Name: rs10419487
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.

rs10419487

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:2523624 (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 / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.300805 (79620/264690, TOPMED)
G=0.35310 (9978/28258, 14KJPN)
G=0.22921 (5640/24606, ALFA) (+ 15 more)
G=0.35346 (5924/16760, 8.3KJPN)
G=0.3217 (2060/6404, 1000G_30x)
G=0.3159 (1582/5008, 1000G)
G=0.2710 (1214/4480, Estonian)
G=0.2893 (1115/3854, ALSPAC)
G=0.3056 (1133/3708, TWINSUK)
G=0.3297 (966/2930, KOREAN)
G=0.3401 (623/1832, Korea1K)
G=0.305 (304/998, GoNL)
G=0.243 (146/600, NorthernSweden)
A=0.361 (117/324, SGDP_PRJ)
G=0.269 (58/216, Qatari)
G=0.363 (77/212, Vietnamese)
G=0.20 (8/40, GENOME_DK)
A=0.34 (13/38, 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	24606	A=0.77079	C=0.00000, G=0.22921
European	Sub	20600	A=0.75272	C=0.00000, G=0.24728
African	Sub	1818	A=0.9494	C=0.0000, G=0.0506
African Others	Sub	84	A=0.95	C=0.00, G=0.05
African American	Sub	1734	A=0.9493	C=0.0000, G=0.0507
Asian	Sub	68	A=0.91	C=0.00, G=0.09
East Asian	Sub	54	A=0.91	C=0.00, G=0.09
Other Asian	Sub	14	A=0.93	C=0.00, G=0.07
Latin American 1	Sub	90	A=0.97	C=0.00, G=0.03
Latin American 2	Sub	378	A=0.944	C=0.000, G=0.056
South Asian	Sub	58	A=0.90	C=0.00, G=0.10
Other	Sub	1594	A=0.7378	C=0.0000, G=0.2622

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=0.699195	G=0.300805
14KJPN	JAPANESE	Study-wide	28258	A=0.64690	G=0.35310
Allele Frequency Aggregator	Total	Global	24606	A=0.77079	C=0.00000, G=0.22921
Allele Frequency Aggregator	European	Sub	20600	A=0.75272	C=0.00000, G=0.24728
Allele Frequency Aggregator	African	Sub	1818	A=0.9494	C=0.0000, G=0.0506
Allele Frequency Aggregator	Other	Sub	1594	A=0.7378	C=0.0000, G=0.2622
Allele Frequency Aggregator	Latin American 2	Sub	378	A=0.944	C=0.000, G=0.056
Allele Frequency Aggregator	Latin American 1	Sub	90	A=0.97	C=0.00, G=0.03
Allele Frequency Aggregator	Asian	Sub	68	A=0.91	C=0.00, G=0.09
Allele Frequency Aggregator	South Asian	Sub	58	A=0.90	C=0.00, G=0.10
8.3KJPN	JAPANESE	Study-wide	16760	A=0.64654	G=0.35346
1000Genomes_30x	Global	Study-wide	6404	A=0.6783	G=0.3217
1000Genomes_30x	African	Sub	1786	A=0.7228	G=0.2772
1000Genomes_30x	Europe	Sub	1266	A=0.7014	G=0.2986
1000Genomes_30x	South Asian	Sub	1202	A=0.6165	G=0.3835
1000Genomes_30x	East Asian	Sub	1170	A=0.6368	G=0.3632
1000Genomes_30x	American	Sub	980	A=0.693	G=0.307
1000Genomes	Global	Study-wide	5008	A=0.6841	G=0.3159
1000Genomes	African	Sub	1322	A=0.7322	G=0.2678
1000Genomes	East Asian	Sub	1008	A=0.6409	G=0.3591
1000Genomes	Europe	Sub	1006	A=0.7107	G=0.2893
1000Genomes	South Asian	Sub	978	A=0.620	G=0.380
1000Genomes	American	Sub	694	A=0.707	G=0.293
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7290	G=0.2710
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7107	G=0.2893
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.6944	G=0.3056
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6703	G=0.3297
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6599	G=0.3401
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.695	G=0.305
Northern Sweden	ACPOP	Study-wide	600	A=0.757	G=0.243
SGDP_PRJ	Global	Study-wide	324	A=0.361	G=0.639
Qatari	Global	Study-wide	216	A=0.731	G=0.269
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.637	G=0.363
The Danish reference pan genome	Danish	Study-wide	40	A=0.80	G=0.20
Siberian	Global	Study-wide	38	A=0.34	G=0.66

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.2523624A>C
GRCh38.p14 chr 19	NC_000019.10:g.2523624A>G
GRCh37.p13 chr 19	NC_000019.9:g.2523622A>C
GRCh37.p13 chr 19	NC_000019.9:g.2523622A>G

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

Molecule type	Change	Amino acid[Codon]	SO Term
GNG7 transcript	NM_052847.3:c.-37-2899T>G	N/A	Intron Variant
GNG7 transcript variant X1	XM_047438629.1:c.-37-2899… XM_047438629.1:c.-37-2899T>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	G
GRCh38.p14 chr 19	NC_000019.10:g.2523624=	NC_000019.10:g.2523624A>C	NC_000019.10:g.2523624A>G
GRCh37.p13 chr 19	NC_000019.9:g.2523622=	NC_000019.9:g.2523622A>C	NC_000019.9:g.2523622A>G
GNG7 transcript	NM_052847.2:c.-37-2899=	NM_052847.2:c.-37-2899T>G	NM_052847.2:c.-37-2899T>C
GNG7 transcript	NM_052847.3:c.-37-2899=	NM_052847.3:c.-37-2899T>G	NM_052847.3:c.-37-2899T>C
GNG7 transcript variant X1	XM_047438629.1:c.-37-2899=	XM_047438629.1:c.-37-2899T>G	XM_047438629.1:c.-37-2899T>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#.

76 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss14718341	Dec 05, 2003 (119)
2	SSAHASNP	ss21527168	Apr 05, 2004 (121)
3	ABI	ss40978459	Mar 15, 2006 (126)
4	HGSV	ss77694159	Dec 07, 2007 (129)
5	BCMHGSC_JDW	ss90882496	Mar 24, 2008 (129)
6	HUMANGENOME_JCVI	ss96285841	Feb 06, 2009 (130)
7	1000GENOMES	ss114746038	Jan 25, 2009 (130)
8	ENSEMBL	ss136294316	Dec 01, 2009 (131)
9	ENSEMBL	ss137517370	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss168877133	Jul 04, 2010 (132)
11	BCM-HGSC-SUB	ss208436069	Jul 04, 2010 (132)
12	1000GENOMES	ss228010891	Jul 14, 2010 (132)
13	1000GENOMES	ss237579964	Jul 15, 2010 (132)
14	1000GENOMES	ss243806954	Jul 15, 2010 (132)
15	BL	ss255436819	May 09, 2011 (134)
16	GMI	ss283099524	May 04, 2012 (137)
17	GMI	ss287334141	Apr 25, 2013 (138)
18	PJP	ss292174236	May 09, 2011 (134)
19	ILLUMINA	ss479440619	May 04, 2012 (137)
20	ILLUMINA	ss483808346	May 04, 2012 (137)
21	ILLUMINA	ss532989974	Sep 08, 2015 (146)
22	TISHKOFF	ss565811827	Apr 25, 2013 (138)
23	SSMP	ss661664431	Apr 25, 2013 (138)
24	ILLUMINA	ss779587068	Aug 21, 2014 (142)
25	ILLUMINA	ss780982034	Aug 21, 2014 (142)
26	ILLUMINA	ss835058769	Aug 21, 2014 (142)
27	EVA-GONL	ss994018618	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1081714732	Aug 21, 2014 (142)
29	1000GENOMES	ss1362090438	Aug 21, 2014 (142)
30	DDI	ss1428313455	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1578527999	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1637442480	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1680436513	Apr 01, 2015 (144)
34	EVA_DECODE	ss1698081376	Apr 01, 2015 (144)
35	HAMMER_LAB	ss1809175687	Sep 08, 2015 (146)
36	WEILL_CORNELL_DGM	ss1937495902	Feb 12, 2016 (147)
37	GENOMED	ss1968593555	Jul 19, 2016 (147)
38	JJLAB	ss2029523067	Sep 14, 2016 (149)
39	USC_VALOUEV	ss2158036322	Dec 20, 2016 (150)
40	HUMAN_LONGEVITY	ss2223761204	Dec 20, 2016 (150)
41	SYSTEMSBIOZJU	ss2629260292	Nov 08, 2017 (151)
42	GRF	ss2702639841	Nov 08, 2017 (151)
43	GNOMAD	ss2959685085	Nov 08, 2017 (151)
44	SWEGEN	ss3016973594	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3028593920	Nov 08, 2017 (151)
46	CSHL	ss3352163482	Nov 08, 2017 (151)
47	ILLUMINA	ss3627872869	Oct 12, 2018 (152)
48	ILLUMINA	ss3631483915	Oct 12, 2018 (152)
49	ILLUMINA	ss3642046268	Oct 12, 2018 (152)
50	URBANLAB	ss3650853428	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3683821787	Jul 13, 2019 (153)
52	EVA_DECODE	ss3702200787	Jul 13, 2019 (153)
53	ACPOP	ss3742793056	Jul 13, 2019 (153)
54	EVA	ss3755730858	Jul 13, 2019 (153)
55	PACBIO	ss3788448044	Jul 13, 2019 (153)
56	PACBIO	ss3793371231	Jul 13, 2019 (153)
57	PACBIO	ss3798257777	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3820984242	Jul 13, 2019 (153)
59	EVA	ss3835313879	Apr 27, 2020 (154)
60	SGDP_PRJ	ss3887609152	Apr 27, 2020 (154)
61	KRGDB	ss3937541636	Apr 27, 2020 (154)
62	KOGIC	ss3980666804	Apr 27, 2020 (154)
63	TOPMED	ss5065837904	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5226396495	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5306239840	Oct 16, 2022 (156)
66	EVA	ss5315956508	Oct 16, 2022 (156)
67	EVA	ss5433144635	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5498906893	Oct 16, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5611543470	Oct 16, 2022 (156)
70	SANFORD_IMAGENETICS	ss5661839540	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5784553703	Oct 16, 2022 (156)
72	YY_MCH	ss5817344407	Oct 16, 2022 (156)
73	EVA	ss5840157823	Oct 16, 2022 (156)
74	EVA	ss5852176895	Oct 16, 2022 (156)
75	EVA	ss5927036939	Oct 16, 2022 (156)
76	EVA	ss5953269849	Oct 16, 2022 (156)
77	1000Genomes	NC_000019.9 - 2523622	Oct 12, 2018 (152)
78	1000Genomes_30x	NC_000019.10 - 2523624	Oct 16, 2022 (156)
79	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 2523622	Oct 12, 2018 (152)
80	Genetic variation in the Estonian population	NC_000019.9 - 2523622	Oct 12, 2018 (152)
81	The Danish reference pan genome	NC_000019.9 - 2523622	Apr 27, 2020 (154)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532144294 (NC_000019.10:2523623:A:C 1/140022) Row 532144295 (NC_000019.10:2523623:A:G 40936/139944)	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 532144294 (NC_000019.10:2523623:A:C 1/140022) Row 532144295 (NC_000019.10:2523623:A:G 40936/139944)	-	Apr 26, 2021 (155)
84	Genome of the Netherlands Release 5	NC_000019.9 - 2523622	Apr 27, 2020 (154)
85	KOREAN population from KRGDB	NC_000019.9 - 2523622	Apr 27, 2020 (154)
86	Korean Genome Project	NC_000019.10 - 2523624	Apr 27, 2020 (154)
87	Northern Sweden	NC_000019.9 - 2523622	Jul 13, 2019 (153)
88	Qatari	NC_000019.9 - 2523622	Apr 27, 2020 (154)
89	SGDP_PRJ	NC_000019.9 - 2523622	Apr 27, 2020 (154)
90	Siberian	NC_000019.9 - 2523622	Apr 27, 2020 (154)
91	8.3KJPN	NC_000019.9 - 2523622	Apr 26, 2021 (155)
92	14KJPN	NC_000019.10 - 2523624	Oct 16, 2022 (156)
93	TopMed	NC_000019.10 - 2523624	Apr 26, 2021 (155)
94	UK 10K study - Twins	NC_000019.9 - 2523622	Oct 12, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000019.9 - 2523622	Jul 13, 2019 (153)
96	ALFA	NC_000019.10 - 2523624	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
9930023921	NC_000019.10:2523623:A:C	NC_000019.10:2523623:A:C	(self)
ss77694159, ss90882496, ss114746038, ss168877133, ss208436069, ss255436819, ss283099524, ss287334141, ss292174236, ss483808346, ss1698081376	NC_000019.8:2474621:A:G	NC_000019.10:2523623:A:G	(self)
75457510, 41822641, 29560035, 4715067, 18632925, 44719030, 16077921, 19537824, 39626132, 10552676, 84365802, 41822641, 9248714, ss228010891, ss237579964, ss243806954, ss479440619, ss532989974, ss565811827, ss661664431, ss779587068, ss780982034, ss835058769, ss994018618, ss1081714732, ss1362090438, ss1428313455, ss1578527999, ss1637442480, ss1680436513, ss1809175687, ss1937495902, ss1968593555, ss2029523067, ss2158036322, ss2629260292, ss2702639841, ss2959685085, ss3016973594, ss3352163482, ss3627872869, ss3631483915, ss3642046268, ss3683821787, ss3742793056, ss3755730858, ss3788448044, ss3793371231, ss3798257777, ss3835313879, ss3887609152, ss3937541636, ss5226396495, ss5315956508, ss5433144635, ss5661839540, ss5840157823, ss5953269849	NC_000019.9:2523621:A:G	NC_000019.10:2523623:A:G	(self)
99069405, 37044805, 118390807, 281383568, 9930023921, ss2223761204, ss3028593920, ss3650853428, ss3702200787, ss3820984242, ss3980666804, ss5065837904, ss5306239840, ss5498906893, ss5611543470, ss5784553703, ss5817344407, ss5852176895, ss5927036939	NC_000019.10:2523623:A:G	NC_000019.10:2523623:A:G	(self)
ss14718341, ss21527168, ss40978459, ss96285841, ss136294316, ss137517370	NT_011255.14:2463621:A:G	NC_000019.10:2523623:A:G	(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 rs10419487

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

rs10419487