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dbSNP Short Genetic Variations

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.

rs1051741

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:225844528 (GRCh38.p13) 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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.096092 (28675/298412, ALFA)
T=0.095606 (25306/264690, TOPMED)
T=0.106277 (26723/251446, GnomAD_exome) (+ 28 more)
T=0.094384 (13227/140140, GnomAD)
T=0.111883 (13579/121368, ExAC)
T=0.10396 (8182/78702, PAGE_STUDY)
T=0.16008 (2683/16760, 8.3KJPN)
T=0.10657 (1386/13006, GO-ESP)
T=0.1264 (633/5008, 1000G)
T=0.0790 (354/4480, Estonian)
T=0.1035 (399/3854, ALSPAC)
T=0.0930 (345/3708, TWINSUK)
T=0.0344 (113/3286, PRJNA289433)
T=0.1263 (369/2922, KOREAN)
T=0.1099 (229/2084, HGDP_Stanford)
T=0.0992 (187/1886, HapMap)
T=0.1245 (228/1832, Korea1K)
T=0.093 (93/998, GoNL)
T=0.102 (81/792, PRJEB37584)
T=0.045 (28/626, Chileans)
T=0.136 (83/610, Vietnamese)
T=0.118 (71/600, NorthernSweden)
T=0.116 (62/534, MGP)
T=0.118 (42/356, PharmGKB)
T=0.059 (18/304, FINRISK)
T=0.056 (12/216, Qatari)
C=0.481 (52/108, SGDP_PRJ)
T=0.04 (4/96, Ancient Sardinia)
T=0.15 (6/40, GENOME_DK)
C=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
EPHX1 : Synonymous Variant
TMEM63A : Intron Variant
Publications
13 citations
Genomic View
See rs on genome
Help

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.p13 chr 1 NC_000001.11:g.225844528C>T
GRCh37.p13 chr 1 NC_000001.10:g.226032229C>T
EPHX1 RefSeqGene NG_009776.1:g.39433C>T
Gene: TMEM63A, transmembrane protein 63A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM63A transcript NM_014698.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X7 XM_006711841.4:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X2 XM_011544328.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X1 XM_011544329.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X4 XM_011544330.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X5 XM_011544331.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X6 XM_011544332.3:c. N/A Genic Downstream Transcript Variant
TMEM63A transcript variant X3 XR_949163.3:n. N/A Intron Variant
TMEM63A transcript variant X8 XR_001737552.2:n. N/A Genic Downstream Transcript Variant
Gene: EPHX1, epoxide hydrolase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
EPHX1 transcript variant 1 NM_000120.4:c.1071C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform a NP_000111.1:p.Asn357= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 8 NM_001378430.1:c.1023C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform c precursor NP_001365359.1:p.Asn341= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 3 NM_001291163.2:c.1071C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform a precursor NP_001278092.1:p.Asn357= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 9 NM_001378431.1:c.843C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform d precursor NP_001365360.1:p.Asn281= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 7 NM_001378429.1:c.1023C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform c precursor NP_001365358.1:p.Asn341= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 4 NM_001378426.1:c.1071C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform a precursor NP_001365355.1:p.Asn357= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 10 NM_001378432.1:c.504C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform e precursor NP_001365361.1:p.Asn168= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 2 NM_001136018.4:c.1071C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform a precursor NP_001129490.1:p.Asn357= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 5 NM_001378427.1:c.1071C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform a precursor NP_001365356.1:p.Asn357= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 6 NM_001378428.1:c.1044C>T N [AAC] > N [AAT] Coding Sequence Variant
epoxide hydrolase 1 isoform b NP_001365357.1:p.Asn348= N (Asn) > N (Asn) Synonymous Variant
EPHX1 transcript variant 12 NR_165625.1:n.1046C>T N/A Non Coding Transcript Variant
EPHX1 transcript variant 11 NR_165624.1:n.461C>T N/A Non Coding Transcript Variant
EPHX1 transcript variant 14 NR_165627.1:n.1191C>T N/A Non Coding Transcript Variant
EPHX1 transcript variant 13 NR_165626.1:n.1459C>T N/A Non Coding Transcript Variant
Help

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 298412 C=0.903908 T=0.096092
European Sub 260434 C=0.903676 T=0.096324
African Sub 10888 C=0.89576 T=0.10424
African Others Sub 386 C=0.896 T=0.104
African American Sub 10502 C=0.89573 T=0.10427
Asian Sub 3974 C=0.8787 T=0.1213
East Asian Sub 3178 C=0.8704 T=0.1296
Other Asian Sub 796 C=0.912 T=0.088
Latin American 1 Sub 1542 C=0.9202 T=0.0798
Latin American 2 Sub 5234 C=0.9465 T=0.0535
South Asian Sub 398 C=0.769 T=0.231
Other Sub 15942 C=0.90735 T=0.09265


Help

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 C=0.904394 T=0.095606
gnomAD - Exomes Global Study-wide 251446 C=0.893723 T=0.106277
gnomAD - Exomes European Sub 135382 C=0.905032 T=0.094968
gnomAD - Exomes Asian Sub 49010 C=0.81047 T=0.18953
gnomAD - Exomes American Sub 34578 C=0.95607 T=0.04393
gnomAD - Exomes African Sub 16256 C=0.88995 T=0.11005
gnomAD - Exomes Ashkenazi Jewish Sub 10080 C=0.93224 T=0.06776
gnomAD - Exomes Other Sub 6140 C=0.9046 T=0.0954
gnomAD - Genomes Global Study-wide 140140 C=0.905616 T=0.094384
gnomAD - Genomes European Sub 75886 C=0.90881 T=0.09119
gnomAD - Genomes African Sub 41996 C=0.89435 T=0.10565
gnomAD - Genomes American Sub 13660 C=0.93023 T=0.06977
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9190 T=0.0810
gnomAD - Genomes East Asian Sub 3126 C=0.8666 T=0.1334
gnomAD - Genomes Other Sub 2150 C=0.8926 T=0.1074
ExAC Global Study-wide 121368 C=0.888117 T=0.111883
ExAC Europe Sub 73328 C=0.90391 T=0.09609
ExAC Asian Sub 25152 C=0.80677 T=0.19323
ExAC American Sub 11574 C=0.96181 T=0.03819
ExAC African Sub 10406 C=0.89150 T=0.10850
ExAC Other Sub 908 C=0.888 T=0.112
The PAGE Study Global Study-wide 78702 C=0.89604 T=0.10396
The PAGE Study AfricanAmerican Sub 32516 C=0.89279 T=0.10721
The PAGE Study Mexican Sub 10810 C=0.94903 T=0.05097
The PAGE Study Asian Sub 8318 C=0.8520 T=0.1480
The PAGE Study PuertoRican Sub 7918 C=0.9223 T=0.0777
The PAGE Study NativeHawaiian Sub 4534 C=0.7938 T=0.2062
The PAGE Study Cuban Sub 4230 C=0.9014 T=0.0986
The PAGE Study Dominican Sub 3828 C=0.8976 T=0.1024
The PAGE Study CentralAmerican Sub 2450 C=0.9380 T=0.0620
The PAGE Study SouthAmerican Sub 1982 C=0.9546 T=0.0454
The PAGE Study NativeAmerican Sub 1260 C=0.9063 T=0.0937
The PAGE Study SouthAsian Sub 856 C=0.772 T=0.228
8.3KJPN JAPANESE Study-wide 16760 C=0.83992 T=0.16008
GO Exome Sequencing Project Global Study-wide 13006 C=0.89343 T=0.10657
GO Exome Sequencing Project European American Sub 8600 C=0.8967 T=0.1033
GO Exome Sequencing Project African American Sub 4406 C=0.8870 T=0.1130
1000Genomes Global Study-wide 5008 C=0.8736 T=0.1264
1000Genomes African Sub 1322 C=0.8949 T=0.1051
1000Genomes East Asian Sub 1008 C=0.8859 T=0.1141
1000Genomes Europe Sub 1006 C=0.9105 T=0.0895
1000Genomes South Asian Sub 978 C=0.746 T=0.254
1000Genomes American Sub 694 C=0.941 T=0.059
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9210 T=0.0790
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8965 T=0.1035
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9070 T=0.0930
MxGDAR/Encodat-PGx Global Study-wide 3286 C=0.9656 T=0.0344
MxGDAR/Encodat-PGx MxGDAR Sub 3286 C=0.9656 T=0.0344
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.8737 T=0.1263
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.8901 T=0.1099
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.891 T=0.109
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.826 T=0.174
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.900 T=0.100
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.891 T=0.109
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.917 T=0.083
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.991 T=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.81 T=0.19
HapMap Global Study-wide 1886 C=0.9008 T=0.0992
HapMap American Sub 770 C=0.882 T=0.118
HapMap African Sub 686 C=0.924 T=0.076
HapMap Asian Sub 254 C=0.878 T=0.122
HapMap Europe Sub 176 C=0.926 T=0.074
Korean Genome Project KOREAN Study-wide 1832 C=0.8755 T=0.1245
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.907 T=0.093
CNV burdens in cranial meningiomas Global Study-wide 792 C=0.898 T=0.102
CNV burdens in cranial meningiomas CRM Sub 792 C=0.898 T=0.102
Chileans Chilean Study-wide 626 C=0.955 T=0.045
A Vietnamese Genetic Variation Database Global Study-wide 610 C=0.864 T=0.136
Northern Sweden ACPOP Study-wide 600 C=0.882 T=0.118
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.884 T=0.116
PharmGKB Aggregated Global Study-wide 356 C=0.882 T=0.118
PharmGKB Aggregated PA149886802 Sub 356 C=0.882 T=0.118
FINRISK Finnish from FINRISK project Study-wide 304 C=0.941 T=0.059
Qatari Global Study-wide 216 C=0.944 T=0.056
SGDP_PRJ Global Study-wide 108 C=0.481 T=0.519
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 96 C=0.96 T=0.04
The Danish reference pan genome Danish Study-wide 40 C=0.85 T=0.15
Siberian Global Study-wide 10 C=0.5 T=0.5
Help

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= T
GRCh38.p13 chr 1 NC_000001.11:g.225844528= NC_000001.11:g.225844528C>T
GRCh37.p13 chr 1 NC_000001.10:g.226032229= NC_000001.10:g.226032229C>T
EPHX1 RefSeqGene NG_009776.1:g.39433= NG_009776.1:g.39433C>T
EPHX1 transcript variant 1 NM_000120.4:c.1071= NM_000120.4:c.1071C>T
EPHX1 transcript variant 1 NM_000120.3:c.1071= NM_000120.3:c.1071C>T
EPHX1 transcript variant 2 NM_001136018.4:c.1071= NM_001136018.4:c.1071C>T
EPHX1 transcript variant 2 NM_001136018.3:c.1071= NM_001136018.3:c.1071C>T
EPHX1 transcript variant 2 NM_001136018.2:c.1071= NM_001136018.2:c.1071C>T
EPHX1 transcript variant 3 NM_001291163.2:c.1071= NM_001291163.2:c.1071C>T
EPHX1 transcript variant 3 NM_001291163.1:c.1071= NM_001291163.1:c.1071C>T
EPHX1 transcript variant 13 NR_165626.1:n.1459= NR_165626.1:n.1459C>T
EPHX1 transcript variant 4 NM_001378426.1:c.1071= NM_001378426.1:c.1071C>T
EPHX1 transcript variant 6 NM_001378428.1:c.1044= NM_001378428.1:c.1044C>T
EPHX1 transcript variant 8 NM_001378430.1:c.1023= NM_001378430.1:c.1023C>T
EPHX1 transcript variant 14 NR_165627.1:n.1191= NR_165627.1:n.1191C>T
EPHX1 transcript variant 5 NM_001378427.1:c.1071= NM_001378427.1:c.1071C>T
EPHX1 transcript variant 7 NM_001378429.1:c.1023= NM_001378429.1:c.1023C>T
EPHX1 transcript variant 12 NR_165625.1:n.1046= NR_165625.1:n.1046C>T
EPHX1 transcript variant 9 NM_001378431.1:c.843= NM_001378431.1:c.843C>T
EPHX1 transcript variant 10 NM_001378432.1:c.504= NM_001378432.1:c.504C>T
EPHX1 transcript variant 11 NR_165624.1:n.461= NR_165624.1:n.461C>T
epoxide hydrolase 1 isoform a NP_000111.1:p.Asn357= NP_000111.1:p.Asn357=
epoxide hydrolase 1 isoform a precursor NP_001129490.1:p.Asn357= NP_001129490.1:p.Asn357=
epoxide hydrolase 1 isoform a precursor NP_001278092.1:p.Asn357= NP_001278092.1:p.Asn357=
epoxide hydrolase 1 isoform a precursor NP_001365355.1:p.Asn357= NP_001365355.1:p.Asn357=
epoxide hydrolase 1 isoform b NP_001365357.1:p.Asn348= NP_001365357.1:p.Asn348=
epoxide hydrolase 1 isoform c precursor NP_001365359.1:p.Asn341= NP_001365359.1:p.Asn341=
epoxide hydrolase 1 isoform a precursor NP_001365356.1:p.Asn357= NP_001365356.1:p.Asn357=
epoxide hydrolase 1 isoform c precursor NP_001365358.1:p.Asn341= NP_001365358.1:p.Asn341=
epoxide hydrolase 1 isoform d precursor NP_001365360.1:p.Asn281= NP_001365360.1:p.Asn281=
epoxide hydrolase 1 isoform e precursor NP_001365361.1:p.Asn168= NP_001365361.1:p.Asn168=
Help

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#.

144 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3235285 Sep 28, 2001 (103)
2 RIKENSNPRC ss5603698 Dec 12, 2002 (110)
3 SNP500CANCER ss48294077 Mar 13, 2006 (126)
4 APPLERA_GI ss48426828 Mar 13, 2006 (126)
5 ILLUMINA ss66731017 Dec 01, 2006 (127)
6 ILLUMINA ss66894683 Dec 01, 2006 (127)
7 ILLUMINA ss67002592 Dec 01, 2006 (127)
8 ILLUMINA ss70375502 May 18, 2007 (127)
9 EGP_SNPS ss70458011 May 18, 2007 (127)
10 ILLUMINA ss70490713 May 25, 2008 (130)
11 ILLUMINA ss71015243 May 18, 2007 (127)
12 ILLUMINA ss75735715 Dec 07, 2007 (129)
13 AFFY ss76590830 Dec 08, 2007 (130)
14 CGM_KYOTO ss76860327 Dec 07, 2007 (129)
15 SI_EXO ss76891177 Dec 07, 2007 (129)
16 KRIBB_YJKIM ss83674195 Dec 15, 2007 (130)
17 PHARMGKB_AB_DME ss84156404 Dec 15, 2007 (130)
18 1000GENOMES ss108997131 Jan 23, 2009 (130)
19 ILLUMINA ss121363717 Dec 01, 2009 (131)
20 ILLUMINA ss152536480 Dec 01, 2009 (131)
21 ILLUMINA ss152786644 Dec 01, 2009 (131)
22 GMI ss156361237 Dec 01, 2009 (131)
23 ILLUMINA ss159102646 Dec 01, 2009 (131)
24 ILLUMINA ss159135520 Dec 01, 2009 (131)
25 SEATTLESEQ ss159700693 Dec 01, 2009 (131)
26 ILLUMINA ss159846006 Dec 01, 2009 (131)
27 ILLUMINA ss159908644 Dec 01, 2009 (131)
28 ILLUMINA ss168871094 Jul 04, 2010 (132)
29 ILLUMINA ss169545959 Jul 04, 2010 (132)
30 ILLUMINA ss170343874 Jul 04, 2010 (132)
31 1000GENOMES ss210754310 Jul 14, 2010 (132)
32 1000GENOMES ss218914716 Jul 14, 2010 (132)
33 1000GENOMES ss230927783 Jul 14, 2010 (132)
34 1000GENOMES ss238535599 Jul 15, 2010 (132)
35 ILLUMINA ss244269562 Jul 04, 2010 (132)
36 BL ss253865951 May 09, 2011 (134)
37 GMI ss276242857 May 04, 2012 (137)
38 NHLBI-ESP ss342032986 May 09, 2011 (134)
39 ILLUMINA ss479154457 Sep 08, 2015 (146)
40 ILLUMINA ss479313012 May 04, 2012 (137)
41 ILLUMINA ss479316119 May 04, 2012 (137)
42 ILLUMINA ss479700450 Sep 08, 2015 (146)
43 ILLUMINA ss484456816 May 04, 2012 (137)
44 1000GENOMES ss489794401 May 04, 2012 (137)
45 CLINSEQ_SNP ss491616222 May 04, 2012 (137)
46 ILLUMINA ss536622132 Sep 08, 2015 (146)
47 TISHKOFF ss555176992 Apr 25, 2013 (138)
48 SSMP ss648748217 Apr 25, 2013 (138)
49 ILLUMINA ss779027260 Sep 08, 2015 (146)
50 ILLUMINA ss782674963 Sep 08, 2015 (146)
51 ILLUMINA ss783643629 Sep 08, 2015 (146)
52 ILLUMINA ss825345113 Apr 01, 2015 (144)
53 ILLUMINA ss831925679 Sep 08, 2015 (146)
54 ILLUMINA ss832615442 Jul 12, 2019 (153)
55 ILLUMINA ss832648186 Jul 12, 2019 (153)
56 ILLUMINA ss834489926 Sep 08, 2015 (146)
57 JMKIDD_LAB ss974439956 Aug 21, 2014 (142)
58 EVA-GONL ss976210299 Aug 21, 2014 (142)
59 JMKIDD_LAB ss1067432459 Aug 21, 2014 (142)
60 JMKIDD_LAB ss1068651457 Aug 21, 2014 (142)
61 1000GENOMES ss1294897742 Aug 21, 2014 (142)
62 EVA_GENOME_DK ss1574720038 Apr 01, 2015 (144)
63 EVA_FINRISK ss1584015407 Apr 01, 2015 (144)
64 EVA_DECODE ss1585607981 Apr 01, 2015 (144)
65 EVA_UK10K_ALSPAC ss1602272272 Apr 01, 2015 (144)
66 EVA_UK10K_TWINSUK ss1645266305 Apr 01, 2015 (144)
67 EVA_EXAC ss1686078316 Apr 01, 2015 (144)
68 EVA_MGP ss1710945589 Apr 01, 2015 (144)
69 EVA_SVP ss1712410224 Apr 01, 2015 (144)
70 ILLUMINA ss1751902078 Sep 08, 2015 (146)
71 WEILL_CORNELL_DGM ss1919432503 Feb 12, 2016 (147)
72 ILLUMINA ss1946025056 Feb 12, 2016 (147)
73 ILLUMINA ss1958362378 Feb 12, 2016 (147)
74 JJLAB ss2020240650 Sep 14, 2016 (149)
75 USC_VALOUEV ss2148274732 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2170597880 Dec 20, 2016 (150)
77 TOPMED ss2333238139 Dec 20, 2016 (150)
78 ILLUMINA ss2632637185 Nov 08, 2017 (151)
79 ILLUMINA ss2632637186 Nov 08, 2017 (151)
80 ILLUMINA ss2635007897 Nov 08, 2017 (151)
81 GRF ss2698272543 Nov 08, 2017 (151)
82 ILLUMINA ss2710696048 Nov 08, 2017 (151)
83 GNOMAD ss2732312994 Nov 08, 2017 (151)
84 GNOMAD ss2746573395 Nov 08, 2017 (151)
85 GNOMAD ss2766921278 Nov 08, 2017 (151)
86 AFFY ss2984895991 Nov 08, 2017 (151)
87 AFFY ss2985539976 Nov 08, 2017 (151)
88 SWEGEN ss2988553464 Nov 08, 2017 (151)
89 ILLUMINA ss3021186119 Nov 08, 2017 (151)
90 BIOINF_KMB_FNS_UNIBA ss3023880804 Nov 08, 2017 (151)
91 TOPMED ss3105011741 Nov 08, 2017 (151)
92 CSHL ss3343941644 Nov 08, 2017 (151)
93 ILLUMINA ss3625565005 Oct 11, 2018 (152)
94 ILLUMINA ss3626322601 Oct 11, 2018 (152)
95 ILLUMINA ss3630666644 Oct 11, 2018 (152)
96 ILLUMINA ss3632927777 Oct 11, 2018 (152)
97 ILLUMINA ss3633623905 Oct 11, 2018 (152)
98 ILLUMINA ss3634375964 Oct 11, 2018 (152)
99 ILLUMINA ss3635316960 Oct 11, 2018 (152)
100 ILLUMINA ss3636054863 Oct 11, 2018 (152)
101 ILLUMINA ss3636054864 Oct 11, 2018 (152)
102 ILLUMINA ss3637067508 Oct 11, 2018 (152)
103 ILLUMINA ss3637817707 Oct 11, 2018 (152)
104 ILLUMINA ss3637817708 Oct 11, 2018 (152)
105 ILLUMINA ss3638924003 Oct 11, 2018 (152)
106 ILLUMINA ss3639460923 Oct 11, 2018 (152)
107 ILLUMINA ss3640083317 Oct 11, 2018 (152)
108 ILLUMINA ss3640993449 Oct 11, 2018 (152)
109 ILLUMINA ss3641287585 Oct 11, 2018 (152)
110 ILLUMINA ss3642823812 Oct 11, 2018 (152)
111 ILLUMINA ss3644521057 Oct 11, 2018 (152)
112 OMUKHERJEE_ADBS ss3646254167 Oct 11, 2018 (152)
113 ILLUMINA ss3651531618 Oct 11, 2018 (152)
114 ILLUMINA ss3653666000 Oct 11, 2018 (152)
115 EGCUT_WGS ss3656512573 Jul 12, 2019 (153)
116 EVA_DECODE ss3688751223 Jul 12, 2019 (153)
117 ILLUMINA ss3725111055 Jul 12, 2019 (153)
118 ACPOP ss3727917198 Jul 12, 2019 (153)
119 ILLUMINA ss3744061673 Jul 12, 2019 (153)
120 ILLUMINA ss3744676817 Jul 12, 2019 (153)
121 EVA ss3747413074 Jul 12, 2019 (153)
122 PAGE_CC ss3770876134 Jul 12, 2019 (153)
123 ILLUMINA ss3772177713 Jul 12, 2019 (153)
124 KHV_HUMAN_GENOMES ss3800416212 Jul 12, 2019 (153)
125 EVA ss3823720842 Apr 25, 2020 (154)
126 EVA ss3825589286 Apr 25, 2020 (154)
127 EVA ss3826676371 Apr 25, 2020 (154)
128 EVA ss3836740220 Apr 25, 2020 (154)
129 EVA ss3842152466 Apr 25, 2020 (154)
130 HGDP ss3847365496 Apr 25, 2020 (154)
131 SGDP_PRJ ss3851027448 Apr 25, 2020 (154)
132 KRGDB ss3896361968 Apr 25, 2020 (154)
133 KOGIC ss3946617979 Apr 25, 2020 (154)
134 FSA-LAB ss3983964915 Apr 25, 2021 (155)
135 EVA ss3984447337 Apr 25, 2021 (155)
136 EVA ss3984473004 Apr 25, 2021 (155)
137 EVA ss3984855881 Apr 25, 2021 (155)
138 EVA ss3986015730 Apr 25, 2021 (155)
139 EVA ss3986161146 Apr 25, 2021 (155)
140 EVA ss4016965594 Apr 25, 2021 (155)
141 TOPMED ss4485762493 Apr 25, 2021 (155)
142 TOMMO_GENOMICS ss5148716376 Apr 25, 2021 (155)
143 EVA ss5236879208 Apr 25, 2021 (155)
144 EVA ss5237282960 Apr 25, 2021 (155)
145 1000Genomes NC_000001.10 - 226032229 Oct 11, 2018 (152)
146 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 226032229 Oct 11, 2018 (152)
147 Chileans NC_000001.10 - 226032229 Apr 25, 2020 (154)
148 Genetic variation in the Estonian population NC_000001.10 - 226032229 Oct 11, 2018 (152)
149 ExAC NC_000001.10 - 226032229 Oct 11, 2018 (152)
150 FINRISK NC_000001.10 - 226032229 Apr 25, 2020 (154)
151 The Danish reference pan genome NC_000001.10 - 226032229 Apr 25, 2020 (154)
152 gnomAD - Genomes NC_000001.11 - 225844528 Apr 25, 2021 (155)
153 gnomAD - Exomes NC_000001.10 - 226032229 Jul 12, 2019 (153)
154 GO Exome Sequencing Project NC_000001.10 - 226032229 Oct 11, 2018 (152)
155 Genome of the Netherlands Release 5 NC_000001.10 - 226032229 Apr 25, 2020 (154)
156 HGDP-CEPH-db Supplement 1 NC_000001.9 - 224098852 Apr 25, 2020 (154)
157 HapMap NC_000001.11 - 225844528 Apr 25, 2020 (154)
158 KOREAN population from KRGDB NC_000001.10 - 226032229 Apr 25, 2020 (154)
159 Korean Genome Project NC_000001.11 - 225844528 Apr 25, 2020 (154)
160 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 226032229 Apr 25, 2020 (154)
161 Northern Sweden NC_000001.10 - 226032229 Jul 12, 2019 (153)
162 The PAGE Study NC_000001.11 - 225844528 Jul 12, 2019 (153)
163 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 226032229 Apr 25, 2021 (155)
164 CNV burdens in cranial meningiomas NC_000001.10 - 226032229 Apr 25, 2021 (155)
165 MxGDAR/Encodat-PGx NC_000001.10 - 226032229 Apr 25, 2021 (155)
166 PharmGKB Aggregated NC_000001.11 - 225844528 Apr 25, 2020 (154)
167 Qatari NC_000001.10 - 226032229 Apr 25, 2020 (154)
168 SGDP_PRJ NC_000001.10 - 226032229 Apr 25, 2020 (154)
169 Siberian NC_000001.10 - 226032229 Apr 25, 2020 (154)
170 8.3KJPN NC_000001.10 - 226032229 Apr 25, 2021 (155)
171 TopMed NC_000001.11 - 225844528 Apr 25, 2021 (155)
172 UK 10K study - Twins NC_000001.10 - 226032229 Oct 11, 2018 (152)
173 A Vietnamese Genetic Variation Database NC_000001.10 - 226032229 Jul 12, 2019 (153)
174 ALFA NC_000001.11 - 225844528 Apr 25, 2021 (155)
Help

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)
rs2292569 Mar 26, 2002 (103)
rs3192122 Jul 03, 2002 (106)
rs56555531 May 25, 2008 (130)
rs60193447 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3638924003, ss3639460923 NC_000001.8:222338963:C:T NC_000001.11:225844527:C:T (self)
43388, ss76590830, ss108997131, ss210754310, ss253865951, ss276242857, ss479313012, ss491616222, ss825345113, ss1585607981, ss1712410224, ss2635007897, ss3642823812, ss3847365496 NC_000001.9:224098851:C:T NC_000001.11:225844527:C:T (self)
5761219, 3184245, 34684, 2250821, 5316726, 11868, 1911952, 1349735, 179352, 1391897, 3539362, 62341, 1202063, 81808, 22325, 338, 1474433, 3044428, 791086, 6685683, 3184245, 691742, ss218914716, ss230927783, ss238535599, ss342032986, ss479154457, ss479316119, ss479700450, ss484456816, ss489794401, ss536622132, ss555176992, ss648748217, ss779027260, ss782674963, ss783643629, ss831925679, ss832615442, ss832648186, ss834489926, ss974439956, ss976210299, ss1067432459, ss1068651457, ss1294897742, ss1574720038, ss1584015407, ss1602272272, ss1645266305, ss1686078316, ss1710945589, ss1751902078, ss1919432503, ss1946025056, ss1958362378, ss2020240650, ss2148274732, ss2333238139, ss2632637185, ss2632637186, ss2698272543, ss2710696048, ss2732312994, ss2746573395, ss2766921278, ss2984895991, ss2985539976, ss2988553464, ss3021186119, ss3343941644, ss3625565005, ss3626322601, ss3630666644, ss3632927777, ss3633623905, ss3634375964, ss3635316960, ss3636054863, ss3636054864, ss3637067508, ss3637817707, ss3637817708, ss3640083317, ss3640993449, ss3641287585, ss3644521057, ss3646254167, ss3651531618, ss3653666000, ss3656512573, ss3727917198, ss3744061673, ss3744676817, ss3747413074, ss3772177713, ss3823720842, ss3825589286, ss3826676371, ss3836740220, ss3851027448, ss3896361968, ss3983964915, ss3984447337, ss3984473004, ss3984855881, ss3986015730, ss3986161146, ss4016965594, ss5148716376, ss5237282960 NC_000001.10:226032228:C:T NC_000001.11:225844527:C:T (self)
41372646, 281662, 2995980, 97603, 834, 31024345, 49368828, 6829990072, ss2170597880, ss3023880804, ss3105011741, ss3688751223, ss3725111055, ss3770876134, ss3800416212, ss3842152466, ss3946617979, ss4485762493, ss5236879208 NC_000001.11:225844527:C:T NC_000001.11:225844527:C:T (self)
ss76891177 NT_004559.13:2234382:C:T NC_000001.11:225844527:C:T (self)
ss3235285, ss5603698, ss48294077, ss48426828, ss66731017, ss66894683, ss67002592, ss70375502, ss70458011, ss70490713, ss71015243, ss75735715, ss76860327, ss83674195, ss84156404, ss121363717, ss152536480, ss152786644, ss156361237, ss159102646, ss159135520, ss159700693, ss159846006, ss159908644, ss168871094, ss169545959, ss170343874, ss244269562 NT_167186.1:19550007:C:T NC_000001.11:225844527:C:T (self)
Help

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

13 citations for rs1051741
PMID Title Author Year Journal
15817713 Attempted replication of reported chronic obstructive pulmonary disease candidate gene associations. Hersh CP et al. 2005 American journal of respiratory cell and molecular biology
16456143 Genetic association analysis of functional impairment in chronic obstructive pulmonary disease. Hersh CP et al. 2006 American journal of respiratory and critical care medicine
17363767 Genetic determinants of emphysema distribution in the national emphysema treatment trial. DeMeo DL et al. 2007 American journal of respiratory and critical care medicine
17686149 Xenobiotic metabolizing enzyme gene polymorphisms predict response to lung volume reduction surgery. Hersh CP et al. 2007 Respiratory research
18632753 Bladder cancer risk and genetic variation in AKR1C3 and other metabolizing genes. Figueroa JD et al. 2008 Carcinogenesis
19017876 Genetic associations with hypoxemia and pulmonary arterial pressure in COPD. Castaldi PJ et al. 2009 Chest
19479063 Phase I metabolic genes and risk of lung cancer: multiple polymorphisms and mRNA expression. Rotunno M et al. 2009 PloS one
20716240 New genetic variant that might improve warfarin dose prediction in African Americans. Schelleman H et al. 2010 British journal of clinical pharmacology
22610343 Genetic variants in antioxidant genes are associated with diisocyanate-induced asthma. Yucesoy B et al. 2012 Toxicological sciences
22676711 Pharmacogenomics of warfarin in populations of African descent. Suarez-Kurtz G et al. 2013 British journal of clinical pharmacology
23527081 A large scale gene-centric association study of lung function in newly-hired female cotton textile workers with endotoxin exposure. Zhang R et al. 2013 PloS one
25733797 An Improved Version of Logistic Bayesian LASSO for Detecting Rare Haplotype-Environment Interactions with Application to Lung Cancer. Zhang Y et al. 2015 Cancer informatics
27193053 Exploring the interaction among EPHX1, GSTP1, SERPINE2, and TGFB1 contributing to the quantitative traits of chronic obstructive pulmonary disease in Chinese Han population. An L et al. 2016 Human genomics
Help

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.

Software version is: 2.0.1.post596+ae089ad