Name: rs10922218
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.

rs10922218

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:197405408 (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: T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.338687 (89647/264690, TOPMED)
C=0.328023 (44823/136646, GnomAD)
C=0.18171 (5134/28254, 14KJPN) (+ 8 more)
C=0.18164 (3044/16758, 8.3KJPN)
C=0.31943 (5217/16332, ALFA)
C=0.3115 (1995/6404, 1000G_30x)
C=0.3089 (1547/5008, 1000G)
C=0.2045 (596/2914, KOREAN)
C=0.296 (295/998, GoNL)
T=0.375 (90/240, SGDP_PRJ)
C=0.389 (84/216, Qatari)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CRB1 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	16332	T=0.68057	C=0.31943
European	Sub	12080	T=0.70132	C=0.29868
African	Sub	2816	T=0.5714	C=0.4286
African Others	Sub	108	T=0.574	C=0.426
African American	Sub	2708	T=0.5713	C=0.4287
Asian	Sub	108	T=0.796	C=0.204
East Asian	Sub	84	T=0.77	C=0.23
Other Asian	Sub	24	T=0.88	C=0.12
Latin American 1	Sub	146	T=0.630	C=0.370
Latin American 2	Sub	610	T=0.764	C=0.236
South Asian	Sub	94	T=0.77	C=0.23
Other	Sub	478	T=0.665	C=0.335

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
TopMed	Global	Study-wide	264690	T=0.661313	C=0.338687
gnomAD - Genomes	Global	Study-wide	136646	T=0.671977	C=0.328023
gnomAD - Genomes	European	Sub	74188	T=0.70181	C=0.29819
gnomAD - Genomes	African	Sub	40690	T=0.58415	C=0.41585
gnomAD - Genomes	American	Sub	13334	T=0.72919	C=0.27081
gnomAD - Genomes	Ashkenazi Jewish	Sub	3274	T=0.7523	C=0.2477
gnomAD - Genomes	East Asian	Sub	3058	T=0.7747	C=0.2253
gnomAD - Genomes	Other	Sub	2102	T=0.6817	C=0.3183
14KJPN	JAPANESE	Study-wide	28254	T=0.81829	C=0.18171
8.3KJPN	JAPANESE	Study-wide	16758	T=0.81836	C=0.18164
Allele Frequency Aggregator	Total	Global	16332	T=0.68057	C=0.31943
Allele Frequency Aggregator	European	Sub	12080	T=0.70132	C=0.29868
Allele Frequency Aggregator	African	Sub	2816	T=0.5714	C=0.4286
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.764	C=0.236
Allele Frequency Aggregator	Other	Sub	478	T=0.665	C=0.335
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.630	C=0.370
Allele Frequency Aggregator	Asian	Sub	108	T=0.796	C=0.204
Allele Frequency Aggregator	South Asian	Sub	94	T=0.77	C=0.23
1000Genomes_30x	Global	Study-wide	6404	T=0.6885	C=0.3115
1000Genomes_30x	African	Sub	1786	T=0.5476	C=0.4524
1000Genomes_30x	Europe	Sub	1266	T=0.6943	C=0.3057
1000Genomes_30x	South Asian	Sub	1202	T=0.7646	C=0.2354
1000Genomes_30x	East Asian	Sub	1170	T=0.7692	C=0.2308
1000Genomes_30x	American	Sub	980	T=0.748	C=0.252
1000Genomes	Global	Study-wide	5008	T=0.6911	C=0.3089
1000Genomes	African	Sub	1322	T=0.5431	C=0.4569
1000Genomes	East Asian	Sub	1008	T=0.7708	C=0.2292
1000Genomes	Europe	Sub	1006	T=0.7087	C=0.2913
1000Genomes	South Asian	Sub	978	T=0.759	C=0.241
1000Genomes	American	Sub	694	T=0.736	C=0.264
KOREAN population from KRGDB	KOREAN	Study-wide	2914	T=0.7955	C=0.2045
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.704	C=0.296
SGDP_PRJ	Global	Study-wide	240	T=0.375	C=0.625
Qatari	Global	Study-wide	216	T=0.611	C=0.389

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 1	NC_000001.11:g.197405408T>C
GRCh37.p13 chr 1	NC_000001.10:g.197374538T>C
CRB1 RefSeqGene	NG_008483.2:g.208947T>C

Gene: CRB1, crumbs cell polarity complex component 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CRB1 transcript variant 2	NM_001193640.2:c.836-1559… NM_001193640.2:c.836-15592T>C	N/A	Intron Variant
CRB1 transcript variant 3	NM_001257965.2:c.965-1559… NM_001257965.2:c.965-15592T>C	N/A	Intron Variant
CRB1 transcript variant 4	NM_001257966.2:c.1172-155… NM_001257966.2:c.1172-15592T>C	N/A	Intron Variant
CRB1 transcript variant 1	NM_201253.3:c.1172-15592T… NM_201253.3:c.1172-15592T>C	N/A	Intron Variant
CRB1 transcript variant 5	NR_047563.2:n.	N/A	Intron Variant
CRB1 transcript variant 6	NR_047564.2:n.	N/A	Intron Variant
CRB1 transcript variant X1	XM_011509365.3:c.1172-155… XM_011509365.3:c.1172-15592T>C	N/A	Intron Variant
CRB1 transcript variant X4	XM_011509367.2:c.1172-155… XM_011509367.2:c.1172-15592T>C	N/A	Intron Variant
CRB1 transcript variant X7	XM_011509369.3:c.-386-155… XM_011509369.3:c.-386-15592T>C	N/A	Intron Variant
CRB1 transcript variant X8	XM_017000852.2:c.1172-155… XM_017000852.2:c.1172-15592T>C	N/A	Intron Variant
CRB1 transcript variant X2	XM_047416572.1:c.965-1559… XM_047416572.1:c.965-15592T>C	N/A	Intron Variant
CRB1 transcript variant X3	XM_047416573.1:c.965-1559… XM_047416573.1:c.965-15592T>C	N/A	Intron Variant
CRB1 transcript variant X5	XM_047416574.1:c.836-1559… XM_047416574.1:c.836-15592T>C	N/A	Intron Variant
CRB1 transcript variant X6	XM_047416575.1:c.311-1559… XM_047416575.1:c.311-15592T>C	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	T=	C
GRCh38.p14 chr 1	NC_000001.11:g.197405408=	NC_000001.11:g.197405408T>C
GRCh37.p13 chr 1	NC_000001.10:g.197374538=	NC_000001.10:g.197374538T>C
CRB1 RefSeqGene	NG_008483.2:g.208947=	NG_008483.2:g.208947T>C
CRB1 transcript variant 2	NM_001193640.1:c.836-15592=	NM_001193640.1:c.836-15592T>C
CRB1 transcript variant 2	NM_001193640.2:c.836-15592=	NM_001193640.2:c.836-15592T>C
CRB1 transcript variant 3	NM_001257965.1:c.965-15592=	NM_001257965.1:c.965-15592T>C
CRB1 transcript variant 3	NM_001257965.2:c.965-15592=	NM_001257965.2:c.965-15592T>C
CRB1 transcript variant 4	NM_001257966.1:c.1172-15592=	NM_001257966.1:c.1172-15592T>C
CRB1 transcript variant 4	NM_001257966.2:c.1172-15592=	NM_001257966.2:c.1172-15592T>C
CRB1 transcript variant 1	NM_201253.2:c.1172-15592=	NM_201253.2:c.1172-15592T>C
CRB1 transcript variant 1	NM_201253.3:c.1172-15592=	NM_201253.3:c.1172-15592T>C
CRB1 transcript variant X1	XM_011509365.3:c.1172-15592=	XM_011509365.3:c.1172-15592T>C
CRB1 transcript variant X4	XM_011509367.2:c.1172-15592=	XM_011509367.2:c.1172-15592T>C
CRB1 transcript variant X7	XM_011509369.3:c.-386-15592=	XM_011509369.3:c.-386-15592T>C
CRB1 transcript variant X8	XM_017000852.2:c.1172-15592=	XM_017000852.2:c.1172-15592T>C
CRB1 transcript variant X2	XM_047416572.1:c.965-15592=	XM_047416572.1:c.965-15592T>C
CRB1 transcript variant X3	XM_047416573.1:c.965-15592=	XM_047416573.1:c.965-15592T>C
CRB1 transcript variant X5	XM_047416574.1:c.836-15592=	XM_047416574.1:c.836-15592T>C
CRB1 transcript variant X6	XM_047416575.1:c.311-15592=	XM_047416575.1:c.311-15592T>C

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#.

27 SubSNP, 11 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	CSHL-HAPMAP	ss16384221	Feb 27, 2004 (120)
2	SC_SNP	ss19058856	Feb 27, 2004 (120)
3	BCM-HGSC-SUB	ss205530463	Jul 04, 2010 (142)
4	1000GENOMES	ss329138300	May 09, 2011 (134)
5	SSMP	ss648610159	Apr 25, 2013 (138)
6	EVA-GONL	ss976000568	Aug 21, 2014 (142)
7	1000GENOMES	ss1294118236	Aug 21, 2014 (142)
8	WEILL_CORNELL_DGM	ss1919231841	Feb 12, 2016 (147)
9	GRF	ss2698150533	Nov 08, 2017 (151)
10	GNOMAD	ss2764711758	Nov 08, 2017 (151)
11	SWEGEN	ss2988230179	Nov 08, 2017 (151)
12	URBANLAB	ss3646857860	Oct 11, 2018 (152)
13	EVA	ss3747170624	Jul 12, 2019 (153)
14	KHV_HUMAN_GENOMES	ss3800177991	Jul 12, 2019 (153)
15	SGDP_PRJ	ss3850623816	Apr 25, 2020 (154)
16	KRGDB	ss3895902763	Apr 25, 2020 (154)
17	TOPMED	ss4478896505	Apr 25, 2021 (155)
18	TOMMO_GENOMICS	ss5147826570	Apr 25, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5245329698	Oct 13, 2022 (156)
20	EVA	ss5323939563	Oct 13, 2022 (156)
21	EVA	ss5506142093	Oct 13, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5519197999	Oct 13, 2022 (156)
23	SANFORD_IMAGENETICS	ss5627185573	Oct 13, 2022 (156)
24	TOMMO_GENOMICS	ss5675408556	Oct 13, 2022 (156)
25	YY_MCH	ss5801521289	Oct 13, 2022 (156)
26	EVA	ss5833073545	Oct 13, 2022 (156)
27	EVA	ss5939009330	Oct 13, 2022 (156)
28	1000Genomes	NC_000001.10 - 197374538	Oct 11, 2018 (152)
29	1000Genomes_30x	NC_000001.11 - 197405408	Oct 13, 2022 (156)
30	gnomAD - Genomes	NC_000001.11 - 197405408	Apr 25, 2021 (155)
31	Genome of the Netherlands Release 5	NC_000001.10 - 197374538	Apr 25, 2020 (154)
32	KOREAN population from KRGDB	NC_000001.10 - 197374538	Apr 25, 2020 (154)
33	Qatari	NC_000001.10 - 197374538	Apr 25, 2020 (154)
34	SGDP_PRJ	NC_000001.10 - 197374538	Apr 25, 2020 (154)
35	8.3KJPN	NC_000001.10 - 197374538	Apr 25, 2021 (155)
36	14KJPN	NC_000001.11 - 197405408	Oct 13, 2022 (156)
37	TopMed	NC_000001.11 - 197405408	Apr 25, 2021 (155)
38	ALFA	NC_000001.11 - 197405408	Apr 25, 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)
rs113472322	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss205530463	NC_000001.9:195641160:T:C	NC_000001.11:197405407:T:C	(self)
4953543, 1187724, 3080157, 1273771, 2640796, 5795877, ss329138300, ss648610159, ss976000568, ss1294118236, ss1919231841, ss2698150533, ss2764711758, ss2988230179, ss3747170624, ss3850623816, ss3895902763, ss5147826570, ss5323939563, ss5506142093, ss5627185573, ss5833073545, ss5939009330	NC_000001.10:197374537:T:C	NC_000001.11:197405407:T:C	(self)
6723934, 35725924, 9245660, 42502840, 1881379161, ss3646857860, ss3800177991, ss4478896505, ss5245329698, ss5519197999, ss5675408556, ss5801521289	NC_000001.11:197405407:T:C	NC_000001.11:197405407:T:C	(self)
ss19058856	NT_004487.19:48863179:T:C	NC_000001.11:197405407:T:C	(self)
ss16384221	NT_004671.15:8729523:T:C	NC_000001.11:197405407:T:C	(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 rs10922218

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10922218