Name: rs112950835
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.

rs112950835

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:46652162 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.01211 (228/18826, ALFA)
A=0.0069 (44/6404, 1000G_30x)
A=0.0072 (36/5008, 1000G) (+ 8 more)
A=0.0315 (141/4480, Estonian)
A=0.0213 (82/3854, ALSPAC)
A=0.0235 (87/3708, TWINSUK)
A=0.022 (22/998, GoNL)
A=0.010 (6/600, NorthernSweden)
A=0.009 (2/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.43 (6/14, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GRAMD4 : 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	18826	G=0.98789	A=0.01211, C=0.00000, T=0.00000
European	Sub	13946	G=0.98487	A=0.01513, C=0.00000, T=0.00000
African	Sub	2962	G=0.9983	A=0.0017, C=0.0000, T=0.0000
African Others	Sub	114	G=1.000	A=0.000, C=0.000, T=0.000
African American	Sub	2848	G=0.9982	A=0.0018, C=0.0000, T=0.0000
Asian	Sub	116	G=1.000	A=0.000, C=0.000, T=0.000
East Asian	Sub	88	G=1.00	A=0.00, C=0.00, T=0.00
Other Asian	Sub	28	G=1.00	A=0.00, C=0.00, T=0.00
Latin American 1	Sub	148	G=1.000	A=0.000, C=0.000, T=0.000
Latin American 2	Sub	608	G=1.000	A=0.000, C=0.000, T=0.000
South Asian	Sub	98	G=1.00	A=0.00, C=0.00, T=0.00
Other	Sub	948	G=0.987	A=0.013, C=0.000, T=0.000

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	18826	G=0.98789	A=0.01211, C=0.00000, T=0.00000
Allele Frequency Aggregator	European	Sub	13946	G=0.98487	A=0.01513, C=0.00000, T=0.00000
Allele Frequency Aggregator	African	Sub	2962	G=0.9983	A=0.0017, C=0.0000, T=0.0000
Allele Frequency Aggregator	Other	Sub	948	G=0.987	A=0.013, C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	608	G=1.000	A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	148	G=1.000	A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator	Asian	Sub	116	G=1.000	A=0.000, C=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00, C=0.00, T=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.9931	A=0.0069
1000Genomes_30x	African	Sub	1786	G=0.9983	A=0.0017
1000Genomes_30x	Europe	Sub	1266	G=0.9771	A=0.0229
1000Genomes_30x	South Asian	Sub	1202	G=0.9983	A=0.0017
1000Genomes_30x	East Asian	Sub	1170	G=0.9991	A=0.0009
1000Genomes_30x	American	Sub	980	G=0.991	A=0.009
1000Genomes	Global	Study-wide	5008	G=0.9928	A=0.0072
1000Genomes	African	Sub	1322	G=0.9977	A=0.0023
1000Genomes	East Asian	Sub	1008	G=0.9990	A=0.0010
1000Genomes	Europe	Sub	1006	G=0.9781	A=0.0219
1000Genomes	South Asian	Sub	978	G=0.998	A=0.002
1000Genomes	American	Sub	694	G=0.988	A=0.012
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9685	A=0.0315
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9787	A=0.0213
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9765	A=0.0235
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.978	A=0.022
Northern Sweden	ACPOP	Study-wide	600	G=0.990	A=0.010
Qatari	Global	Study-wide	216	G=0.991	A=0.009
The Danish reference pan genome	Danish	Study-wide	40	G=0.97	A=0.03
SGDP_PRJ	Global	Study-wide	14	G=0.43	A=0.57

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 22	NC_000022.11:g.46652162G>A
GRCh38.p14 chr 22	NC_000022.11:g.46652162G>C
GRCh38.p14 chr 22	NC_000022.11:g.46652162G>T
GRCh37.p13 chr 22	NC_000022.10:g.47048059G>A
GRCh37.p13 chr 22	NC_000022.10:g.47048059G>C
GRCh37.p13 chr 22	NC_000022.10:g.47048059G>T

Gene: GRAMD4, GRAM domain containing 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GRAMD4 transcript variant 2	NM_001366660.1:c.362-6025… NM_001366660.1:c.362-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant 1	NM_015124.5:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X2	XM_005261396.4:c.362-6025… XM_005261396.4:c.362-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X3	XM_006724169.2:c.353-6025… XM_006724169.2:c.353-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X5	XM_006724170.5:c.284-6025… XM_006724170.5:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X12	XM_011530011.2:c.284-6025… XM_011530011.2:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X13	XM_011530012.2:c.284-6025… XM_011530012.2:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X14	XM_011530014.2:c.284-6025… XM_011530014.2:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X10	XM_017028670.3:c.284-6025… XM_017028670.3:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X1	XM_047441205.1:c.371-6025… XM_047441205.1:c.371-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X4	XM_047441206.1:c.362-6025… XM_047441206.1:c.362-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X6	XM_047441207.1:c.284-6025… XM_047441207.1:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X7	XM_047441208.1:c.284-6025… XM_047441208.1:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X8	XM_047441209.1:c.284-6025… XM_047441209.1:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X9	XM_047441210.1:c.284-6025… XM_047441210.1:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X11	XM_047441211.1:c.284-6025… XM_047441211.1:c.284-6025G>A	N/A	Intron Variant
GRAMD4 transcript variant X15	XM_047441212.1:c.-42+2149… XM_047441212.1:c.-42+2149G>A	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	G=	A	C	T
GRCh38.p14 chr 22	NC_000022.11:g.46652162=	NC_000022.11:g.46652162G>A	NC_000022.11:g.46652162G>C	NC_000022.11:g.46652162G>T
GRCh37.p13 chr 22	NC_000022.10:g.47048059=	NC_000022.10:g.47048059G>A	NC_000022.10:g.47048059G>C	NC_000022.10:g.47048059G>T
GRAMD4 transcript variant 2	NM_001366660.1:c.362-6025=	NM_001366660.1:c.362-6025G>A	NM_001366660.1:c.362-6025G>C	NM_001366660.1:c.362-6025G>T
GRAMD4 transcript	NM_015124.3:c.284-6025=	NM_015124.3:c.284-6025G>A	NM_015124.3:c.284-6025G>C	NM_015124.3:c.284-6025G>T
GRAMD4 transcript variant 1	NM_015124.5:c.284-6025=	NM_015124.5:c.284-6025G>A	NM_015124.5:c.284-6025G>C	NM_015124.5:c.284-6025G>T
GRAMD4 transcript variant X1	XM_005261396.1:c.362-6025=	XM_005261396.1:c.362-6025G>A	XM_005261396.1:c.362-6025G>C	XM_005261396.1:c.362-6025G>T
GRAMD4 transcript variant X2	XM_005261396.4:c.362-6025=	XM_005261396.4:c.362-6025G>A	XM_005261396.4:c.362-6025G>C	XM_005261396.4:c.362-6025G>T
GRAMD4 transcript variant X2	XM_005261397.1:c.362-6025=	XM_005261397.1:c.362-6025G>A	XM_005261397.1:c.362-6025G>C	XM_005261397.1:c.362-6025G>T
GRAMD4 transcript variant X6	XM_005261398.1:c.284-6025=	XM_005261398.1:c.284-6025G>A	XM_005261398.1:c.284-6025G>C	XM_005261398.1:c.284-6025G>T
GRAMD4 transcript variant X4	XM_005261399.1:c.284-6025=	XM_005261399.1:c.284-6025G>A	XM_005261399.1:c.284-6025G>C	XM_005261399.1:c.284-6025G>T
GRAMD4 transcript variant X5	XM_005261400.1:c.362-6025=	XM_005261400.1:c.362-6025G>A	XM_005261400.1:c.362-6025G>C	XM_005261400.1:c.362-6025G>T
GRAMD4 transcript variant X6	XM_005261401.1:c.284-6025=	XM_005261401.1:c.284-6025G>A	XM_005261401.1:c.284-6025G>C	XM_005261401.1:c.284-6025G>T
GRAMD4 transcript variant X3	XM_006724169.2:c.353-6025=	XM_006724169.2:c.353-6025G>A	XM_006724169.2:c.353-6025G>C	XM_006724169.2:c.353-6025G>T
GRAMD4 transcript variant X5	XM_006724170.5:c.284-6025=	XM_006724170.5:c.284-6025G>A	XM_006724170.5:c.284-6025G>C	XM_006724170.5:c.284-6025G>T
GRAMD4 transcript variant X12	XM_011530011.2:c.284-6025=	XM_011530011.2:c.284-6025G>A	XM_011530011.2:c.284-6025G>C	XM_011530011.2:c.284-6025G>T
GRAMD4 transcript variant X13	XM_011530012.2:c.284-6025=	XM_011530012.2:c.284-6025G>A	XM_011530012.2:c.284-6025G>C	XM_011530012.2:c.284-6025G>T
GRAMD4 transcript variant X14	XM_011530014.2:c.284-6025=	XM_011530014.2:c.284-6025G>A	XM_011530014.2:c.284-6025G>C	XM_011530014.2:c.284-6025G>T
GRAMD4 transcript variant X10	XM_017028670.3:c.284-6025=	XM_017028670.3:c.284-6025G>A	XM_017028670.3:c.284-6025G>C	XM_017028670.3:c.284-6025G>T
GRAMD4 transcript variant X1	XM_047441205.1:c.371-6025=	XM_047441205.1:c.371-6025G>A	XM_047441205.1:c.371-6025G>C	XM_047441205.1:c.371-6025G>T
GRAMD4 transcript variant X4	XM_047441206.1:c.362-6025=	XM_047441206.1:c.362-6025G>A	XM_047441206.1:c.362-6025G>C	XM_047441206.1:c.362-6025G>T
GRAMD4 transcript variant X6	XM_047441207.1:c.284-6025=	XM_047441207.1:c.284-6025G>A	XM_047441207.1:c.284-6025G>C	XM_047441207.1:c.284-6025G>T
GRAMD4 transcript variant X7	XM_047441208.1:c.284-6025=	XM_047441208.1:c.284-6025G>A	XM_047441208.1:c.284-6025G>C	XM_047441208.1:c.284-6025G>T
GRAMD4 transcript variant X8	XM_047441209.1:c.284-6025=	XM_047441209.1:c.284-6025G>A	XM_047441209.1:c.284-6025G>C	XM_047441209.1:c.284-6025G>T
GRAMD4 transcript variant X9	XM_047441210.1:c.284-6025=	XM_047441210.1:c.284-6025G>A	XM_047441210.1:c.284-6025G>C	XM_047441210.1:c.284-6025G>T
GRAMD4 transcript variant X11	XM_047441211.1:c.284-6025=	XM_047441211.1:c.284-6025G>A	XM_047441211.1:c.284-6025G>C	XM_047441211.1:c.284-6025G>T
GRAMD4 transcript variant X15	XM_047441212.1:c.-42+2149=	XM_047441212.1:c.-42+2149G>A	XM_047441212.1:c.-42+2149G>C	XM_047441212.1:c.-42+2149G>T

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#.

35 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	COMPLETE_GENOMICS	ss168100807	Jul 04, 2010 (132)
2	1000GENOMES	ss238097390	Jul 15, 2010 (132)
3	1000GENOMES	ss244209005	Jul 15, 2010 (132)
4	ILLUMINA	ss535662484	Sep 08, 2015 (146)
5	EVA-GONL	ss995434650	Aug 21, 2014 (142)
6	1000GENOMES	ss1367489024	Aug 21, 2014 (142)
7	DDI	ss1429281475	Apr 01, 2015 (144)
8	EVA_GENOME_DK	ss1579783226	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1640162919	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1683156952	Apr 01, 2015 (144)
11	EVA_DECODE	ss1699505768	Apr 01, 2015 (144)
12	WEILL_CORNELL_DGM	ss1939006141	Feb 12, 2016 (147)
13	JJLAB	ss2030275195	Sep 14, 2016 (149)
14	HUMAN_LONGEVITY	ss2247990685	Dec 20, 2016 (150)
15	GNOMAD	ss2975321038	Nov 08, 2017 (151)
16	SWEGEN	ss3019439410	Nov 08, 2017 (151)
17	CSHL	ss3352875478	Nov 08, 2017 (151)
18	ILLUMINA	ss3628555018	Oct 12, 2018 (152)
19	EGCUT_WGS	ss3685928987	Jul 13, 2019 (153)
20	EVA_DECODE	ss3708365410	Jul 13, 2019 (153)
21	ACPOP	ss3744004048	Jul 13, 2019 (153)
22	EVA	ss3759483136	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3822641217	Jul 13, 2019 (153)
24	EVA	ss3836033035	Apr 27, 2020 (154)
25	SGDP_PRJ	ss3890724528	Apr 27, 2020 (154)
26	TOPMED	ss5112054883	Apr 27, 2021 (155)
27	TOPMED	ss5112054884	Apr 27, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5311393498	Oct 16, 2022 (156)
29	EVA	ss5441837535	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5503206858	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5619081792	Oct 16, 2022 (156)
32	SANFORD_IMAGENETICS	ss5664654553	Oct 16, 2022 (156)
33	EVA	ss5822186519	Oct 16, 2022 (156)
34	EVA	ss5882147717	Oct 16, 2022 (156)
35	EVA	ss5959513049	Oct 16, 2022 (156)
36	1000Genomes	NC_000022.10 - 47048059	Oct 12, 2018 (152)
37	1000Genomes_30x	NC_000022.11 - 46652162	Oct 16, 2022 (156)
38	The Avon Longitudinal Study of Parents and Children	NC_000022.10 - 47048059	Oct 12, 2018 (152)
39	Genetic variation in the Estonian population	NC_000022.10 - 47048059	Oct 12, 2018 (152)
40	The Danish reference pan genome	NC_000022.10 - 47048059	Apr 27, 2020 (154)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 572337605 (NC_000022.11:46652161:G:A 2282/140180) Row 572337606 (NC_000022.11:46652161:G:C 1/140180) Row 572337607 (NC_000022.11:46652161:G:T 1/140180)	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 572337605 (NC_000022.11:46652161:G:A 2282/140180) Row 572337606 (NC_000022.11:46652161:G:C 1/140180) Row 572337607 (NC_000022.11:46652161:G:T 1/140180)	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 572337605 (NC_000022.11:46652161:G:A 2282/140180) Row 572337606 (NC_000022.11:46652161:G:C 1/140180) Row 572337607 (NC_000022.11:46652161:G:T 1/140180)	-	Apr 27, 2021 (155)
44	Genome of the Netherlands Release 5	NC_000022.10 - 47048059	Apr 27, 2020 (154)
45	Northern Sweden	NC_000022.10 - 47048059	Jul 13, 2019 (153)
46	Qatari	NC_000022.10 - 47048059	Apr 27, 2020 (154)
47	SGDP_PRJ	NC_000022.10 - 47048059	Apr 27, 2020 (154)
48	TopMed Submission ignored due to conflicting rows: Row 387163830 (NC_000022.11:46652161:G:A 4230/264690) Row 387163831 (NC_000022.11:46652161:G:C 1/264690)	-	Apr 27, 2021 (155)
49	TopMed Submission ignored due to conflicting rows: Row 387163830 (NC_000022.11:46652161:G:A 4230/264690) Row 387163831 (NC_000022.11:46652161:G:C 1/264690)	-	Apr 27, 2021 (155)
50	UK 10K study - Twins	NC_000022.10 - 47048059	Oct 12, 2018 (152)
51	ALFA	NC_000022.11 - 46652162	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
ss168100807, ss1699505768	NC_000022.9:45426722:G:A	NC_000022.11:46652161:G:A	(self)
81052797, 44834642, 31667235, 5948165, 19974345, 17288913, 21048063, 42741508, 44834642, ss238097390, ss244209005, ss535662484, ss995434650, ss1367489024, ss1429281475, ss1579783226, ss1640162919, ss1683156952, ss1939006141, ss2030275195, ss2975321038, ss3019439410, ss3352875478, ss3628555018, ss3685928987, ss3744004048, ss3759483136, ss3836033035, ss3890724528, ss5441837535, ss5664654553, ss5822186519, ss5959513049	NC_000022.10:47048058:G:A	NC_000022.11:46652161:G:A	(self)
106607727, 10149850670, ss2247990685, ss3708365410, ss3822641217, ss5112054883, ss5311393498, ss5503206858, ss5619081792, ss5882147717	NC_000022.11:46652161:G:A	NC_000022.11:46652161:G:A	(self)
10149850670, ss5112054884	NC_000022.11:46652161:G:C	NC_000022.11:46652161:G:C	(self)
10149850670	NC_000022.11:46652161:G:T	NC_000022.11:46652161:G: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 rs112950835

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

rs112950835