Name: rs706295
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.

rs706295

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:14767393 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.441226 (116788/264690, TOPMED)
G=0.443276 (62064/140012, GnomAD)
G=0.47319 (14864/31412, ALFA) (+ 16 more)
G=0.39911 (11278/28258, 14KJPN)
G=0.39123 (6557/16760, 8.3KJPN)
G=0.4157 (2662/6404, 1000G_30x)
G=0.4137 (2072/5008, 1000G)
A=0.4824 (2161/4480, Estonian)
G=0.4946 (1906/3854, ALSPAC)
G=0.4889 (1813/3708, TWINSUK)
G=0.3413 (1000/2930, KOREAN)
G=0.3166 (580/1832, Korea1K)
G=0.467 (466/998, GoNL)
G=0.462 (277/600, NorthernSweden)
A=0.289 (110/380, SGDP_PRJ)
G=0.412 (89/216, Qatari)
G=0.388 (83/214, Vietnamese)
A=0.45 (18/40, GENOME_DK)
A=0.41 (13/32, 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	31412	A=0.52681	G=0.47319
European	Sub	24708	A=0.50579	G=0.49421
African	Sub	3592	A=0.6629	G=0.3371
African Others	Sub	124	A=0.702	G=0.298
African American	Sub	3468	A=0.6615	G=0.3385
Asian	Sub	128	A=0.633	G=0.367
East Asian	Sub	100	A=0.66	G=0.34
Other Asian	Sub	28	A=0.54	G=0.46
Latin American 1	Sub	168	A=0.595	G=0.405
Latin American 2	Sub	700	A=0.513	G=0.487
South Asian	Sub	114	A=0.509	G=0.491
Other	Sub	2002	A=0.5355	G=0.4645

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	A=0.558774	G=0.441226
gnomAD - Genomes	Global	Study-wide	140012	A=0.556724	G=0.443276
gnomAD - Genomes	European	Sub	75844	A=0.51334	G=0.48666
gnomAD - Genomes	African	Sub	41952	A=0.64683	G=0.35317
gnomAD - Genomes	American	Sub	13620	A=0.50661	G=0.49339
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.5090	G=0.4910
gnomAD - Genomes	East Asian	Sub	3128	A=0.6829	G=0.3171
gnomAD - Genomes	Other	Sub	2146	A=0.5363	G=0.4637
Allele Frequency Aggregator	Total	Global	31412	A=0.52681	G=0.47319
Allele Frequency Aggregator	European	Sub	24708	A=0.50579	G=0.49421
Allele Frequency Aggregator	African	Sub	3592	A=0.6629	G=0.3371
Allele Frequency Aggregator	Other	Sub	2002	A=0.5355	G=0.4645
Allele Frequency Aggregator	Latin American 2	Sub	700	A=0.513	G=0.487
Allele Frequency Aggregator	Latin American 1	Sub	168	A=0.595	G=0.405
Allele Frequency Aggregator	Asian	Sub	128	A=0.633	G=0.367
Allele Frequency Aggregator	South Asian	Sub	114	A=0.509	G=0.491
14KJPN	JAPANESE	Study-wide	28258	A=0.60089	G=0.39911
8.3KJPN	JAPANESE	Study-wide	16760	A=0.60877	G=0.39123
1000Genomes_30x	Global	Study-wide	6404	A=0.5843	G=0.4157
1000Genomes_30x	African	Sub	1786	A=0.6719	G=0.3281
1000Genomes_30x	Europe	Sub	1266	A=0.5134	G=0.4866
1000Genomes_30x	South Asian	Sub	1202	A=0.5067	G=0.4933
1000Genomes_30x	East Asian	Sub	1170	A=0.6513	G=0.3487
1000Genomes_30x	American	Sub	980	A=0.532	G=0.468
1000Genomes	Global	Study-wide	5008	A=0.5863	G=0.4137
1000Genomes	African	Sub	1322	A=0.6740	G=0.3260
1000Genomes	East Asian	Sub	1008	A=0.6538	G=0.3462
1000Genomes	Europe	Sub	1006	A=0.5199	G=0.4801
1000Genomes	South Asian	Sub	978	A=0.507	G=0.493
1000Genomes	American	Sub	694	A=0.529	G=0.471
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4824	G=0.5176
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5054	G=0.4946
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5111	G=0.4889
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6587	G=0.3413
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6834	G=0.3166
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.533	G=0.467
Northern Sweden	ACPOP	Study-wide	600	A=0.538	G=0.462
SGDP_PRJ	Global	Study-wide	380	A=0.289	G=0.711
Qatari	Global	Study-wide	216	A=0.588	G=0.412
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.612	G=0.388
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	G=0.55
Siberian	Global	Study-wide	32	A=0.41	G=0.59

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.14767393A>G
GRCh37.p13 chr 5	NC_000005.9:g.14767502A>G
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.109393T>C

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

Molecule type	Change	Amino acid[Codon]	SO Term
ANKH transcript	NM_054027.6:c.313+1582T>C	N/A	Intron Variant
ANKH transcript variant X2	XM_011514067.2:c.313+1582… XM_011514067.2:c.313+1582T>C	N/A	Intron Variant
ANKH transcript variant X1	XM_017009644.3:c.229+1582… XM_017009644.3:c.229+1582T>C	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=	G
GRCh38.p14 chr 5	NC_000005.10:g.14767393=	NC_000005.10:g.14767393A>G
GRCh37.p13 chr 5	NC_000005.9:g.14767502=	NC_000005.9:g.14767502A>G
ANKH RefSeqGene (LRG_1362)	NG_008273.2:g.109393=	NG_008273.2:g.109393T>C
ANKH transcript	NM_054027.4:c.313+1582=	NM_054027.4:c.313+1582T>C
ANKH transcript	NM_054027.6:c.313+1582=	NM_054027.6:c.313+1582T>C
ANKH transcript variant X1	XM_005248324.1:c.313+1582=	XM_005248324.1:c.313+1582T>C
ANKH transcript variant X2	XM_011514067.2:c.313+1582=	XM_011514067.2:c.313+1582T>C
ANKH transcript variant X1	XM_017009644.3:c.229+1582=	XM_017009644.3:c.229+1582T>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#.

94 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1280162	Oct 04, 2000 (86)
2	KWOK	ss1280164	Oct 04, 2000 (86)
3	KWOK	ss1856883	Oct 18, 2000 (87)
4	KWOK	ss1856892	Oct 18, 2000 (87)
5	SC_JCM	ss2522027	Nov 08, 2000 (89)
6	TSC-CSHL	ss3051064	Jun 15, 2001 (96)
7	BCM_SSAHASNP	ss10238971	Jul 11, 2003 (116)
8	SSAHASNP	ss22310947	Apr 05, 2004 (121)
9	PERLEGEN	ss24427113	Sep 20, 2004 (123)
10	ABI	ss44594555	Mar 15, 2006 (126)
11	HGSV	ss83755271	Dec 15, 2007 (130)
12	HGSV	ss85588899	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss93002057	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss98699399	Feb 05, 2009 (130)
15	BGI	ss105908276	Feb 05, 2009 (130)
16	1000GENOMES	ss108828555	Jan 23, 2009 (130)
17	1000GENOMES	ss111466130	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss116488567	Feb 14, 2009 (130)
19	GMI	ss155076710	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss162035869	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss164302933	Jul 04, 2010 (132)
22	BUSHMAN	ss199916443	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss206863853	Jul 04, 2010 (132)
24	1000GENOMES	ss221533427	Jul 14, 2010 (132)
25	1000GENOMES	ss232839922	Jul 14, 2010 (132)
26	1000GENOMES	ss240035171	Jul 15, 2010 (132)
27	BL	ss253249348	May 09, 2011 (134)
28	GMI	ss278179897	May 04, 2012 (137)
29	GMI	ss285124643	Apr 25, 2013 (138)
30	PJP	ss293485775	May 09, 2011 (134)
31	ILLUMINA	ss484283605	May 04, 2012 (137)
32	ILLUMINA	ss484957737	May 04, 2012 (137)
33	ILLUMINA	ss536467898	Sep 08, 2015 (146)
34	TISHKOFF	ss558225334	Apr 25, 2013 (138)
35	SSMP	ss652069230	Apr 25, 2013 (138)
36	ILLUMINA	ss780595693	Aug 21, 2014 (142)
37	ILLUMINA	ss782587869	Aug 21, 2014 (142)
38	ILLUMINA	ss836088700	Aug 21, 2014 (142)
39	EVA-GONL	ss981279532	Aug 21, 2014 (142)
40	JMKIDD_LAB	ss1072415698	Aug 21, 2014 (142)
41	1000GENOMES	ss1314023658	Aug 21, 2014 (142)
42	DDI	ss1430256495	Apr 01, 2015 (144)
43	EVA_GENOME_DK	ss1581024989	Apr 01, 2015 (144)
44	EVA_DECODE	ss1590797717	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1612342384	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1655336417	Apr 01, 2015 (144)
47	HAMMER_LAB	ss1803110202	Sep 08, 2015 (146)
48	WEILL_CORNELL_DGM	ss1924541051	Feb 12, 2016 (147)
49	GENOMED	ss1970021356	Jul 19, 2016 (147)
50	JJLAB	ss2022868859	Sep 14, 2016 (149)
51	USC_VALOUEV	ss2151017441	Dec 20, 2016 (150)
52	HUMAN_LONGEVITY	ss2271627170	Dec 20, 2016 (150)
53	SYSTEMSBIOZJU	ss2625933114	Nov 08, 2017 (151)
54	ILLUMINA	ss2634249795	Nov 08, 2017 (151)
55	GRF	ss2706545247	Nov 08, 2017 (151)
56	GNOMAD	ss2821480406	Nov 08, 2017 (151)
57	SWEGEN	ss2996483632	Nov 08, 2017 (151)
58	ILLUMINA	ss3022468900	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3025219073	Nov 08, 2017 (151)
60	CSHL	ss3346257006	Nov 08, 2017 (151)
61	ILLUMINA	ss3629184584	Oct 12, 2018 (152)
62	ILLUMINA	ss3632178408	Oct 12, 2018 (152)
63	ILLUMINA	ss3642400684	Oct 12, 2018 (152)
64	URBANLAB	ss3647993327	Oct 12, 2018 (152)
65	ILLUMINA	ss3652961905	Oct 12, 2018 (152)
66	EGCUT_WGS	ss3664379238	Jul 13, 2019 (153)
67	EVA_DECODE	ss3714163171	Jul 13, 2019 (153)
68	ILLUMINA	ss3726215694	Jul 13, 2019 (153)
69	ACPOP	ss3732115357	Jul 13, 2019 (153)
70	EVA	ss3763105041	Jul 13, 2019 (153)
71	PACBIO	ss3785033405	Jul 13, 2019 (153)
72	PACBIO	ss3790450595	Jul 13, 2019 (153)
73	PACBIO	ss3795327204	Jul 13, 2019 (153)
74	KHV_HUMAN_GENOMES	ss3806271727	Jul 13, 2019 (153)
75	EVA	ss3829110265	Apr 26, 2020 (154)
76	EVA	ss3838019017	Apr 26, 2020 (154)
77	EVA	ss3843458965	Apr 26, 2020 (154)
78	SGDP_PRJ	ss3861278072	Apr 26, 2020 (154)
79	KRGDB	ss3907724339	Apr 26, 2020 (154)
80	KOGIC	ss3956147928	Apr 26, 2020 (154)
81	TOPMED	ss4650612497	Apr 26, 2021 (155)
82	TOMMO_GENOMICS	ss5170510169	Apr 26, 2021 (155)
83	1000G_HIGH_COVERAGE	ss5262979742	Oct 13, 2022 (156)
84	EVA	ss5315034674	Oct 13, 2022 (156)
85	EVA	ss5355847488	Oct 13, 2022 (156)
86	HUGCELL_USP	ss5461318168	Oct 13, 2022 (156)
87	1000G_HIGH_COVERAGE	ss5546083064	Oct 13, 2022 (156)
88	SANFORD_IMAGENETICS	ss5637245125	Oct 13, 2022 (156)
89	TOMMO_GENOMICS	ss5706219880	Oct 13, 2022 (156)
90	YY_MCH	ss5806047105	Oct 13, 2022 (156)
91	EVA	ss5834561147	Oct 13, 2022 (156)
92	EVA	ss5854697748	Oct 13, 2022 (156)
93	EVA	ss5893115659	Oct 13, 2022 (156)
94	EVA	ss5965661922	Oct 13, 2022 (156)
95	1000Genomes	NC_000005.9 - 14767502	Oct 12, 2018 (152)
96	1000Genomes_30x	NC_000005.10 - 14767393	Oct 13, 2022 (156)
97	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 14767502	Oct 12, 2018 (152)
98	Genetic variation in the Estonian population	NC_000005.9 - 14767502	Oct 12, 2018 (152)
99	The Danish reference pan genome	NC_000005.9 - 14767502	Apr 26, 2020 (154)
100	gnomAD - Genomes	NC_000005.10 - 14767393	Apr 26, 2021 (155)
101	Genome of the Netherlands Release 5	NC_000005.9 - 14767502	Apr 26, 2020 (154)
102	KOREAN population from KRGDB	NC_000005.9 - 14767502	Apr 26, 2020 (154)
103	Korean Genome Project	NC_000005.10 - 14767393	Apr 26, 2020 (154)
104	Northern Sweden	NC_000005.9 - 14767502	Jul 13, 2019 (153)
105	Qatari	NC_000005.9 - 14767502	Apr 26, 2020 (154)
106	SGDP_PRJ	NC_000005.9 - 14767502	Apr 26, 2020 (154)
107	Siberian	NC_000005.9 - 14767502	Apr 26, 2020 (154)
108	8.3KJPN	NC_000005.9 - 14767502	Apr 26, 2021 (155)
109	14KJPN	NC_000005.10 - 14767393	Oct 13, 2022 (156)
110	TopMed	NC_000005.10 - 14767393	Apr 26, 2021 (155)
111	UK 10K study - Twins	NC_000005.9 - 14767502	Oct 12, 2018 (152)
112	A Vietnamese Genetic Variation Database	NC_000005.9 - 14767502	Jul 13, 2019 (153)
113	ALFA	NC_000005.10 - 14767393	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)
rs17317207	Oct 07, 2004 (123)
rs58818004	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83755271, ss85588899, ss93002057, ss108828555, ss111466130, ss116488567, ss162035869, ss164302933, ss199916443, ss206863853, ss253249348, ss278179897, ss285124643, ss293485775, ss484957737, ss1590797717	NC_000005.8:14820501:A:G	NC_000005.10:14767392:A:G	(self)
25583138, 14239838, 10117486, 7189928, 6320221, 14901733, 5400222, 6582981, 13295052, 3533795, 28479476, 14239838, 3159960, ss221533427, ss232839922, ss240035171, ss484283605, ss536467898, ss558225334, ss652069230, ss780595693, ss782587869, ss836088700, ss981279532, ss1072415698, ss1314023658, ss1430256495, ss1581024989, ss1612342384, ss1655336417, ss1803110202, ss1924541051, ss1970021356, ss2022868859, ss2151017441, ss2625933114, ss2634249795, ss2706545247, ss2821480406, ss2996483632, ss3022468900, ss3346257006, ss3629184584, ss3632178408, ss3642400684, ss3652961905, ss3664379238, ss3732115357, ss3763105041, ss3785033405, ss3790450595, ss3795327204, ss3829110265, ss3838019017, ss3861278072, ss3907724339, ss5170510169, ss5315034674, ss5355847488, ss5637245125, ss5834561147, ss5965661922	NC_000005.9:14767501:A:G	NC_000005.10:14767392:A:G	(self)
33608999, 180761751, 12525929, 40056984, 487990054, 6056978165, ss2271627170, ss3025219073, ss3647993327, ss3714163171, ss3726215694, ss3806271727, ss3843458965, ss3956147928, ss4650612497, ss5262979742, ss5461318168, ss5546083064, ss5706219880, ss5806047105, ss5854697748, ss5893115659	NC_000005.10:14767392:A:G	NC_000005.10:14767392:A:G	(self)
ss1280162, ss1280164, ss1856883, ss1856892, ss2522027, ss3051064, ss24427113, ss44594555, ss98699399, ss105908276, ss155076710	NT_006576.16:14757501:A:G	NC_000005.10:14767392:A:G	(self)
ss10238971, ss22310947	NT_023089.13:14750239:A:G	NC_000005.10:14767392: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 rs706295

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

rs706295