Name: rs6885132
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.

rs6885132

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:14767983 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.154906 (41002/264690, TOPMED)
G=0.43998 (12433/28258, 14KJPN)
G=0.44690 (7490/16760, 8.3KJPN) (+ 15 more)
G=0.05469 (886/16200, ALFA)
G=0.2203 (1411/6404, 1000G_30x)
G=0.2238 (1121/5008, 1000G)
G=0.0980 (439/4480, Estonian)
G=0.1111 (428/3854, ALSPAC)
G=0.1003 (372/3708, TWINSUK)
G=0.4614 (1352/2930, KOREAN)
G=0.4809 (881/1832, Korea1K)
G=0.102 (102/998, GoNL)
G=0.115 (69/600, NorthernSweden)
C=0.400 (88/220, SGDP_PRJ)
G=0.083 (18/216, Qatari)
G=0.288 (61/212, Vietnamese)
G=0.07 (3/40, GENOME_DK)
C=0.46 (13/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ANKH : 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	16200	C=0.94531	G=0.05469, T=0.00000
European	Sub	12976	C=0.94313	G=0.05687, T=0.00000
African	Sub	2092	C=0.9407	G=0.0593, T=0.0000
African Others	Sub	74	C=0.82	G=0.18, T=0.00
African American	Sub	2018	C=0.9450	G=0.0550, T=0.0000
Asian	Sub	48	C=0.96	G=0.04, T=0.00
East Asian	Sub	36	C=0.97	G=0.03, T=0.00
Other Asian	Sub	12	C=0.92	G=0.08, T=0.00
Latin American 1	Sub	102	C=1.000	G=0.000, T=0.000
Latin American 2	Sub	396	C=1.000	G=0.000, T=0.000
South Asian	Sub	62	C=0.97	G=0.03, T=0.00
Other	Sub	524	C=0.962	G=0.038, 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
TopMed	Global	Study-wide	264690	C=0.845094	G=0.154906
14KJPN	JAPANESE	Study-wide	28258	C=0.56002	G=0.43998
8.3KJPN	JAPANESE	Study-wide	16760	C=0.55310	G=0.44690
Allele Frequency Aggregator	Total	Global	16200	C=0.94531	G=0.05469, T=0.00000
Allele Frequency Aggregator	European	Sub	12976	C=0.94313	G=0.05687, T=0.00000
Allele Frequency Aggregator	African	Sub	2092	C=0.9407	G=0.0593, T=0.0000
Allele Frequency Aggregator	Other	Sub	524	C=0.962	G=0.038, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	396	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	C=1.000	G=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	62	C=0.97	G=0.03, T=0.00
Allele Frequency Aggregator	Asian	Sub	48	C=0.96	G=0.04, T=0.00
1000Genomes_30x	Global	Study-wide	6404	C=0.7797	G=0.2203
1000Genomes_30x	African	Sub	1786	C=0.7777	G=0.2223
1000Genomes_30x	Europe	Sub	1266	C=0.9194	G=0.0806
1000Genomes_30x	South Asian	Sub	1202	C=0.7804	G=0.2196
1000Genomes_30x	East Asian	Sub	1170	C=0.6128	G=0.3872
1000Genomes_30x	American	Sub	980	C=0.801	G=0.199
1000Genomes	Global	Study-wide	5008	C=0.7762	G=0.2238
1000Genomes	African	Sub	1322	C=0.7837	G=0.2163
1000Genomes	East Asian	Sub	1008	C=0.6081	G=0.3919
1000Genomes	Europe	Sub	1006	C=0.9135	G=0.0865
1000Genomes	South Asian	Sub	978	C=0.779	G=0.221
1000Genomes	American	Sub	694	C=0.803	G=0.197
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9020	G=0.0980
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8889	G=0.1111
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8997	G=0.1003
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.5386	A=0.0000, G=0.4614
Korean Genome Project	KOREAN	Study-wide	1832	C=0.5191	G=0.4809
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.898	G=0.102
Northern Sweden	ACPOP	Study-wide	600	C=0.885	G=0.115
SGDP_PRJ	Global	Study-wide	220	C=0.400	G=0.600
Qatari	Global	Study-wide	216	C=0.917	G=0.083
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.712	G=0.288
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	G=0.07
Siberian	Global	Study-wide	28	C=0.46	G=0.54

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 5	NC_000005.10:g.14767983C>A
GRCh38.p14 chr 5	NC_000005.10:g.14767983C>G
GRCh38.p14 chr 5	NC_000005.10:g.14767983C>T
GRCh37.p13 chr 5	NC_000005.9:g.14768092C>A
GRCh37.p13 chr 5	NC_000005.9:g.14768092C>G
GRCh37.p13 chr 5	NC_000005.9:g.14768092C>T
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.108803G>T
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.108803G>C
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.108803G>A

Gene: ANKH, ANKH inorganic pyrophosphate transport regulator (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ANKH transcript	NM_054027.6:c.313+992G>T	N/A	Intron Variant
ANKH transcript variant X2	XM_011514067.2:c.313+992G… XM_011514067.2:c.313+992G>T	N/A	Intron Variant
ANKH transcript variant X1	XM_017009644.3:c.229+992G… XM_017009644.3:c.229+992G>T	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	C=	A	G	T
GRCh38.p14 chr 5	NC_000005.10:g.14767983=	NC_000005.10:g.14767983C>A	NC_000005.10:g.14767983C>G	NC_000005.10:g.14767983C>T
GRCh37.p13 chr 5	NC_000005.9:g.14768092=	NC_000005.9:g.14768092C>A	NC_000005.9:g.14768092C>G	NC_000005.9:g.14768092C>T
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.108803=	NG_008273.2:g.108803G>T	NG_008273.2:g.108803G>C	NG_008273.2:g.108803G>A
ANKH transcript	NM_054027.4:c.313+992=	NM_054027.4:c.313+992G>T	NM_054027.4:c.313+992G>C	NM_054027.4:c.313+992G>A
ANKH transcript	NM_054027.6:c.313+992=	NM_054027.6:c.313+992G>T	NM_054027.6:c.313+992G>C	NM_054027.6:c.313+992G>A
ANKH transcript variant X1	XM_005248324.1:c.313+992=	XM_005248324.1:c.313+992G>T	XM_005248324.1:c.313+992G>C	XM_005248324.1:c.313+992G>A
ANKH transcript variant X2	XM_011514067.2:c.313+992=	XM_011514067.2:c.313+992G>T	XM_011514067.2:c.313+992G>C	XM_011514067.2:c.313+992G>A
ANKH transcript variant X1	XM_017009644.3:c.229+992=	XM_017009644.3:c.229+992G>T	XM_017009644.3:c.229+992G>C	XM_017009644.3:c.229+992G>A

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#.

60 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10241283	Jul 11, 2003 (116)
2	SSAHASNP	ss22315318	Apr 05, 2004 (121)
3	ABI	ss44668990	Mar 14, 2006 (126)
4	HGSV	ss81479763	Dec 14, 2007 (130)
5	HGSV	ss84087633	Dec 14, 2007 (130)
6	HUMANGENOME_JCVI	ss98699402	Feb 04, 2009 (130)
7	ENSEMBL	ss144241641	Dec 01, 2009 (131)
8	BUSHMAN	ss199916467	Jul 04, 2010 (132)
9	BCM-HGSC-SUB	ss207087218	Jul 04, 2010 (132)
10	1000GENOMES	ss221533434	Jul 14, 2010 (132)
11	1000GENOMES	ss232839928	Jul 14, 2010 (132)
12	1000GENOMES	ss240035176	Jul 15, 2010 (132)
13	GMI	ss278179902	May 04, 2012 (137)
14	PJP	ss293485780	May 09, 2011 (134)
15	TISHKOFF	ss558225339	Apr 25, 2013 (138)
16	SSMP	ss652069237	Apr 25, 2013 (138)
17	EVA-GONL	ss981279540	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1072415706	Aug 21, 2014 (142)
19	1000GENOMES	ss1314023674	Aug 21, 2014 (142)
20	DDI	ss1430256500	Apr 01, 2015 (144)
21	EVA_GENOME_DK	ss1581024995	Apr 01, 2015 (144)
22	EVA_DECODE	ss1590797726	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1612342398	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1655336431	Apr 01, 2015 (144)
25	HAMMER_LAB	ss1803110216	Sep 08, 2015 (146)
26	WEILL_CORNELL_DGM	ss1924541059	Feb 12, 2016 (147)
27	GENOMED	ss1970021361	Jul 19, 2016 (147)
28	JJLAB	ss2022868865	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2151017448	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2271627200	Dec 20, 2016 (150)
31	SYSTEMSBIOZJU	ss2625933118	Nov 08, 2017 (151)
32	GRF	ss2706545253	Nov 08, 2017 (151)
33	GNOMAD	ss2821480455	Nov 08, 2017 (151)
34	SWEGEN	ss2996483642	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3025219079	Nov 08, 2017 (151)
36	CSHL	ss3346257013	Nov 08, 2017 (151)
37	URBANLAB	ss3647993331	Oct 12, 2018 (152)
38	EGCUT_WGS	ss3664379250	Jul 13, 2019 (153)
39	EVA_DECODE	ss3714163179	Jul 13, 2019 (153)
40	ACPOP	ss3732115365	Jul 13, 2019 (153)
41	EVA	ss3763105050	Jul 13, 2019 (153)
42	KHV_HUMAN_GENOMES	ss3806271736	Jul 13, 2019 (153)
43	EVA	ss3829110271	Apr 26, 2020 (154)
44	SGDP_PRJ	ss3861278080	Apr 26, 2020 (154)
45	KRGDB	ss3907724348	Apr 26, 2020 (154)
46	KOGIC	ss3956147942	Apr 26, 2020 (154)
47	TOPMED	ss4650612617	Apr 27, 2021 (155)
48	TOMMO_GENOMICS	ss5170510184	Apr 27, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5262979760	Oct 13, 2022 (156)
50	EVA	ss5355847506	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5461318182	Oct 13, 2022 (156)
52	EVA	ss5507923869	Oct 13, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5546083084	Oct 13, 2022 (156)
54	SANFORD_IMAGENETICS	ss5637245135	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5706219904	Oct 13, 2022 (156)
56	YY_MCH	ss5806047113	Oct 13, 2022 (156)
57	EVA	ss5834561157	Oct 13, 2022 (156)
58	EVA	ss5854697752	Oct 13, 2022 (156)
59	EVA	ss5893115674	Oct 13, 2022 (156)
60	EVA	ss5965661934	Oct 13, 2022 (156)
61	1000Genomes	NC_000005.9 - 14768092	Oct 12, 2018 (152)
62	1000Genomes_30x	NC_000005.10 - 14767983	Oct 13, 2022 (156)
63	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 14768092	Oct 12, 2018 (152)
64	Genetic variation in the Estonian population	NC_000005.9 - 14768092	Oct 12, 2018 (152)
65	The Danish reference pan genome	NC_000005.9 - 14768092	Apr 26, 2020 (154)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 180761852 (NC_000005.10:14767982:C:G 19968/140126) Row 180761853 (NC_000005.10:14767982:C:T 1/140160)	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 180761852 (NC_000005.10:14767982:C:G 19968/140126) Row 180761853 (NC_000005.10:14767982:C:T 1/140160)	-	Apr 27, 2021 (155)
68	Genome of the Netherlands Release 5	NC_000005.9 - 14768092	Apr 26, 2020 (154)
69	KOREAN population from KRGDB	NC_000005.9 - 14768092	Apr 26, 2020 (154)
70	Korean Genome Project	NC_000005.10 - 14767983	Apr 26, 2020 (154)
71	Northern Sweden	NC_000005.9 - 14768092	Jul 13, 2019 (153)
72	Qatari	NC_000005.9 - 14768092	Apr 26, 2020 (154)
73	SGDP_PRJ	NC_000005.9 - 14768092	Apr 26, 2020 (154)
74	Siberian	NC_000005.9 - 14768092	Apr 26, 2020 (154)
75	8.3KJPN	NC_000005.9 - 14768092	Apr 27, 2021 (155)
76	14KJPN	NC_000005.10 - 14767983	Oct 13, 2022 (156)
77	TopMed	NC_000005.10 - 14767983	Apr 27, 2021 (155)
78	UK 10K study - Twins	NC_000005.9 - 14768092	Oct 12, 2018 (152)
79	A Vietnamese Genetic Variation Database	NC_000005.9 - 14768092	Jul 13, 2019 (153)
80	ALFA	NC_000005.10 - 14767983	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).

Associated ID	History Updated (Build)
rs57354662	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
14901742, ss3907724348	NC_000005.9:14768091:C:A	NC_000005.10:14767982:C:A	(self)
ss81479763, ss84087633, ss199916467, ss207087218, ss278179902, ss293485780, ss1590797726	NC_000005.8:14821091:C:G	NC_000005.10:14767982:C:G	(self)
25583153, 14239852, 10117498, 7189934, 6320229, 14901742, 5400230, 6582989, 13295060, 3533802, 28479491, 14239852, 3159964, ss221533434, ss232839928, ss240035176, ss558225339, ss652069237, ss981279540, ss1072415706, ss1314023674, ss1430256500, ss1581024995, ss1612342398, ss1655336431, ss1803110216, ss1924541059, ss1970021361, ss2022868865, ss2151017448, ss2625933118, ss2706545253, ss2821480455, ss2996483642, ss3346257013, ss3664379250, ss3732115365, ss3763105050, ss3829110271, ss3861278080, ss3907724348, ss5170510184, ss5355847506, ss5507923869, ss5637245135, ss5834561157, ss5965661934	NC_000005.9:14768091:C:G	NC_000005.10:14767982:C:G	(self)
33609019, 12525943, 40057008, 487990174, 4619117426, ss2271627200, ss3025219079, ss3647993331, ss3714163179, ss3806271736, ss3956147942, ss4650612617, ss5262979760, ss5461318182, ss5546083084, ss5706219904, ss5806047113, ss5854697752, ss5893115674	NC_000005.10:14767982:C:G	NC_000005.10:14767982:C:G	(self)
ss44668990, ss98699402, ss144241641	NT_006576.16:14758091:C:G	NC_000005.10:14767982:C:G	(self)
ss10241283, ss22315318	NT_023089.13:14750829:C:G	NC_000005.10:14767982:C:G	(self)
ss2821480455	NC_000005.9:14768091:C:T	NC_000005.10:14767982:C:T	(self)
4619117426	NC_000005.10:14767982:C:T	NC_000005.10:14767982:C: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 rs6885132

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

rs6885132