Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs748741

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr9:124327496 (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
A>C / A>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.340459 (90116/264690, TOPMED)
G=0.336915 (52899/157010, ALFA)
G=0.18860 (3161/16760, 8.3KJPN) (+ 18 more)
G=0.36081 (4692/13004, GO-ESP)
G=0.3057 (1531/5008, 1000G)
G=0.3424 (1534/4480, Estonian)
G=0.3583 (1381/3854, ALSPAC)
G=0.3730 (1383/3708, TWINSUK)
G=0.2077 (608/2928, KOREAN)
G=0.2882 (543/1884, HapMap)
G=0.2336 (428/1832, Korea1K)
G=0.368 (367/998, GoNL)
G=0.319 (200/626, Chileans)
G=0.320 (192/600, NorthernSweden)
G=0.071 (38/534, MGP)
A=0.415 (108/260, SGDP_PRJ)
G=0.333 (72/216, Qatari)
G=0.222 (47/212, Vietnamese)
G=0.21 (16/76, Ancient Sardinia)
G=0.20 (8/40, GENOME_DK)
A=0.44 (15/34, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NEK6 : Intron Variant
Publications
0 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 9 NC_000009.12:g.124327496A>C
GRCh38.p13 chr 9 NC_000009.12:g.124327496A>G
GRCh37.p13 chr 9 NC_000009.11:g.127089775A>C
GRCh37.p13 chr 9 NC_000009.11:g.127089775A>G
Gene: NEK6, NIMA related kinase 6 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NEK6 transcript variant 1 NM_001145001.3:c.724+51A>C N/A Intron Variant
NEK6 transcript variant 3 NM_001166167.2:c.676+51A>C N/A Intron Variant
NEK6 transcript variant 5 NM_001166168.2:c.622+51A>C N/A Intron Variant
NEK6 transcript variant 4 NM_001166169.2:c.697+51A>C N/A Intron Variant
NEK6 transcript variant 6 NM_001166170.2:c.622+51A>C N/A Intron Variant
NEK6 transcript variant 7 NM_001166171.2:c.724+51A>C N/A Intron Variant
NEK6 transcript variant 2 NM_014397.6:c.622+51A>C N/A Intron Variant
NEK6 transcript variant X3 XM_005251664.1:c.622+51A>C N/A Intron Variant
NEK6 transcript variant X5 XM_006716936.2:c.622+51A>C N/A Intron Variant
NEK6 transcript variant X2 XM_017014217.1:c.724+51A>C N/A Intron Variant
NEK6 transcript variant X4 XM_024447386.1:c.622+51A>C N/A Intron Variant
NEK6 transcript variant X6 XM_024447387.1:c.622+51A>C N/A Intron 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 (New)
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 157010 A=0.663085 C=0.000000, G=0.336915
European Sub 132030 A=0.654730 C=0.000000, G=0.345270
African Sub 6306 A=0.7380 C=0.0000, G=0.2620
African Others Sub 190 A=0.705 C=0.000, G=0.295
African American Sub 6116 A=0.7390 C=0.0000, G=0.2610
Asian Sub 694 A=0.824 C=0.000, G=0.176
East Asian Sub 506 A=0.820 C=0.000, G=0.180
Other Asian Sub 188 A=0.835 C=0.000, G=0.165
Latin American 1 Sub 814 A=0.708 C=0.000, G=0.292
Latin American 2 Sub 8134 A=0.7111 C=0.0000, G=0.2889
South Asian Sub 140 A=0.736 C=0.000, G=0.264
Other Sub 8892 A=0.6723 C=0.0000, G=0.3277


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 A=0.659541 G=0.340459
8.3KJPN JAPANESE Study-wide 16760 A=0.81140 G=0.18860
GO Exome Sequencing Project Global Study-wide 13004 A=0.63919 G=0.36081
GO Exome Sequencing Project European American Sub 8598 A=0.6272 G=0.3728
GO Exome Sequencing Project African American Sub 4406 A=0.6625 G=0.3375
1000Genomes Global Study-wide 5008 A=0.6943 G=0.3057
1000Genomes African Sub 1322 A=0.6687 G=0.3313
1000Genomes East Asian Sub 1008 A=0.8075 G=0.1925
1000Genomes Europe Sub 1006 A=0.6581 G=0.3419
1000Genomes South Asian Sub 978 A=0.654 G=0.346
1000Genomes American Sub 694 A=0.687 G=0.313
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6576 G=0.3424
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6417 G=0.3583
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6270 G=0.3730
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.7923 G=0.2077
HapMap Global Study-wide 1884 A=0.7118 G=0.2882
HapMap American Sub 766 A=0.696 G=0.304
HapMap African Sub 688 A=0.699 G=0.301
HapMap Asian Sub 254 A=0.787 G=0.213
HapMap Europe Sub 176 A=0.722 G=0.278
Korean Genome Project KOREAN Study-wide 1832 A=0.7664 G=0.2336
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.632 G=0.368
Chileans Chilean Study-wide 626 A=0.681 G=0.319
Northern Sweden ACPOP Study-wide 600 A=0.680 G=0.320
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.929 G=0.071
SGDP_PRJ Global Study-wide 260 A=0.415 G=0.585
Qatari Global Study-wide 216 A=0.667 G=0.333
A Vietnamese Genetic Variation Database Global Study-wide 212 A=0.778 G=0.222
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 76 A=0.79 G=0.21
The Danish reference pan genome Danish Study-wide 40 A=0.80 G=0.20
Siberian Global Study-wide 34 A=0.44 G=0.56
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= C G
GRCh38.p13 chr 9 NC_000009.12:g.124327496= NC_000009.12:g.124327496A>C NC_000009.12:g.124327496A>G
GRCh37.p13 chr 9 NC_000009.11:g.127089775= NC_000009.11:g.127089775A>C NC_000009.11:g.127089775A>G
NEK6 transcript variant 1 NM_001145001.2:c.724+51= NM_001145001.2:c.724+51A>C NM_001145001.2:c.724+51A>G
NEK6 transcript variant 1 NM_001145001.3:c.724+51= NM_001145001.3:c.724+51A>C NM_001145001.3:c.724+51A>G
NEK6 transcript variant 3 NM_001166167.1:c.676+51= NM_001166167.1:c.676+51A>C NM_001166167.1:c.676+51A>G
NEK6 transcript variant 3 NM_001166167.2:c.676+51= NM_001166167.2:c.676+51A>C NM_001166167.2:c.676+51A>G
NEK6 transcript variant 5 NM_001166168.1:c.622+51= NM_001166168.1:c.622+51A>C NM_001166168.1:c.622+51A>G
NEK6 transcript variant 5 NM_001166168.2:c.622+51= NM_001166168.2:c.622+51A>C NM_001166168.2:c.622+51A>G
NEK6 transcript variant 4 NM_001166169.1:c.697+51= NM_001166169.1:c.697+51A>C NM_001166169.1:c.697+51A>G
NEK6 transcript variant 4 NM_001166169.2:c.697+51= NM_001166169.2:c.697+51A>C NM_001166169.2:c.697+51A>G
NEK6 transcript variant 6 NM_001166170.1:c.622+51= NM_001166170.1:c.622+51A>C NM_001166170.1:c.622+51A>G
NEK6 transcript variant 6 NM_001166170.2:c.622+51= NM_001166170.2:c.622+51A>C NM_001166170.2:c.622+51A>G
NEK6 transcript variant 7 NM_001166171.1:c.724+51= NM_001166171.1:c.724+51A>C NM_001166171.1:c.724+51A>G
NEK6 transcript variant 7 NM_001166171.2:c.724+51= NM_001166171.2:c.724+51A>C NM_001166171.2:c.724+51A>G
NEK6 transcript variant 2 NM_014397.5:c.622+51= NM_014397.5:c.622+51A>C NM_014397.5:c.622+51A>G
NEK6 transcript variant 2 NM_014397.6:c.622+51= NM_014397.6:c.622+51A>C NM_014397.6:c.622+51A>G
NEK6 transcript variant X1 XM_005251663.1:c.796+51= XM_005251663.1:c.796+51A>C XM_005251663.1:c.796+51A>G
NEK6 transcript variant X3 XM_005251664.1:c.622+51= XM_005251664.1:c.622+51A>C XM_005251664.1:c.622+51A>G
NEK6 transcript variant X5 XM_006716936.2:c.622+51= XM_006716936.2:c.622+51A>C XM_006716936.2:c.622+51A>G
NEK6 transcript variant X2 XM_017014217.1:c.724+51= XM_017014217.1:c.724+51A>C XM_017014217.1:c.724+51A>G
NEK6 transcript variant X4 XM_024447386.1:c.622+51= XM_024447386.1:c.622+51A>C XM_024447386.1:c.622+51A>G
NEK6 transcript variant X6 XM_024447387.1:c.622+51= XM_024447387.1:c.622+51A>C XM_024447387.1:c.622+51A>G
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#.

113 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss99768 Oct 05, 2000 (86)
2 YUSUKE ss3210674 Sep 28, 2001 (100)
3 TSC-CSHL ss5462913 Oct 08, 2002 (108)
4 SC_JCM ss5996900 Feb 20, 2003 (111)
5 SC_SNP ss16308726 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss18022339 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss19800400 Feb 27, 2004 (120)
8 SSAHASNP ss22830461 Apr 05, 2004 (121)
9 PERLEGEN ss24524222 Sep 20, 2004 (123)
10 ABI ss43897047 Mar 14, 2006 (126)
11 ILLUMINA ss65761708 Oct 16, 2006 (127)
12 AFFY ss66093909 Dec 01, 2006 (127)
13 SI_EXO ss71647741 May 17, 2007 (127)
14 ILLUMINA ss74855130 Dec 07, 2007 (129)
15 AFFY ss76051524 Dec 07, 2007 (129)
16 KRIBB_YJKIM ss81436112 Dec 15, 2007 (130)
17 HGSV ss82489408 Dec 14, 2007 (130)
18 BCMHGSC_JDW ss94141610 Mar 25, 2008 (129)
19 HUMANGENOME_JCVI ss97831061 Feb 03, 2009 (130)
20 1000GENOMES ss109074710 Jan 23, 2009 (130)
21 1000GENOMES ss115072773 Jan 25, 2009 (130)
22 ENSEMBL ss133553879 Dec 01, 2009 (131)
23 ENSEMBL ss144360977 Dec 01, 2009 (131)
24 ILLUMINA ss160881617 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss164869086 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss165822238 Jul 04, 2010 (132)
27 AFFY ss172327915 Jul 04, 2010 (132)
28 ILLUMINA ss174383137 Jul 04, 2010 (132)
29 BUSHMAN ss200887603 Jul 04, 2010 (132)
30 BCM-HGSC-SUB ss206813980 Jul 04, 2010 (132)
31 1000GENOMES ss224457391 Jul 14, 2010 (132)
32 1000GENOMES ss234973914 Jul 15, 2010 (132)
33 1000GENOMES ss241720425 Jul 15, 2010 (132)
34 BL ss254554040 May 09, 2011 (134)
35 GMI ss280402467 May 04, 2012 (137)
36 GMI ss286093859 Apr 25, 2013 (138)
37 PJP ss294372760 May 09, 2011 (134)
38 ILLUMINA ss481572349 May 04, 2012 (137)
39 ILLUMINA ss481602188 May 04, 2012 (137)
40 ILLUMINA ss482573844 Sep 08, 2015 (146)
41 ILLUMINA ss485581222 May 04, 2012 (137)
42 ILLUMINA ss537474247 Sep 08, 2015 (146)
43 TISHKOFF ss561638786 Apr 25, 2013 (138)
44 SSMP ss656133877 Apr 25, 2013 (138)
45 NHLBI-ESP ss712910988 Apr 25, 2013 (138)
46 ILLUMINA ss778603893 Sep 08, 2015 (146)
47 ILLUMINA ss783236183 Sep 08, 2015 (146)
48 ILLUMINA ss784190174 Sep 08, 2015 (146)
49 ILLUMINA ss832496690 Sep 08, 2015 (146)
50 ILLUMINA ss834061212 Sep 08, 2015 (146)
51 EVA-GONL ss986987653 Aug 21, 2014 (142)
52 JMKIDD_LAB ss1076614076 Aug 21, 2014 (142)
53 1000GENOMES ss1335476932 Aug 21, 2014 (142)
54 DDI ss1431963515 Apr 01, 2015 (144)
55 EVA_GENOME_DK ss1583262297 Apr 01, 2015 (144)
56 EVA_DECODE ss1596629371 Apr 01, 2015 (144)
57 EVA_UK10K_ALSPAC ss1623578788 Apr 01, 2015 (144)
58 EVA_UK10K_TWINSUK ss1666572821 Apr 01, 2015 (144)
59 EVA_EXAC ss1689652117 Apr 01, 2015 (144)
60 EVA_EXAC ss1689652118 Apr 01, 2015 (144)
61 EVA_MGP ss1711236673 Apr 01, 2015 (144)
62 EVA_SVP ss1713141579 Apr 01, 2015 (144)
63 ILLUMINA ss1752759896 Sep 08, 2015 (146)
64 HAMMER_LAB ss1806163919 Sep 08, 2015 (146)
65 WEILL_CORNELL_DGM ss1930299156 Feb 12, 2016 (147)
66 JJLAB ss2025873677 Sep 14, 2016 (149)
67 USC_VALOUEV ss2154103048 Dec 20, 2016 (150)
68 HUMAN_LONGEVITY ss2314479439 Dec 20, 2016 (150)
69 TOPMED ss2484998790 Dec 20, 2016 (150)
70 SYSTEMSBIOZJU ss2627403202 Nov 08, 2017 (151)
71 ILLUMINA ss2634918105 Nov 08, 2017 (151)
72 GRF ss2709985365 Nov 08, 2017 (151)
73 GNOMAD ss2737862147 Nov 08, 2017 (151)
74 GNOMAD ss2748264943 Nov 08, 2017 (151)
75 GNOMAD ss2883263697 Nov 08, 2017 (151)
76 SWEGEN ss3005597301 Nov 08, 2017 (151)
77 BIOINF_KMB_FNS_UNIBA ss3026719208 Nov 08, 2017 (151)
78 CSHL ss3348860303 Nov 08, 2017 (151)
79 TOPMED ss3600703539 Nov 08, 2017 (151)
80 TOPMED ss3600703540 Nov 08, 2017 (151)
81 ILLUMINA ss3630357628 Oct 12, 2018 (152)
82 ILLUMINA ss3632807503 Oct 12, 2018 (152)
83 ILLUMINA ss3633548575 Oct 12, 2018 (152)
84 ILLUMINA ss3634277492 Oct 12, 2018 (152)
85 ILLUMINA ss3635233173 Oct 12, 2018 (152)
86 ILLUMINA ss3635955137 Oct 12, 2018 (152)
87 ILLUMINA ss3636982122 Oct 12, 2018 (152)
88 ILLUMINA ss3637708515 Oct 12, 2018 (152)
89 ILLUMINA ss3638836408 Oct 12, 2018 (152)
90 ILLUMINA ss3640940462 Oct 12, 2018 (152)
91 ILLUMINA ss3643761487 Oct 12, 2018 (152)
92 OMUKHERJEE_ADBS ss3646397692 Oct 12, 2018 (152)
93 URBANLAB ss3649239808 Oct 12, 2018 (152)
94 EGCUT_WGS ss3673142301 Jul 13, 2019 (153)
95 EVA_DECODE ss3724760688 Jul 13, 2019 (153)
96 ACPOP ss3736881381 Jul 13, 2019 (153)
97 ILLUMINA ss3745533073 Jul 13, 2019 (153)
98 EVA ss3769697687 Jul 13, 2019 (153)
99 ILLUMINA ss3773024921 Jul 13, 2019 (153)
100 KHV_HUMAN_GENOMES ss3812861471 Jul 13, 2019 (153)
101 EVA ss3824464543 Apr 26, 2020 (154)
102 EVA ss3825762595 Apr 26, 2020 (154)
103 EVA ss3831862827 Apr 26, 2020 (154)
104 SGDP_PRJ ss3873080578 Apr 26, 2020 (154)
105 KRGDB ss3920956366 Apr 26, 2020 (154)
106 KOGIC ss3966754754 Apr 26, 2020 (154)
107 FSA-LAB ss3984428891 Apr 26, 2021 (155)
108 FSA-LAB ss3984428892 Apr 26, 2021 (155)
109 EVA ss3985445771 Apr 26, 2021 (155)
110 EVA ss3986460949 Apr 26, 2021 (155)
111 TOPMED ss4835842573 Apr 26, 2021 (155)
112 TOMMO_GENOMICS ss5195315239 Apr 26, 2021 (155)
113 EVA ss5237205817 Apr 26, 2021 (155)
114 1000Genomes NC_000009.11 - 127089775 Oct 12, 2018 (152)
115 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 127089775 Oct 12, 2018 (152)
116 Chileans NC_000009.11 - 127089775 Apr 26, 2020 (154)
117 Genetic variation in the Estonian population NC_000009.11 - 127089775 Oct 12, 2018 (152)
118 ExAC

Submission ignored due to conflicting rows:
Row 9787660 (NC_000009.11:127089774:A:A 79274/120266, NC_000009.11:127089774:A:G 40992/120266)
Row 9787661 (NC_000009.11:127089774:A:A 120265/120266, NC_000009.11:127089774:A:C 1/120266)

- Oct 12, 2018 (152)
119 ExAC

Submission ignored due to conflicting rows:
Row 9787660 (NC_000009.11:127089774:A:A 79274/120266, NC_000009.11:127089774:A:G 40992/120266)
Row 9787661 (NC_000009.11:127089774:A:A 120265/120266, NC_000009.11:127089774:A:C 1/120266)

- Oct 12, 2018 (152)
120 The Danish reference pan genome NC_000009.11 - 127089775 Apr 26, 2020 (154)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 337788781 (NC_000009.12:124327495:A:C 4/140118)
Row 337788782 (NC_000009.12:124327495:A:G 48334/140076)

- Apr 26, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 337788781 (NC_000009.12:124327495:A:C 4/140118)
Row 337788782 (NC_000009.12:124327495:A:G 48334/140076)

- Apr 26, 2021 (155)
123 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7050240 (NC_000009.11:127089774:A:A 241881/241882, NC_000009.11:127089774:A:C 1/241882)
Row 7050241 (NC_000009.11:127089774:A:A 160060/241882, NC_000009.11:127089774:A:G 81822/241882)

- Jul 13, 2019 (153)
124 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 7050240 (NC_000009.11:127089774:A:A 241881/241882, NC_000009.11:127089774:A:C 1/241882)
Row 7050241 (NC_000009.11:127089774:A:A 160060/241882, NC_000009.11:127089774:A:G 81822/241882)

- Jul 13, 2019 (153)
125 GO Exome Sequencing Project NC_000009.11 - 127089775 Oct 12, 2018 (152)
126 Genome of the Netherlands Release 5 NC_000009.11 - 127089775 Apr 26, 2020 (154)
127 HapMap NC_000009.12 - 124327496 Apr 26, 2020 (154)
128 KOREAN population from KRGDB NC_000009.11 - 127089775 Apr 26, 2020 (154)
129 Korean Genome Project NC_000009.12 - 124327496 Apr 26, 2020 (154)
130 Medical Genome Project healthy controls from Spanish population NC_000009.11 - 127089775 Apr 26, 2020 (154)
131 Northern Sweden NC_000009.11 - 127089775 Jul 13, 2019 (153)
132 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 127089775 Apr 26, 2021 (155)
133 Qatari NC_000009.11 - 127089775 Apr 26, 2020 (154)
134 SGDP_PRJ NC_000009.11 - 127089775 Apr 26, 2020 (154)
135 Siberian NC_000009.11 - 127089775 Apr 26, 2020 (154)
136 8.3KJPN NC_000009.11 - 127089775 Apr 26, 2021 (155)
137 TopMed NC_000009.12 - 124327496 Apr 26, 2021 (155)
138 UK 10K study - Twins NC_000009.11 - 127089775 Oct 12, 2018 (152)
139 A Vietnamese Genetic Variation Database NC_000009.11 - 127089775 Jul 13, 2019 (153)
140 ALFA NC_000009.12 - 124327496 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)
rs17314138 Oct 08, 2004 (123)
rs56878124 May 23, 2008 (130)
rs60593454 Feb 26, 2009 (130)
rs386610593 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1689652118, ss2737862147, ss2748264943, ss2883263697 NC_000009.11:127089774:A:C NC_000009.12:124327495:A:C (self)
420329987, 12513053724, ss3600703539 NC_000009.12:124327495:A:C NC_000009.12:124327495:A:C (self)
ss82489408 NC_000009.9:124169328:A:G NC_000009.12:124327495:A:G (self)
ss94141610, ss109074710, ss115072773, ss164869086, ss165822238, ss200887603, ss206813980, ss254554040, ss280402467, ss286093859, ss294372760, ss481572349, ss1596629371, ss1713141579, ss3643761487 NC_000009.10:126129595:A:G NC_000009.12:124327495:A:G (self)
47795575, 26565562, 471023, 18880549, 9427234, 922301, 11853435, 28133760, 352433, 10166246, 671698, 12341086, 25097558, 6619402, 53284546, 26565562, 5900110, ss224457391, ss234973914, ss241720425, ss481602188, ss482573844, ss485581222, ss537474247, ss561638786, ss656133877, ss712910988, ss778603893, ss783236183, ss784190174, ss832496690, ss834061212, ss986987653, ss1076614076, ss1335476932, ss1431963515, ss1583262297, ss1623578788, ss1666572821, ss1689652117, ss1711236673, ss1752759896, ss1806163919, ss1930299156, ss2025873677, ss2154103048, ss2484998790, ss2627403202, ss2634918105, ss2709985365, ss2737862147, ss2748264943, ss2883263697, ss3005597301, ss3348860303, ss3630357628, ss3632807503, ss3633548575, ss3634277492, ss3635233173, ss3635955137, ss3636982122, ss3637708515, ss3638836408, ss3640940462, ss3646397692, ss3673142301, ss3736881381, ss3745533073, ss3769697687, ss3773024921, ss3824464543, ss3825762595, ss3831862827, ss3873080578, ss3920956366, ss3984428891, ss3984428892, ss3985445771, ss3986460949, ss5195315239 NC_000009.11:127089774:A:G NC_000009.12:124327495:A:G (self)
3920288, 23132755, 420329987, 673220134, 12513053724, ss2314479439, ss3026719208, ss3600703540, ss3649239808, ss3724760688, ss3812861471, ss3966754754, ss4835842573, ss5237205817 NC_000009.12:124327495:A:G NC_000009.12:124327495:A:G (self)
ss16308726, ss18022339, ss19800400, ss22830461 NT_008470.16:28747509:A:G NC_000009.12:124327495:A:G (self)
ss99768, ss3210674, ss5462913, ss5996900, ss24524222, ss43897047, ss65761708, ss66093909, ss71647741, ss74855130, ss76051524, ss81436112, ss97831061, ss133553879, ss144360977, ss160881617, ss172327915, ss174383137 NT_008470.19:56254306:A:G NC_000009.12:124327495:A:G (self)
Help

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

No publications for rs748741

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