Name: rs12071266
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.

rs12071266

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:201985084 (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: C=0.462292 (122364/264690, TOPMED)
C=0.448727 (62435/139138, GnomAD)
C=0.38316 (10825/28252, 14KJPN) (+ 16 more)
C=0.38346 (6426/16758, 8.3KJPN)
T=0.4613 (4349/9428, ALFA)
C=0.4938 (3162/6404, 1000G_30x)
C=0.4870 (2439/5008, 1000G)
C=0.3649 (1631/4470, Estonian)
C=0.4024 (1551/3854, ALSPAC)
C=0.3967 (1471/3708, TWINSUK)
C=0.4048 (1186/2930, KOREAN)
C=0.4164 (762/1830, Korea1K)
C=0.417 (416/998, GoNL)
C=0.405 (243/600, NorthernSweden)
C=0.297 (120/404, SGDP_PRJ)
C=0.486 (105/216, Qatari)
T=0.354 (70/198, Vietnamese)
C=0.23 (13/56, Siberian)
C=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RNPEP : 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	9428	C=0.5387	A=0.0000, G=0.0000, T=0.4613
European	Sub	7922	C=0.4763	A=0.0000, G=0.0000, T=0.5237
African	Sub	948	C=0.930	A=0.000, G=0.000, T=0.070
African Others	Sub	48	C=0.94	A=0.00, G=0.00, T=0.06
African American	Sub	900	C=0.930	A=0.000, G=0.000, T=0.070
Asian	Sub	24	C=0.96	A=0.00, G=0.00, T=0.04
East Asian	Sub	18	C=0.94	A=0.00, G=0.00, T=0.06
Other Asian	Sub	6	C=1.0	A=0.0, G=0.0, T=0.0
Latin American 1	Sub	34	C=1.00	A=0.00, G=0.00, T=0.00
Latin American 2	Sub	158	C=1.000	A=0.000, G=0.000, T=0.000
South Asian	Sub	24	C=0.83	A=0.00, G=0.00, T=0.17
Other	Sub	318	C=0.594	A=0.000, G=0.000, T=0.406

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=0.462292	T=0.537708
gnomAD - Genomes	Global	Study-wide	139138	C=0.448727	T=0.551273
gnomAD - Genomes	European	Sub	75478	C=0.39206	T=0.60794
gnomAD - Genomes	African	Sub	41556	C=0.53821	T=0.46179
gnomAD - Genomes	American	Sub	13566	C=0.48540	T=0.51460
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	C=0.4258	T=0.5742
gnomAD - Genomes	East Asian	Sub	3090	C=0.4806	T=0.5194
gnomAD - Genomes	Other	Sub	2132	C=0.4667	T=0.5333
14KJPN	JAPANESE	Study-wide	28252	C=0.38316	T=0.61684
8.3KJPN	JAPANESE	Study-wide	16758	C=0.38346	T=0.61654
Allele Frequency Aggregator	Total	Global	9428	C=0.5387	A=0.0000, G=0.0000, T=0.4613
Allele Frequency Aggregator	European	Sub	7922	C=0.4763	A=0.0000, G=0.0000, T=0.5237
Allele Frequency Aggregator	African	Sub	948	C=0.930	A=0.000, G=0.000, T=0.070
Allele Frequency Aggregator	Other	Sub	318	C=0.594	A=0.000, G=0.000, T=0.406
Allele Frequency Aggregator	Latin American 2	Sub	158	C=1.000	A=0.000, G=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	34	C=1.00	A=0.00, G=0.00, T=0.00
Allele Frequency Aggregator	South Asian	Sub	24	C=0.83	A=0.00, G=0.00, T=0.17
Allele Frequency Aggregator	Asian	Sub	24	C=0.96	A=0.00, G=0.00, T=0.04
1000Genomes_30x	Global	Study-wide	6404	C=0.4938	T=0.5062
1000Genomes_30x	African	Sub	1786	C=0.5873	T=0.4127
1000Genomes_30x	Europe	Sub	1266	C=0.4005	T=0.5995
1000Genomes_30x	South Asian	Sub	1202	C=0.4085	T=0.5915
1000Genomes_30x	East Asian	Sub	1170	C=0.4863	T=0.5137
1000Genomes_30x	American	Sub	980	C=0.557	T=0.443
1000Genomes	Global	Study-wide	5008	C=0.4870	T=0.5130
1000Genomes	African	Sub	1322	C=0.5885	T=0.4115
1000Genomes	East Asian	Sub	1008	C=0.4851	T=0.5149
1000Genomes	Europe	Sub	1006	C=0.3926	T=0.6074
1000Genomes	South Asian	Sub	978	C=0.404	T=0.596
1000Genomes	American	Sub	694	C=0.550	T=0.450
Genetic variation in the Estonian population	Estonian	Study-wide	4470	C=0.3649	T=0.6351
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.4024	T=0.5976
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3967	T=0.6033
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.4048	A=0.0000, G=0.0000, T=0.5952
Korean Genome Project	KOREAN	Study-wide	1830	C=0.4164	T=0.5836
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.417	T=0.583
Northern Sweden	ACPOP	Study-wide	600	C=0.405	T=0.595
SGDP_PRJ	Global	Study-wide	404	C=0.297	T=0.703
Qatari	Global	Study-wide	216	C=0.486	T=0.514
A Vietnamese Genetic Variation Database	Global	Study-wide	198	C=0.646	T=0.354
Siberian	Global	Study-wide	56	C=0.23	T=0.77
The Danish reference pan genome	Danish	Study-wide	40	C=0.42	T=0.57

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 1	NC_000001.11:g.201985084C>A
GRCh38.p14 chr 1	NC_000001.11:g.201985084C>G
GRCh38.p14 chr 1	NC_000001.11:g.201985084C>T
GRCh37.p13 chr 1	NC_000001.10:g.201954212C>A
GRCh37.p13 chr 1	NC_000001.10:g.201954212C>G
GRCh37.p13 chr 1	NC_000001.10:g.201954212C>T

Gene: RNPEP, arginyl aminopeptidase (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RNPEP transcript variant 2	NM_001319182.2:c.54+1568C… NM_001319182.2:c.54+1568C>A	N/A	Intron Variant
RNPEP transcript variant 3	NM_001319183.2:c.-421+197… NM_001319183.2:c.-421+1971C>A	N/A	Intron Variant
RNPEP transcript variant 4	NM_001319184.2:c.-275+197… NM_001319184.2:c.-275+1971C>A	N/A	Intron Variant
RNPEP transcript variant 1	NM_020216.4:c.447+1971C>A	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 1	NC_000001.11:g.201985084=	NC_000001.11:g.201985084C>A	NC_000001.11:g.201985084C>G	NC_000001.11:g.201985084C>T
GRCh37.p13 chr 1	NC_000001.10:g.201954212=	NC_000001.10:g.201954212C>A	NC_000001.10:g.201954212C>G	NC_000001.10:g.201954212C>T
RNPEP transcript variant 2	NM_001319182.2:c.54+1568=	NM_001319182.2:c.54+1568C>A	NM_001319182.2:c.54+1568C>G	NM_001319182.2:c.54+1568C>T
RNPEP transcript variant 3	NM_001319183.2:c.-421+1971=	NM_001319183.2:c.-421+1971C>A	NM_001319183.2:c.-421+1971C>G	NM_001319183.2:c.-421+1971C>T
RNPEP transcript variant 4	NM_001319184.2:c.-275+1971=	NM_001319184.2:c.-275+1971C>A	NM_001319184.2:c.-275+1971C>G	NM_001319184.2:c.-275+1971C>T
RNPEP transcript variant 1	NM_020216.3:c.447+1971=	NM_020216.3:c.447+1971C>A	NM_020216.3:c.447+1971C>G	NM_020216.3:c.447+1971C>T
RNPEP transcript variant 1	NM_020216.4:c.447+1971=	NM_020216.4:c.447+1971C>A	NM_020216.4:c.447+1971C>G	NM_020216.4:c.447+1971C>T
RNPEP transcript variant X1	XM_005245418.1:c.54+1568=	XM_005245418.1:c.54+1568C>A	XM_005245418.1:c.54+1568C>G	XM_005245418.1:c.54+1568C>T
RNPEP transcript variant X2	XM_005245419.1:c.-166+1200=	XM_005245419.1:c.-166+1200C>A	XM_005245419.1:c.-166+1200C>G	XM_005245419.1:c.-166+1200C>T
RNPEP transcript variant X3	XM_005245420.1:c.-275+1971=	XM_005245420.1:c.-275+1971C>A	XM_005245420.1:c.-275+1971C>G	XM_005245420.1:c.-275+1971C>T
RNPEP transcript variant X1	XM_005245421.1:c.-275+1568=	XM_005245421.1:c.-275+1568C>A	XM_005245421.1:c.-275+1568C>G	XM_005245421.1:c.-275+1568C>T

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#.

62 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18162313	Feb 28, 2004 (120)
2	HGSV	ss85688823	Dec 15, 2007 (130)
3	BCMHGSC_JDW	ss87936599	Mar 23, 2008 (129)
4	ENSEMBL	ss138137144	Dec 01, 2009 (131)
5	COMPLETE_GENOMICS	ss164919492	Jul 04, 2010 (132)
6	COMPLETE_GENOMICS	ss167434485	Jul 04, 2010 (132)
7	BUSHMAN	ss199486452	Jul 04, 2010 (132)
8	1000GENOMES	ss230861546	Jul 14, 2010 (132)
9	BL	ss253752600	May 09, 2011 (134)
10	GMI	ss276177601	May 04, 2012 (137)
11	TISHKOFF	ss555050490	Apr 25, 2013 (138)
12	SSMP	ss648630130	Apr 25, 2013 (138)
13	EVA-GONL	ss976035553	Aug 21, 2014 (142)
14	JMKIDD_LAB	ss1068522809	Aug 21, 2014 (142)
15	1000GENOMES	ss1294242268	Aug 21, 2014 (142)
16	DDI	ss1426080954	Apr 01, 2015 (144)
17	EVA_GENOME_DK	ss1574609738	Apr 01, 2015 (144)
18	EVA_DECODE	ss1585430039	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1601919695	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1644913728	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1795582575	Sep 08, 2015 (146)
22	WEILL_CORNELL_DGM	ss1919263635	Feb 12, 2016 (147)
23	GENOMED	ss1966947818	Jul 19, 2016 (147)
24	JJLAB	ss2020151860	Sep 14, 2016 (149)
25	USC_VALOUEV	ss2148179421	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2169265300	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2624583571	Nov 08, 2017 (151)
28	GRF	ss2698169173	Nov 08, 2017 (151)
29	GNOMAD	ss2765066111	Nov 08, 2017 (151)
30	SWEGEN	ss2988281527	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3023835848	Nov 08, 2017 (151)
32	CSHL	ss3343864275	Nov 08, 2017 (151)
33	EGCUT_WGS	ss3656242906	Jul 12, 2019 (153)
34	EVA_DECODE	ss3688426156	Jul 12, 2019 (153)
35	ACPOP	ss3727772176	Jul 12, 2019 (153)
36	EVA	ss3747207932	Jul 12, 2019 (153)
37	PACBIO	ss3783659987	Jul 12, 2019 (153)
38	PACBIO	ss3789276727	Jul 12, 2019 (153)
39	PACBIO	ss3794148929	Jul 12, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3800216232	Jul 12, 2019 (153)
41	EVA	ss3826591961	Apr 25, 2020 (154)
42	EVA	ss3836695608	Apr 25, 2020 (154)
43	EVA	ss3842106734	Apr 25, 2020 (154)
44	SGDP_PRJ	ss3850687116	Apr 25, 2020 (154)
45	KRGDB	ss3895974880	Apr 25, 2020 (154)
46	KOGIC	ss3946282365	Apr 25, 2020 (154)
47	TOPMED	ss4480003217	Apr 25, 2021 (155)
48	TOMMO_GENOMICS	ss5147967260	Apr 25, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5245439335	Oct 12, 2022 (156)
50	EVA	ss5324136820	Oct 12, 2022 (156)
51	HUGCELL_USP	ss5445912793	Oct 12, 2022 (156)
52	EVA	ss5506154865	Oct 12, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5519359731	Oct 12, 2022 (156)
54	SANFORD_IMAGENETICS	ss5627247027	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5675590973	Oct 12, 2022 (156)
56	YY_MCH	ss5801548082	Oct 12, 2022 (156)
57	EVA	ss5833119313	Oct 12, 2022 (156)
58	EVA	ss5849241042	Oct 12, 2022 (156)
59	EVA	ss5911562979	Oct 12, 2022 (156)
60	EVA	ss5939075389	Oct 12, 2022 (156)
61	EVA	ss5980007790	Oct 12, 2022 (156)
62	EVA	ss5981199907	Oct 12, 2022 (156)
63	1000Genomes	NC_000001.10 - 201954212	Oct 11, 2018 (152)
64	1000Genomes_30x	NC_000001.11 - 201985084	Oct 12, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 201954212	Oct 11, 2018 (152)
66	Genetic variation in the Estonian population	NC_000001.10 - 201954212	Oct 11, 2018 (152)
67	The Danish reference pan genome	NC_000001.10 - 201954212	Apr 25, 2020 (154)
68	gnomAD - Genomes	NC_000001.11 - 201985084	Apr 25, 2021 (155)
69	Genome of the Netherlands Release 5	NC_000001.10 - 201954212	Apr 25, 2020 (154)
70	KOREAN population from KRGDB	NC_000001.10 - 201954212	Apr 25, 2020 (154)
71	Korean Genome Project	NC_000001.11 - 201985084	Apr 25, 2020 (154)
72	Northern Sweden	NC_000001.10 - 201954212	Jul 12, 2019 (153)
73	Qatari	NC_000001.10 - 201954212	Apr 25, 2020 (154)
74	SGDP_PRJ	NC_000001.10 - 201954212	Apr 25, 2020 (154)
75	Siberian	NC_000001.10 - 201954212	Apr 25, 2020 (154)
76	8.3KJPN	NC_000001.10 - 201954212	Apr 25, 2021 (155)
77	14KJPN	NC_000001.11 - 201985084	Oct 12, 2022 (156)
78	TopMed	NC_000001.11 - 201985084	Apr 25, 2021 (155)
79	UK 10K study - Twins	NC_000001.10 - 201954212	Oct 11, 2018 (152)
80	A Vietnamese Genetic Variation Database	NC_000001.10 - 201954212	Jul 12, 2019 (153)
81	ALFA	NC_000001.11 - 201985084	Apr 25, 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)
rs60671883	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3152274, ss3895974880	NC_000001.10:201954211:C:A	NC_000001.11:201985083:C:A	(self)
10838520523	NC_000001.11:201985083:C:A	NC_000001.11:201985083:C:A	(self)
3152274, ss3895974880	NC_000001.10:201954211:C:G	NC_000001.11:201985083:C:G	(self)
10838520523	NC_000001.11:201985083:C:G	NC_000001.11:201985083:C:G	(self)
ss85688823	NC_000001.8:198685868:C:T	NC_000001.11:201985083:C:T	(self)
ss87936599, ss164919492, ss167434485, ss199486452, ss253752600, ss276177601, ss1585430039	NC_000001.9:200220834:C:T	NC_000001.11:201985083:C:T	(self)
5082401, 2796670, 1981154, 1843203, 1221671, 3152274, 1057041, 1305565, 2704096, 695775, 5936567, 2796670, 604358, ss230861546, ss555050490, ss648630130, ss976035553, ss1068522809, ss1294242268, ss1426080954, ss1574609738, ss1601919695, ss1644913728, ss1795582575, ss1919263635, ss1966947818, ss2020151860, ss2148179421, ss2624583571, ss2698169173, ss2765066111, ss2988281527, ss3343864275, ss3656242906, ss3727772176, ss3747207932, ss3783659987, ss3789276727, ss3794148929, ss3826591961, ss3836695608, ss3850687116, ss3895974880, ss5147967260, ss5324136820, ss5506154865, ss5627247027, ss5833119313, ss5939075389, ss5980007790, ss5981199907	NC_000001.10:201954211:C:T	NC_000001.11:201985083:C:T	(self)
6885666, 36636283, 2660366, 9428077, 43609552, 10838520523, ss2169265300, ss3023835848, ss3688426156, ss3800216232, ss3842106734, ss3946282365, ss4480003217, ss5245439335, ss5445912793, ss5519359731, ss5675590973, ss5801548082, ss5849241042, ss5911562979	NC_000001.11:201985083:C:T	NC_000001.11:201985083:C:T	(self)
ss138137144	NT_004487.19:53442853:C:T	NC_000001.11:201985083:C:T	(self)
ss18162313	NT_004671.15:13309195:C:T	NC_000001.11:201985083: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 rs12071266

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

rs12071266