Name: rs56211570
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.

rs56211570

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:2518485 (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: A>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.268450 (71056/264690, TOPMED)
C=0.266430 (37297/139988, GnomAD)
C=0.31326 (8852/28258, 14KJPN) (+ 16 more)
C=0.28306 (5347/18890, ALFA)
C=0.31516 (5282/16760, 8.3KJPN)
C=0.2676 (1714/6404, 1000G_30x)
C=0.2648 (1326/5008, 1000G)
C=0.2752 (1233/4480, Estonian)
C=0.3132 (1207/3854, ALSPAC)
C=0.3306 (1226/3708, TWINSUK)
C=0.3077 (901/2928, KOREAN)
C=0.3253 (596/1832, Korea1K)
C=0.319 (318/998, GoNL)
C=0.253 (152/600, NorthernSweden)
A=0.386 (108/280, SGDP_PRJ)
C=0.250 (54/216, Qatari)
C=0.318 (68/214, Vietnamese)
C=0.23 (9/40, GENOME_DK)
A=0.35 (14/40, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: GNG7 : 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	18890	A=0.71694	C=0.28306
European	Sub	14286	A=0.69159	C=0.30841
African	Sub	2946	A=0.8248	C=0.1752
African Others	Sub	114	A=0.921	C=0.079
African American	Sub	2832	A=0.8210	C=0.1790
Asian	Sub	112	A=0.741	C=0.259
East Asian	Sub	86	A=0.74	C=0.26
Other Asian	Sub	26	A=0.73	C=0.27
Latin American 1	Sub	146	A=0.712	C=0.288
Latin American 2	Sub	610	A=0.761	C=0.239
South Asian	Sub	98	A=0.64	C=0.36
Other	Sub	692	A=0.750	C=0.250

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	A=0.731550	C=0.268450
gnomAD - Genomes	Global	Study-wide	139988	A=0.733570	C=0.266430
gnomAD - Genomes	European	Sub	75832	A=0.68712	C=0.31288
gnomAD - Genomes	African	Sub	41954	A=0.82297	C=0.17703
gnomAD - Genomes	American	Sub	13608	A=0.74544	C=0.25456
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	A=0.6633	C=0.3367
gnomAD - Genomes	East Asian	Sub	3124	A=0.7065	C=0.2935
gnomAD - Genomes	Other	Sub	2150	A=0.7000	C=0.3000
14KJPN	JAPANESE	Study-wide	28258	A=0.68674	C=0.31326
Allele Frequency Aggregator	Total	Global	18890	A=0.71694	C=0.28306
Allele Frequency Aggregator	European	Sub	14286	A=0.69159	C=0.30841
Allele Frequency Aggregator	African	Sub	2946	A=0.8248	C=0.1752
Allele Frequency Aggregator	Other	Sub	692	A=0.750	C=0.250
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.761	C=0.239
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.712	C=0.288
Allele Frequency Aggregator	Asian	Sub	112	A=0.741	C=0.259
Allele Frequency Aggregator	South Asian	Sub	98	A=0.64	C=0.36
8.3KJPN	JAPANESE	Study-wide	16760	A=0.68484	C=0.31516
1000Genomes_30x	Global	Study-wide	6404	A=0.7324	C=0.2676
1000Genomes_30x	African	Sub	1786	A=0.8432	C=0.1568
1000Genomes_30x	Europe	Sub	1266	A=0.6722	C=0.3278
1000Genomes_30x	South Asian	Sub	1202	A=0.6498	C=0.3502
1000Genomes_30x	East Asian	Sub	1170	A=0.6880	C=0.3120
1000Genomes_30x	American	Sub	980	A=0.762	C=0.238
1000Genomes	Global	Study-wide	5008	A=0.7352	C=0.2648
1000Genomes	African	Sub	1322	A=0.8419	C=0.1581
1000Genomes	East Asian	Sub	1008	A=0.6935	C=0.3065
1000Genomes	Europe	Sub	1006	A=0.6859	C=0.3141
1000Genomes	South Asian	Sub	978	A=0.656	C=0.344
1000Genomes	American	Sub	694	A=0.775	C=0.225
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7248	C=0.2752
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.6868	C=0.3132
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6694	C=0.3306
KOREAN population from KRGDB	KOREAN	Study-wide	2928	A=0.6923	C=0.3077
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6747	C=0.3253
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.681	C=0.319
Northern Sweden	ACPOP	Study-wide	600	A=0.747	C=0.253
SGDP_PRJ	Global	Study-wide	280	A=0.386	C=0.614
Qatari	Global	Study-wide	216	A=0.750	C=0.250
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.682	C=0.318
The Danish reference pan genome	Danish	Study-wide	40	A=0.78	C=0.23
Siberian	Global	Study-wide	40	A=0.35	C=0.65

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 19	NC_000019.10:g.2518485A>C
GRCh37.p13 chr 19	NC_000019.9:g.2518483A>C

Gene: GNG7, G protein subunit gamma 7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GNG7 transcript	NM_052847.3:c.81+2123T>G	N/A	Intron Variant
GNG7 transcript variant X1	XM_047438629.1:c.81+2123T… XM_047438629.1:c.81+2123T>G	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=	C
GRCh38.p14 chr 19	NC_000019.10:g.2518485=	NC_000019.10:g.2518485A>C
GRCh37.p13 chr 19	NC_000019.9:g.2518483=	NC_000019.9:g.2518483A>C
GNG7 transcript	NM_052847.2:c.81+2123=	NM_052847.2:c.81+2123T>G
GNG7 transcript	NM_052847.3:c.81+2123=	NM_052847.3:c.81+2123T>G
GNG7 transcript variant X1	XM_047438629.1:c.81+2123=	XM_047438629.1:c.81+2123T>G

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#.

66 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77142251	Dec 07, 2007 (129)
2	HGSV	ss78525934	Dec 07, 2007 (129)
3	HGSV	ss81108531	Dec 15, 2007 (130)
4	BCMHGSC_JDW	ss90882457	Mar 24, 2008 (130)
5	HUMANGENOME_JCVI	ss96276967	Feb 05, 2009 (130)
6	1000GENOMES	ss110987351	Jan 25, 2009 (130)
7	ILLUMINA-UK	ss117618724	Feb 14, 2009 (130)
8	ENSEMBL	ss133797970	Dec 01, 2009 (131)
9	COMPLETE_GENOMICS	ss168876832	Jul 04, 2010 (132)
10	BUSHMAN	ss203593899	Jul 04, 2010 (132)
11	1000GENOMES	ss211929032	Jul 14, 2010 (132)
12	1000GENOMES	ss228010863	Jul 14, 2010 (132)
13	1000GENOMES	ss237579942	Jul 15, 2010 (132)
14	1000GENOMES	ss243806933	Jul 15, 2010 (132)
15	BL	ss255436704	May 09, 2011 (134)
16	GMI	ss283099496	May 04, 2012 (137)
17	GMI	ss287334125	Apr 25, 2013 (138)
18	PJP	ss292174217	May 09, 2011 (134)
19	TISHKOFF	ss565811788	Apr 25, 2013 (138)
20	SSMP	ss661664387	Apr 25, 2013 (138)
21	EVA-GONL	ss994018558	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1081714699	Aug 21, 2014 (142)
23	1000GENOMES	ss1362090237	Aug 21, 2014 (142)
24	DDI	ss1428313425	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1578527972	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1637442400	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1680436433	Apr 01, 2015 (144)
28	EVA_DECODE	ss1698081325	Apr 01, 2015 (144)
29	WEILL_CORNELL_DGM	ss1937495834	Feb 12, 2016 (147)
30	JJLAB	ss2029523028	Sep 14, 2016 (149)
31	USC_VALOUEV	ss2158036277	Dec 20, 2016 (150)
32	HUMAN_LONGEVITY	ss2223760864	Dec 20, 2016 (150)
33	SYSTEMSBIOZJU	ss2629260257	Nov 08, 2017 (151)
34	GRF	ss2702639789	Nov 08, 2017 (151)
35	GNOMAD	ss2959684555	Nov 08, 2017 (151)
36	SWEGEN	ss3016973497	Nov 08, 2017 (151)
37	BIOINF_KMB_FNS_UNIBA	ss3028593890	Nov 08, 2017 (151)
38	CSHL	ss3352163438	Nov 08, 2017 (151)
39	URBANLAB	ss3650853396	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3683821704	Jul 13, 2019 (153)
41	EVA_DECODE	ss3702200682	Jul 13, 2019 (153)
42	ACPOP	ss3742792997	Jul 13, 2019 (153)
43	EVA	ss3755730795	Jul 13, 2019 (153)
44	PACBIO	ss3788448010	Jul 13, 2019 (153)
45	PACBIO	ss3793371195	Jul 13, 2019 (153)
46	PACBIO	ss3798257741	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3820984173	Jul 13, 2019 (153)
48	EVA	ss3835313833	Apr 27, 2020 (154)
49	EVA	ss3841279172	Apr 27, 2020 (154)
50	EVA	ss3846783051	Apr 27, 2020 (154)
51	SGDP_PRJ	ss3887609044	Apr 27, 2020 (154)
52	KRGDB	ss3937541479	Apr 27, 2020 (154)
53	KOGIC	ss3980666668	Apr 27, 2020 (154)
54	TOPMED	ss5065836565	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5226396248	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5306239652	Oct 16, 2022 (156)
57	EVA	ss5433144319	Oct 16, 2022 (156)
58	HUGCELL_USP	ss5498906754	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5611543214	Oct 16, 2022 (156)
60	SANFORD_IMAGENETICS	ss5661839437	Oct 16, 2022 (156)
61	TOMMO_GENOMICS	ss5784553365	Oct 16, 2022 (156)
62	YY_MCH	ss5817344348	Oct 16, 2022 (156)
63	EVA	ss5840157751	Oct 16, 2022 (156)
64	EVA	ss5852176865	Oct 16, 2022 (156)
65	EVA	ss5927036762	Oct 16, 2022 (156)
66	EVA	ss5953269756	Oct 16, 2022 (156)
67	1000Genomes	NC_000019.9 - 2518483	Oct 12, 2018 (152)
68	1000Genomes_30x	NC_000019.10 - 2518485	Oct 16, 2022 (156)
69	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 2518483	Oct 12, 2018 (152)
70	Genetic variation in the Estonian population	NC_000019.9 - 2518483	Oct 12, 2018 (152)
71	The Danish reference pan genome	NC_000019.9 - 2518483	Apr 27, 2020 (154)
72	gnomAD - Genomes	NC_000019.10 - 2518485	Apr 26, 2021 (155)
73	Genome of the Netherlands Release 5	NC_000019.9 - 2518483	Apr 27, 2020 (154)
74	KOREAN population from KRGDB	NC_000019.9 - 2518483	Apr 27, 2020 (154)
75	Korean Genome Project	NC_000019.10 - 2518485	Apr 27, 2020 (154)
76	Northern Sweden	NC_000019.9 - 2518483	Jul 13, 2019 (153)
77	Qatari	NC_000019.9 - 2518483	Apr 27, 2020 (154)
78	SGDP_PRJ	NC_000019.9 - 2518483	Apr 27, 2020 (154)
79	Siberian	NC_000019.9 - 2518483	Apr 27, 2020 (154)
80	8.3KJPN	NC_000019.9 - 2518483	Apr 26, 2021 (155)
81	14KJPN	NC_000019.10 - 2518485	Oct 16, 2022 (156)
82	TopMed	NC_000019.10 - 2518485	Apr 26, 2021 (155)
83	UK 10K study - Twins	NC_000019.9 - 2518483	Oct 12, 2018 (152)
84	A Vietnamese Genetic Variation Database	NC_000019.9 - 2518483	Jul 13, 2019 (153)
85	ALFA	NC_000019.10 - 2518485	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)
rs59301284	May 25, 2008 (130)
rs62121672	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77142251, ss78525934, ss81108531, ss90882457, ss110987351, ss117618724, ss168876832, ss203593899, ss211929032, ss255436704, ss283099496, ss287334125, ss292174217, ss1698081325	NC_000019.8:2469482:A:C	NC_000019.10:2518484:A:C	(self)
75457305, 41822551, 29559952, 4715040, 18632876, 44718873, 16077862, 19537756, 39626024, 10552631, 84365555, 41822551, 9248692, ss228010863, ss237579942, ss243806933, ss565811788, ss661664387, ss994018558, ss1081714699, ss1362090237, ss1428313425, ss1578527972, ss1637442400, ss1680436433, ss1937495834, ss2029523028, ss2158036277, ss2629260257, ss2702639789, ss2959684555, ss3016973497, ss3352163438, ss3683821704, ss3742792997, ss3755730795, ss3788448010, ss3793371195, ss3798257741, ss3835313833, ss3841279172, ss3887609044, ss3937541479, ss5226396248, ss5433144319, ss5661839437, ss5840157751, ss5953269756	NC_000019.9:2518482:A:C	NC_000019.10:2518484:A:C	(self)
99069149, 532142980, 37044669, 118390469, 281382229, 6021127548, ss2223760864, ss3028593890, ss3650853396, ss3702200682, ss3820984173, ss3846783051, ss3980666668, ss5065836565, ss5306239652, ss5498906754, ss5611543214, ss5784553365, ss5817344348, ss5852176865, ss5927036762	NC_000019.10:2518484:A:C	NC_000019.10:2518484:A:C	(self)
ss96276967, ss133797970	NT_011255.14:2458482:A:C	NC_000019.10:2518484:A: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 rs56211570

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

rs56211570