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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 Aliases 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.

rs5241

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr11:14968997 (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
G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.020749 (5215/251334, GnomAD_exome)
T=0.053867 (6764/125568, TOPMED)
T=0.023364 (2836/121382, ExAC) (+ 21 more)
T=0.00900 (835/92754, ALFA Project)
T=0.07604 (5984/78700, PAGE_STUDY)
T=0.04871 (1528/31368, GnomAD)
T=0.05574 (724/12988, GO-ESP)
T=0.0547 (274/5008, 1000G)
T=0.0076 (34/4480, Estonian)
T=0.0073 (28/3854, ALSPAC)
T=0.0065 (24/3708, TWINSUK)
T=0.0284 (83/2922, KOREAN)
T=0.0235 (43/1832, Korea1K)
T=0.0849 (136/1602, HapMap)
T=0.006 (6/998, GoNL)
T=0.005 (3/616, Vietnamese)
T=0.008 (5/600, NorthernSweden)
T=0.002 (1/534, MGP)
T=0.030 (9/304, FINRISK)
T=0.019 (4/216, Qatari)
G=0.45 (19/42, SGDP_PRJ)
T=0.03 (1/40, GENOME_DK)
G=0.5 (1/2, Siberian)
T=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CALCA : Missense Variant
Publications
2 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 11 NC_000011.10:g.14968997G>T
GRCh37.p13 chr 11 NC_000011.9:g.14990543G>T
CALCA RefSeqGene (LRG_13) NG_015960.1:g.8290C>A
GRCh37.p13 chr 11 fix patch HG873_PATCH NW_003871082.1:g.50865C>A
Gene: CALCA, calcitonin related polypeptide alpha (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CALCA transcript variant 3 NM_001033953.2:c.227+938C…

NM_001033953.2:c.227+938C>A

N/A Intron Variant
CALCA transcript variant 2 NM_001033952.2:c.228C>A S [AGC] > R [AGA] Coding Sequence Variant
calcitonin isoform CT preproprotein NP_001029124.1:p.Ser76Arg S (Ser) > R (Arg) Missense Variant
CALCA transcript variant 1 NM_001741.3:c.228C>A S [AGC] > R [AGA] Coding Sequence Variant
calcitonin isoform CT preproprotein NP_001732.1:p.Ser76Arg S (Ser) > R (Arg) Missense Variant
CALCA transcript variant 4 NR_125898.2:n.344C>A N/A Non Coding Transcript Variant
CALCA transcript variant X1 XM_017018283.1:c.228C>A S [AGC] > R [AGA] Coding Sequence Variant
calcitonin isoform X1 XP_016873772.1:p.Ser76Arg S (Ser) > R (Arg) Missense Variant
CALCA transcript variant X2 XM_017018284.1:c.228C>A S [AGC] > R [AGA] Coding Sequence Variant
calcitonin isoform X1 XP_016873773.1:p.Ser76Arg S (Ser) > R (Arg) 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.

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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 92754 G=0.99100 T=0.00900
European Sub 83948 G=0.99402 T=0.00598
African Sub 1956 G=0.8686 T=0.1314
African Others Sub 50 G=0.74 T=0.26
African American Sub 1906 G=0.8720 T=0.1280
Asian Sub 72 G=1.00 T=0.00
East Asian Sub 40 G=1.00 T=0.00
Other Asian Sub 32 G=1.00 T=0.00
Latin American 1 Sub 8 G=1.0 T=0.0
Latin American 2 Sub 34 G=0.97 T=0.03
South Asian Sub 4 G=1.0 T=0.0
Other Sub 6732 G=0.9889 T=0.0111


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 251334 G=0.979251 T=0.020749
gnomAD - Exomes European Sub 135266 G=0.989436 T=0.010564
gnomAD - Exomes Asian Sub 49010 G=0.98351 T=0.01649
gnomAD - Exomes American Sub 34590 G=0.98965 T=0.01035
gnomAD - Exomes African Sub 16252 G=0.84562 T=0.15438
gnomAD - Exomes Ashkenazi Jewish Sub 10078 G=0.99643 T=0.00357
gnomAD - Exomes Other Sub 6138 G=0.9878 T=0.0122
TopMed Global Study-wide 125568 G=0.946133 T=0.053867
ExAC Global Study-wide 121382 G=0.976636 T=0.023364
ExAC Europe Sub 73338 G=0.99041 T=0.00959
ExAC Asian Sub 25166 G=0.98303 T=0.01697
ExAC American Sub 11570 G=0.99006 T=0.00994
ExAC African Sub 10400 G=0.84788 T=0.15212
ExAC Other Sub 908 G=0.990 T=0.010
ALFA Total Global 92754 G=0.99100 T=0.00900
ALFA European Sub 83948 G=0.99402 T=0.00598
ALFA Other Sub 6732 G=0.9889 T=0.0111
ALFA African Sub 1956 G=0.8686 T=0.1314
ALFA Asian Sub 72 G=1.00 T=0.00
ALFA Latin American 2 Sub 34 G=0.97 T=0.03
ALFA Latin American 1 Sub 8 G=1.0 T=0.0
ALFA South Asian Sub 4 G=1.0 T=0.0
The PAGE Study Global Study-wide 78700 G=0.92396 T=0.07604
The PAGE Study AfricanAmerican Sub 32516 G=0.85887 T=0.14113
The PAGE Study Mexican Sub 10810 G=0.98918 T=0.01082
The PAGE Study Asian Sub 8318 G=0.9717 T=0.0283
The PAGE Study PuertoRican Sub 7918 G=0.9494 T=0.0506
The PAGE Study NativeHawaiian Sub 4534 G=0.9932 T=0.0068
The PAGE Study Cuban Sub 4230 G=0.9702 T=0.0298
The PAGE Study Dominican Sub 3828 G=0.9112 T=0.0888
The PAGE Study CentralAmerican Sub 2448 G=0.9702 T=0.0298
The PAGE Study SouthAmerican Sub 1982 G=0.9849 T=0.0151
The PAGE Study NativeAmerican Sub 1260 G=0.9746 T=0.0254
The PAGE Study SouthAsian Sub 856 G=0.988 T=0.012
gnomAD - Genomes Global Study-wide 31368 G=0.95129 T=0.04871
gnomAD - Genomes European Sub 18890 G=0.98851 T=0.01149
gnomAD - Genomes African Sub 8694 G=0.8561 T=0.1439
gnomAD - Genomes East Asian Sub 1558 G=0.9827 T=0.0173
gnomAD - Genomes Other Sub 1088 G=0.9761 T=0.0239
gnomAD - Genomes American Sub 848 G=0.993 T=0.007
gnomAD - Genomes Ashkenazi Jewish Sub 290 G=0.997 T=0.003
GO Exome Sequencing Project Global Study-wide 12988 G=0.94426 T=0.05574
GO Exome Sequencing Project European American Sub 8588 G=0.9909 T=0.0091
GO Exome Sequencing Project African American Sub 4400 G=0.8532 T=0.1468
1000Genomes Global Study-wide 5008 G=0.9453 T=0.0547
1000Genomes African Sub 1322 G=0.8366 T=0.1634
1000Genomes East Asian Sub 1008 G=0.9861 T=0.0139
1000Genomes Europe Sub 1006 G=0.9940 T=0.0060
1000Genomes South Asian Sub 978 G=0.975 T=0.025
1000Genomes American Sub 694 G=0.980 T=0.020
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9924 T=0.0076
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9927 T=0.0073
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9935 T=0.0065
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9716 T=0.0284
Korean Genome Project KOREAN Study-wide 1832 G=0.9765 T=0.0235
HapMap Global Study-wide 1602 G=0.9151 T=0.0849
HapMap African Sub 692 G=0.847 T=0.153
HapMap American Sub 484 G=0.957 T=0.043
HapMap Asian Sub 252 G=0.968 T=0.032
HapMap Europe Sub 174 G=0.994 T=0.006
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.994 T=0.006
A Vietnamese Genetic Variation Database Global Study-wide 616 G=0.995 T=0.005
Northern Sweden ACPOP Study-wide 600 G=0.992 T=0.008
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.998 T=0.002
FINRISK Finnish from FINRISK project Study-wide 304 G=0.970 T=0.030
Qatari Global Study-wide 216 G=0.981 T=0.019
SGDP_PRJ Global Study-wide 42 G=0.45 T=0.55
The Danish reference pan genome Danish Study-wide 40 G=0.97 T=0.03
Siberian Global Study-wide 2 G=0.5 T=0.5
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement G= T Note
GRCh38.p12 chr 11 NC_000011.10:g.14968997= NC_000011.10:g.14968997G>T
GRCh37.p13 chr 11 NC_000011.9:g.14990543= NC_000011.9:g.14990543G>T
CALCA RefSeqGene (LRG_13) NG_015960.1:g.8290= NG_015960.1:g.8290C>A
CALCA transcript variant 1 NM_001741.3:c.228= NM_001741.3:c.228C>A
CALCA transcript variant 1 NM_001741.2:c.228= NM_001741.2:c.228C>A
CALCA transcript variant 4 NR_125898.2:n.344= NR_125898.2:n.344C>A
CALCA transcript variant 4 NR_125898.1:n.279= NR_125898.1:n.279C>A
CALCA transcript variant 2 NM_001033952.2:c.228= NM_001033952.2:c.228C>A
CALCA transcript variant 5 NM_001378949.1:c.228= NM_001378949.1:c.228C>A
GRCh37.p13 chr 11 fix patch HG873_PATCH NW_003871082.1:g.50865= NW_003871082.1:g.50865C>A
CALCA transcript variant X2 XM_017018284.1:c.228= XM_017018284.1:c.228C>A
CALCA transcript variant X1 XM_017018283.1:c.228= XM_017018283.1:c.228C>A
calcitonin isoform CT preproprotein NP_001732.1:p.Ser76= NP_001732.1:p.Ser76Arg
calcitonin isoform CT preproprotein NP_001029124.1:p.Ser76= NP_001029124.1:p.Ser76Arg
calcitonin isoform X1 XP_016873773.1:p.Ser76= XP_016873773.1:p.Ser76Arg
calcitonin isoform X1 XP_016873772.1:p.Ser76= XP_016873772.1:p.Ser76Arg
CALCA transcript variant 3 NM_001033953.2:c.227+938= NM_001033953.2:c.227+938C…

NM_001033953.2:c.227+938C>A

CALCA transcript variant X2 XM_005253134.1:c.227+938= XM_005253134.1:c.227+938C…

XM_005253134.1:c.227+938C>A

CALCA transcript variant X2 XM_005277736.1:c.227+938= XM_005277736.1:c.227+938C…

XM_005277736.1:c.227+938C>A

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#.

114 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 ARAVINDA ss6687 Sep 19, 2000 (52)
2 IMCJ-GDT ss22886813 Apr 05, 2004 (121)
3 PERLEGEN ss23582956 Sep 20, 2004 (123)
4 EGP_SNPS ss38350180 Mar 13, 2006 (126)
5 APPLERA_GI ss48420291 Mar 13, 2006 (126)
6 ILLUMINA ss65728636 Oct 16, 2006 (127)
7 PERLEGEN ss69310660 May 17, 2007 (127)
8 AFFY ss74807742 Aug 16, 2007 (128)
9 ILLUMINA ss74882322 Dec 06, 2007 (129)
10 1000GENOMES ss114245032 Jan 25, 2009 (130)
11 SEATTLESEQ ss159722741 Dec 01, 2009 (131)
12 ILLUMINA ss160739580 Dec 01, 2009 (131)
13 COMPLETE_GENOMICS ss169162064 Jul 04, 2010 (132)
14 ILLUMINA ss173912879 Jul 04, 2010 (132)
15 BUSHMAN ss202429596 Jul 04, 2010 (132)
16 1000GENOMES ss225107291 Jul 14, 2010 (132)
17 1000GENOMES ss242109383 Jul 15, 2010 (132)
18 ILLUMINA ss244302904 Jul 04, 2010 (132)
19 NHLBI-ESP ss342319648 May 09, 2011 (134)
20 ILLUMINA ss481137124 May 04, 2012 (137)
21 ILLUMINA ss481159273 May 04, 2012 (137)
22 ILLUMINA ss482148528 Sep 11, 2015 (146)
23 ILLUMINA ss485363635 May 04, 2012 (137)
24 1000GENOMES ss491013585 May 04, 2012 (137)
25 EXOME_CHIP ss491447517 May 04, 2012 (137)
26 CLINSEQ_SNP ss491640574 May 04, 2012 (137)
27 ILLUMINA ss537307232 Sep 11, 2015 (146)
28 TISHKOFF ss562404601 Apr 25, 2013 (138)
29 ILLUMINA ss779044651 Aug 21, 2014 (142)
30 ILLUMINA ss780895498 Sep 11, 2015 (146)
31 ILLUMINA ss783127488 Aug 21, 2014 (142)
32 ILLUMINA ss783582221 Sep 11, 2015 (146)
33 ILLUMINA ss784084070 Aug 21, 2014 (142)
34 ILLUMINA ss832386345 Apr 09, 2015 (144)
35 ILLUMINA ss834507536 Aug 21, 2014 (142)
36 EVA-GONL ss988240091 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1067520834 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1077524317 Aug 21, 2014 (142)
39 1000GENOMES ss1340231383 Aug 21, 2014 (142)
40 EVA_GENOME_DK ss1575541875 Apr 09, 2015 (144)
41 EVA_FINRISK ss1584073353 Apr 09, 2015 (144)
42 EVA_DECODE ss1597917690 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1626051367 Apr 09, 2015 (144)
44 EVA_UK10K_TWINSUK ss1669045400 Apr 09, 2015 (144)
45 EVA_EXAC ss1690274559 Apr 09, 2015 (144)
46 EVA_MGP ss1711284352 Apr 09, 2015 (144)
47 EVA_SVP ss1713236274 Apr 01, 2015 (144)
48 ILLUMINA ss1752006484 Sep 11, 2015 (146)
49 ILLUMINA ss1752006485 Sep 11, 2015 (146)
50 HAMMER_LAB ss1806706772 Sep 11, 2015 (146)
51 ILLUMINA ss1917856893 Feb 17, 2016 (147)
52 WEILL_CORNELL_DGM ss1931602253 Feb 17, 2016 (147)
53 ILLUMINA ss1946303612 Feb 17, 2016 (147)
54 ILLUMINA ss1946303613 Feb 17, 2016 (147)
55 ILLUMINA ss1959328154 Feb 17, 2016 (147)
56 ILLUMINA ss1959328155 Feb 17, 2016 (147)
57 AMU ss1966651230 Feb 17, 2016 (147)
58 ILLUMINA ss2095020267 Oct 12, 2018 (152)
59 USC_VALOUEV ss2154832432 Oct 12, 2018 (152)
60 HUMAN_LONGEVITY ss2180421235 Dec 20, 2016 (150)
61 TOPMED ss2343583659 Oct 12, 2018 (152)
62 ILLUMINA ss2632805521 Oct 12, 2018 (152)
63 GRF ss2699105063 Oct 12, 2018 (152)
64 ILLUMINA ss2710730013 Oct 12, 2018 (152)
65 GNOMAD ss2738823062 Oct 12, 2018 (152)
66 GNOMAD ss2748568869 Oct 12, 2018 (152)
67 GNOMAD ss2896653277 Oct 12, 2018 (152)
68 AFFY ss2984935553 Oct 12, 2018 (152)
69 SWEGEN ss3007645342 Oct 12, 2018 (152)
70 ILLUMINA ss3021311770 Oct 12, 2018 (152)
71 ILLUMINA ss3021311771 Oct 12, 2018 (152)
72 TOPMED ss3137803031 Nov 08, 2017 (151)
73 CSHL ss3349468207 Oct 12, 2018 (152)
74 ILLUMINA ss3625596676 Oct 12, 2018 (152)
75 ILLUMINA ss3626607379 Oct 12, 2018 (152)
76 ILLUMINA ss3626607380 Oct 12, 2018 (152)
77 ILLUMINA ss3630824498 Oct 12, 2018 (152)
78 ILLUMINA ss3632976984 Oct 12, 2018 (152)
79 ILLUMINA ss3633675766 Oct 12, 2018 (152)
80 ILLUMINA ss3634442502 Oct 12, 2018 (152)
81 ILLUMINA ss3634442503 Oct 12, 2018 (152)
82 ILLUMINA ss3635367618 Oct 12, 2018 (152)
83 ILLUMINA ss3636126787 Oct 12, 2018 (152)
84 ILLUMINA ss3637118420 Oct 12, 2018 (152)
85 ILLUMINA ss3637893061 Oct 12, 2018 (152)
86 ILLUMINA ss3640149841 Oct 12, 2018 (152)
87 ILLUMINA ss3640149842 Oct 12, 2018 (152)
88 ILLUMINA ss3641011784 Oct 12, 2018 (152)
89 ILLUMINA ss3642892632 Oct 12, 2018 (152)
90 ILLUMINA ss3644556406 Oct 12, 2018 (152)
91 ILLUMINA ss3644556407 Oct 12, 2018 (152)
92 OMUKHERJEE_ADBS ss3646422801 Oct 12, 2018 (152)
93 ILLUMINA ss3651673981 Oct 12, 2018 (152)
94 ILLUMINA ss3651673982 Oct 12, 2018 (152)
95 ILLUMINA ss3653707276 Oct 12, 2018 (152)
96 EGCUT_WGS ss3675044038 Jul 13, 2019 (153)
97 EVA_DECODE ss3691271617 Jul 13, 2019 (153)
98 ILLUMINA ss3725219686 Jul 13, 2019 (153)
99 ACPOP ss3737946525 Jul 13, 2019 (153)
100 ILLUMINA ss3744081304 Jul 13, 2019 (153)
101 ILLUMINA ss3744377439 Jul 13, 2019 (153)
102 ILLUMINA ss3744743420 Jul 13, 2019 (153)
103 ILLUMINA ss3744743421 Jul 13, 2019 (153)
104 EVA ss3748978497 Jul 13, 2019 (153)
105 PAGE_CC ss3771608284 Jul 13, 2019 (153)
106 ILLUMINA ss3772243488 Jul 13, 2019 (153)
107 ILLUMINA ss3772243489 Jul 13, 2019 (153)
108 KHV_HUMAN_GENOMES ss3814326621 Jul 13, 2019 (153)
109 EVA ss3824597154 Apr 26, 2020 (154)
110 EVA ss3825793811 Apr 26, 2020 (154)
111 EVA ss3832494522 Apr 26, 2020 (154)
112 SGDP_PRJ ss3875706209 Apr 26, 2020 (154)
113 KRGDB ss3923941166 Apr 26, 2020 (154)
114 KOGIC ss3969264118 Apr 26, 2020 (154)
115 1000Genomes NC_000011.9 - 14990543 Oct 12, 2018 (152)
116 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 14990543 Oct 12, 2018 (152)
117 Genetic variation in the Estonian population NC_000011.9 - 14990543 Oct 12, 2018 (152)
118 ExAC NC_000011.9 - 14990543 Oct 12, 2018 (152)
119 FINRISK NC_000011.9 - 14990543 Apr 26, 2020 (154)
120 The Danish reference pan genome NC_000011.9 - 14990543 Apr 26, 2020 (154)
121 gnomAD - Genomes NC_000011.9 - 14990543 Jul 13, 2019 (153)
122 gnomAD - Exomes NC_000011.9 - 14990543 Jul 13, 2019 (153)
123 GO Exome Sequencing Project NC_000011.9 - 14990543 Oct 12, 2018 (152)
124 Genome of the Netherlands Release 5 NC_000011.9 - 14990543 Apr 26, 2020 (154)
125 HapMap NC_000011.10 - 14968997 Apr 26, 2020 (154)
126 KOREAN population from KRGDB NC_000011.9 - 14990543 Apr 26, 2020 (154)
127 Korean Genome Project NC_000011.10 - 14968997 Apr 26, 2020 (154)
128 Medical Genome Project healthy controls from Spanish population NC_000011.9 - 14990543 Apr 26, 2020 (154)
129 Northern Sweden NC_000011.9 - 14990543 Jul 13, 2019 (153)
130 The PAGE Study NC_000011.10 - 14968997 Jul 13, 2019 (153)
131 Qatari NC_000011.9 - 14990543 Apr 26, 2020 (154)
132 SGDP_PRJ NC_000011.9 - 14990543 Apr 26, 2020 (154)
133 Siberian NC_000011.9 - 14990543 Apr 26, 2020 (154)
134 TopMed NC_000011.10 - 14968997 Oct 12, 2018 (152)
135 UK 10K study - Twins NC_000011.9 - 14990543 Oct 12, 2018 (152)
136 A Vietnamese Genetic Variation Database NC_000011.9 - 14990543 Jul 13, 2019 (153)
137 dbGaP Population Frequency Project NC_000011.10 - 14968997 Apr 26, 2020 (154)
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)
rs52794108 Sep 21, 2007 (128)
rs386598062 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss114245032, ss169162064, ss202429596, ss481137124, ss491640574, ss1597917690, ss1713236274, ss3642892632 NC_000011.8:14947118:G:T NC_000011.10:14968996:G:T (self)
52718292, 29284028, 20782286, 523622, 69814, 2456007, 143975418, 8033454, 1054772, 13058278, 31118560, 400112, 11231390, 13644183, 27723189, 7348786, 29284028, 6501137, ss225107291, ss242109383, ss342319648, ss481159273, ss482148528, ss485363635, ss491013585, ss491447517, ss537307232, ss562404601, ss779044651, ss780895498, ss783127488, ss783582221, ss784084070, ss832386345, ss834507536, ss988240091, ss1067520834, ss1077524317, ss1340231383, ss1575541875, ss1584073353, ss1626051367, ss1669045400, ss1690274559, ss1711284352, ss1752006484, ss1752006485, ss1806706772, ss1917856893, ss1931602253, ss1946303612, ss1946303613, ss1959328154, ss1959328155, ss1966651230, ss2095020267, ss2154832432, ss2343583659, ss2632805521, ss2699105063, ss2710730013, ss2738823062, ss2748568869, ss2896653277, ss2984935553, ss3007645342, ss3021311770, ss3021311771, ss3349468207, ss3625596676, ss3626607379, ss3626607380, ss3630824498, ss3632976984, ss3633675766, ss3634442502, ss3634442503, ss3635367618, ss3636126787, ss3637118420, ss3637893061, ss3640149841, ss3640149842, ss3641011784, ss3644556406, ss3644556407, ss3646422801, ss3651673981, ss3651673982, ss3653707276, ss3675044038, ss3737946525, ss3744081304, ss3744377439, ss3744743420, ss3744743421, ss3748978497, ss3772243488, ss3772243489, ss3824597154, ss3825793811, ss3832494522, ss3875706209, ss3923941166 NC_000011.9:14990542:G:T NC_000011.10:14968996:G:T (self)
556029, 25642119, 829753, 57590525, 124626955, ss2180421235, ss3137803031, ss3691271617, ss3725219686, ss3771608284, ss3814326621, ss3969264118 NC_000011.10:14968996:G:T NC_000011.10:14968996:G:T (self)
ss6687, ss22886813, ss23582956, ss38350180, ss48420291, ss65728636, ss69310660, ss74807742, ss74882322, ss159722741, ss160739580, ss173912879, ss244302904 NT_009237.18:14930542:G:T NC_000011.10:14968996:G:T (self)
Help

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

2 citations for rs5241
PMID Title Author Year Journal
16642433 Polymorphism in maternal LRP8 gene is associated with fetal growth. Wang L et al. 2006 American journal of human genetics
17485015 Association between the calcitonin-related peptide alpha (CALCA) gene and essential hypertension in Japanese subjects. Morita A et al. 2007 American journal of hypertension

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.post474+eacaa5c