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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.

rs9536314

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr13:33054001 (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
T>A / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.146572 (47813/326208, ALFA)
G=0.147682 (39090/264690, TOPMED)
G=0.141185 (35479/251294, GnomAD_exome) (+ 22 more)
G=0.157806 (22102/140058, GnomAD)
G=0.143091 (17371/121398, ExAC)
G=0.12406 (9759/78666, PAGE_STUDY)
G=0.00006 (1/16760, 8.3KJPN)
G=0.17123 (2227/13006, GO-ESP)
G=0.1300 (651/5008, 1000G)
G=0.1551 (695/4480, Estonian)
G=0.0000 (0/2922, KOREAN)
G=0.1075 (224/2084, HGDP_Stanford)
G=0.0005 (1/1832, Korea1K)
G=0.1665 (259/1556, HapMap)
G=0.129 (129/998, GoNL)
G=0.005 (4/790, PRJEB37584)
G=0.112 (67/600, NorthernSweden)
G=0.116 (62/534, MGP)
G=0.181 (55/304, FINRISK)
G=0.185 (40/216, Qatari)
T=0.49 (48/98, SGDP_PRJ)
G=0.27 (12/44, Ancient Sardinia)
G=0.12 (5/40, GENOME_DK)
T=0.50 (8/16, Siberian)
G=0.50 (8/16, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
KL : Missense Variant
Publications
26 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 13 NC_000013.11:g.33054001T>A
GRCh38.p13 chr 13 NC_000013.11:g.33054001T>G
GRCh37.p13 chr 13 NC_000013.10:g.33628138T>A
GRCh37.p13 chr 13 NC_000013.10:g.33628138T>G
KL RefSeqGene NG_011485.1:g.42568T>A
KL RefSeqGene NG_011485.1:g.42568T>G
Gene: KL, klotho (plus strand)
Molecule type Change Amino acid[Codon] SO Term
KL transcript NM_004795.4:c.1054T>A F [TTT] > I [ATT] Coding Sequence Variant
klotho precursor NP_004786.2:p.Phe352Ile F (Phe) > I (Ile) Missense Variant
KL transcript NM_004795.4:c.1054T>G F [TTT] > V [GTT] Coding Sequence Variant
klotho precursor NP_004786.2:p.Phe352Val F (Phe) > V (Val) Missense Variant
KL transcript variant X1 XM_006719895.2:c.133T>A F [TTT] > I [ATT] Coding Sequence Variant
klotho isoform X1 XP_006719958.1:p.Phe45Ile F (Phe) > I (Ile) Missense Variant
KL transcript variant X1 XM_006719895.2:c.133T>G F [TTT] > V [GTT] Coding Sequence Variant
klotho isoform X1 XP_006719958.1:p.Phe45Val F (Phe) > V (Val) Missense 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: G (allele ID: 335965 )
ClinVar Accession Disease Names Clinical Significance
RCV000323675.2 Hyperphosphatemic familial tumoral calcinosis 3 Benign

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 326208 T=0.853428 A=0.000000, G=0.146572
European Sub 280672 T=0.849312 A=0.000000, G=0.150688
African Sub 10438 T=0.84633 A=0.00000, G=0.15367
African Others Sub 360 T=0.864 A=0.000, G=0.136
African American Sub 10078 T=0.84570 A=0.00000, G=0.15430
Asian Sub 6754 T=0.9981 A=0.0000, G=0.0019
East Asian Sub 4854 T=0.9986 A=0.0000, G=0.0014
Other Asian Sub 1900 T=0.9968 A=0.0000, G=0.0032
Latin American 1 Sub 1228 T=0.8673 A=0.0000, G=0.1327
Latin American 2 Sub 1750 T=0.9177 A=0.0000, G=0.0823
South Asian Sub 5150 T=0.8202 A=0.0000, G=0.1798
Other Sub 20216 T=0.86798 A=0.00000, G=0.13202


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
Allele Frequency Aggregator Total Global 326208 T=0.853428 A=0.000000, G=0.146572
Allele Frequency Aggregator European Sub 280672 T=0.849312 A=0.000000, G=0.150688
Allele Frequency Aggregator Other Sub 20216 T=0.86798 A=0.00000, G=0.13202
Allele Frequency Aggregator African Sub 10438 T=0.84633 A=0.00000, G=0.15367
Allele Frequency Aggregator Asian Sub 6754 T=0.9981 A=0.0000, G=0.0019
Allele Frequency Aggregator South Asian Sub 5150 T=0.8202 A=0.0000, G=0.1798
Allele Frequency Aggregator Latin American 2 Sub 1750 T=0.9177 A=0.0000, G=0.0823
Allele Frequency Aggregator Latin American 1 Sub 1228 T=0.8673 A=0.0000, G=0.1327
TopMed Global Study-wide 264690 T=0.852318 G=0.147682
gnomAD - Exomes Global Study-wide 251294 T=0.858815 G=0.141185
gnomAD - Exomes European Sub 135284 T=0.840269 G=0.159731
gnomAD - Exomes Asian Sub 48992 T=0.88970 G=0.11030
gnomAD - Exomes American Sub 34558 T=0.92653 G=0.07347
gnomAD - Exomes African Sub 16254 T=0.81863 G=0.18137
gnomAD - Exomes Ashkenazi Jewish Sub 10078 T=0.79391 G=0.20609
gnomAD - Exomes Other Sub 6128 T=0.8528 G=0.1472
gnomAD - Genomes Global Study-wide 140058 T=0.842194 G=0.157806
gnomAD - Genomes European Sub 75854 T=0.84119 G=0.15881
gnomAD - Genomes African Sub 41948 T=0.81856 G=0.18144
gnomAD - Genomes American Sub 13652 T=0.89694 G=0.10306
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.7843 G=0.2157
gnomAD - Genomes East Asian Sub 3128 T=0.9990 G=0.0010
gnomAD - Genomes Other Sub 2152 T=0.8522 G=0.1478
ExAC Global Study-wide 121398 T=0.856909 G=0.143091
ExAC Europe Sub 73352 T=0.84209 G=0.15791
ExAC Asian Sub 25156 T=0.88337 G=0.11663
ExAC American Sub 11578 T=0.93004 G=0.06996
ExAC African Sub 10404 T=0.81747 G=0.18253
ExAC Other Sub 908 T=0.840 G=0.160
The PAGE Study Global Study-wide 78666 T=0.87594 G=0.12406
The PAGE Study AfricanAmerican Sub 32494 T=0.81895 G=0.18105
The PAGE Study Mexican Sub 10808 T=0.92071 G=0.07929
The PAGE Study Asian Sub 8316 T=0.9982 G=0.0018
The PAGE Study PuertoRican Sub 7914 T=0.8829 G=0.1171
The PAGE Study NativeHawaiian Sub 4534 T=0.9537 G=0.0463
The PAGE Study Cuban Sub 4228 T=0.8609 G=0.1391
The PAGE Study Dominican Sub 3824 T=0.8413 G=0.1587
The PAGE Study CentralAmerican Sub 2450 T=0.9086 G=0.0914
The PAGE Study SouthAmerican Sub 1982 T=0.9102 G=0.0898
The PAGE Study NativeAmerican Sub 1260 T=0.8746 G=0.1254
The PAGE Study SouthAsian Sub 856 T=0.869 G=0.131
8.3KJPN JAPANESE Study-wide 16760 T=0.99994 G=0.00006
GO Exome Sequencing Project Global Study-wide 13006 T=0.82877 G=0.17123
GO Exome Sequencing Project European American Sub 8600 T=0.8359 G=0.1641
GO Exome Sequencing Project African American Sub 4406 T=0.8148 G=0.1852
1000Genomes Global Study-wide 5008 T=0.8700 G=0.1300
1000Genomes African Sub 1322 T=0.7995 G=0.2005
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=0.8062 G=0.1938
1000Genomes South Asian Sub 978 T=0.863 G=0.137
1000Genomes American Sub 694 T=0.918 G=0.082
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8449 G=0.1551
KOREAN population from KRGDB KOREAN Study-wide 2922 T=1.0000 G=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.8925 G=0.1075
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.996 G=0.004
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.792 G=0.208
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.849 G=0.151
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.859 G=0.141
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.851 G=0.149
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.991 G=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=1.00 G=0.00
Korean Genome Project KOREAN Study-wide 1832 T=0.9995 G=0.0005
HapMap Global Study-wide 1556 T=0.8335 G=0.1665
HapMap African Sub 690 T=0.807 G=0.193
HapMap American Sub 600 T=0.837 G=0.163
HapMap Europe Sub 176 T=0.841 G=0.159
HapMap Asian Sub 90 T=1.00 G=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.871 G=0.129
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.995 G=0.005
CNV burdens in cranial meningiomas CRM Sub 790 T=0.995 G=0.005
Northern Sweden ACPOP Study-wide 600 T=0.888 G=0.112
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.884 G=0.116
FINRISK Finnish from FINRISK project Study-wide 304 T=0.819 G=0.181
Qatari Global Study-wide 216 T=0.815 G=0.185
SGDP_PRJ Global Study-wide 98 T=0.49 G=0.51
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 44 T=0.73 G=0.27
The Danish reference pan genome Danish Study-wide 40 T=0.88 G=0.12
Siberian Global Study-wide 16 T=0.50 G=0.50
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 T= A G
GRCh38.p13 chr 13 NC_000013.11:g.33054001= NC_000013.11:g.33054001T>A NC_000013.11:g.33054001T>G
GRCh37.p13 chr 13 NC_000013.10:g.33628138= NC_000013.10:g.33628138T>A NC_000013.10:g.33628138T>G
KL RefSeqGene NG_011485.1:g.42568= NG_011485.1:g.42568T>A NG_011485.1:g.42568T>G
KL transcript NM_004795.4:c.1054= NM_004795.4:c.1054T>A NM_004795.4:c.1054T>G
KL transcript NM_004795.3:c.1054= NM_004795.3:c.1054T>A NM_004795.3:c.1054T>G
KL transcript variant 2 NM_153683.2:c.1054= NM_153683.2:c.1054T>A NM_153683.2:c.1054T>G
KL transcript variant X1 XM_006719895.2:c.133= XM_006719895.2:c.133T>A XM_006719895.2:c.133T>G
KL transcript variant 2 NM_153683.1:c.1054= NM_153683.1:c.1054T>A NM_153683.1:c.1054T>G
klotho precursor NP_004786.2:p.Phe352= NP_004786.2:p.Phe352Ile NP_004786.2:p.Phe352Val
klotho isoform X1 XP_006719958.1:p.Phe45= XP_006719958.1:p.Phe45Ile XP_006719958.1:p.Phe45Val
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#.

135 SubSNP, 28 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss13222672 Dec 05, 2003 (119)
2 SC_SNP ss15942873 Feb 27, 2004 (120)
3 PERLEGEN ss23516134 Sep 20, 2004 (123)
4 ABI ss40321689 Mar 14, 2006 (126)
5 SI_EXO ss52083689 Oct 16, 2006 (127)
6 ILLUMINA ss65730118 Oct 16, 2006 (127)
7 ILLUMINA ss66598489 Dec 01, 2006 (127)
8 ILLUMINA ss67928047 Dec 01, 2006 (127)
9 ILLUMINA ss68049206 Dec 01, 2006 (127)
10 PERLEGEN ss69130672 May 18, 2007 (127)
11 ILLUMINA ss71613869 May 18, 2007 (127)
12 AFFY ss74811304 Aug 16, 2007 (128)
13 ILLUMINA ss74930851 Dec 07, 2007 (129)
14 ILLUMINA ss79299245 Dec 14, 2007 (130)
15 KRIBB_YJKIM ss84832247 Dec 14, 2007 (130)
16 CORNELL ss86270298 Mar 23, 2008 (129)
17 HUMANGENOME_JCVI ss97148525 Feb 04, 2009 (130)
18 ILLUMINA ss98269586 May 24, 2008 (130)
19 1000GENOMES ss112676450 Jan 25, 2009 (130)
20 1000GENOMES ss114516210 Jan 25, 2009 (130)
21 ILLUMINA ss123009083 Dec 01, 2009 (131)
22 ENSEMBL ss144251544 Dec 01, 2009 (131)
23 ILLUMINA ss154499532 Dec 01, 2009 (131)
24 ILLUMINA ss159673384 Dec 01, 2009 (131)
25 SEATTLESEQ ss159728047 Dec 01, 2009 (131)
26 ILLUMINA ss160996619 Dec 01, 2009 (131)
27 COMPLETE_GENOMICS ss169171980 Jul 04, 2010 (132)
28 ILLUMINA ss172477305 Jul 04, 2010 (132)
29 ILLUMINA ss174861918 Jul 04, 2010 (132)
30 BUSHMAN ss199056711 Jul 04, 2010 (132)
31 1000GENOMES ss226118543 Jul 14, 2010 (132)
32 1000GENOMES ss236204067 Jul 15, 2010 (132)
33 ILLUMINA ss244314943 Jul 04, 2010 (132)
34 PJP ss291572649 May 09, 2011 (134)
35 NHLBI-ESP ss342374736 May 09, 2011 (134)
36 ILLUMINA ss481960231 May 04, 2012 (137)
37 ILLUMINA ss482918174 Sep 08, 2015 (146)
38 1000GENOMES ss491058355 May 04, 2012 (137)
39 EXOME_CHIP ss491478007 May 04, 2012 (137)
40 CLINSEQ_SNP ss491678399 May 04, 2012 (137)
41 ILLUMINA ss534898808 Sep 08, 2015 (146)
42 TISHKOFF ss563593245 Apr 25, 2013 (138)
43 SSMP ss659189722 Apr 25, 2013 (138)
44 ILLUMINA ss780695946 Aug 21, 2014 (142)
45 ILLUMINA ss783369938 Aug 21, 2014 (142)
46 ILLUMINA ss825629763 Apr 01, 2015 (144)
47 ILLUMINA ss832586126 Apr 01, 2015 (144)
48 ILLUMINA ss833184107 Aug 21, 2014 (142)
49 ILLUMINA ss833774935 Aug 21, 2014 (142)
50 JMKIDD_LAB ss974486503 Aug 21, 2014 (142)
51 EVA-GONL ss990263526 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1067540764 Aug 21, 2014 (142)
53 JMKIDD_LAB ss1078989733 Aug 21, 2014 (142)
54 1000GENOMES ss1347748495 Aug 21, 2014 (142)
55 EVA_GENOME_DK ss1576716103 Apr 01, 2015 (144)
56 EVA_FINRISK ss1584086544 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1630027711 Apr 01, 2015 (144)
58 EVA_UK10K_ALSPAC ss1630027712 Apr 01, 2015 (144)
59 EVA_DECODE ss1642367924 Apr 01, 2015 (144)
60 EVA_UK10K_TWINSUK ss1673021744 Apr 01, 2015 (144)
61 EVA_UK10K_TWINSUK ss1673021745 Apr 01, 2015 (144)
62 EVA_EXAC ss1691254668 Apr 01, 2015 (144)
63 EVA_MGP ss1711354471 Apr 01, 2015 (144)
64 EVA_SVP ss1713381380 Apr 01, 2015 (144)
65 ILLUMINA ss1752101243 Sep 08, 2015 (146)
66 ILLUMINA ss1752101244 Sep 08, 2015 (146)
67 HAMMER_LAB ss1807557215 Sep 08, 2015 (146)
68 ILLUMINA ss1917882502 Feb 12, 2016 (147)
69 WEILL_CORNELL_DGM ss1933632388 Feb 12, 2016 (147)
70 ILLUMINA ss1946358216 Feb 12, 2016 (147)
71 ILLUMINA ss1959492617 Feb 12, 2016 (147)
72 JJLAB ss2027573479 Sep 14, 2016 (149)
73 USC_VALOUEV ss2155937898 Dec 20, 2016 (150)
74 HUMAN_LONGEVITY ss2195366151 Dec 20, 2016 (150)
75 TOPMED ss2359469193 Dec 20, 2016 (150)
76 ILLUMINA ss2633048546 Nov 08, 2017 (151)
77 ILLUMINA ss2635044300 Nov 08, 2017 (151)
78 GNOMAD ss2740358906 Nov 08, 2017 (151)
79 GNOMAD ss2749031101 Nov 08, 2017 (151)
80 GNOMAD ss2918303330 Nov 08, 2017 (151)
81 AFFY ss2985001006 Nov 08, 2017 (151)
82 SWEGEN ss3010826779 Nov 08, 2017 (151)
83 ILLUMINA ss3021497977 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3027602695 Nov 08, 2017 (151)
85 TOPMED ss3189603972 Nov 08, 2017 (151)
86 CSHL ss3350398066 Nov 08, 2017 (151)
87 ILLUMINA ss3627037786 Oct 12, 2018 (152)
88 ILLUMINA ss3627037787 Oct 12, 2018 (152)
89 ILLUMINA ss3633045577 Oct 12, 2018 (152)
90 ILLUMINA ss3633747747 Oct 12, 2018 (152)
91 ILLUMINA ss3634539219 Oct 12, 2018 (152)
92 ILLUMINA ss3634539220 Oct 12, 2018 (152)
93 ILLUMINA ss3635437939 Oct 12, 2018 (152)
94 ILLUMINA ss3636225757 Oct 12, 2018 (152)
95 ILLUMINA ss3637188999 Oct 12, 2018 (152)
96 ILLUMINA ss3638004327 Oct 12, 2018 (152)
97 ILLUMINA ss3639015057 Oct 12, 2018 (152)
98 ILLUMINA ss3639510823 Oct 12, 2018 (152)
99 ILLUMINA ss3640246550 Oct 12, 2018 (152)
100 ILLUMINA ss3640246551 Oct 12, 2018 (152)
101 ILLUMINA ss3642994620 Oct 12, 2018 (152)
102 ILLUMINA ss3644611245 Oct 12, 2018 (152)
103 OMUKHERJEE_ADBS ss3646452540 Oct 12, 2018 (152)
104 URBANLAB ss3650005114 Oct 12, 2018 (152)
105 ILLUMINA ss3651883527 Oct 12, 2018 (152)
106 ILLUMINA ss3653771542 Oct 12, 2018 (152)
107 EGCUT_WGS ss3678088543 Jul 13, 2019 (153)
108 EVA_DECODE ss3695055946 Jul 13, 2019 (153)
109 ILLUMINA ss3725384758 Jul 13, 2019 (153)
110 ACPOP ss3739641250 Jul 13, 2019 (153)
111 ILLUMINA ss3744404965 Jul 13, 2019 (153)
112 ILLUMINA ss3744839933 Jul 13, 2019 (153)
113 ILLUMINA ss3744839934 Jul 13, 2019 (153)
114 EVA ss3751316669 Jul 13, 2019 (153)
115 PAGE_CC ss3771739198 Jul 13, 2019 (153)
116 ILLUMINA ss3772339023 Jul 13, 2019 (153)
117 ILLUMINA ss3772339024 Jul 13, 2019 (153)
118 KHV_HUMAN_GENOMES ss3816647171 Jul 13, 2019 (153)
119 EVA ss3824802365 Apr 27, 2020 (154)
120 EVA ss3825835302 Apr 27, 2020 (154)
121 EVA ss3833484309 Apr 27, 2020 (154)
122 EVA ss3840320392 Apr 27, 2020 (154)
123 EVA ss3845805371 Apr 27, 2020 (154)
124 HGDP ss3847474426 Apr 27, 2020 (154)
125 SGDP_PRJ ss3879727399 Apr 27, 2020 (154)
126 KRGDB ss3928556216 Apr 27, 2020 (154)
127 KOGIC ss3973331507 Apr 27, 2020 (154)
128 FSA-LAB ss3984045114 Apr 26, 2021 (155)
129 EVA ss3984678380 Apr 26, 2021 (155)
130 EVA ss3985633276 Apr 26, 2021 (155)
131 EVA ss3986599005 Apr 26, 2021 (155)
132 TOPMED ss4942109896 Apr 26, 2021 (155)
133 TOMMO_GENOMICS ss5209460246 Apr 26, 2021 (155)
134 EVA ss5236912307 Apr 26, 2021 (155)
135 EVA ss5237524388 Apr 26, 2021 (155)
136 1000Genomes NC_000013.10 - 33628138 Oct 12, 2018 (152)
137 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33661475 (NC_000013.10:33628137:T:T 3204/3854, NC_000013.10:33628137:T:G 650/3854)
Row 33661476 (NC_000013.10:33628137:T:T 3853/3854, NC_000013.10:33628137:T:A 1/3854)

- Oct 12, 2018 (152)
138 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 33661475 (NC_000013.10:33628137:T:T 3204/3854, NC_000013.10:33628137:T:G 650/3854)
Row 33661476 (NC_000013.10:33628137:T:T 3853/3854, NC_000013.10:33628137:T:A 1/3854)

- Oct 12, 2018 (152)
139 Genetic variation in the Estonian population NC_000013.10 - 33628138 Oct 12, 2018 (152)
140 ExAC NC_000013.10 - 33628138 Oct 12, 2018 (152)
141 FINRISK NC_000013.10 - 33628138 Apr 27, 2020 (154)
142 The Danish reference pan genome NC_000013.10 - 33628138 Apr 27, 2020 (154)
143 gnomAD - Genomes NC_000013.11 - 33054001 Apr 26, 2021 (155)
144 gnomAD - Exomes NC_000013.10 - 33628138 Jul 13, 2019 (153)
145 GO Exome Sequencing Project NC_000013.10 - 33628138 Oct 12, 2018 (152)
146 Genome of the Netherlands Release 5 NC_000013.10 - 33628138 Apr 27, 2020 (154)
147 HGDP-CEPH-db Supplement 1 NC_000013.9 - 32526138 Apr 27, 2020 (154)
148 HapMap NC_000013.11 - 33054001 Apr 27, 2020 (154)
149 KOREAN population from KRGDB NC_000013.10 - 33628138 Apr 27, 2020 (154)
150 Korean Genome Project NC_000013.11 - 33054001 Apr 27, 2020 (154)
151 Medical Genome Project healthy controls from Spanish population NC_000013.10 - 33628138 Apr 27, 2020 (154)
152 Northern Sweden NC_000013.10 - 33628138 Jul 13, 2019 (153)
153 The PAGE Study NC_000013.11 - 33054001 Jul 13, 2019 (153)
154 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000013.10 - 33628138 Apr 26, 2021 (155)
155 CNV burdens in cranial meningiomas NC_000013.10 - 33628138 Apr 26, 2021 (155)
156 Qatari NC_000013.10 - 33628138 Apr 27, 2020 (154)
157 SGDP_PRJ NC_000013.10 - 33628138 Apr 27, 2020 (154)
158 Siberian NC_000013.10 - 33628138 Apr 27, 2020 (154)
159 8.3KJPN NC_000013.10 - 33628138 Apr 26, 2021 (155)
160 TopMed NC_000013.11 - 33054001 Apr 26, 2021 (155)
161 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33661475 (NC_000013.10:33628137:T:T 3111/3708, NC_000013.10:33628137:T:G 597/3708)
Row 33661476 (NC_000013.10:33628137:T:T 3708/3708, NC_000013.10:33628137:T:A 0/3708)

- Oct 12, 2018 (152)
162 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 33661475 (NC_000013.10:33628137:T:T 3111/3708, NC_000013.10:33628137:T:G 597/3708)
Row 33661476 (NC_000013.10:33628137:T:T 3708/3708, NC_000013.10:33628137:T:A 0/3708)

- Oct 12, 2018 (152)
163 ALFA NC_000013.11 - 33054001 Apr 26, 2021 (155)
164 ClinVar RCV000323675.2 Apr 26, 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)
rs52816323 Sep 21, 2007 (128)
rs58038499 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1630027712, ss1673021745 NC_000013.10:33628137:T:A NC_000013.11:33054000:T:A (self)
1565547234 NC_000013.11:33054000:T:A NC_000013.11:33054000:T:A
152318, ss112676450, ss114516210, ss160996619, ss169171980, ss199056711, ss244314943, ss291572649, ss491678399, ss825629763, ss1642367924, ss1713381380, ss2635044300, ss3639015057, ss3639510823, ss3642994620, ss3847474426 NC_000013.9:32526137:T:G NC_000013.11:33054000:T:G (self)
60601745, 23826791, 1580770, 83005, 3249093, 9601894, 1259752, 15019112, 35733610, 470231, 12926115, 859203, 227884, 15674318, 31744379, 8454252, 67429553, ss226118543, ss236204067, ss342374736, ss481960231, ss482918174, ss491058355, ss491478007, ss534898808, ss563593245, ss659189722, ss780695946, ss783369938, ss832586126, ss833184107, ss833774935, ss974486503, ss990263526, ss1067540764, ss1078989733, ss1347748495, ss1576716103, ss1584086544, ss1630027711, ss1673021744, ss1691254668, ss1711354471, ss1752101243, ss1752101244, ss1807557215, ss1917882502, ss1933632388, ss1946358216, ss1959492617, ss2027573479, ss2155937898, ss2359469193, ss2633048546, ss2740358906, ss2749031101, ss2918303330, ss2985001006, ss3010826779, ss3021497977, ss3350398066, ss3627037786, ss3627037787, ss3633045577, ss3633747747, ss3634539219, ss3634539220, ss3635437939, ss3636225757, ss3637188999, ss3638004327, ss3640246550, ss3640246551, ss3644611245, ss3646452540, ss3651883527, ss3653771542, ss3678088543, ss3739641250, ss3744404965, ss3744839933, ss3744839934, ss3751316669, ss3772339023, ss3772339024, ss3824802365, ss3825835302, ss3833484309, ss3840320392, ss3879727399, ss3928556216, ss3984045114, ss3984678380, ss3985633276, ss3986599005, ss5209460246, ss5237524388 NC_000013.10:33628137:T:G NC_000013.11:33054000:T:G (self)
RCV000323675.2, 427302223, 963068, 29709508, 960667, 98591155, 157655554, 1565547234, ss2195366151, ss3027602695, ss3189603972, ss3650005114, ss3695055946, ss3725384758, ss3771739198, ss3816647171, ss3845805371, ss3973331507, ss4942109896, ss5236912307 NC_000013.11:33054000:T:G NC_000013.11:33054000:T:G (self)
ss13222672 NT_024524.12:2202628:T:G NC_000013.11:33054000:T:G (self)
ss15942873, ss52083689 NT_024524.13:14608137:T:G NC_000013.11:33054000:T:G (self)
ss23516134, ss40321689, ss65730118, ss66598489, ss67928047, ss68049206, ss69130672, ss71613869, ss74811304, ss74930851, ss79299245, ss84832247, ss86270298, ss97148525, ss98269586, ss123009083, ss144251544, ss154499532, ss159673384, ss159728047, ss172477305, ss174861918 NT_024524.14:14608137:T:G NC_000013.11:33054000:T:G (self)
Help

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

26 citations for rs9536314
PMID Title Author Year Journal
11792841 Association of human aging with a functional variant of klotho. Arking DE et al. 2002 Proceedings of the National Academy of Sciences of the United States of America
16753056 The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians. Freathy RM et al. 2006 BMC medical genetics
18194558 A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples. Sebastiani P et al. 2008 BMC genetics
20394945 Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. Nguyen M et al. 2010 The Journal of pediatrics
20466664 Association of polymorphisms in the klotho gene with severity of non-diabetic ESRD in African Americans. Bostrom MA et al. 2010 Nephrology, dialysis, transplantation
21153022 Genetic analysis of vertebral trabecular bone density and cross-sectional area in older men. Zmuda JM et al. 2011 Osteoporosis international
21302343 The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects. Rizzi TS et al. 2011 American journal of medical genetics. Part B, Neuropsychiatric genetics
21565945 Lack of association of Klotho gene variants with valvular and vascular calcification in Caucasians: a candidate gene study of the Framingham Offspring Cohort. Tangri N et al. 2011 Nephrology, dialysis, transplantation
21695423 Klotho locus, metabolic traits, and serum hemoglobin in hospitalized older patients: a genetic association analysis. Paroni G et al. 2012 Age (Dordrecht, Netherlands)
22281051 Association of factor V gene polymorphism with arteriovenous graft failure. Allon M et al. 2012 American journal of kidney diseases
22303384 Whole genome sequences of a male and female supercentenarian, ages greater than 114 years. Sebastiani P et al. 2011 Frontiers in genetics
22479352 The role of inflammatory pathway genetic variation on maternal metabolic phenotypes during pregnancy. Urbanek M et al. 2012 PloS one
25556925 Renal function and klotho gene polymorphisms among Uygur and Kazak populations in Xinjiang, China. Xu X et al. 2015 Medical science monitor
26843110 Klotho Gene and Selective Serotonin Reuptake Inhibitors: Response to Treatment in Late-Life Major Depressive Disorder. Paroni G et al. 2017 Molecular neurobiology
28076518 Serum Klotho (but not haplotypes) associate with the post-myocardial infarction status of older adults. Paula RS et al. 2016 Clinics (Sao Paulo, Brazil)
28539162 Longevity Klotho gene polymorphism and the risk of dementia in older men. Almeida OP et al. 2017 Maturitas
29088855 Correlation between <i>KLOTHO</i> gene and mild cognitive impairment in the Uygur and Han populations of Xinjiang. Abulizi P et al. 2017 Oncotarget
30633899 Klotho gene polymorphisms are associated with healthy aging and longevity: Evidence from a meta-analysis. Zhu Z et al. 2019 Mechanisms of ageing and development
31760884 Hypertension in High School Students: Genetic and Environmental Factors: The HYGEF Study. Bigazzi R et al. 2020 Hypertension (Dallas, Tex.
31992575 Klotho Gene in Human Salt-Sensitive Hypertension. Citterio L et al. 2020 Clinical journal of the American Society of Nephrology
32542086 Klotho and vitamin D in multiple sclerosis: an Italian study. Scazzone C et al. 2020 Archives of medical science
32571701 Donor Klotho KL-VS Polymorphism Predicts Allograft Glomerulosclerosis and Early Post-Transplant Kidney Function. Pazik J et al. 2020 Transplantation proceedings
32581247 The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study. Wu PH et al. 2020 Scientific reports
33272153 Factors Affecting Bone Health in Kidney Transplant Recipients: Klotho Gene Single-Nucleotide Polymorphisms and Other Clinical Features. Yeter HH et al. 2020 Experimental and clinical transplantation
33391735 Klotho: a link between cardiovascular and non-cardiovascular mortality. Lanzani C et al. 2020 Clinical kidney journal
33720087 Pediatric Non-Alcoholic Fatty Liver Disease Is Affected by Genetic Variants Involved in Lifespan/Healthspan. Crudele A et al. 2021 Journal of pediatric gastroenterology and nutrition
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