Name: rs906807
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.

rs906807

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:9117869 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.210922 (55829/264690, TOPMED)
T=0.211644 (29648/140084, GnomAD)
T=0.199924 (24240/121246, ExAC) (+ 21 more)
T=0.17946 (8853/49332, ALFA)
T=0.39352 (11120/28258, 14KJPN)
T=0.39314 (6589/16760, 8.3KJPN)
T=0.2194 (1405/6404, 1000G_30x)
T=0.2210 (1107/5008, 1000G)
T=0.2038 (913/4480, Estonian)
T=0.1689 (651/3854, ALSPAC)
T=0.1853 (687/3708, TWINSUK)
T=0.3840 (1125/2930, KOREAN)
T=0.3876 (710/1832, Korea1K)
T=0.205 (205/998, GoNL)
T=0.000 (0/792, PRJEB37584)
T=0.283 (174/614, Vietnamese)
T=0.208 (125/600, NorthernSweden)
T=0.208 (111/534, MGP)
T=0.161 (85/528, SGDP_PRJ)
T=0.209 (68/326, HapMap)
T=0.201 (61/304, FINRISK)
T=0.130 (28/216, Qatari)
T=0.15 (8/52, Siberian)
T=0.20 (8/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NDUFV2 : Missense Variant
Publications: 6 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	65590	T=0.18570	C=0.81430
European	Sub	47326	T=0.17806	C=0.82194
African	Sub	8382	T=0.2317	C=0.7683
African Others	Sub	304	T=0.257	C=0.743
African American	Sub	8078	T=0.2308	C=0.7692
Asian	Sub	168	T=0.274	C=0.726
East Asian	Sub	112	T=0.286	C=0.714
Other Asian	Sub	56	T=0.25	C=0.75
Latin American 1	Sub	500	T=0.192	C=0.808
Latin American 2	Sub	628	T=0.236	C=0.764
South Asian	Sub	98	T=0.15	C=0.85
Other	Sub	8488	T=0.1774	C=0.8226

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.210922	C=0.789078
gnomAD - Genomes	Global	Study-wide	140084	T=0.211644	C=0.788356
gnomAD - Genomes	European	Sub	75886	T=0.19237	C=0.80763
gnomAD - Genomes	African	Sub	41950	T=0.24081	C=0.75919
gnomAD - Genomes	American	Sub	13648	T=0.24311	C=0.75689
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.1081	C=0.8919
gnomAD - Genomes	East Asian	Sub	3128	T=0.2644	C=0.7356
gnomAD - Genomes	Other	Sub	2150	T=0.2065	C=0.7935
ExAC	Global	Study-wide	121246	T=0.199924	C=0.800076
ExAC	Europe	Sub	73276	T=0.19096	C=0.80904
ExAC	Asian	Sub	25160	T=0.19122	C=0.80878
ExAC	American	Sub	11574	T=0.23890	C=0.76110
ExAC	African	Sub	10328	T=0.24070	C=0.75930
ExAC	Other	Sub	908	T=0.204	C=0.796
Allele Frequency Aggregator	Total	Global	49332	T=0.17946	C=0.82054
Allele Frequency Aggregator	European	Sub	37296	T=0.17439	C=0.82561
Allele Frequency Aggregator	Other	Sub	7068	T=0.1746	C=0.8254
Allele Frequency Aggregator	African	Sub	3574	T=0.2266	C=0.7734
Allele Frequency Aggregator	Latin American 2	Sub	628	T=0.236	C=0.764
Allele Frequency Aggregator	Latin American 1	Sub	500	T=0.192	C=0.808
Allele Frequency Aggregator	Asian	Sub	168	T=0.274	C=0.726
Allele Frequency Aggregator	South Asian	Sub	98	T=0.15	C=0.85
14KJPN	JAPANESE	Study-wide	28258	T=0.39352	C=0.60648
8.3KJPN	JAPANESE	Study-wide	16760	T=0.39314	C=0.60686
1000Genomes_30x	Global	Study-wide	6404	T=0.2194	C=0.7806
1000Genomes_30x	African	Sub	1786	T=0.2626	C=0.7374
1000Genomes_30x	Europe	Sub	1266	T=0.1619	C=0.8381
1000Genomes_30x	South Asian	Sub	1202	T=0.1631	C=0.8369
1000Genomes_30x	East Asian	Sub	1170	T=0.2889	C=0.7111
1000Genomes_30x	American	Sub	980	T=0.201	C=0.799
1000Genomes	Global	Study-wide	5008	T=0.2210	C=0.7790
1000Genomes	African	Sub	1322	T=0.2632	C=0.7368
1000Genomes	East Asian	Sub	1008	T=0.2937	C=0.7063
1000Genomes	Europe	Sub	1006	T=0.1690	C=0.8310
1000Genomes	South Asian	Sub	978	T=0.160	C=0.840
1000Genomes	American	Sub	694	T=0.197	C=0.803
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2038	C=0.7962
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.1689	C=0.8311
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.1853	C=0.8147
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3840	A=0.0000, C=0.6160, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3876	C=0.6124
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.205	C=0.795
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.000	C=1.000
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.000	C=1.000
A Vietnamese Genetic Variation Database	Global	Study-wide	614	T=0.283	C=0.717
Northern Sweden	ACPOP	Study-wide	600	T=0.208	C=0.792
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.208	C=0.792
SGDP_PRJ	Global	Study-wide	528	T=0.161	C=0.839
HapMap	Global	Study-wide	326	T=0.209	C=0.791
HapMap	African	Sub	120	T=0.217	C=0.783
HapMap	American	Sub	118	T=0.127	C=0.873
HapMap	Asian	Sub	88	T=0.31	C=0.69
FINRISK	Finnish from FINRISK project	Study-wide	304	T=0.201	C=0.799
Qatari	Global	Study-wide	216	T=0.130	C=0.870
Siberian	Global	Study-wide	52	T=0.15	C=0.85
The Danish reference pan genome	Danish	Study-wide	40	T=0.20	C=0.80

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 18	NC_000018.10:g.9117869T>A
GRCh38.p14 chr 18	NC_000018.10:g.9117869T>C
GRCh38.p14 chr 18	NC_000018.10:g.9117869T>G
GRCh37.p13 chr 18	NC_000018.9:g.9117867T>A
GRCh37.p13 chr 18	NC_000018.9:g.9117867T>C
GRCh37.p13 chr 18	NC_000018.9:g.9117867T>G
NDUFV2 RefSeqGene	NG_013355.1:g.20240T>A
NDUFV2 RefSeqGene	NG_013355.1:g.20240T>C
NDUFV2 RefSeqGene	NG_013355.1:g.20240T>G

Gene: NDUFV2, NADH:ubiquinone oxidoreductase core subunit V2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NDUFV2 transcript	NM_021074.5:c.86T>A	V [GTT] > D [GAT]	Coding Sequence Variant
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor	NP_066552.2:p.Val29Asp	V (Val) > D (Asp)	Missense Variant
NDUFV2 transcript	NM_021074.5:c.86T>C	V [GTT] > A [GCT]	Coding Sequence Variant
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor	NP_066552.2:p.Val29Ala	V (Val) > A (Ala)	Missense Variant
NDUFV2 transcript	NM_021074.5:c.86T>G	V [GTT] > G [GGT]	Coding Sequence Variant
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor	NP_066552.2:p.Val29Gly	V (Val) > G (Gly)	Missense Variant
NDUFV2 transcript variant X1	XM_017025782.2:c.-2=	N/A	5 Prime UTR Variant
NDUFV2 transcript variant X2	XR_243808.4:n.131T>A	N/A	Non Coding Transcript Variant
NDUFV2 transcript variant X2	XR_243808.4:n.131T>C	N/A	Non Coding Transcript Variant
NDUFV2 transcript variant X2	XR_243808.4:n.131T>G	N/A	Non Coding 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.

Allele: C (allele ID: 24093 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000009621.3	Parkinson disease, mitochondrial	Uncertain-Significance
RCV000117718.9	not specified	Benign
RCV000312272.4	Mitochondrial complex I deficiency, nuclear type 1	Benign
RCV000676827.7	not provided	Benign
RCV001000212.9	Mitochondrial complex 1 deficiency, nuclear type 7	Benign

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=	A	C	G
GRCh38.p14 chr 18	NC_000018.10:g.9117869=	NC_000018.10:g.9117869T>A	NC_000018.10:g.9117869T>C	NC_000018.10:g.9117869T>G
GRCh37.p13 chr 18	NC_000018.9:g.9117867=	NC_000018.9:g.9117867T>A	NC_000018.9:g.9117867T>C	NC_000018.9:g.9117867T>G
NDUFV2 RefSeqGene	NG_013355.1:g.20240=	NG_013355.1:g.20240T>A	NG_013355.1:g.20240T>C	NG_013355.1:g.20240T>G
NDUFV2 transcript	NM_021074.5:c.86=	NM_021074.5:c.86T>A	NM_021074.5:c.86T>C	NM_021074.5:c.86T>G
NDUFV2 transcript	NM_021074.4:c.86=	NM_021074.4:c.86T>A	NM_021074.4:c.86T>C	NM_021074.4:c.86T>G
NDUFV2 transcript variant X2	XR_243808.4:n.131=	XR_243808.4:n.131T>A	XR_243808.4:n.131T>C	XR_243808.4:n.131T>G
NDUFV2 transcript variant X3	XR_243808.3:n.103=	XR_243808.3:n.103T>A	XR_243808.3:n.103T>C	XR_243808.3:n.103T>G
NDUFV2 transcript variant X2	XR_243808.2:n.207=	XR_243808.2:n.207T>A	XR_243808.2:n.207T>C	XR_243808.2:n.207T>G
NDUFV2 transcript variant X1	XR_243808.1:n.188=	XR_243808.1:n.188T>A	XR_243808.1:n.188T>C	XR_243808.1:n.188T>G
NDUFV2 transcript variant X1	XM_017025782.2:c.-2=	XM_017025782.2:c.-2T>A	XM_017025782.2:c.-2T>C	XM_017025782.2:c.-2T>G
NDUFV2 transcript variant X2	XM_017025782.1:c.-2=	XM_017025782.1:c.-2T>A	XM_017025782.1:c.-2T>C	XM_017025782.1:c.-2T>G
NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial precursor	NP_066552.2:p.Val29=	NP_066552.2:p.Val29Asp	NP_066552.2:p.Val29Ala	NP_066552.2:p.Val29Gly

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#.

120 SubSNP, 26 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1340074	Oct 05, 2000 (86)
2	HGBASE	ss2419881	Nov 14, 2000 (89)
3	RIKENSNPRC	ss5603321	Dec 12, 2002 (110)
4	SSAHASNP	ss21496288	Apr 05, 2004 (121)
5	ABI	ss44127695	Mar 13, 2006 (126)
6	APPLERA_GI	ss48428664	Mar 13, 2006 (126)
7	PERLEGEN	ss69207311	May 18, 2007 (127)
8	AFFY	ss74809739	Aug 16, 2007 (128)
9	SI_EXO	ss76883985	Dec 07, 2007 (129)
10	BCMHGSC_JDW	ss90709142	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss96323538	Feb 05, 2009 (130)
12	1000GENOMES	ss110133979	Jan 24, 2009 (130)
13	1000GENOMES	ss114049980	Jan 25, 2009 (130)
14	ILLUMINA	ss120036373	Dec 01, 2009 (131)
15	ENSEMBL	ss136327943	Dec 01, 2009 (131)
16	ENSEMBL	ss137257234	Dec 01, 2009 (131)
17	GMI	ss154830623	Dec 01, 2009 (131)
18	SEATTLESEQ	ss159736938	Dec 01, 2009 (131)
19	ILLUMINA	ss160965942	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss167774328	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss169074767	Jul 04, 2010 (132)
22	ILLUMINA	ss169108144	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss171489764	Jul 04, 2010 (132)
24	BUSHMAN	ss202970775	Jul 04, 2010 (132)
25	1000GENOMES	ss227735086	Jul 14, 2010 (132)
26	1000GENOMES	ss237377715	Jul 15, 2010 (132)
27	1000GENOMES	ss243646484	Jul 15, 2010 (132)
28	OMICIA	ss244239662	May 27, 2010 (132)
29	ILLUMINA	ss244313703	Jul 04, 2010 (132)
30	BL	ss255479829	May 09, 2011 (134)
31	GMI	ss282898050	May 04, 2012 (137)
32	GMI	ss287241366	Apr 25, 2013 (138)
33	OMIM-CURATED-RECORDS	ss290085500	Jan 11, 2011 (133)
34	PJP	ss292126594	May 09, 2011 (134)
35	NHLBI-ESP	ss342471078	May 09, 2011 (134)
36	ILLUMINA	ss482826584	Sep 08, 2015 (146)
37	1000GENOMES	ss491136779	May 04, 2012 (137)
38	EXOME_CHIP	ss491531206	May 04, 2012 (137)
39	CLINSEQ_SNP	ss491747547	May 04, 2012 (137)
40	TISHKOFF	ss565500302	Apr 25, 2013 (138)
41	SSMP	ss661318427	Apr 25, 2013 (138)
42	JMKIDD_LAB	ss974501486	Aug 21, 2014 (142)
43	EVA-GONL	ss993480995	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss1067577800	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1081322112	Aug 21, 2014 (142)
46	1000GENOMES	ss1360085974	Aug 21, 2014 (142)
47	DDI	ss1428142957	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1578306066	Apr 01, 2015 (144)
49	EVA_FINRISK	ss1584110209	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1636387077	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1679381110	Apr 01, 2015 (144)
52	EVA_EXAC	ss1693079724	Apr 01, 2015 (144)
53	EVA_DECODE	ss1697534404	Apr 01, 2015 (144)
54	EVA_MGP	ss1711480088	Apr 01, 2015 (144)
55	HAMMER_LAB	ss1808950953	Sep 08, 2015 (146)
56	WEILL_CORNELL_DGM	ss1936951969	Feb 12, 2016 (147)
57	ILLUMINA	ss1959786940	Feb 12, 2016 (147)
58	GENOMED	ss1968467996	Jul 19, 2016 (147)
59	JJLAB	ss2029248604	Sep 14, 2016 (149)
60	USC_VALOUEV	ss2157743866	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2219734291	Dec 20, 2016 (150)
62	SYSTEMSBIOZJU	ss2629121750	Nov 08, 2017 (151)
63	GRF	ss2702315258	Nov 08, 2017 (151)
64	GNOMAD	ss2743185069	Nov 08, 2017 (151)
65	GNOMAD	ss2749923201	Nov 08, 2017 (151)
66	GNOMAD	ss2953981748	Nov 08, 2017 (151)
67	SWEGEN	ss3016137874	Nov 08, 2017 (151)
68	ILLUMINA	ss3021823139	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3028450824	Nov 08, 2017 (151)
70	CSHL	ss3351912304	Nov 08, 2017 (151)
71	ILLUMINA	ss3636384053	Oct 12, 2018 (152)
72	ILLUMINA	ss3638183223	Oct 12, 2018 (152)
73	OMUKHERJEE_ADBS	ss3646520127	Oct 12, 2018 (152)
74	URBANLAB	ss3650737755	Oct 12, 2018 (152)
75	ILLUMINA	ss3652242368	Oct 12, 2018 (152)
76	EGCUT_WGS	ss3682995847	Jul 13, 2019 (153)
77	EVA_DECODE	ss3701197170	Jul 13, 2019 (153)
78	ACPOP	ss3742342978	Jul 13, 2019 (153)
79	EVA	ss3755106325	Jul 13, 2019 (153)
80	PACBIO	ss3788308718	Jul 13, 2019 (153)
81	PACBIO	ss3793249346	Jul 13, 2019 (153)
82	PACBIO	ss3798135573	Jul 13, 2019 (153)
83	KHV_HUMAN_GENOMES	ss3820370919	Jul 13, 2019 (153)
84	EVA	ss3825178261	Apr 27, 2020 (154)
85	EVA	ss3825912831	Apr 27, 2020 (154)
86	EVA	ss3835053931	Apr 27, 2020 (154)
87	EVA	ss3841140667	Apr 27, 2020 (154)
88	EVA	ss3846640303	Apr 27, 2020 (154)
89	SGDP_PRJ	ss3886524052	Apr 27, 2020 (154)
90	KRGDB	ss3936331653	Apr 27, 2020 (154)
91	KOGIC	ss3979584130	Apr 27, 2020 (154)
92	FSA-LAB	ss3984129499	Apr 27, 2021 (155)
93	EVA	ss3984729419	Apr 27, 2021 (155)
94	EVA	ss3986076891	Apr 27, 2021 (155)
95	EVA	ss3986752599	Apr 27, 2021 (155)
96	TOPMED	ss5048331405	Apr 27, 2021 (155)
97	TOMMO_GENOMICS	ss5224114690	Apr 27, 2021 (155)
98	EVA	ss5236949311	Apr 27, 2021 (155)
99	EVA	ss5237242247	Apr 27, 2021 (155)
100	EVA	ss5237670367	Oct 16, 2022 (156)
101	1000G_HIGH_COVERAGE	ss5304430640	Oct 16, 2022 (156)
102	EVA	ss5429911989	Oct 16, 2022 (156)
103	HUGCELL_USP	ss5497340681	Oct 16, 2022 (156)
104	EVA	ss5511859578	Oct 16, 2022 (156)
105	1000G_HIGH_COVERAGE	ss5608747786	Oct 16, 2022 (156)
106	EVA	ss5623973699	Oct 16, 2022 (156)
107	EVA	ss5624078832	Oct 16, 2022 (156)
108	SANFORD_IMAGENETICS	ss5660825095	Oct 16, 2022 (156)
109	TOMMO_GENOMICS	ss5780868658	Oct 16, 2022 (156)
110	EVA	ss5800071893	Oct 16, 2022 (156)
111	EVA	ss5800213794	Oct 16, 2022 (156)
112	YY_MCH	ss5816856973	Oct 16, 2022 (156)
113	EVA	ss5827224832	Oct 16, 2022 (156)
114	EVA	ss5848464939	Oct 16, 2022 (156)
115	EVA	ss5851960438	Oct 16, 2022 (156)
116	EVA	ss5873153912	Oct 16, 2022 (156)
117	EVA	ss5936569908	Oct 16, 2022 (156)
118	EVA	ss5952226359	Oct 16, 2022 (156)
119	EVA	ss5980995104	Oct 16, 2022 (156)
120	EVA	ss5981305277	Oct 16, 2022 (156)
121	1000Genomes	NC_000018.9 - 9117867	Oct 12, 2018 (152)
122	1000Genomes_30x	NC_000018.10 - 9117869	Oct 16, 2022 (156)
123	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 9117867	Oct 12, 2018 (152)
124	Genetic variation in the Estonian population	NC_000018.9 - 9117867	Oct 12, 2018 (152)
125	ExAC	NC_000018.9 - 9117867	Oct 12, 2018 (152)
126	FINRISK	NC_000018.9 - 9117867	Apr 27, 2020 (154)
127	The Danish reference pan genome	NC_000018.9 - 9117867	Apr 27, 2020 (154)
128	gnomAD - Genomes	NC_000018.10 - 9117869	Apr 27, 2021 (155)
129	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12495128 (NC_000018.9:9117866:T:T 50619/251114, NC_000018.9:9117866:T:C 200495/251114) Row 12495129 (NC_000018.9:9117866:T:T 251113/251114, NC_000018.9:9117866:T:G 1/251114)	-	Jul 13, 2019 (153)
130	gnomAD - Exomes Submission ignored due to conflicting rows: Row 12495128 (NC_000018.9:9117866:T:T 50619/251114, NC_000018.9:9117866:T:C 200495/251114) Row 12495129 (NC_000018.9:9117866:T:T 251113/251114, NC_000018.9:9117866:T:G 1/251114)	-	Jul 13, 2019 (153)
131	Genome of the Netherlands Release 5	NC_000018.9 - 9117867	Apr 27, 2020 (154)
132	HapMap	NC_000018.10 - 9117869	Apr 27, 2020 (154)
133	KOREAN population from KRGDB	NC_000018.9 - 9117867	Apr 27, 2020 (154)
134	Korean Genome Project	NC_000018.10 - 9117869	Apr 27, 2020 (154)
135	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 9117867	Apr 27, 2020 (154)
136	Northern Sweden	NC_000018.9 - 9117867	Jul 13, 2019 (153)
137	CNV burdens in cranial meningiomas	NC_000018.9 - 9117867	Apr 27, 2021 (155)
138	Qatari	NC_000018.9 - 9117867	Apr 27, 2020 (154)
139	SGDP_PRJ	NC_000018.9 - 9117867	Apr 27, 2020 (154)
140	Siberian	NC_000018.9 - 9117867	Apr 27, 2020 (154)
141	8.3KJPN	NC_000018.9 - 9117867	Apr 27, 2021 (155)
142	14KJPN	NC_000018.10 - 9117869	Oct 16, 2022 (156)
143	TopMed	NC_000018.10 - 9117869	Apr 27, 2021 (155)
144	UK 10K study - Twins	NC_000018.9 - 9117867	Oct 12, 2018 (152)
145	A Vietnamese Genetic Variation Database	NC_000018.9 - 9117867	Jul 13, 2019 (153)
146	ALFA	NC_000018.10 - 9117869	Apr 27, 2021 (155)
147	ClinVar	RCV000009621.3	Oct 16, 2022 (156)
148	ClinVar	RCV000117718.9	Oct 16, 2022 (156)
149	ClinVar	RCV000312272.4	Oct 16, 2022 (156)
150	ClinVar	RCV000676827.7	Oct 16, 2022 (156)
151	ClinVar	RCV001000212.9	Oct 16, 2022 (156)

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)
rs52810649	Sep 21, 2007 (128)
rs117087551	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43509047, ss3936331653	NC_000018.9:9117866:T:A	NC_000018.10:9117868:T:A	(self)
ss90709142, ss110133979, ss114049980, ss167774328, ss169074767, ss171489764, ss202970775, ss244313703, ss255479829, ss282898050, ss287241366, ss292126594, ss491747547, ss1697534404	NC_000018.8:9107866:T:C	NC_000018.10:9117868:T:C	(self)
73381967, 40661924, 28734095, 3545564, 106670, 4502273, 18115404, 43509047, 595848, 15627843, 278969, 18993891, 38541032, 10260220, 82083997, 40661924, 8988340, ss227735086, ss237377715, ss243646484, ss342471078, ss482826584, ss491136779, ss491531206, ss565500302, ss661318427, ss974501486, ss993480995, ss1067577800, ss1081322112, ss1360085974, ss1428142957, ss1578306066, ss1584110209, ss1636387077, ss1679381110, ss1693079724, ss1711480088, ss1808950953, ss1936951969, ss1959786940, ss1968467996, ss2029248604, ss2157743866, ss2629121750, ss2702315258, ss2743185069, ss2749923201, ss2953981748, ss3016137874, ss3021823139, ss3351912304, ss3636384053, ss3638183223, ss3646520127, ss3652242368, ss3682995847, ss3742342978, ss3755106325, ss3788308718, ss3793249346, ss3798135573, ss3825178261, ss3825912831, ss3835053931, ss3841140667, ss3886524052, ss3936331653, ss3984129499, ss3984729419, ss3986076891, ss3986752599, ss5224114690, ss5429911989, ss5511859578, ss5623973699, ss5624078832, ss5660825095, ss5800071893, ss5800213794, ss5827224832, ss5848464939, ss5936569908, ss5952226359, ss5980995104, ss5981305277	NC_000018.9:9117866:T:C	NC_000018.10:9117868:T:C	(self)
RCV000009621.3, RCV000117718.9, RCV000312272.4, RCV000676827.7, RCV001000212.9, 96273721, 517691067, 1552222, 35962131, 114705762, 263877068, 3579816572, ss244239662, ss290085500, ss2219734291, ss3028450824, ss3650737755, ss3701197170, ss3820370919, ss3846640303, ss3979584130, ss5048331405, ss5236949311, ss5237242247, ss5237670367, ss5304430640, ss5497340681, ss5608747786, ss5780868658, ss5816856973, ss5851960438, ss5873153912	NC_000018.10:9117868:T:C	NC_000018.10:9117868:T:C	(self)
ss21496288	NT_010859.13:9107866:T:C	NC_000018.10:9117868:T:C	(self)
ss1340074, ss2419881, ss5603321, ss44127695, ss48428664, ss69207311, ss74809739, ss76883985, ss96323538, ss120036373, ss136327943, ss137257234, ss154830623, ss159736938, ss160965942, ss169108144	NT_010859.14:9107866:T:C	NC_000018.10:9117868:T:C	(self)
43509047, ss2743185069, ss3936331653	NC_000018.9:9117866:T:G	NC_000018.10:9117868:T:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

6 citations for rs906807

PMID	Title	Author	Year	Journal
9570948	Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease.	Hattori N et al.	1998	Genomics
16436204	GPNN: power studies and applications of a neural network method for detecting gene-gene interactions in studies of human disease.	Motsinger AA et al.	2006	BMC bioinformatics
17601350	A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.	Harris SE et al.	2007	BMC genetics
19194776	Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population.	Zhang J et al.	2009	Journal of neural transmission (Vienna, Austria
20819849	The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.	Tuppen HA et al.	2010	Brain
20978456	Association study of polymorphisms in the autosomal mitochondrial complex I subunit gene, NADH dehydrogenase (ubiquinone) flavoprotein 2, and bipolar disorder.	Doyle GA et al.	2011	Psychiatric genetics

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

rs906807