Name: rs268672
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.

rs268672

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:40395697 (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>C / A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.403986 (106931/264690, TOPMED)
A=0.487097 (59455/122060, ALFA)
A=0.492960 (59727/121160, ExAC) (+ 20 more)
G=0.17443 (4929/28258, 14KJPN)
G=0.17363 (2910/16760, 8.3KJPN)
A=0.39090 (5084/13006, GO-ESP)
A=0.4600 (2946/6404, 1000G_30x)
A=0.4681 (2344/5008, 1000G)
G=0.4893 (2192/4480, Estonian)
A=0.4665 (1798/3854, ALSPAC)
A=0.4641 (1721/3708, TWINSUK)
G=0.2075 (608/2930, KOREAN)
G=0.1883 (345/1832, Korea1K)
G=0.4852 (853/1758, HapMap)
A=0.460 (459/998, GoNL)
G=0.206 (162/788, PRJEB37584)
A=0.462 (277/600, NorthernSweden)
G=0.212 (113/534, MGP)
A=0.301 (103/342, SGDP_PRJ)
A=0.487 (148/304, FINRISK)
A=0.468 (101/216, Qatari)
A=0.42 (17/40, GENOME_DK)
A=0.37 (14/38, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PRX : Synonymous Variant
Publications: 1 citation
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	127158	A=0.483422	C=0.000000, G=0.516578
European	Sub	107040	A=0.494731	C=0.000000, G=0.505269
African	Sub	5152	A=0.2384	C=0.0000, G=0.7616
African Others	Sub	182	A=0.132	C=0.000, G=0.868
African American	Sub	4970	A=0.2423	C=0.0000, G=0.7577
Asian	Sub	340	A=0.829	C=0.000, G=0.171
East Asian	Sub	218	A=0.849	C=0.000, G=0.151
Other Asian	Sub	122	A=0.795	C=0.000, G=0.205
Latin American 1	Sub	870	A=0.413	C=0.000, G=0.587
Latin American 2	Sub	1510	A=0.4788	C=0.0000, G=0.5212
South Asian	Sub	84	A=0.69	C=0.00, G=0.31
Other	Sub	12162	A=0.48224	C=0.00000, G=0.51776

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	A=0.403986	G=0.596014
Allele Frequency Aggregator	Total	Global	122060	A=0.487097	C=0.000000, G=0.512903
Allele Frequency Aggregator	European	Sub	103892	A=0.495543	C=0.000000, G=0.504457
Allele Frequency Aggregator	Other	Sub	11356	A=0.48653	C=0.00000, G=0.51347
Allele Frequency Aggregator	African	Sub	4008	A=0.2557	C=0.0000, G=0.7443
Allele Frequency Aggregator	Latin American 2	Sub	1510	A=0.4788	C=0.0000, G=0.5212
Allele Frequency Aggregator	Latin American 1	Sub	870	A=0.413	C=0.000, G=0.587
Allele Frequency Aggregator	Asian	Sub	340	A=0.829	C=0.000, G=0.171
Allele Frequency Aggregator	South Asian	Sub	84	A=0.69	C=0.00, G=0.31
ExAC	Global	Study-wide	121160	A=0.492960	G=0.507040
ExAC	Europe	Sub	73254	A=0.49208	G=0.50792
ExAC	Asian	Sub	25136	A=0.62158	G=0.37842
ExAC	American	Sub	11558	A=0.48226	G=0.51774
ExAC	African	Sub	10308	A=0.19596	G=0.80404
ExAC	Other	Sub	904	A=0.511	G=0.489
14KJPN	JAPANESE	Study-wide	28258	A=0.82557	G=0.17443
8.3KJPN	JAPANESE	Study-wide	16760	A=0.82637	G=0.17363
GO Exome Sequencing Project	Global	Study-wide	13006	A=0.39090	G=0.60910
GO Exome Sequencing Project	European American	Sub	8600	A=0.4824	G=0.5176
GO Exome Sequencing Project	African American	Sub	4406	A=0.2122	G=0.7878
1000Genomes_30x	Global	Study-wide	6404	A=0.4600	G=0.5400
1000Genomes_30x	African	Sub	1786	A=0.1557	G=0.8443
1000Genomes_30x	Europe	Sub	1266	A=0.4961	G=0.5039
1000Genomes_30x	South Asian	Sub	1202	A=0.5291	G=0.4709
1000Genomes_30x	East Asian	Sub	1170	A=0.7658	G=0.2342
1000Genomes_30x	American	Sub	980	A=0.518	G=0.482
1000Genomes	Global	Study-wide	5008	A=0.4681	G=0.5319
1000Genomes	African	Sub	1322	A=0.1573	G=0.8427
1000Genomes	East Asian	Sub	1008	A=0.7599	G=0.2401
1000Genomes	Europe	Sub	1006	A=0.4940	G=0.5060
1000Genomes	South Asian	Sub	978	A=0.522	G=0.478
1000Genomes	American	Sub	694	A=0.522	G=0.478
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5107	G=0.4893
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4665	G=0.5335
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.4641	G=0.5359
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7925	G=0.2075
Korean Genome Project	KOREAN	Study-wide	1832	A=0.8117	G=0.1883
HapMap	Global	Study-wide	1758	A=0.5148	G=0.4852
HapMap	American	Sub	760	A=0.549	G=0.451
HapMap	African	Sub	568	A=0.308	G=0.692
HapMap	Asian	Sub	254	A=0.811	G=0.189
HapMap	Europe	Sub	176	A=0.608	G=0.392
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.460	G=0.540
CNV burdens in cranial meningiomas	Global	Study-wide	788	A=0.794	G=0.206
CNV burdens in cranial meningiomas	CRM	Sub	788	A=0.794	G=0.206
Northern Sweden	ACPOP	Study-wide	600	A=0.462	G=0.538
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.788	G=0.212
SGDP_PRJ	Global	Study-wide	342	A=0.301	G=0.699
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.487	G=0.513
Qatari	Global	Study-wide	216	A=0.468	G=0.532
The Danish reference pan genome	Danish	Study-wide	40	A=0.42	G=0.57
Siberian	Global	Study-wide	38	A=0.37	G=0.63

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 19	NC_000019.10:g.40395697A>C
GRCh38.p14 chr 19	NC_000019.10:g.40395697A>G
GRCh37.p13 chr 19	NC_000019.9:g.40901604A>C
GRCh37.p13 chr 19	NC_000019.9:g.40901604A>G
PRX RefSeqGene (LRG_265)	NG_007979.1:g.22668T>G
PRX RefSeqGene (LRG_265)	NG_007979.1:g.22668T>C

Gene: PRX, periaxin (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRX transcript variant 1	NM_020956.2:c.*2860=	N/A	3 Prime UTR Variant
PRX transcript variant 2	NM_181882.3:c.2655T>G	P [CCT] > P [CCG]	Coding Sequence Variant
periaxin isoform 2	NP_870998.2:p.Pro885=	P (Pro) > P (Pro)	Synonymous Variant
PRX transcript variant 2	NM_181882.3:c.2655T>C	P [CCT] > P [CCC]	Coding Sequence Variant
periaxin isoform 2	NP_870998.2:p.Pro885=	P (Pro) > P (Pro)	Synonymous Variant
PRX transcript variant X1	XM_011527171.3:c.2940T>G	P [CCT] > P [CCG]	Coding Sequence Variant
periaxin isoform X1	XP_011525473.2:p.Pro980=	P (Pro) > P (Pro)	Synonymous Variant
PRX transcript variant X1	XM_011527171.3:c.2940T>C	P [CCT] > P [CCC]	Coding Sequence Variant
periaxin isoform X1	XP_011525473.2:p.Pro980=	P (Pro) > P (Pro)	Synonymous Variant
PRX transcript variant X1	XM_017027047.2:c.2553T>G	P [CCT] > P [CCG]	Coding Sequence Variant
periaxin isoform X1	XP_016882536.1:p.Pro851=	P (Pro) > P (Pro)	Synonymous Variant
PRX transcript variant X1	XM_017027047.2:c.2553T>C	P [CCT] > P [CCC]	Coding Sequence Variant
periaxin isoform X1	XP_016882536.1:p.Pro851=	P (Pro) > P (Pro)	Synonymous 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: G (allele ID: 135495 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000118076.12	not specified	Benign-Likely-Benign
RCV000326806.9	Charcot-Marie-Tooth disease type 4	Benign
RCV000576609.7	Charcot-Marie-Tooth disease type 4F	Benign
RCV001173792.3	Charcot-Marie-Tooth disease	Benign
RCV001705852.2	not provided	Benign
RCV001789174.3	Dejerine-Sottas disease	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	A=	C	G
GRCh38.p14 chr 19	NC_000019.10:g.40395697=	NC_000019.10:g.40395697A>C	NC_000019.10:g.40395697A>G
GRCh37.p13 chr 19	NC_000019.9:g.40901604=	NC_000019.9:g.40901604A>C	NC_000019.9:g.40901604A>G
PRX RefSeqGene (LRG_265)	NG_007979.1:g.22668=	NG_007979.1:g.22668T>G	NG_007979.1:g.22668T>C
PRX transcript variant 2	NM_181882.3:c.2655=	NM_181882.3:c.2655T>G	NM_181882.3:c.2655T>C
PRX transcript variant 2	NM_181882.2:c.2655=	NM_181882.2:c.2655T>G	NM_181882.2:c.2655T>C
PRX transcript variant 1	NM_020956.2:c.*2860=	NM_020956.2:c.*2860T>G	NM_020956.2:c.*2860T>C
PRX transcript variant 3	NM_001411127.1:c.2940=	NM_001411127.1:c.2940T>G	NM_001411127.1:c.2940T>C
PRX transcript variant X1	XM_011527171.3:c.2940=	XM_011527171.3:c.2940T>G	XM_011527171.3:c.2940T>C
PRX transcript variant X1	XM_017027047.2:c.2553=	XM_017027047.2:c.2553T>G	XM_017027047.2:c.2553T>C
PRX transcript variant X3	XM_017027047.1:c.2553=	XM_017027047.1:c.2553T>G	XM_017027047.1:c.2553T>C
periaxin isoform 2	NP_870998.2:p.Pro885=	NP_870998.2:p.Pro885=	NP_870998.2:p.Pro885=
periaxin isoform X1	XP_011525473.2:p.Pro980=	XP_011525473.2:p.Pro980=	XP_011525473.2:p.Pro980=
periaxin isoform X1	XP_016882536.1:p.Pro851=	XP_016882536.1:p.Pro851=	XP_016882536.1:p.Pro851=

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#.

142 SubSNP, 27 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss349639	Jul 12, 2000 (79)
2	SC_JCM	ss588297	Jul 16, 2000 (80)
3	KWOK	ss1070257	Oct 04, 2000 (86)
4	YUSUKE	ss4931213	Aug 28, 2002 (108)
5	BCM_SSAHASNP	ss10940527	Jul 11, 2003 (116)
6	CSHL-HAPMAP	ss19408441	Feb 27, 2004 (120)
7	SSAHASNP	ss21540500	Apr 05, 2004 (121)
8	ABI	ss44185061	Mar 15, 2006 (126)
9	ILLUMINA	ss65742039	Oct 15, 2006 (127)
10	ILLUMINA	ss74899161	Dec 06, 2007 (129)
11	HGSV	ss85979167	Dec 15, 2007 (130)
12	CORNELL	ss86270180	Mar 23, 2008 (129)
13	BCMHGSC_JDW	ss90974939	Mar 24, 2008 (129)
14	HUMANGENOME_JCVI	ss96267683	Feb 05, 2009 (130)
15	ILLUMINA-UK	ss117707306	Feb 14, 2009 (130)
16	KRIBB_YJKIM	ss119347222	Dec 01, 2009 (131)
17	ENSEMBL	ss136263912	Dec 01, 2009 (131)
18	ENSEMBL	ss137677800	Dec 01, 2009 (131)
19	GMI	ss155904881	Dec 01, 2009 (131)
20	SEATTLESEQ	ss159739792	Dec 01, 2009 (131)
21	ILLUMINA	ss160569781	Dec 01, 2009 (131)
22	COMPLETE_GENOMICS	ss168204373	Jul 04, 2010 (132)
23	COMPLETE_GENOMICS	ss169752790	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss171765892	Jul 04, 2010 (132)
25	ILLUMINA	ss173429800	Jul 04, 2010 (132)
26	BUSHMAN	ss203755457	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208556270	Jul 04, 2010 (132)
28	1000GENOMES	ss210946653	Jul 14, 2010 (132)
29	1000GENOMES	ss211964428	Jul 14, 2010 (132)
30	1000GENOMES	ss228142079	Jul 14, 2010 (132)
31	1000GENOMES	ss237679021	Jul 15, 2010 (132)
32	1000GENOMES	ss243884787	Jul 15, 2010 (132)
33	GMI	ss283211449	May 04, 2012 (137)
34	NHLBI-ESP	ss342498265	May 09, 2011 (134)
35	ILLUMINA	ss480635379	May 04, 2012 (137)
36	ILLUMINA	ss480650642	May 04, 2012 (137)
37	ILLUMINA	ss481493260	Sep 08, 2015 (146)
38	ILLUMINA	ss485112798	May 04, 2012 (137)
39	1000GENOMES	ss491159279	May 04, 2012 (137)
40	CLINSEQ_SNP	ss491767312	May 04, 2012 (137)
41	ILLUMINA	ss537116126	Sep 08, 2015 (146)
42	TISHKOFF	ss565985939	Apr 25, 2013 (138)
43	SSMP	ss661850715	Apr 25, 2013 (138)
44	ILLUMINA	ss778503331	Sep 08, 2015 (146)
45	ILLUMINA	ss783002707	Sep 08, 2015 (146)
46	ILLUMINA	ss783963151	Sep 08, 2015 (146)
47	ILLUMINA	ss832259886	Sep 08, 2015 (146)
48	ILLUMINA	ss833959489	Sep 08, 2015 (146)
49	EVA-GONL	ss994304494	Aug 21, 2014 (142)
50	JMKIDD_LAB	ss1067589473	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss1081907401	Aug 21, 2014 (142)
52	1000GENOMES	ss1363183393	Aug 21, 2014 (142)
53	DDI	ss1428404394	Apr 01, 2015 (144)
54	CLINVAR	ss1457615063	Nov 23, 2014 (142)
55	EVA_GENOME_DK	ss1578641646	Apr 01, 2015 (144)
56	EVA_FINRISK	ss1584117581	Apr 01, 2015 (144)
57	EVA_UK10K_ALSPAC	ss1637978784	Apr 01, 2015 (144)
58	EVA_UK10K_TWINSUK	ss1680972817	Apr 01, 2015 (144)
59	EVA_EXAC	ss1693606802	Apr 01, 2015 (144)
60	EVA_MGP	ss1711513412	Apr 01, 2015 (144)
61	EVA_SVP	ss1713662967	Apr 01, 2015 (144)
62	ILLUMINA	ss1752285459	Sep 08, 2015 (146)
63	HAMMER_LAB	ss1809309671	Sep 08, 2015 (146)
64	WEILL_CORNELL_DGM	ss1937798043	Feb 12, 2016 (147)
65	ILLUMINA	ss1946535767	Feb 12, 2016 (147)
66	ILLUMINA	ss1959864468	Feb 12, 2016 (147)
67	JJLAB	ss2029678434	Sep 14, 2016 (149)
68	USC_VALOUEV	ss2158218842	Dec 20, 2016 (150)
69	HUMAN_LONGEVITY	ss2225804040	Dec 20, 2016 (150)
70	SYSTEMSBIOZJU	ss2629336487	Nov 08, 2017 (151)
71	ILLUMINA	ss2633540476	Nov 08, 2017 (151)
72	GRF	ss2702829704	Nov 08, 2017 (151)
73	GNOMAD	ss2744002774	Nov 08, 2017 (151)
74	GNOMAD	ss2750190427	Nov 08, 2017 (151)
75	GNOMAD	ss2962920793	Nov 08, 2017 (151)
76	SWEGEN	ss3017480562	Nov 08, 2017 (151)
77	ILLUMINA	ss3021906234	Nov 08, 2017 (151)
78	EVA_SAMSUNG_MC	ss3023072143	Nov 08, 2017 (151)
79	BIOINF_KMB_FNS_UNIBA	ss3028670876	Nov 08, 2017 (151)
80	CSHL	ss3352304982	Nov 08, 2017 (151)
81	ILLUMINA	ss3625741802	Oct 12, 2018 (152)
82	ILLUMINA	ss3627933700	Oct 12, 2018 (152)
83	ILLUMINA	ss3631511900	Oct 12, 2018 (152)
84	ILLUMINA	ss3633890870	Oct 12, 2018 (152)
85	ILLUMINA	ss3634735692	Oct 12, 2018 (152)
86	ILLUMINA	ss3635577668	Oct 12, 2018 (152)
87	ILLUMINA	ss3636423069	Oct 12, 2018 (152)
88	ILLUMINA	ss3637329409	Oct 12, 2018 (152)
89	ILLUMINA	ss3638227559	Oct 12, 2018 (152)
90	ILLUMINA	ss3640443000	Oct 12, 2018 (152)
91	OMUKHERJEE_ADBS	ss3646536827	Oct 12, 2018 (152)
92	URBANLAB	ss3650919149	Oct 12, 2018 (152)
93	ILLUMINA	ss3652332190	Oct 12, 2018 (152)
94	EGCUT_WGS	ss3684247347	Jul 13, 2019 (153)
95	EVA_DECODE	ss3702777590	Jul 13, 2019 (153)
96	ACPOP	ss3743043280	Jul 13, 2019 (153)
97	EVA	ss3756070441	Jul 13, 2019 (153)
98	PACBIO	ss3788532569	Jul 13, 2019 (153)
99	PACBIO	ss3793442768	Jul 13, 2019 (153)
100	PACBIO	ss3798329573	Jul 13, 2019 (153)
101	KHV_HUMAN_GENOMES	ss3821318438	Jul 13, 2019 (153)
102	EVA	ss3825289177	Apr 27, 2020 (154)
103	EVA	ss3825532917	Apr 27, 2020 (154)
104	EVA	ss3825547375	Apr 27, 2020 (154)
105	EVA	ss3825936267	Apr 27, 2020 (154)
106	EVA	ss3835464517	Apr 27, 2020 (154)
107	EVA	ss3841354884	Apr 27, 2020 (154)
108	EVA	ss3846860762	Apr 27, 2020 (154)
109	SGDP_PRJ	ss3888226779	Apr 27, 2020 (154)
110	KRGDB	ss3938341591	Apr 27, 2020 (154)
111	KOGIC	ss3981360058	Apr 27, 2020 (154)
112	FSA-LAB	ss3984154441	Apr 27, 2021 (155)
113	EVA	ss3984742168	Apr 27, 2021 (155)
114	EVA	ss3986080814	Apr 27, 2021 (155)
115	EVA	ss3986797786	Apr 27, 2021 (155)
116	TOPMED	ss5074991541	Apr 27, 2021 (155)
117	TOMMO_GENOMICS	ss5227781704	Apr 27, 2021 (155)
118	EVA	ss5236961346	Apr 27, 2021 (155)
119	EVA	ss5237247414	Apr 27, 2021 (155)
120	EVA	ss5237672577	Oct 16, 2022 (156)
121	1000G_HIGH_COVERAGE	ss5307264120	Oct 16, 2022 (156)
122	TRAN_CS_UWATERLOO	ss5314453235	Oct 16, 2022 (156)
123	EVA	ss5315975185	Oct 16, 2022 (156)
124	HUGCELL_USP	ss5499787528	Oct 16, 2022 (156)
125	EVA	ss5512104493	Oct 16, 2022 (156)
126	1000G_HIGH_COVERAGE	ss5613002991	Oct 16, 2022 (156)
127	EVA	ss5623977891	Oct 16, 2022 (156)
128	EVA	ss5624090409	Oct 16, 2022 (156)
129	SANFORD_IMAGENETICS	ss5662401371	Oct 16, 2022 (156)
130	TOMMO_GENOMICS	ss5786421965	Oct 16, 2022 (156)
131	EVA	ss5800008944	Oct 16, 2022 (156)
132	EVA	ss5800073384	Oct 16, 2022 (156)
133	YY_MCH	ss5817606188	Oct 16, 2022 (156)
134	EVA	ss5840556555	Oct 16, 2022 (156)
135	EVA	ss5847844281	Oct 16, 2022 (156)
136	EVA	ss5848492925	Oct 16, 2022 (156)
137	EVA	ss5852292562	Oct 16, 2022 (156)
138	EVA	ss5928122363	Oct 16, 2022 (156)
139	EVA	ss5936573971	Oct 16, 2022 (156)
140	EVA	ss5953815861	Oct 16, 2022 (156)
141	EVA	ss5981053754	Oct 16, 2022 (156)
142	EVA	ss5981312577	Oct 16, 2022 (156)
143	1000Genomes	NC_000019.9 - 40901604	Oct 12, 2018 (152)
144	1000Genomes_30x	NC_000019.10 - 40395697	Oct 16, 2022 (156)
145	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 40901604	Oct 12, 2018 (152)
146	Genetic variation in the Estonian population	NC_000019.9 - 40901604	Oct 12, 2018 (152)
147	ExAC	NC_000019.9 - 40901604	Oct 12, 2018 (152)
148	FINRISK	NC_000019.9 - 40901604	Apr 27, 2020 (154)
149	The Danish reference pan genome	NC_000019.9 - 40901604	Apr 27, 2020 (154)
150	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540186099 (NC_000019.10:40395696:A:C 0/139746) Row 540186100 (NC_000019.10:40395696:A:G 82501/139680)	-	Apr 27, 2021 (155)
151	gnomAD - Genomes Submission ignored due to conflicting rows: Row 540186099 (NC_000019.10:40395696:A:C 0/139746) Row 540186100 (NC_000019.10:40395696:A:G 82501/139680)	-	Apr 27, 2021 (155)
152	gnomAD - Exomes Submission ignored due to conflicting rows: Row 13316458 (NC_000019.9:40901603:A:A 250910/250912, NC_000019.9:40901603:A:C 2/250912) Row 13316459 (NC_000019.9:40901603:A:A 125458/250912, NC_000019.9:40901603:A:G 125454/250912)	-	Jul 13, 2019 (153)
153	gnomAD - Exomes Submission ignored due to conflicting rows: Row 13316458 (NC_000019.9:40901603:A:A 250910/250912, NC_000019.9:40901603:A:C 2/250912) Row 13316459 (NC_000019.9:40901603:A:A 125458/250912, NC_000019.9:40901603:A:G 125454/250912)	-	Jul 13, 2019 (153)
154	GO Exome Sequencing Project	NC_000019.9 - 40901604	Oct 12, 2018 (152)
155	Genome of the Netherlands Release 5	NC_000019.9 - 40901604	Apr 27, 2020 (154)
156	HapMap	NC_000019.10 - 40395697	Apr 27, 2020 (154)
157	KOREAN population from KRGDB	NC_000019.9 - 40901604	Apr 27, 2020 (154)
158	Korean Genome Project	NC_000019.10 - 40395697	Apr 27, 2020 (154)
159	Medical Genome Project healthy controls from Spanish population	NC_000019.9 - 40901604	Apr 27, 2020 (154)
160	Northern Sweden	NC_000019.9 - 40901604	Jul 13, 2019 (153)
161	CNV burdens in cranial meningiomas	NC_000019.9 - 40901604	Apr 27, 2021 (155)
162	Qatari	NC_000019.9 - 40901604	Apr 27, 2020 (154)
163	SGDP_PRJ	NC_000019.9 - 40901604	Apr 27, 2020 (154)
164	Siberian	NC_000019.9 - 40901604	Apr 27, 2020 (154)
165	8.3KJPN	NC_000019.9 - 40901604	Apr 27, 2021 (155)
166	14KJPN	NC_000019.10 - 40395697	Oct 16, 2022 (156)
167	TopMed	NC_000019.10 - 40395697	Apr 27, 2021 (155)
168	UK 10K study - Twins	NC_000019.9 - 40901604	Oct 12, 2018 (152)
169	ALFA	NC_000019.10 - 40395697	Apr 27, 2021 (155)
170	ClinVar	RCV000118076.12	Oct 16, 2022 (156)
171	ClinVar	RCV000326806.9	Oct 16, 2022 (156)
172	ClinVar	RCV000576609.7	Oct 16, 2022 (156)
173	ClinVar	RCV001173792.3	Oct 16, 2022 (156)
174	ClinVar	RCV001705852.2	Oct 16, 2022 (156)
175	ClinVar	RCV001789174.3	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)
rs3745203	Oct 08, 2002 (108)
rs58748140	May 24, 2008 (130)
rs117594848	Aug 16, 2010 (132)
rs386571942	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2744002774	NC_000019.9:40901603:A:C	NC_000019.10:40395696:A:C	(self)
9827747444	NC_000019.10:40395696:A:C	NC_000019.10:40395696:A:C	(self)
ss85979167, ss90974939, ss117707306, ss160569781, ss168204373, ss169752790, ss171765892, ss203755457, ss208556270, ss210946653, ss211964428, ss283211449, ss480635379, ss491767312, ss1713662967	NC_000019.8:45593443:A:G	NC_000019.10:40395696:A:G	(self)
76591432, 42421679, 29985595, 4111632, 114042, 4824040, 1746139, 18897849, 45518985, 629172, 16328145, 291723, 19839965, 40243759, 10735196, 85751011, 42421679, ss228142079, ss237679021, ss243884787, ss342498265, ss480650642, ss481493260, ss485112798, ss491159279, ss537116126, ss565985939, ss661850715, ss778503331, ss783002707, ss783963151, ss832259886, ss833959489, ss994304494, ss1067589473, ss1081907401, ss1363183393, ss1428404394, ss1578641646, ss1584117581, ss1637978784, ss1680972817, ss1693606802, ss1711513412, ss1752285459, ss1809309671, ss1937798043, ss1946535767, ss1959864468, ss2029678434, ss2158218842, ss2629336487, ss2633540476, ss2702829704, ss2744002774, ss2750190427, ss2962920793, ss3017480562, ss3021906234, ss3023072143, ss3352304982, ss3625741802, ss3627933700, ss3631511900, ss3633890870, ss3634735692, ss3635577668, ss3636423069, ss3637329409, ss3638227559, ss3640443000, ss3646536827, ss3652332190, ss3684247347, ss3743043280, ss3756070441, ss3788532569, ss3793442768, ss3798329573, ss3825289177, ss3825532917, ss3825547375, ss3825936267, ss3835464517, ss3841354884, ss3888226779, ss3938341591, ss3984154441, ss3984742168, ss3986080814, ss3986797786, ss5227781704, ss5315975185, ss5512104493, ss5623977891, ss5624090409, ss5662401371, ss5800008944, ss5800073384, ss5840556555, ss5847844281, ss5848492925, ss5936573971, ss5953815861, ss5981053754, ss5981312577	NC_000019.9:40901603:A:G	NC_000019.10:40395696:A:G	(self)
RCV000118076.12, RCV000326806.9, RCV000576609.7, RCV001173792.3, RCV001705852.2, RCV001789174.3, 100528926, 1696835, 37738059, 120259069, 290537205, 9827747444, ss1457615063, ss2225804040, ss3028670876, ss3650919149, ss3702777590, ss3821318438, ss3846860762, ss3981360058, ss5074991541, ss5236961346, ss5237247414, ss5237672577, ss5307264120, ss5314453235, ss5499787528, ss5613002991, ss5786421965, ss5817606188, ss5852292562, ss5928122363	NC_000019.10:40395696:A:G	NC_000019.10:40395696:A:G	(self)
ss10940527, ss19408441, ss21540500	NT_011109.15:13169821:A:G	NC_000019.10:40395696:A:G	(self)
ss349639, ss588297, ss1070257, ss4931213, ss44185061, ss65742039, ss74899161, ss86270180, ss96267683, ss119347222, ss136263912, ss137677800, ss155904881, ss159739792, ss173429800	NT_011109.16:13169821:A:G	NC_000019.10:40395696:A:G	(self)

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

1 citation for rs268672

PMID	Title	Author	Year	Journal
20935158	Evaluation of polymorphisms in predicted target sites for micro RNAs differentially expressed in endometriosis.	Zhao ZZ et al.	2011	Molecular human reproduction

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

rs268672