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Reference SNP (refSNP) Cluster Report: rs1937                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.1549/4490 (ExAC)
C=0.0885/443 (1000 Genomes)
C=0.0697/905 (GO-ESP)
C=0.0793/9954 (TOPMED)
HGVS Names
  • CM000672.2:g.58385582G>C
  • NC_000010.10:g.60145342G>C
  • NC_000010.11:g.58385582G>C
  • NG_053006.1:g.5440G>C
  • NM_001270782.1:c.35G>C
  • NM_003201.2:c.35G>C
  • NP_001257711.1:p.Ser12Thr
  • NP_003192.1:p.Ser12Thr
  • NR_073073.1:n.440G>C
  • XP_011538422.1:p.Ser12Thr
  • XP_011538423.1:p.Ser12Thr
Links
SNP Details are organized in the following sections:
GeneView Map Submission Fasta Resource Diversity Validation

  Integrated Maps (Hint: click on 'Chr Pos' to see variant in the new NCBI variation viewer) back to top

  GeneView back to top

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Submitter records for this RefSNP Cluster back to top
The submission ss280633973 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1937 during BLAST analysis for the current build.


NCBI
Assay ID
Handle|Submitter IDValidation
Status
ss to rs
Orientation
/Strand
Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date
Update
Date
Build
Added
Molecule
Type
Freq
Warning
Ancestral
Allele
Success
Rate
ss1962WIAF|WIAF-3901byFreqfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcaganctgtg01/23/9904/07/0436Genomicunknown
ss5282DEBNICK|cSNP-6fwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg06/04/9910/10/0352cDNAunknown
ss18024CGAP-GAI|64457byFreqfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg08/23/9904/07/0452cDNA99 %
ss1523133LEE|356558fwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg09/13/0010/10/0398cDNAunknown
ss3172930WIAF-CSNP|WIAF-13509byFreqfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg06/19/0104/07/04102cDNAunknown
ss4414324LEE|e356558fwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg04/26/0210/10/03108cDNAunknown
ss16260667CGAP-GAI|1521601fwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg11/18/0311/22/03126cDNAunknown
ss19886487CSHL-HAPMAP|CSHL-HuFF-200402.chr10.NT_008583.16_8696497byFreqfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg02/21/0410/26/06126Genomicunknown
ss24116170PERLEGEN|afd4225063byFreqfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg08/10/0409/13/04126Genomicunknown
ss24793310SEQUENOM|sqnm110307byFreqrev/BC/Gcacagctctgctccagaccttcccagggcatcagcacgccccacatgcttcggagaaacg06/18/0411/02/06126cDNAunknown
ss28501836IMCJ-GDT|IMCJ-TFAM_4-CGfwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg08/20/0408/20/04126Genomicunknown
ss38594591ABI|hCV8975662byFreqfwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg07/15/0511/02/06126Genomicunknown
ss52068505SI_EXO|NT_008583.16_8696497byFreqfwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg03/29/0608/14/07127Genomicunknown
ss65725090ILLUMINA|Human1-rs11006128fwd/TC/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg10/10/0610/10/06127Genomicunknown
ss69080276PERLEGEN|PGP04225063byFreqfwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg01/30/0708/14/07127Genomicunknown
ss69355967BROAD_DGAP|Broad11889747fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg02/16/0702/16/07127Genomicunknown
ss81052321HGSV|Cor18555_SNV_20070510.chr10_59815348fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg11/27/0711/27/07130Genomicunknown
ss159720556SEATTLESEQ|TFAM-59815348fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg07/10/0907/10/09131Genomicunknown
ss161350179ENSEMBL|ENSSNP421195byFreqfwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg09/24/0903/07/10131Genomicunknown
ss2351926501000GENOMES|pilot_1_CEU_4797279_chr10_59815348fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg05/01/1005/01/10132Genomicunknown
ss2418952691000GENOMES|pilot_1_CHB+JPT_3780346_chr10_59815348fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg05/01/1005/01/10132Genomicunknown
ss280633973GMI|GMI_AK_SNP_4954308fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg12/16/1012/16/10137Genomicunknown
ss286197905GMI|GMI_NA10851_SNP_2210688fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg12/17/1012/17/10138Genomicunknown
ss342298244NHLBI-ESP|ESP2500-chr10-60145342byFreqfwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg03/25/1109/05/14134Genomicunknown
ss482619217ILLUMINA|HumanOmni2.5-4v1_B_SNP10-59815348-0_B_F_1623121135fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag01/30/1210/28/16137Genomicunknown
ss483357273ILLUMINA|HumanOmni2.5-4v1_D_kgp4440384-0_T_F_1813317545fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag01/30/1210/27/16137Genomicunknown
ss4909967691000GENOMES|20110521_exome_504567_chr10_60145342fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg02/10/1202/21/12137Genomicunknown
ss491435545EXOME_CHIP|nonsyn_151771_chr_10_60145342fwd/C/Gcgtttctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagagctgtg03/05/1203/05/12137Genomicunknown
ss491625741CLINSEQ_SNP|SNV-chr10-59815348byFreqfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/06/1209/05/14137Genomicunknown
ss535570810ILLUMINA|HumanOmni5-4v1_B_kgp4440384-0_T_F_1813317545fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag06/22/1208/29/15146Genomicunknown
ss656792765SSMP|10_60145342fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag12/14/1202/12/15138Genomicunknown
ss780635307ILLUMINA|HumanOmni25Exome-8v1_A_kgp4440384-0_T_F_1813317545fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/30/1307/10/15146Genomicunknown
ss782121780ILLUMINA|HumanOmni2.5-4v1_H_kgp4440384-0_T_F_1813317545fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/30/1307/29/15146Genomicunknown
ss836129324ILLUMINA|HumanOmni2.5-8v1_A_kgp4440384-0_T_F_1813317545fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag09/18/1307/29/15146Genomicunknown
ss974474682JMKIDD_LAB|KhoeSan_Exomes_chr10_60145342fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/06/1403/06/14142Genomicunknown
ss987532754EVA-GONL|EVA-GONL_rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag04/23/1404/25/14142Genomicunknown
ss13376016301000GENOMES|PHASE3_V1_50261373fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag08/16/1408/16/14142Genomicunknown
ss1575142525EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag02/19/1502/19/15144Genomicunknown
ss1597198008EVA_DECODE|EVA_DECODE_10_59815348_453993_rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/02/1503/03/15144Genomicunknown
ss1624651705EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_10_60145342_27747410fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/04/1503/04/15144Genomicunknown
ss1667645738EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_10_60145342_27747410fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/04/1503/04/15144Genomicunknown
ss1689909627EVA_EXAC|EVA_EXAC_5060653fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/04/1503/04/15144Genomicunknown
ss1711257943EVA_MGP|EVA_XIMO_373703fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag03/09/1503/09/15144Genomicunknown
ss1930895714WEILL_CORNELL_DGM|SNV:chr10:60145342fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag10/16/1510/17/15147Genomicunknown
ss1967139025GENOMED|rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag02/16/1602/16/16147Genomicunknown
ss2026171056JJLAB|SNP6673611fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag08/29/1608/30/16149Genomicunknown
ss2154444071USC_VALOUEV|NC_000010.10:g.60145342G>Cfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag11/17/1611/17/16150Genomicunknown
ss2175080297HUMAN_LONGEVITY|HLI-10-58385582-G-Cfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag11/18/1611/18/16150Genomicunknown
ss2338109141TOPMED|10_60145342_G/Cfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag11/19/1611/19/16150Genomicunknown
ss2632715863ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp4440384-0_T_F_181331754fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag02/02/1702/02/17151Genomicunknown
ss2698687905GRF|rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag02/13/1702/13/17151Genomicunknown
ss2738260460GNOMAD|exomes_rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/17/1705/17/17151Genomicunknown
ss2748393683GNOMAD|coding_rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/17/1705/17/17151Genomicunknown
ss2889245398GNOMAD|rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/19/1705/19/17151Genomicunknown
ss2984912938AFFY|Axiom_PsorMich_Affx-3430414fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/24/1705/24/17151Genomicunknown
ss3006546010SWEGEN|NC_000010.10:g.60145342G>Cfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag05/30/1705/30/17151Genomicunknown
ss3026876260BIOINF_KMB_FNS_UNIBA|10.58385582G>Cfwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag07/05/1707/05/17151Genomicunknown
ss3120909675TOPMED|TOPMed_freeze_5?chr10:58,385,582fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag09/29/1709/29/17151Genomicunknown
ss3349142334CSHL|rs1937fwd/C/Gctccgaagcatgtggggcgtgctgatgccctgggaaggtctggagcagag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1937|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=151
 GACTGTCTGT TACGTACAGC CCTTGTGACC GTCACGGGCG GACACCGGCC AACGCCGGGT
 TGGGGTGAGG CCGCCGCCGC GGTCCCTCCA TCACCCTCCT GGCCCGGCAG AGGAACCCAC
 TGCTCCGGGC GGCCGGGGAC AGAGGTGGCT CAACAGCGCC GCCTCGAAGC CAGAGCCCTC
 CGCAGGCTAG AGGATTGCGG TTTCCCTTCA TCTCCGCGGC TCTTATTCCT CCCCCGCAAG
 GCCGCCCACC GGGGTACGCT CTCCCGCGCC TGCGCCAATT CCGCCCCGCC CCGCCCCCAT
 CTACCGACCG GATGTTAGCA GATTTCCCAT AGTGCCTCGC TAGTGGCGGG CATGATAACA
 CACGCCGGAG GGTCGCACGC GGGTTCCAGT TGTGATTGCT GGAGTTGTGT ATTGCCAGGA
 GGCTCTCCGA GATTGGGGTC GGGTCACTGC CTCATCCACC GGAGCGATGG CGTTTCTCCG
 AAGCATGTGG GGCGTGCTGA
 S
 TGCCCTGGGA AGGTCTGGAG CAGAGCTGTG CACCGGCTGT GGAAGTCGAC TGCGCTCCCC
 CTTCAGGTAG GCCCGCTTGC CTGTGCCCTA GGGGCAGCAG GGCCCAGGAC GTCCCGGGGT
 TGGAATGTAG ACCCTATCCT TCACTTTCTG CCCCTCCTAG GAGTTCAGAG TCACCCTGGT
 TCTTTGATTC AGACCGCGAC CTTGCCAAGG GGACGGTGGC CTTGAGACCA GGCCTTTATT
 TACTCTCTTA ATACGCCGTA CCTTCTTGCT ACCCTCCACT CGCTTCTCCC ATCCCTCCTC
 ACTGTCCAGC TTTGGATCCT TTCCGCCTCC TCTGCGAATT CGCGCCGAGT CTCCGGCCAT
 CATCTAGGCA TTGAGGAGGC GGGGCCCAGG AGCTGGAGTA TAGACGCTTT CCTTCACTCC
 CTGCCCTTCC TAGGAGGTAA GGGCTTTGAG ACTTCAGTCC TGCAGACGCT CCCCTCCGTT
 TAGGACAGGG TTTTAATAAG

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
G44253 sqnm110307 NT_008583.16 AA449551 Hs.75133 NM_003201
dbSNP Blast Analysis
UniGene Cluster ID
75133

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC
C/C
C/G
G
G/G
HWPC
G
ss1337601630EAS 1008AF 0.171600000.82840002
EUR 1006AF 0.087500000.91249996
AFR 1322AF 0.006800000.99320000
AMR 694AF 0.090800000.90920001
SAS 978AF 0.112500000.88749999
ss161350179ENSEMBL_celera 6IG 0.33333334 0.66666669 0.333333340.66666669
ss1689909627ExAc_Aggregated_Populations118208AF 0.069216970.93078303
ss18024POOLED_CEPH 188AF 0.870999990.12899999
ss1962HydatidiformMolesTissue 10IG 0.20000000 0.80000001 0.200000000.80000001
ss19886487CHMJAsian 74IG0.16216215 0.83783782 0.162162150.83783782
ss235192650pilot_1_CEU_low_coverage_panel 120AF 0.108333330.89166665
ss24116170AFD_EUR_PANELEuropean 48IG 0.29166666 0.708333310.751830000.145833330.85416669
AFD_AFR_PANELAfrican American 46IG 1.00000000 1.00000000
AFD_CHN_PANELAsian 48IG 0.41666666 0.583333310.438578000.208333330.79166669
ss241895269pilot_1_CHB+JPT_low_coverage_panel 120AF 0.158333330.84166664
ss24793310CEPH 184AF 0.130000000.87000000
ss3172930WIAF-CSNP-MITOGPOP5multiple 62IG 0.06451613 0.935483871.000000000.032258060.96774191
ss342298244ESP_Cohort_Populations 3758GF 0.004789780.12187333 0.873336850.751830000.065726450.93427354
ss38594591AoD_Caucasian 92AF 0.160000000.83999997
AoD_Chinese 90AF 0.190000000.81000000
AoD_Japanese 90AF 0.209999990.78999996
ss491625741CSAgilent 239GF 0.20800000 0.792000000.583882000.104000000.89599997
ss52068505HapMap-CEUEuropean 120IG 0.016666670.18333334 0.800000010.751830000.108333330.89166665
HapMap-HCBAsian 90IG 0.022222220.31111112 0.666666690.751830000.177777780.82222223
HapMap-JPTAsian 88IG 0.022727270.20454545 0.772727250.751830000.125000000.87500000
HapMap-YRISub-Saharan African 120IG 1.00000000 1.00000000
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss69080276HapMap-CEUEuropean 120IG 0.016666670.18333334 0.800000010.751830000.108333330.89166665
HapMap-HCBAsian 90IG 0.022222220.31111112 0.666666690.751830000.177777780.82222223
HapMap-JPTAsian 90IG 0.022222220.20000000 0.777777790.654721000.122222220.87777776
HapMap-YRISub-Saharan African 120IG 0.01666667 0.983333351.000000000.008333330.99166667

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.262+/-0.2500000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNYESYES

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