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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.

rs11121648

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:5863728 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.440712 (116652/264690, TOPMED)
T=0.423539 (95608/225736, ALFA)
T=0.427491 (59871/140052, GnomAD) (+ 19 more)
G=0.29815 (4997/16760, 8.3KJPN)
T=0.4974 (2491/5008, 1000G)
T=0.4078 (1827/4480, Estonian)
T=0.4172 (1608/3854, ALSPAC)
T=0.4051 (1502/3708, TWINSUK)
G=0.2297 (673/2930, KOREAN)
G=0.4813 (1003/2084, HGDP_Stanford)
T=0.4847 (917/1892, HapMap)
G=0.2129 (390/1832, Korea1K)
T=0.384 (383/998, GoNL)
G=0.380 (238/626, Chileans)
T=0.425 (255/600, NorthernSweden)
G=0.116 (62/534, MGP)
T=0.335 (138/412, SGDP_PRJ)
T=0.431 (93/216, Qatari)
G=0.299 (64/214, Vietnamese)
T=0.42 (28/66, Ancient Sardinia)
T=0.31 (13/42, Siberian)
T=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NPHP4 : Intron Variant
MIR4689 : 2KB Upstream 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 1 NC_000001.11:g.5863728T>G
GRCh37.p13 chr 1 NC_000001.10:g.5923788T>G
NPHP4 RefSeqGene NG_011724.2:g.133744A>C
Gene: NPHP4, nephrocystin 4 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
NPHP4 transcript variant 2 NM_001291593.2:c.2601+162…

NM_001291593.2:c.2601+162A>C

N/A Intron Variant
NPHP4 transcript variant 3 NM_001291594.2:c.2604+162…

NM_001291594.2:c.2604+162A>C

N/A Intron Variant
NPHP4 transcript variant 1 NM_015102.5:c.4140+162A>C N/A Intron Variant
NPHP4 transcript variant 4 NR_111987.2:n. N/A Intron Variant
NPHP4 transcript variant X9 XM_006710563.3:c.4140+162…

XM_006710563.3:c.4140+162A>C

N/A Intron Variant
NPHP4 transcript variant X1 XM_011541213.1:c.4137+162…

XM_011541213.1:c.4137+162A>C

N/A Intron Variant
NPHP4 transcript variant X2 XM_011541214.1:c.4098+162…

XM_011541214.1:c.4098+162A>C

N/A Intron Variant
NPHP4 transcript variant X4 XM_011541215.1:c.4029+162…

XM_011541215.1:c.4029+162A>C

N/A Intron Variant
NPHP4 transcript variant X5 XM_011541216.2:c.4140+162…

XM_011541216.2:c.4140+162A>C

N/A Intron Variant
NPHP4 transcript variant X7 XM_011541217.2:c.4140+162…

XM_011541217.2:c.4140+162A>C

N/A Intron Variant
NPHP4 transcript variant X8 XM_011541218.2:c.4140+162…

XM_011541218.2:c.4140+162A>C

N/A Intron Variant
NPHP4 transcript variant X3 XM_017000996.1:c.4095+162…

XM_017000996.1:c.4095+162A>C

N/A Intron Variant
NPHP4 transcript variant X6 XM_017000997.1:c.4140+162…

XM_017000997.1:c.4140+162A>C

N/A Intron Variant
NPHP4 transcript variant X12 XM_017000999.1:c.3612+162…

XM_017000999.1:c.3612+162A>C

N/A Intron Variant
NPHP4 transcript variant X13 XM_017001000.2:c.3612+162…

XM_017001000.2:c.3612+162A>C

N/A Intron Variant
NPHP4 transcript variant X14 XM_017001001.1:c.3342+162…

XM_017001001.1:c.3342+162A>C

N/A Intron Variant
NPHP4 transcript variant X17 XM_017001003.1:c.2601+162…

XM_017001003.1:c.2601+162A>C

N/A Intron Variant
NPHP4 transcript variant X11 XM_017000998.1:c. N/A Genic Downstream Transcript Variant
NPHP4 transcript variant X16 XM_017001002.1:c. N/A Genic Downstream Transcript Variant
NPHP4 transcript variant X10 XR_001737114.1:n. N/A Intron Variant
NPHP4 transcript variant X15 XR_001737115.1:n. N/A Intron Variant
NPHP4 transcript variant X18 XR_946605.1:n. N/A Genic Downstream Transcript Variant
Gene: MIR4689, microRNA 4689 (minus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MIR4689 transcript NR_039838.1:n. N/A Upstream 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 225736 T=0.423539 G=0.576461
European Sub 191918 T=0.416511 G=0.583489
African Sub 10392 T=0.39906 G=0.60094
African Others Sub 360 T=0.422 G=0.578
African American Sub 10032 T=0.39823 G=0.60177
Asian Sub 794 T=0.680 G=0.320
East Asian Sub 616 T=0.724 G=0.276
Other Asian Sub 178 T=0.528 G=0.472
Latin American 1 Sub 988 T=0.379 G=0.621
Latin American 2 Sub 9014 T=0.5453 G=0.4547
South Asian Sub 5054 T=0.4594 G=0.5406
Other Sub 7576 T=0.4454 G=0.5546


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 T=0.440712 G=0.559288
gnomAD - Genomes Global Study-wide 140052 T=0.427491 G=0.572509
gnomAD - Genomes European Sub 75874 T=0.41996 G=0.58004
gnomAD - Genomes African Sub 41970 T=0.40026 G=0.59974
gnomAD - Genomes American Sub 13614 T=0.48847 G=0.51153
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.4070 G=0.5930
gnomAD - Genomes East Asian Sub 3128 T=0.7136 G=0.2864
gnomAD - Genomes Other Sub 2144 T=0.4543 G=0.5457
8.3KJPN JAPANESE Study-wide 16760 T=0.70185 G=0.29815
1000Genomes Global Study-wide 5008 T=0.4974 G=0.5026
1000Genomes African Sub 1322 T=0.4138 G=0.5862
1000Genomes East Asian Sub 1008 T=0.7004 G=0.2996
1000Genomes Europe Sub 1006 T=0.4463 G=0.5537
1000Genomes South Asian Sub 978 T=0.442 G=0.558
1000Genomes American Sub 694 T=0.514 G=0.486
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.4078 G=0.5922
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.4172 G=0.5828
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.4051 G=0.5949
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.7703 G=0.2297
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.5187 G=0.4813
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.732 G=0.268
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.481 G=0.519
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.406 G=0.594
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.438 G=0.562
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.368 G=0.632
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.648 G=0.352
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.38 G=0.62
HapMap Global Study-wide 1892 T=0.4847 G=0.5153
HapMap American Sub 770 T=0.494 G=0.506
HapMap African Sub 692 T=0.386 G=0.614
HapMap Asian Sub 254 T=0.744 G=0.256
HapMap Europe Sub 176 T=0.460 G=0.540
Korean Genome Project KOREAN Study-wide 1832 T=0.7871 G=0.2129
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.384 G=0.616
Chileans Chilean Study-wide 626 T=0.620 G=0.380
Northern Sweden ACPOP Study-wide 600 T=0.425 G=0.575
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.884 G=0.116
SGDP_PRJ Global Study-wide 412 T=0.335 G=0.665
Qatari Global Study-wide 216 T=0.431 G=0.569
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.701 G=0.299
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 66 T=0.42 G=0.58
Siberian Global Study-wide 42 T=0.31 G=0.69
The Danish reference pan genome Danish Study-wide 40 T=0.35 G=0.65
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= G
GRCh38.p13 chr 1 NC_000001.11:g.5863728= NC_000001.11:g.5863728T>G
GRCh37.p13 chr 1 NC_000001.10:g.5923788= NC_000001.10:g.5923788T>G
NPHP4 RefSeqGene NG_011724.2:g.133744= NG_011724.2:g.133744A>C
NPHP4 transcript variant 2 NM_001291593.2:c.2601+162= NM_001291593.2:c.2601+162A>C
NPHP4 transcript variant 3 NM_001291594.2:c.2604+162= NM_001291594.2:c.2604+162A>C
NPHP4 transcript NM_015102.3:c.4140+162= NM_015102.3:c.4140+162A>C
NPHP4 transcript variant 1 NM_015102.5:c.4140+162= NM_015102.5:c.4140+162A>C
NPHP4 transcript variant X1 XM_005263442.1:c.3612+162= XM_005263442.1:c.3612+162A>C
NPHP4 transcript variant X2 XM_005263443.1:c.3612+162= XM_005263443.1:c.3612+162A>C
NPHP4 transcript variant X3 XM_005263444.1:c.3612+162= XM_005263444.1:c.3612+162A>C
NPHP4 transcript variant X4 XM_005263445.1:c.3612+162= XM_005263445.1:c.3612+162A>C
NPHP4 transcript variant X5 XM_005263446.1:c.2604+162= XM_005263446.1:c.2604+162A>C
NPHP4 transcript variant X9 XM_006710563.3:c.4140+162= XM_006710563.3:c.4140+162A>C
NPHP4 transcript variant X1 XM_011541213.1:c.4137+162= XM_011541213.1:c.4137+162A>C
NPHP4 transcript variant X2 XM_011541214.1:c.4098+162= XM_011541214.1:c.4098+162A>C
NPHP4 transcript variant X4 XM_011541215.1:c.4029+162= XM_011541215.1:c.4029+162A>C
NPHP4 transcript variant X5 XM_011541216.2:c.4140+162= XM_011541216.2:c.4140+162A>C
NPHP4 transcript variant X7 XM_011541217.2:c.4140+162= XM_011541217.2:c.4140+162A>C
NPHP4 transcript variant X8 XM_011541218.2:c.4140+162= XM_011541218.2:c.4140+162A>C
NPHP4 transcript variant X3 XM_017000996.1:c.4095+162= XM_017000996.1:c.4095+162A>C
NPHP4 transcript variant X6 XM_017000997.1:c.4140+162= XM_017000997.1:c.4140+162A>C
NPHP4 transcript variant X12 XM_017000999.1:c.3612+162= XM_017000999.1:c.3612+162A>C
NPHP4 transcript variant X13 XM_017001000.2:c.3612+162= XM_017001000.2:c.3612+162A>C
NPHP4 transcript variant X14 XM_017001001.1:c.3342+162= XM_017001001.1:c.3342+162A>C
NPHP4 transcript variant X17 XM_017001003.1:c.2601+162= XM_017001003.1:c.2601+162A>C
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#.

124 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18069725 Feb 27, 2004 (120)
2 SC_SNP ss18243033 Feb 27, 2004 (120)
3 SSAHASNP ss20429529 Apr 05, 2004 (121)
4 PERLEGEN ss24249852 Sep 20, 2004 (123)
5 ABI ss43838329 Mar 13, 2006 (126)
6 ILLUMINA ss65745289 Oct 13, 2006 (127)
7 AFFY ss66184587 Nov 29, 2006 (127)
8 ILLUMINA ss66732562 Nov 29, 2006 (127)
9 ILLUMINA ss66921782 Nov 29, 2006 (127)
10 ILLUMINA ss67068076 Nov 29, 2006 (127)
11 PERLEGEN ss68757514 May 16, 2007 (127)
12 ILLUMINA ss70389839 May 16, 2007 (127)
13 ILLUMINA ss70519609 May 23, 2008 (130)
14 ILLUMINA ss71048435 May 16, 2007 (127)
15 SI_EXO ss71642227 May 16, 2007 (127)
16 ILLUMINA ss75685310 Dec 06, 2007 (129)
17 AFFY ss76253585 Dec 06, 2007 (129)
18 HGSV ss84991484 Dec 14, 2007 (130)
19 KRIBB_YJKIM ss85071482 Dec 14, 2007 (130)
20 HGSV ss85849682 Dec 14, 2007 (130)
21 HGSV ss86083567 Dec 14, 2007 (130)
22 BCMHGSC_JDW ss87191872 Mar 23, 2008 (129)
23 HUMANGENOME_JCVI ss97916875 Feb 03, 2009 (130)
24 1000GENOMES ss107964714 Jan 22, 2009 (130)
25 1000GENOMES ss109998805 Jan 24, 2009 (130)
26 ILLUMINA ss121447442 Dec 01, 2009 (131)
27 ENSEMBL ss137776526 Dec 01, 2009 (131)
28 ENSEMBL ss138933036 Dec 01, 2009 (131)
29 ILLUMINA ss152937241 Dec 01, 2009 (131)
30 ILLUMINA ss159165233 Dec 01, 2009 (131)
31 ILLUMINA ss159960128 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss163027598 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss163769602 Jul 04, 2010 (132)
34 ILLUMINA ss169792313 Jul 04, 2010 (132)
35 ILLUMINA ss171051940 Jul 04, 2010 (132)
36 AFFY ss172987290 Jul 04, 2010 (132)
37 BUSHMAN ss197958300 Jul 04, 2010 (132)
38 BCM-HGSC-SUB ss205243431 Jul 04, 2010 (132)
39 1000GENOMES ss218215362 Jul 14, 2010 (132)
40 1000GENOMES ss230412779 Jul 14, 2010 (132)
41 1000GENOMES ss238130332 Jul 15, 2010 (132)
42 BL ss252893435 May 09, 2011 (134)
43 GMI ss275699831 May 04, 2012 (137)
44 PJP ss290568708 May 09, 2011 (134)
45 ILLUMINA ss479468820 May 04, 2012 (137)
46 ILLUMINA ss479472843 May 04, 2012 (137)
47 ILLUMINA ss479906381 Sep 08, 2015 (146)
48 ILLUMINA ss484534062 May 04, 2012 (137)
49 ILLUMINA ss536676373 Sep 08, 2015 (146)
50 TISHKOFF ss553752717 Apr 25, 2013 (138)
51 SSMP ss647549791 Apr 25, 2013 (138)
52 ILLUMINA ss778377712 Aug 21, 2014 (142)
53 ILLUMINA ss782713647 Aug 21, 2014 (142)
54 ILLUMINA ss783681373 Aug 21, 2014 (142)
55 ILLUMINA ss825359234 Apr 01, 2015 (144)
56 ILLUMINA ss831965061 Apr 01, 2015 (144)
57 ILLUMINA ss832677800 Aug 21, 2014 (142)
58 ILLUMINA ss833268489 Aug 21, 2014 (142)
59 ILLUMINA ss833832663 Aug 21, 2014 (142)
60 EVA-GONL ss974815803 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1067642485 Aug 21, 2014 (142)
62 1000GENOMES ss1289522665 Aug 21, 2014 (142)
63 DDI ss1425700572 Apr 01, 2015 (144)
64 EVA_GENOME_DK ss1573868569 Apr 01, 2015 (144)
65 EVA_DECODE ss1584174115 Apr 01, 2015 (144)
66 EVA_UK10K_ALSPAC ss1599466029 Apr 01, 2015 (144)
67 EVA_UK10K_TWINSUK ss1642460062 Apr 01, 2015 (144)
68 EVA_MGP ss1710885910 Apr 01, 2015 (144)
69 EVA_SVP ss1712308466 Apr 01, 2015 (144)
70 ILLUMINA ss1751926856 Sep 08, 2015 (146)
71 HAMMER_LAB ss1793828010 Sep 08, 2015 (146)
72 WEILL_CORNELL_DGM ss1918012992 Feb 12, 2016 (147)
73 GENOMED ss1966676632 Jul 19, 2016 (147)
74 JJLAB ss2019522596 Sep 14, 2016 (149)
75 USC_VALOUEV ss2147515283 Dec 20, 2016 (150)
76 HUMAN_LONGEVITY ss2159716303 Dec 20, 2016 (150)
77 TOPMED ss2321871245 Dec 20, 2016 (150)
78 SYSTEMSBIOZJU ss2624277232 Nov 08, 2017 (151)
79 ILLUMINA ss2632471807 Nov 08, 2017 (151)
80 GRF ss2697410794 Nov 08, 2017 (151)
81 ILLUMINA ss2710664518 Nov 08, 2017 (151)
82 GNOMAD ss2751160330 Nov 08, 2017 (151)
83 SWEGEN ss2986230946 Nov 08, 2017 (151)
84 BIOINF_KMB_FNS_UNIBA ss3023525877 Nov 08, 2017 (151)
85 TOPMED ss3067544446 Nov 08, 2017 (151)
86 CSHL ss3343299683 Nov 08, 2017 (151)
87 ILLUMINA ss3626016639 Oct 11, 2018 (152)
88 ILLUMINA ss3630510913 Oct 11, 2018 (152)
89 ILLUMINA ss3632879429 Oct 11, 2018 (152)
90 ILLUMINA ss3633573124 Oct 11, 2018 (152)
91 ILLUMINA ss3634304492 Oct 11, 2018 (152)
92 ILLUMINA ss3635267275 Oct 11, 2018 (152)
93 ILLUMINA ss3635980935 Oct 11, 2018 (152)
94 ILLUMINA ss3637017636 Oct 11, 2018 (152)
95 ILLUMINA ss3637734870 Oct 11, 2018 (152)
96 ILLUMINA ss3638888922 Oct 11, 2018 (152)
97 ILLUMINA ss3639441242 Oct 11, 2018 (152)
98 ILLUMINA ss3640011857 Oct 11, 2018 (152)
99 ILLUMINA ss3642748947 Oct 11, 2018 (152)
100 URBANLAB ss3646591683 Oct 11, 2018 (152)
101 EGCUT_WGS ss3654331485 Jul 12, 2019 (153)
102 EVA_DECODE ss3686083147 Jul 12, 2019 (153)
103 ACPOP ss3726756746 Jul 12, 2019 (153)
104 ILLUMINA ss3744605472 Jul 12, 2019 (153)
105 EVA ss3745779983 Jul 12, 2019 (153)
106 ILLUMINA ss3772107126 Jul 12, 2019 (153)
107 PACBIO ss3783314067 Jul 12, 2019 (153)
108 PACBIO ss3788990544 Jul 12, 2019 (153)
109 PACBIO ss3793863205 Jul 12, 2019 (153)
110 KHV_HUMAN_GENOMES ss3798800843 Jul 12, 2019 (153)
111 EVA ss3826004383 Apr 25, 2020 (154)
112 EVA ss3836389563 Apr 25, 2020 (154)
113 EVA ss3841793844 Apr 25, 2020 (154)
114 HGDP ss3847323336 Apr 25, 2020 (154)
115 SGDP_PRJ ss3848109698 Apr 25, 2020 (154)
116 KRGDB ss3892975162 Apr 25, 2020 (154)
117 KOGIC ss3943730880 Apr 25, 2020 (154)
118 FSA-LAB ss3983913379 Apr 25, 2021 (155)
119 FSA-LAB ss3983913380 Apr 25, 2021 (155)
120 EVA ss3984776366 Apr 25, 2021 (155)
121 EVA ss4016891224 Apr 25, 2021 (155)
122 TOPMED ss4437860169 Apr 25, 2021 (155)
123 TOMMO_GENOMICS ss5142280508 Apr 25, 2021 (155)
124 EVA ss5237158841 Apr 25, 2021 (155)
125 1000Genomes NC_000001.10 - 5923788 Oct 11, 2018 (152)
126 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 5923788 Oct 11, 2018 (152)
127 Chileans NC_000001.10 - 5923788 Apr 25, 2020 (154)
128 Genetic variation in the Estonian population NC_000001.10 - 5923788 Oct 11, 2018 (152)
129 The Danish reference pan genome NC_000001.10 - 5923788 Apr 25, 2020 (154)
130 gnomAD - Genomes NC_000001.11 - 5863728 Apr 25, 2021 (155)
131 Genome of the Netherlands Release 5 NC_000001.10 - 5923788 Apr 25, 2020 (154)
132 HGDP-CEPH-db Supplement 1 NC_000001.9 - 5846375 Apr 25, 2020 (154)
133 HapMap NC_000001.11 - 5863728 Apr 25, 2020 (154)
134 KOREAN population from KRGDB NC_000001.10 - 5923788 Apr 25, 2020 (154)
135 Korean Genome Project NC_000001.11 - 5863728 Apr 25, 2020 (154)
136 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 5923788 Apr 25, 2020 (154)
137 Northern Sweden NC_000001.10 - 5923788 Jul 12, 2019 (153)
138 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 5923788 Apr 25, 2021 (155)
139 Qatari NC_000001.10 - 5923788 Apr 25, 2020 (154)
140 SGDP_PRJ NC_000001.10 - 5923788 Apr 25, 2020 (154)
141 Siberian NC_000001.10 - 5923788 Apr 25, 2020 (154)
142 8.3KJPN NC_000001.10 - 5923788 Apr 25, 2021 (155)
143 TopMed NC_000001.11 - 5863728 Apr 25, 2021 (155)
144 UK 10K study - Twins NC_000001.10 - 5923788 Oct 11, 2018 (152)
145 A Vietnamese Genetic Variation Database NC_000001.10 - 5923788 Jul 12, 2019 (153)
146 ALFA NC_000001.11 - 5863728 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)
rs17431486 Oct 07, 2004 (123)
rs56830647 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84991484, ss85849682, ss86083567, ss3638888922, ss3639441242 NC_000001.8:5858053:T:G NC_000001.11:5863727:T:G (self)
1228, ss66184587, ss76253585, ss87191872, ss107964714, ss109998805, ss159960128, ss163027598, ss163769602, ss172987290, ss197958300, ss205243431, ss252893435, ss275699831, ss290568708, ss479468820, ss825359234, ss1584174115, ss1712308466, ss3642748947, ss3847323336 NC_000001.9:5846374:T:G NC_000001.11:5863727:T:G (self)
192876, 95587, 908, 69733, 1375588, 41987, 152556, 2662, 41611, 2293, 54922, 126678, 31637, 249815, 95587, 21253, ss218215362, ss230412779, ss238130332, ss479472843, ss479906381, ss484534062, ss536676373, ss553752717, ss647549791, ss778377712, ss782713647, ss783681373, ss831965061, ss832677800, ss833268489, ss833832663, ss974815803, ss1067642485, ss1289522665, ss1425700572, ss1573868569, ss1599466029, ss1642460062, ss1710885910, ss1751926856, ss1793828010, ss1918012992, ss1966676632, ss2019522596, ss2147515283, ss2321871245, ss2624277232, ss2632471807, ss2697410794, ss2710664518, ss2751160330, ss2986230946, ss3343299683, ss3626016639, ss3630510913, ss3632879429, ss3633573124, ss3634304492, ss3635267275, ss3635980935, ss3637017636, ss3637734870, ss3640011857, ss3654331485, ss3726756746, ss3744605472, ss3745779983, ss3772107126, ss3783314067, ss3788990544, ss3793863205, ss3826004383, ss3836389563, ss3848109698, ss3892975162, ss3983913379, ss3983913380, ss3984776366, ss4016891224, ss5142280508 NC_000001.10:5923787:T:G NC_000001.11:5863727:T:G (self)
1331534, 7143, 108881, 917431, 1466504, 11837058347, ss2159716303, ss3023525877, ss3067544446, ss3646591683, ss3686083147, ss3798800843, ss3841793844, ss3943730880, ss4437860169, ss5237158841 NC_000001.11:5863727:T:G NC_000001.11:5863727:T:G (self)
ss18069725, ss18243033, ss20429529 NT_021937.16:50846:T:G NC_000001.11:5863727:T:G (self)
ss24249852, ss43838329, ss65745289, ss66732562, ss66921782, ss67068076, ss68757514, ss70389839, ss70519609, ss71048435, ss71642227, ss75685310, ss85071482, ss97916875, ss121447442, ss137776526, ss138933036, ss152937241, ss159165233, ss169792313, ss171051940 NT_021937.19:1928519:T:G NC_000001.11:5863727: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.

No publications for rs11121648

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