c.1272+4883G>T	XM_005269028.1:c.1272+4883G>A
ANKS1B transcript variant X2	XM_005269029.1:c.1272+4883=	XM_005269029.1:c.1272+4883G>T	XM_005269029.1:c.1272+4883G>A
ANKS1B transcript variant X6	XM_005269029.6:c.1272+4883=	XM_005269029.6:c.1272+4883G>T	XM_005269029.6:c.1272+4883G>A
ANKS1B transcript variant X3	XM_005269030.1:c.1131+4883=	XM_005269030.1:c.1131+4883G>T	XM_005269030.1:c.1131+4883G>A
ANKS1B transcript variant X1	XM_006719504.5:c.1272+4883=	XM_006719504.5:c.1272+4883G>T	XM_006719504.5:c.1272+4883G>A
ANKS1B transcript variant X2	XM_006719505.5:c.1272+4883=	XM_006719505.5:c.1272+4883G>T	XM_006719505.5:c.1272+4883G>A
ANKS1B transcript variant X4	XM_006719507.5:c.1272+4883=	XM_006719507.5:c.1272+4883G>T	XM_006719507.5:c.1272+4883G>A
ANKS1B transcript variant X5	XM_006719508.5:c.1272+4883=	XM_006719508.5:c.1272+4883G>T	XM_006719508.5:c.1272+4883G>A
ANKS1B transcript variant X8	XM_006719510.5:c.1272+4883=	XM_006719510.5:c.1272+4883G>T	XM_006719510.5:c.1272+4883G>A
ANKS1B transcript variant X9	XM_006719512.5:c.1272+4883=	XM_006719512.5:c.1272+4883G>T	XM_006719512.5:c.1272+4883G>A
ANKS1B transcript variant X10	XM_006719513.5:c.1272+4883=	XM_006719513.5:c.1272+4883G>T	XM_006719513.5:c.1272+4883G>A
ANKS1B transcript variant X11	XM_006719514.5:c.1272+4883=	XM_006719514.5:c.1272+4883G>T	XM_006719514.5:c.1272+4883G>A
ANKS1B transcript variant X7	XM_011538571.4:c.1272+4883=	XM_011538571.4:c.1272+4883G>T	XM_011538571.4:c.1272+4883G>A
ANKS1B transcript variant X3	XM_017019652.3:c.1272+4883=	XM_017019652.3:c.1272+4883G>T	XM_017019652.3:c.1272+4883G>A
ANKS1B transcript variant X13	XM_024449060.2:c.12+4883=	XM_024449060.2:c.12+4883G>T	XM_024449060.2:c.12+4883G>A
ANKS1B transcript variant X14	XM_024449061.2:c.168+4883=	XM_024449061.2:c.168+4883G>T	XM_024449061.2:c.168+4883G>A
ANKS1B transcript variant X12	XM_047429164.1:c.1272+4883=	XM_047429164.1:c.1272+4883G>T	XM_047429164.1:c.1272+4883G>A
ANKS1B transcript variant X15	XM_047429165.1:c.12+4883=	XM_047429165.1:c.12+4883G>T	XM_047429165.1:c.12+4883G>A
ANKS1B transcript variant X16	XM_047429166.1:c.12+4883=	XM_047429166.1:c.12+4883G>T	XM_047429166.1:c.12+4883G>A
ANKS1B transcript variant X17	XM_047429167.1:c.12+4883=	XM_047429167.1:c.12+4883G>T	XM_047429167.1:c.12+4883G>A

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#.

4 SubSNP, 5 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GNOMAD	ss4257670165	Apr 27, 2021 (155)
2	TOPMED	ss4930081930	Apr 27, 2021 (155)
3	TOPMED	ss4930081931	Apr 27, 2021 (155)
4	TOMMO_GENOMICS	ss5758036907	Oct 17, 2022 (156)
5	gnomAD - Genomes	NC_000012.12 - 99650184	Apr 27, 2021 (155)
6	14KJPN	NC_000012.12 - 99650184	Oct 17, 2022 (156)
7	TopMed Submission ignored due to conflicting rows: Row 145627587 (NC_000012.12:99650183:C:A 3/264690) Row 145627588 (NC_000012.12:99650183:C:T 2/264690)	-	Apr 27, 2021 (155)
8	TopMed Submission ignored due to conflicting rows: Row 145627587 (NC_000012.12:99650183:C:A 3/264690) Row 145627588 (NC_000012.12:99650183:C:T 2/264690)	-	Apr 27, 2021 (155)
9	ALFA	NC_000012.12 - 99650184	Apr 27, 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
417096997, 91874011, 4476477385, ss4257670165, ss4930081930, ss5758036907	NC_000012.12:99650183:C:A	NC_000012.12:99650183:C:A	(self)
4476477385, ss4930081931	NC_000012.12:99650183:C:T	NC_000012.12:99650183:C:T	(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 rs1490637635

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

rs1490637635