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dbSNP Short Genetic Variations

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.

rs1426654

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr15:48134287 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.22996 (57776/251246, GnomAD_exome)
G=0.22826 (27693/121320, ExAC)
A=0.3709 (29190/78700, PAGE_STUDY) (+ 7 more)
G=0.2911 (9130/31364, GnomAD)
A=0.438 (2192/5008, 1000G)
G=0.006 (29/4480, Estonian)
G=0.005 (20/3854, ALSPAC)
G=0.002 (8/3708, TWINSUK)
A=0.01 (9/612, Vietnamese)
G=0.01 (6/600, NorthernSweden)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC24A5 : Missense Variant
MYEF2 : 500B Downstream Variant
Publications
51 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.p12 chr 15 NC_000015.10:g.48134287A>G
GRCh38.p12 chr 15 NC_000015.10:g.48134287A>T
GRCh37.p13 chr 15 NC_000015.9:g.48426484A>G
GRCh37.p13 chr 15 NC_000015.9:g.48426484A>T
SLC24A5 RefSeqGene NG_011500.1:g.18316A>G
SLC24A5 RefSeqGene NG_011500.1:g.18316A>T
Gene: MYEF2, myelin expression factor 2 (minus strand) : 500B Downstream Variant
Molecule type Change Amino acid[Codon] SO Term
MYEF2 transcript variant 2 NM_001301210.2:c. N/A Downstream Transcript Variant
MYEF2 transcript variant 1 NM_016132.5:c. N/A Downstream Transcript Variant
MYEF2 transcript variant 3 NR_125408.1:n. N/A N/A
MYEF2 transcript variant X3 XM_005254425.4:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X4 XM_017022285.1:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X5 XM_017022286.1:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X6 XM_017022287.1:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X13 XM_017022291.1:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X14 XM_017022292.1:c. N/A Downstream Transcript Variant
MYEF2 transcript variant X1 XM_005254422.4:c. N/A N/A
MYEF2 transcript variant X2 XM_005254424.4:c. N/A N/A
MYEF2 transcript variant X12 XM_005254427.4:c. N/A N/A
MYEF2 transcript variant X7 XM_006720553.3:c. N/A N/A
MYEF2 transcript variant X8 XM_011521657.2:c. N/A N/A
MYEF2 transcript variant X9 XM_017022288.1:c. N/A N/A
MYEF2 transcript variant X10 XM_017022289.1:c. N/A N/A
MYEF2 transcript variant X11 XM_017022290.1:c. N/A N/A
Gene: SLC24A5, solute carrier family 24 member 5 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC24A5 transcript NM_205850.3:c.331A>G T [ACA] > A [GCA] Coding Sequence Variant
sodium/potassium/calcium exchanger 5 precursor NP_995322.1:p.Thr111Ala T (Thr) > A (Ala) Missense Variant
SLC24A5 transcript NM_205850.3:c.331A>T T [ACA] > S [TCA] Coding Sequence Variant
sodium/potassium/calcium exchanger 5 precursor NP_995322.1:p.Thr111Ser T (Thr) > S (Ser) Missense Variant
SLC24A5 transcript variant X1 XM_017022079.1:c. N/A 5 Prime UTR Variant
SLC24A5 transcript variant X2 XM_017022080.1:c. N/A 5 Prime UTR Variant
SLC24A5 transcript variant X3 XM_024449901.1:c. N/A 5 Prime UTR 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.

Allele: A= (allele ID: 16526 )
ClinVar Accession Disease Names Clinical Significance
RCV000001552.4 Skin/hair/eye pigmentation, variation in, 4 Association
Allele: G (allele ID: 255247 )
ClinVar Accession Disease Names Clinical Significance
RCV000250857.1 not specified Benign
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
gnomAD - Exomes Global Study-wide 251246 A=0.77004 G=0.22996
gnomAD - Exomes European Sub 135254 A=0.99510 G=0.00490
gnomAD - Exomes Asian Sub 48990 A=0.4867 G=0.5133
gnomAD - Exomes American Sub 34554 A=0.4789 G=0.5211
gnomAD - Exomes African Sub 16240 A=0.1890 G=0.8110
gnomAD - Exomes Ashkenazi Jewish Sub 10076 A=0.9956 G=0.0044
gnomAD - Exomes Other Sub 6132 A=0.879 G=0.121
ExAC Global Study-wide 121320 A=0.77174 G=0.22826
ExAC Europe Sub 73314 A=0.9950 G=0.0050
ExAC Asian Sub 25158 A=0.5077 G=0.4923
ExAC American Sub 11538 A=0.4380 G=0.5620
ExAC African Sub 10402 A=0.1988 G=0.8012
ExAC Other Sub 908 A=0.86 G=0.14
The PAGE Study Global Study-wide 78700 A=0.3709 G=0.6291
The PAGE Study AfricanAmerican Sub 32516 A=0.2273 G=0.7727
The PAGE Study Mexican Sub 10810 A=0.5341 G=0.4659
The PAGE Study Asian Sub 8318 A=0.013 G=0.987
The PAGE Study PuertoRican Sub 7918 A=0.665 G=0.335
The PAGE Study NativeHawaiian Sub 4534 A=0.264 G=0.736
The PAGE Study Cuban Sub 4230 A=0.826 G=0.174
The PAGE Study Dominican Sub 3828 A=0.559 G=0.441
The PAGE Study CentralAmerican Sub 2450 A=0.477 G=0.523
The PAGE Study SouthAmerican Sub 1980 A=0.553 G=0.447
The PAGE Study NativeAmerican Sub 1260 A=0.698 G=0.302
The PAGE Study SouthAsian Sub 856 A=0.79 G=0.21
gnomAD - Genomes Global Study-wide 31364 A=0.7089 G=0.2911
gnomAD - Genomes European Sub 18896 A=0.9935 G=0.0065
gnomAD - Genomes African Sub 8690 A=0.195 G=0.805
gnomAD - Genomes East Asian Sub 1556 A=0.006 G=0.994
gnomAD - Genomes Other Sub 1086 A=0.900 G=0.100
gnomAD - Genomes American Sub 846 A=0.58 G=0.42
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=1.00 G=0.00
1000Genomes Global Study-wide 5008 A=0.438 G=0.562
1000Genomes African Sub 1322 A=0.074 G=0.926
1000Genomes East Asian Sub 1008 A=0.012 G=0.988
1000Genomes Europe Sub 1006 A=0.997 G=0.003
1000Genomes South Asian Sub 978 A=0.69 G=0.31
1000Genomes American Sub 694 A=0.59 G=0.41
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.994 G=0.006
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.995 G=0.005
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.998 G=0.002
A Vietnamese Genetic Variation Database Global Study-wide 612 A=0.01 G=0.99
Northern Sweden ACPOP Study-wide 600 A=0.99 G=0.01
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 A= G T Note
GRCh38.p12 chr 15 NC_000015.10:g.48...

NC_000015.10:g.48134287=

NC_000015.10:g.48...

NC_000015.10:g.48134287A>G

NC_000015.10:g.48...

NC_000015.10:g.48134287A>T

GRCh37.p13 chr 15 NC_000015.9:g.484...

NC_000015.9:g.48426484=

NC_000015.9:g.484...

NC_000015.9:g.48426484A>G

NC_000015.9:g.484...

NC_000015.9:g.48426484A>T

SLC24A5 RefSeqGene NG_011500.1:g.18316= NG_011500.1:g.183...

NG_011500.1:g.18316A>G

NG_011500.1:g.183...

NG_011500.1:g.18316A>T

SLC24A5 transcript NM_205850.3:c.331= NM_205850.3:c.331A>G NM_205850.3:c.331A>T
SLC24A5 transcript NM_205850.2:c.331= NM_205850.2:c.331A>G NM_205850.2:c.331A>T
SLC24A5 transcript variant X2 XM_017022080.1:c.-9= XM_017022080.1:c....

XM_017022080.1:c.-9A>G

XM_017022080.1:c....

XM_017022080.1:c.-9A>T

SLC24A5 transcript variant X3 XM_024449901.1:c.-9= XM_024449901.1:c....

XM_024449901.1:c.-9A>G

XM_024449901.1:c....

XM_024449901.1:c.-9A>T

SLC24A5 transcript variant X1 XM_017022079.1:c.-9= XM_017022079.1:c....

XM_017022079.1:c.-9A>G

XM_017022079.1:c....

XM_017022079.1:c.-9A>T

sodium/potassium/calcium exchanger 5 precursor NP_995322.1:p.Thr...

NP_995322.1:p.Thr111=

NP_995322.1:p.Thr...

NP_995322.1:p.Thr111Ala

NP_995322.1:p.Thr...

NP_995322.1:p.Thr111Ser

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#.

127 SubSNP, 10 Frequency, 2 ClinVar submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2233714 Oct 23, 2000 (88)
2 SC_JCM ss3462402 Sep 28, 2001 (100)
3 WI_SSAHASNP ss12321463 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss19327142 Feb 27, 2004 (120)
5 ABI ss43742806 Mar 14, 2006 (126)
6 ILLUMINA ss65725648 Oct 14, 2006 (127)
7 PERLEGEN ss69175592 May 17, 2007 (127)
8 PERLEGEN ss69356387 May 17, 2007 (127)
9 AFFY ss74806079 Aug 16, 2007 (128)
10 ILLUMINA ss74865056 Dec 06, 2007 (129)
11 HGSV ss80703511 Dec 14, 2007 (130)
12 HGSV ss83526066 Dec 14, 2007 (130)
13 HGSV ss85617502 Dec 14, 2007 (130)
14 BGI ss106427081 Feb 04, 2009 (130)
15 1000GENOMES ss114135170 Jan 25, 2009 (130)
16 ILLUMINA-UK ss118216307 Feb 14, 2009 (130)
17 KRIBB_YJKIM ss119392172 Dec 01, 2009 (131)
18 ILLUMINA ss153430106 Dec 01, 2009 (131)
19 GMI ss156507260 Dec 01, 2009 (131)
20 ILLUMINA ss159268497 Dec 01, 2009 (131)
21 SEATTLESEQ ss159730646 Dec 01, 2009 (131)
22 ILLUMINA ss160351692 Dec 01, 2009 (131)
23 ENSEMBL ss161717571 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss169373884 Jul 04, 2010 (132)
25 ILLUMINA ss172493002 Jul 04, 2010 (132)
26 BUSHMAN ss200810996 Jul 04, 2010 (132)
27 1000GENOMES ss226879145 Jul 14, 2010 (132)
28 1000GENOMES ss243156808 Jul 15, 2010 (132)
29 OMICIA ss244239384 May 27, 2010 (132)
30 OMIM-CURATED-RECORDS ss252841619 Aug 10, 2010 (132)
31 GMI ss282244690 May 04, 2012 (137)
32 PJP ss291715106 May 09, 2011 (134)
33 NHLBI-ESP ss342403033 May 09, 2011 (134)
34 ILLUMINA ss479969658 May 04, 2012 (137)
35 ILLUMINA ss479978177 May 04, 2012 (137)
36 ILLUMINA ss480624669 Sep 08, 2015 (146)
37 ILLUMINA ss483399039 May 04, 2012 (137)
38 ILLUMINA ss483811277 May 04, 2012 (137)
39 ILLUMINA ss484783062 May 04, 2012 (137)
40 1000GENOMES ss491082614 May 04, 2012 (137)
41 EXOME_CHIP ss491494238 May 04, 2012 (137)
42 CLINSEQ_SNP ss491700325 May 04, 2012 (137)
43 ILLUMINA ss536008829 Sep 08, 2015 (146)
44 TISHKOFF ss564465609 Apr 25, 2013 (138)
45 SSMP ss660185488 Apr 25, 2013 (138)
46 ILLUMINA ss780662471 Aug 21, 2014 (142)
47 ILLUMINA ss780708416 Sep 08, 2015 (146)
48 ILLUMINA ss782349211 Aug 21, 2014 (142)
49 ILLUMINA ss782838198 Aug 21, 2014 (142)
50 ILLUMINA ss783383123 Sep 08, 2015 (146)
51 ILLUMINA ss832091835 Apr 01, 2015 (144)
52 ILLUMINA ss832780686 Aug 21, 2014 (142)
53 ILLUMINA ss833371516 Aug 21, 2014 (142)
54 ILLUMINA ss836157994 Aug 21, 2014 (142)
55 JMKIDD_LAB ss974491187 Aug 21, 2014 (142)
56 JMKIDD_LAB ss1067552258 Aug 21, 2014 (142)
57 JMKIDD_LAB ss1080104198 Aug 21, 2014 (142)
58 1000GENOMES ss1353359076 Aug 21, 2014 (142)
59 HAMMER_LAB ss1397696331 Sep 08, 2015 (146)
60 DDI ss1427617465 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1577598398 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1632940740 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1675934773 Apr 01, 2015 (144)
64 EVA_EXAC ss1691816713 Apr 01, 2015 (144)
65 EVA_DECODE ss1695775524 Apr 01, 2015 (144)
66 EVA_MGP ss1711396744 Apr 01, 2015 (144)
67 EVA_SVP ss1713487778 Apr 01, 2015 (144)
68 ILLUMINA ss1752161861 Sep 08, 2015 (146)
69 ILLUMINA ss1752161862 Sep 08, 2015 (146)
70 HAMMER_LAB ss1808191813 Sep 08, 2015 (146)
71 ILLUMINA ss1917896187 Feb 12, 2016 (147)
72 WEILL_CORNELL_DGM ss1935163453 Feb 12, 2016 (147)
73 ILLUMINA ss1946393010 Feb 12, 2016 (147)
74 ILLUMINA ss1959610755 Feb 12, 2016 (147)
75 AMU ss1966652327 Feb 12, 2016 (147)
76 GENOMED ss1968099881 Jul 19, 2016 (147)
77 JJLAB ss2028360854 Sep 14, 2016 (149)
78 ILLUMINA ss2095058734 Dec 20, 2016 (150)
79 USC_VALOUEV ss2156761954 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2206557232 Dec 20, 2016 (150)
81 TOPMED ss2371231567 Dec 20, 2016 (150)
82 SYSTEMSBIOZJU ss2628674351 Nov 08, 2017 (151)
83 ILLUMINA ss2633225548 Nov 08, 2017 (151)
84 ILLUMINA ss2633225549 Nov 08, 2017 (151)
85 ILLUMINA ss2635057786 Nov 08, 2017 (151)
86 GRF ss2701230558 Nov 08, 2017 (151)
87 GNOMAD ss2741226933 Nov 08, 2017 (151)
88 GNOMAD ss2749299631 Nov 08, 2017 (151)
89 GNOMAD ss2934602423 Nov 08, 2017 (151)
90 AFFY ss2985040843 Nov 08, 2017 (151)
91 SWEGEN ss3013239916 Nov 08, 2017 (151)
92 ILLUMINA ss3021630707 Nov 08, 2017 (151)
93 TOPMED ss3226943894 Nov 08, 2017 (151)
94 ILLUMINA ss3625672860 Oct 12, 2018 (152)
95 ILLUMINA ss3627354859 Oct 12, 2018 (152)
96 ILLUMINA ss3627354860 Oct 12, 2018 (152)
97 ILLUMINA ss3631218832 Oct 12, 2018 (152)
98 ILLUMINA ss3633096461 Oct 12, 2018 (152)
99 ILLUMINA ss3633801037 Oct 12, 2018 (152)
100 ILLUMINA ss3634605426 Oct 12, 2018 (152)
101 ILLUMINA ss3634605427 Oct 12, 2018 (152)
102 ILLUMINA ss3635489974 Oct 12, 2018 (152)
103 ILLUMINA ss3636295334 Oct 12, 2018 (152)
104 ILLUMINA ss3637241240 Oct 12, 2018 (152)
105 ILLUMINA ss3638084024 Oct 12, 2018 (152)
106 ILLUMINA ss3640312747 Oct 12, 2018 (152)
107 ILLUMINA ss3640312748 Oct 12, 2018 (152)
108 ILLUMINA ss3641060096 Oct 12, 2018 (152)
109 ILLUMINA ss3641355454 Oct 12, 2018 (152)
110 ILLUMINA ss3643068334 Oct 12, 2018 (152)
111 ILLUMINA ss3644646112 Oct 12, 2018 (152)
112 OMUKHERJEE_ADBS ss3646474137 Oct 12, 2018 (152)
113 ILLUMINA ss3652031152 Oct 12, 2018 (152)
114 ILLUMINA ss3652031153 Oct 12, 2018 (152)
115 ILLUMINA ss3653812396 Oct 12, 2018 (152)
116 EGCUT_WGS ss3680380453 Jul 13, 2019 (153)
117 EVA_DECODE ss3697841057 Jul 13, 2019 (153)
118 ILLUMINA ss3725497402 Jul 13, 2019 (153)
119 ACPOP ss3740900446 Jul 13, 2019 (153)
120 ILLUMINA ss3744419943 Jul 13, 2019 (153)
121 ILLUMINA ss3744905961 Jul 13, 2019 (153)
122 ILLUMINA ss3744905962 Jul 13, 2019 (153)
123 EVA ss3753051978 Jul 13, 2019 (153)
124 PAGE_CC ss3771828387 Jul 13, 2019 (153)
125 ILLUMINA ss3772404617 Jul 13, 2019 (153)
126 ILLUMINA ss3772404618 Jul 13, 2019 (153)
127 KHV_HUMAN_GENOMES ss3818370557 Jul 13, 2019 (153)
128 1000Genomes NC_000015.9 - 48426484 Oct 12, 2018 (152)
129 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 48426484 Oct 12, 2018 (152)
130 Genetic variation in the Estonian population NC_000015.9 - 48426484 Oct 12, 2018 (152)
131 ExAC NC_000015.9 - 48426484 Oct 12, 2018 (152)
132 gnomAD - Genomes NC_000015.9 - 48426484 Jul 13, 2019 (153)
133 gnomAD - Exomes NC_000015.9 - 48426484 Jul 13, 2019 (153)
134 Northern Sweden NC_000015.9 - 48426484 Jul 13, 2019 (153)
135 The PAGE Study NC_000015.10 - 48134287 Jul 13, 2019 (153)
136 UK 10K study - Twins NC_000015.9 - 48426484 Oct 12, 2018 (152)
137 A Vietnamese Genetic Variation Database NC_000015.9 - 48426484 Jul 13, 2019 (153)
138 ClinVar RCV000001552.4 Oct 12, 2018 (152)
139 ClinVar RCV000250857.1 Oct 12, 2018 (152)
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)
rs52802038 Sep 21, 2007 (128)
rs58147390 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission ids Observation SPDI Canonical SPDI Source RSIDs
ss80703511, ss83526066, ss85617502, ss114135170, ss118216307, ss160351692, ss169373884, ss200810996, ss282244690, ss291715106, ss479969658, ss483399039, ss491700325, ss1397696331, ss1695775524, ss1713487778, ss2635057786, ss3643068334 NC_000015.8:46213775:A:G NC_000015.10:48134286:A:G (self)
66427133, 36873604, 26118701, 2189420, 181245345, 10492098, 14185311, 36873604, 8202797, ss226879145, ss243156808, ss342403033, ss479978177, ss480624669, ss483811277, ss484783062, ss491082614, ss491494238, ss536008829, ss564465609, ss660185488, ss780662471, ss780708416, ss782349211, ss782838198, ss783383123, ss832091835, ss832780686, ss833371516, ss836157994, ss974491187, ss1067552258, ss1080104198, ss1353359076, ss1427617465, ss1577598398, ss1632940740, ss1675934773, ss1691816713, ss1711396744, ss1752161861, ss1752161862, ss1808191813, ss1917896187, ss1935163453, ss1946393010, ss1959610755, ss1966652327, ss1968099881, ss2028360854, ss2095058734, ss2156761954, ss2371231567, ss2628674351, ss2633225548, ss2633225549, ss2701230558, ss2741226933, ss2749299631, ss2934602423, ss2985040843, ss3013239916, ss3021630707, ss3625672860, ss3627354859, ss3627354860, ss3631218832, ss3633096461, ss3633801037, ss3634605426, ss3634605427, ss3635489974, ss3636295334, ss3637241240, ss3638084024, ss3640312747, ss3640312748, ss3641060096, ss3641355454, ss3644646112, ss3646474137, ss3652031152, ss3652031153, ss3653812396, ss3680380453, ss3740900446, ss3744419943, ss3744905961, ss3744905962, ss3753051978, ss3772404617, ss3772404618 NC_000015.9:48426483:A:G NC_000015.10:48134286:A:G (self)
RCV000250857.1, 1049856, ss244239384, ss252841619, ss2206557232, ss3226943894, ss3697841057, ss3725497402, ss3771828387, ss3818370557 NC_000015.10:48134286:A:G NC_000015.10:48134286:A:G (self)
ss12321463 NT_010194.15:19216094:A:G NC_000015.10:48134286:A:G (self)
ss19327142 NT_010194.16:19217040:A:G NC_000015.10:48134286:A:G (self)
ss2233714, ss3462402, ss43742806, ss65725648, ss69175592, ss69356387, ss74806079, ss74865056, ss106427081, ss119392172, ss153430106, ss156507260, ss159268497, ss159730646, ss161717571, ss172493002 NT_010194.17:19217040:A:G NC_000015.10:48134286:A:G (self)
ss2206557232 NC_000015.10:48134286:A:T NC_000015.10:48134286:A:T (self)
Help

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

51 citations for rs1426654
PMID Title Author Year Journal
16255080 A haplotype map of the human genome. International HapMap Consortium. et al. 2005 Nature
16357253 SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans. Lamason RL et al. 2005 Science (New York, N.Y.)
17557415 A genomewide single-nucleotide-polymorphism panel for Mexican American admixture mapping. Tian C et al. 2007 American journal of human genetics
17999355 A genomewide association study of skin pigmentation in a South Asian population. Stokowski RP et al. 2007 American journal of human genetics
18248681 Prevalence of common disease-associated variants in Asian Indians. Pemberton TJ et al. 2008 BMC genetics
18282109 Adaptations to climate in candidate genes for common metabolic disorders. Hancock AM et al. 2008 PLoS genetics
18637132 A study of a single variant allele (rs1426654) of the pigmentation-related gene SLC24A5 in Greek subjects. Dimisianos G et al. 2009 Experimental dermatology
19384953 Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Nan H et al. 2009 International journal of cancer
19440451 Haplotypes in SLC24A5 Gene as Ancestry Informative Markers in Different Populations. Giardina E et al. 2008 Current genomics
19503611 The role of geography in human adaptation. Coop G et al. 2009 PLoS genetics
19737746 Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation. Xue Y et al. 2009 Genetics
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Genomic regions, transcripts, and products
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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.post104+4a6ee9c