Name: rs12727422
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.

rs12727422

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:66769637 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.167183 (50160/300030, ALFA)
A=0.199396 (52778/264690, TOPMED)
A=0.195122 (27278/139800, GnomAD) (+ 22 more)
A=0.20920 (16463/78696, PAGE_STUDY)
A=0.14697 (4153/28258, 14KJPN)
A=0.14439 (2420/16760, 8.3KJPN)
A=0.2096 (1342/6404, 1000G_30x)
A=0.2085 (1044/5008, 1000G)
A=0.1304 (584/4480, Estonian)
A=0.1380 (532/3854, ALSPAC)
A=0.1489 (552/3708, TWINSUK)
A=0.1464 (429/2930, KOREAN)
A=0.1838 (383/2084, HGDP_Stanford)
A=0.2354 (445/1890, HapMap)
A=0.1392 (255/1832, Korea1K)
A=0.148 (148/998, GoNL)
A=0.132 (103/778, PRJEB37584)
A=0.090 (54/600, NorthernSweden)
A=0.190 (41/216, Qatari)
A=0.208 (44/212, Vietnamese)
C=0.416 (74/178, SGDP_PRJ)
A=0.26 (18/70, Ancient Sardinia)
A=0.17 (7/40, GENOME_DK)
C=0.50 (8/16, Siberian)
A=0.50 (8/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DYNLT5 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	305066	C=0.832485	A=0.167515	0.694558	0.029587	0.275855	10
European	Sub	272338	C=0.837951	A=0.162049	0.702884	0.026981	0.270135	2
African	Sub	9526	C=0.6990	A=0.3010	0.488768	0.090699	0.420533	0
African Others	Sub	372	C=0.645	A=0.355	0.403226	0.112903	0.483871	0
African American	Sub	9154	C=0.7012	A=0.2988	0.492244	0.089797	0.417959	0
Asian	Sub	3928	C=0.8628	A=0.1372	0.744399	0.018839	0.236762	0
East Asian	Sub	3182	C=0.8551	A=0.1449	0.72973	0.019485	0.250786	0
Other Asian	Sub	746	C=0.895	A=0.105	0.806971	0.016086	0.176944	1
Latin American 1	Sub	1074	C=0.8091	A=0.1909	0.655493	0.037244	0.307263	0
Latin American 2	Sub	3156	C=0.8739	A=0.1261	0.759823	0.012041	0.228137	1
South Asian	Sub	5224	C=0.7789	A=0.2211	0.612557	0.054747	0.332695	2
Other	Sub	9820	C=0.8160	A=0.1840	0.670265	0.038289	0.291446	3

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
Allele Frequency Aggregator	Total	Global	300030	C=0.832817	A=0.167183
Allele Frequency Aggregator	European	Sub	269244	C=0.837772	A=0.162228
Allele Frequency Aggregator	Other	Sub	9020	C=0.8157	A=0.1843
Allele Frequency Aggregator	African	Sub	8384	C=0.6992	A=0.3008
Allele Frequency Aggregator	South Asian	Sub	5224	C=0.7789	A=0.2211
Allele Frequency Aggregator	Asian	Sub	3928	C=0.8628	A=0.1372
Allele Frequency Aggregator	Latin American 2	Sub	3156	C=0.8739	A=0.1261
Allele Frequency Aggregator	Latin American 1	Sub	1074	C=0.8091	A=0.1909
TopMed	Global	Study-wide	264690	C=0.800604	A=0.199396
gnomAD - Genomes	Global	Study-wide	139800	C=0.804878	A=0.195122
gnomAD - Genomes	European	Sub	75800	C=0.84805	A=0.15195
gnomAD - Genomes	African	Sub	41810	C=0.70911	A=0.29089
gnomAD - Genomes	American	Sub	13608	C=0.85516	A=0.14484
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.7565	A=0.2435
gnomAD - Genomes	East Asian	Sub	3116	C=0.8639	A=0.1361
gnomAD - Genomes	Other	Sub	2144	C=0.8162	A=0.1838
The PAGE Study	Global	Study-wide	78696	C=0.79080	A=0.20920
The PAGE Study	AfricanAmerican	Sub	32514	C=0.71403	A=0.28597
The PAGE Study	Mexican	Sub	10810	C=0.87632	A=0.12368
The PAGE Study	Asian	Sub	8318	C=0.8589	A=0.1411
The PAGE Study	PuertoRican	Sub	7918	C=0.8090	A=0.1910
The PAGE Study	NativeHawaiian	Sub	4532	C=0.8583	A=0.1417
The PAGE Study	Cuban	Sub	4230	C=0.8270	A=0.1730
The PAGE Study	Dominican	Sub	3828	C=0.7827	A=0.2173
The PAGE Study	CentralAmerican	Sub	2448	C=0.8709	A=0.1291
The PAGE Study	SouthAmerican	Sub	1982	C=0.8734	A=0.1266
The PAGE Study	NativeAmerican	Sub	1260	C=0.8452	A=0.1548
The PAGE Study	SouthAsian	Sub	856	C=0.797	A=0.203
14KJPN	JAPANESE	Study-wide	28258	C=0.85303	A=0.14697
8.3KJPN	JAPANESE	Study-wide	16760	C=0.85561	A=0.14439
1000Genomes_30x	Global	Study-wide	6404	C=0.7904	A=0.2096
1000Genomes_30x	African	Sub	1786	C=0.6708	A=0.3292
1000Genomes_30x	Europe	Sub	1266	C=0.8286	A=0.1714
1000Genomes_30x	South Asian	Sub	1202	C=0.7920	A=0.2080
1000Genomes_30x	East Asian	Sub	1170	C=0.8487	A=0.1513
1000Genomes_30x	American	Sub	980	C=0.888	A=0.112
1000Genomes	Global	Study-wide	5008	C=0.7915	A=0.2085
1000Genomes	African	Sub	1322	C=0.6785	A=0.3215
1000Genomes	East Asian	Sub	1008	C=0.8512	A=0.1488
1000Genomes	Europe	Sub	1006	C=0.8241	A=0.1759
1000Genomes	South Asian	Sub	978	C=0.791	A=0.209
1000Genomes	American	Sub	694	C=0.873	A=0.127
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8696	A=0.1304
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.8620	A=0.1380
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8511	A=0.1489
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.8536	A=0.1464
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.8162	A=0.1838
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.868	A=0.132
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.787	A=0.213
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.794	A=0.206
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.850	A=0.150
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.570	A=0.430
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.986	A=0.014
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.92	A=0.08
HapMap	Global	Study-wide	1890	C=0.7646	A=0.2354
HapMap	American	Sub	770	C=0.814	A=0.186
HapMap	African	Sub	690	C=0.665	A=0.335
HapMap	Asian	Sub	254	C=0.866	A=0.134
HapMap	Europe	Sub	176	C=0.790	A=0.210
Korean Genome Project	KOREAN	Study-wide	1832	C=0.8608	A=0.1392
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.852	A=0.148
CNV burdens in cranial meningiomas	Global	Study-wide	778	C=0.868	A=0.132
CNV burdens in cranial meningiomas	CRM	Sub	778	C=0.868	A=0.132
Northern Sweden	ACPOP	Study-wide	600	C=0.910	A=0.090
Qatari	Global	Study-wide	216	C=0.810	A=0.190
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.792	A=0.208
SGDP_PRJ	Global	Study-wide	178	C=0.416	A=0.584
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	70	C=0.74	A=0.26
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	A=0.17
Siberian	Global	Study-wide	16	C=0.50	A=0.50

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.66769637C>A
GRCh37.p13 chr 1	NC_000001.10:g.67235320C>A

Gene: DYNLT5, dynein light chain Tctex-type family member 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DYNLT5 transcript	NM_152665.3:c.120-750C>A	N/A	Intron Variant
DYNLT5 transcript variant X1	XM_047448666.1:c.69-750C>A	N/A	Intron Variant
DYNLT5 transcript variant X2	XM_047448667.1:c.120-750C… XM_047448667.1:c.120-750C>A	N/A	Intron Variant
DYNLT5 transcript variant X3	XM_047448668.1:c.120-750C… XM_047448668.1:c.120-750C>A	N/A	Intron Variant
DYNLT5 transcript variant X4	XM_047448675.1:c.120-750C… XM_047448675.1:c.120-750C>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
GRCh38.p14 chr 1	NC_000001.11:g.66769637=	NC_000001.11:g.66769637C>A
GRCh37.p13 chr 1	NC_000001.10:g.67235320=	NC_000001.10:g.67235320C>A
TCTEX1D1 transcript	NM_152665.2:c.120-750=	NM_152665.2:c.120-750C>A
DYNLT5 transcript	NM_152665.3:c.120-750=	NM_152665.3:c.120-750C>A
TCTEX1D1 transcript variant X1	XM_005270595.1:c.90-750=	XM_005270595.1:c.90-750C>A
DYNLT5 transcript variant X1	XM_047448666.1:c.69-750=	XM_047448666.1:c.69-750C>A
DYNLT5 transcript variant X2	XM_047448667.1:c.120-750=	XM_047448667.1:c.120-750C>A
DYNLT5 transcript variant X3	XM_047448668.1:c.120-750=	XM_047448668.1:c.120-750C>A
DYNLT5 transcript variant X4	XM_047448675.1:c.120-750=	XM_047448675.1:c.120-750C>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#.

129 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss20452332	Apr 05, 2004 (121)
2	ABI	ss43873769	Mar 14, 2006 (126)
3	ILLUMINA	ss66798546	Dec 01, 2006 (127)
4	ILLUMINA	ss67036408	Dec 01, 2006 (127)
5	ILLUMINA	ss67360358	Dec 01, 2006 (127)
6	ILLUMINA	ss70415539	May 17, 2007 (127)
7	ILLUMINA	ss70583287	May 26, 2008 (130)
8	ILLUMINA	ss71125870	May 17, 2007 (127)
9	ILLUMINA	ss75838594	Dec 07, 2007 (129)
10	HGSV	ss78489787	Dec 07, 2007 (129)
11	KRIBB_YJKIM	ss85268145	Dec 16, 2007 (130)
12	HUMANGENOME_JCVI	ss99214726	Feb 06, 2009 (130)
13	BGI	ss102749258	Dec 01, 2009 (131)
14	1000GENOMES	ss108273910	Jan 23, 2009 (130)
15	ILLUMINA	ss121599035	Dec 01, 2009 (131)
16	ENSEMBL	ss138914526	Dec 01, 2009 (131)
17	ILLUMINA	ss153275754	Dec 01, 2009 (131)
18	ILLUMINA	ss159233017	Dec 01, 2009 (131)
19	ILLUMINA	ss160297220	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss164466170	Jul 04, 2010 (132)
21	ILLUMINA	ss170217706	Jul 04, 2010 (132)
22	ILLUMINA	ss172234281	Jul 04, 2010 (132)
23	BUSHMAN	ss198565292	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss205461197	Jul 04, 2010 (132)
25	1000GENOMES	ss218430707	Jul 14, 2010 (132)
26	1000GENOMES	ss230568056	Jul 14, 2010 (132)
27	1000GENOMES	ss238256277	Jul 15, 2010 (132)
28	GMI	ss275859398	May 04, 2012 (137)
29	PJP	ss290528621	May 09, 2011 (134)
30	ILLUMINA	ss479813329	May 04, 2012 (137)
31	ILLUMINA	ss479820464	May 04, 2012 (137)
32	ILLUMINA	ss480405636	Sep 08, 2015 (146)
33	ILLUMINA	ss484705151	May 04, 2012 (137)
34	ILLUMINA	ss536811109	Sep 08, 2015 (146)
35	TISHKOFF	ss554206463	Apr 25, 2013 (138)
36	SSMP	ss648078988	Apr 25, 2013 (138)
37	ILLUMINA	ss778414887	Sep 08, 2015 (146)
38	ILLUMINA	ss782799347	Sep 08, 2015 (146)
39	ILLUMINA	ss783764887	Sep 08, 2015 (146)
40	ILLUMINA	ss825384813	Apr 01, 2015 (144)
41	ILLUMINA	ss832052303	Sep 08, 2015 (146)
42	ILLUMINA	ss832745354	Jul 12, 2019 (153)
43	ILLUMINA	ss833870202	Sep 08, 2015 (146)
44	EVA-GONL	ss975246312	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1067953353	Aug 21, 2014 (142)
46	1000GENOMES	ss1291219105	Aug 21, 2014 (142)
47	DDI	ss1425837193	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1574120240	Apr 01, 2015 (144)
49	EVA_DECODE	ss1584615761	Apr 01, 2015 (144)
50	EVA_UK10K_ALSPAC	ss1600348351	Apr 01, 2015 (144)
51	EVA_UK10K_TWINSUK	ss1643342384	Apr 01, 2015 (144)
52	EVA_SVP	ss1712340194	Apr 01, 2015 (144)
53	ILLUMINA	ss1751930148	Sep 08, 2015 (146)
54	HAMMER_LAB	ss1794494913	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1918454304	Feb 12, 2016 (147)
56	ILLUMINA	ss1945997659	Feb 12, 2016 (147)
57	ILLUMINA	ss1958280605	Feb 12, 2016 (147)
58	JJLAB	ss2019744491	Sep 14, 2016 (149)
59	USC_VALOUEV	ss2147760277	Dec 20, 2016 (150)
60	HUMAN_LONGEVITY	ss2163185287	Dec 20, 2016 (150)
61	SYSTEMSBIOZJU	ss2624385974	Nov 08, 2017 (151)
62	ILLUMINA	ss2632526792	Nov 08, 2017 (151)
63	GRF	ss2697677848	Nov 08, 2017 (151)
64	ILLUMINA	ss2710674038	Nov 08, 2017 (151)
65	GNOMAD	ss2756068717	Nov 08, 2017 (151)
66	SWEGEN	ss2986947691	Nov 08, 2017 (151)
67	ILLUMINA	ss3021095812	Nov 08, 2017 (151)
68	BIOINF_KMB_FNS_UNIBA	ss3023634015	Nov 08, 2017 (151)
69	CSHL	ss3343492611	Nov 08, 2017 (151)
70	ILLUMINA	ss3625541849	Oct 11, 2018 (152)
71	ILLUMINA	ss3626117215	Oct 11, 2018 (152)
72	ILLUMINA	ss3630562398	Oct 11, 2018 (152)
73	ILLUMINA	ss3632894888	Oct 11, 2018 (152)
74	ILLUMINA	ss3633589599	Oct 11, 2018 (152)
75	ILLUMINA	ss3634328883	Oct 11, 2018 (152)
76	ILLUMINA	ss3635283396	Oct 11, 2018 (152)
77	ILLUMINA	ss3636005334	Oct 11, 2018 (152)
78	ILLUMINA	ss3637033821	Oct 11, 2018 (152)
79	ILLUMINA	ss3637762027	Oct 11, 2018 (152)
80	ILLUMINA	ss3638899968	Oct 11, 2018 (152)
81	ILLUMINA	ss3639447599	Oct 11, 2018 (152)
82	ILLUMINA	ss3640036244	Oct 11, 2018 (152)
83	ILLUMINA	ss3640982379	Oct 11, 2018 (152)
84	ILLUMINA	ss3641276344	Oct 11, 2018 (152)
85	ILLUMINA	ss3642773681	Oct 11, 2018 (152)
86	ILLUMINA	ss3644493585	Oct 11, 2018 (152)
87	URBANLAB	ss3646681095	Oct 11, 2018 (152)
88	ILLUMINA	ss3651422868	Oct 11, 2018 (152)
89	EGCUT_WGS	ss3655017710	Jul 12, 2019 (153)
90	EVA_DECODE	ss3686932716	Jul 12, 2019 (153)
91	ILLUMINA	ss3725031900	Jul 12, 2019 (153)
92	ACPOP	ss3727118893	Jul 12, 2019 (153)
93	ILLUMINA	ss3744047672	Jul 12, 2019 (153)
94	ILLUMINA	ss3744629849	Jul 12, 2019 (153)
95	EVA	ss3746305921	Jul 12, 2019 (153)
96	PAGE_CC	ss3770814995	Jul 12, 2019 (153)
97	ILLUMINA	ss3772131183	Jul 12, 2019 (153)
98	KHV_HUMAN_GENOMES	ss3799312575	Jul 12, 2019 (153)
99	EVA	ss3826214387	Apr 25, 2020 (154)
100	EVA	ss3836494618	Apr 25, 2020 (154)
101	EVA	ss3841901161	Apr 25, 2020 (154)
102	HGDP	ss3847336508	Apr 25, 2020 (154)
103	SGDP_PRJ	ss3849018258	Apr 25, 2020 (154)
104	KRGDB	ss3894045628	Apr 25, 2020 (154)
105	KOGIC	ss3944672168	Apr 25, 2020 (154)
106	EVA	ss3984458461	Apr 25, 2021 (155)
107	EVA	ss3984802174	Apr 25, 2021 (155)
108	EVA	ss4016915291	Apr 25, 2021 (155)
109	TOPMED	ss4452615029	Apr 25, 2021 (155)
110	TOMMO_GENOMICS	ss5144315844	Apr 25, 2021 (155)
111	EVA	ss5237267197	Apr 25, 2021 (155)
112	1000G_HIGH_COVERAGE	ss5242552426	Oct 17, 2022 (156)
113	EVA	ss5314622277	Oct 17, 2022 (156)
114	EVA	ss5319249319	Oct 17, 2022 (156)
115	HUGCELL_USP	ss5443587437	Oct 17, 2022 (156)
116	EVA	ss5505879806	Oct 17, 2022 (156)
117	1000G_HIGH_COVERAGE	ss5514971580	Oct 17, 2022 (156)
118	SANFORD_IMAGENETICS	ss5624207700	Oct 17, 2022 (156)
119	SANFORD_IMAGENETICS	ss5625691545	Oct 17, 2022 (156)
120	TOMMO_GENOMICS	ss5669192534	Oct 17, 2022 (156)
121	EVA	ss5799486772	Oct 17, 2022 (156)
122	YY_MCH	ss5800667833	Oct 17, 2022 (156)
123	EVA	ss5832069793	Oct 17, 2022 (156)
124	EVA	ss5847160086	Oct 17, 2022 (156)
125	EVA	ss5847541765	Oct 17, 2022 (156)
126	EVA	ss5848941540	Oct 17, 2022 (156)
127	EVA	ss5908588163	Oct 17, 2022 (156)
128	EVA	ss5937530299	Oct 17, 2022 (156)
129	EVA	ss5979276867	Oct 17, 2022 (156)
130	1000Genomes	NC_000001.10 - 67235320	Oct 11, 2018 (152)
131	1000Genomes_30x	NC_000001.11 - 66769637	Oct 17, 2022 (156)
132	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 67235320	Oct 11, 2018 (152)
133	Genetic variation in the Estonian population	NC_000001.10 - 67235320	Oct 11, 2018 (152)
134	The Danish reference pan genome	NC_000001.10 - 67235320	Apr 25, 2020 (154)
135	gnomAD - Genomes	NC_000001.11 - 66769637	Apr 25, 2021 (155)
136	Genome of the Netherlands Release 5	NC_000001.10 - 67235320	Apr 25, 2020 (154)
137	HGDP-CEPH-db Supplement 1	NC_000001.9 - 67007908	Apr 25, 2020 (154)
138	HapMap	NC_000001.11 - 66769637	Apr 25, 2020 (154)
139	KOREAN population from KRGDB	NC_000001.10 - 67235320	Apr 25, 2020 (154)
140	Korean Genome Project	NC_000001.11 - 66769637	Apr 25, 2020 (154)
141	Northern Sweden	NC_000001.10 - 67235320	Jul 12, 2019 (153)
142	The PAGE Study	NC_000001.11 - 66769637	Jul 12, 2019 (153)
143	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 67235320	Apr 25, 2021 (155)
144	CNV burdens in cranial meningiomas	NC_000001.10 - 67235320	Apr 25, 2021 (155)
145	Qatari	NC_000001.10 - 67235320	Apr 25, 2020 (154)
146	SGDP_PRJ	NC_000001.10 - 67235320	Apr 25, 2020 (154)
147	Siberian	NC_000001.10 - 67235320	Apr 25, 2020 (154)
148	8.3KJPN	NC_000001.10 - 67235320	Apr 25, 2021 (155)
149	14KJPN	NC_000001.11 - 66769637	Oct 17, 2022 (156)
150	TopMed	NC_000001.11 - 66769637	Apr 25, 2021 (155)
151	UK 10K study - Twins	NC_000001.10 - 67235320	Oct 11, 2018 (152)
152	A Vietnamese Genetic Variation Database	NC_000001.10 - 67235320	Jul 12, 2019 (153)
153	ALFA	NC_000001.11 - 66769637	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)
rs61149693	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78489787, ss3638899968, ss3639447599	NC_000001.8:66947340:C:A	NC_000001.11:66769636:C:A	(self)
14400, ss108273910, ss164466170, ss198565292, ss205461197, ss275859398, ss290528621, ss479813329, ss825384813, ss1584615761, ss1712340194, ss3642773681, ss3847336508	NC_000001.9:67007907:C:A	NC_000001.11:66769636:C:A	(self)
1949090, 1067995, 755958, 1535956, 455831, 1223022, 403758, 28101, 7769, 496234, 1035238, 276631, 2285151, 1067995, 223623, ss218430707, ss230568056, ss238256277, ss479820464, ss480405636, ss484705151, ss536811109, ss554206463, ss648078988, ss778414887, ss782799347, ss783764887, ss832052303, ss832745354, ss833870202, ss975246312, ss1067953353, ss1291219105, ss1425837193, ss1574120240, ss1600348351, ss1643342384, ss1751930148, ss1794494913, ss1918454304, ss1945997659, ss1958280605, ss2019744491, ss2147760277, ss2624385974, ss2632526792, ss2697677848, ss2710674038, ss2756068717, ss2986947691, ss3021095812, ss3343492611, ss3625541849, ss3626117215, ss3630562398, ss3632894888, ss3633589599, ss3634328883, ss3635283396, ss3636005334, ss3637033821, ss3637762027, ss3640036244, ss3640982379, ss3641276344, ss3644493585, ss3651422868, ss3655017710, ss3727118893, ss3744047672, ss3744629849, ss3746305921, ss3772131183, ss3826214387, ss3836494618, ss3849018258, ss3894045628, ss3984458461, ss3984802174, ss4016915291, ss5144315844, ss5237267197, ss5314622277, ss5319249319, ss5505879806, ss5624207700, ss5625691545, ss5799486772, ss5832069793, ss5847160086, ss5847541765, ss5937530299, ss5979276867	NC_000001.10:67235319:C:A	NC_000001.11:66769636:C:A	(self)
2497515, 13744294, 87723, 1050169, 36464, 3029638, 16221364, 12862080217, ss2163185287, ss3023634015, ss3646681095, ss3686932716, ss3725031900, ss3770814995, ss3799312575, ss3841901161, ss3944672168, ss4452615029, ss5242552426, ss5443587437, ss5514971580, ss5669192534, ss5800667833, ss5848941540, ss5908588163	NC_000001.11:66769636:C:A	NC_000001.11:66769636:C:A	(self)
ss20452332	NT_032977.6:28798388:C:A	NC_000001.11:66769636:C:A	(self)
ss43873769, ss66798546, ss67036408, ss67360358, ss70415539, ss70583287, ss71125870, ss75838594, ss85268145, ss99214726, ss102749258, ss121599035, ss138914526, ss153275754, ss159233017, ss160297220, ss170217706, ss172234281	NT_032977.9:37207237:C:A	NC_000001.11:66769636:C:A	(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 rs12727422

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

rs12727422