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Reference SNP (refSNP) Cluster Report: rs619381                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:83/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1147/13828 (ExAC)
T=0.0909/455 (1000 Genomes)
T=0.0896/1165 (GO-ESP)
T=0.0903/11333 (TOPMED)
HGVS Names
  • CM000674.2:g.10801659C>T
  • NC_000012.11:g.10954258C>T
  • NC_000012.12:g.10801659C>T
  • NM_023919.2:c.912G>A
  • NP_076408.1:p.Met304Ile
  • NT_187658.1:g.365C>T
  • NW_003571047.1:g.365C>T
  • NW_003571050.1:g.365C>T
Links , Linkout
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 ss281273513 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs619381 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
ss791742SC_JCM|AC006518.1_570fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca07/27/0010/10/0383Genomicunknown
ss1047573KWOK|OVLP-000804-4781fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca09/02/0010/10/0386Genomic96 %
ss1847472KWOK|OVLP-000925-87599fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca10/06/0010/10/0387Genomic96 %
ss2161055TSC-CSHL|TSC0527355byFreqfwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca10/19/0004/07/0488Genomic95 %
ss2488494SC_JCM|AC016145.10_57589fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca11/03/0010/10/0392Genomicunknown
ss66687076ILLUMINA|HumanHap300v1.1_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca11/09/0611/09/06127Genomicunknown
ss67447861ILLUMINA|HumanHap550v1.1_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca11/14/0611/14/06127Genomicunknown
ss67799107ILLUMINA|HumanHap650Yv1.0_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca11/14/0611/14/06127Genomicunknown
ss69100723PERLEGEN|PGP04773998byFreqfwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca01/30/0708/14/07127Genomicunknown
ss70861029ILLUMINA|HumanHap550v3.0__rs619381rev/TA/Gtgcatctctaaaggtgatttggaaagtaattctattctaaaaggaagaaaattccaacaa04/20/0703/31/08130Genomicunknown
ss71448315ILLUMINA|HumanHap650Yv3.0_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca04/23/0704/23/07127Genomicunknown
ss74811713AFFY|SNP_M-185992fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca08/09/0708/09/07128Genomicunknown
ss75573850ILLUMINA|ILMN_Human_1M_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca08/28/0708/29/07129Genomicunknown
ss76637420AFFY|AFFY_6_1M_SNP_A-8498610fwd/BC/Tttccttttagaatagaattactttccaaatca08/28/0708/30/07129Genomicunknown
ss79218217ILLUMINA|HumanHap300v2.0_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca04/18/0711/18/07130Genomicunknown
ss83499219KRIBB_YJKIM|KHS476029fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca12/04/0712/05/07130Genomicunknown
ss103023707BGI|BGI_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca06/05/0810/21/09131Genomicunknown
ss122524808ILLUMINA|HumanCNV370v1_C_rs619381fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca04/14/0904/15/09131Genomicunknown
ss154356016ILLUMINA|Human610_Quadv1_B_rs619381-128_T_R_1501811279rev/TA/Gtgcatctctaaaggtgatttggaaagtaattctattctaaaaggaagaaaattccaacaa06/18/0906/20/09131Genomicunknown
ss159532275ILLUMINA|Human660W-Quad_v1_A_rs619381-128_T_R_1501811279rev/TA/Gtgcatctctaaaggtgatttggaaagtaattctattctaaaaggaagaaaattccaacaa07/06/0907/07/09131Genomicunknown
ss170397478COMPLETE_GENOMICS|NA20431_36_chr12_10845525fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca10/01/0910/05/09132Genomicunknown
ss172109437ILLUMINA|HumanCNV370-Quadv3_C_rs619381-128_T_R_1501811279rev/TA/Gtgcatctctaaaggtgatttggaaagtaattctattctaaaaggaagaaaattccaacaa10/01/0910/04/09132Genomicunknown
ss173989935ILLUMINA|Human1M-Duov3_B_rs619381-128_T_R_1501811279rev/TA/Gtgcatctctaaaggtgatttggaaagtaattctattctaaaaggaagaaaattccaacaa10/01/0910/04/09132Genomicunknown
ss2358216621000GENOMES|pilot_1_CEU_5426291_chr12_10845525fwd/C/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca05/01/1005/01/10132Genomicunknown
ss2424009601000GENOMES|pilot_1_CHB+JPT_4286037_chr12_10845525fwd/C/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca05/01/1005/01/10132Genomicunknown
ss281273513GMI|GMI_AK_SNP_5593902fwd/C/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca12/16/1012/16/10137Genomicunknown
ss342349806NHLBI-ESP|ESP2500-chr12-10954258byFreqfwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca03/25/1109/05/14134Genomicunknown
ss482971221ILLUMINA|HumanOmni2.5-4v1_B_SNP12-10845525-0_T_R_1627042861fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag01/30/1210/28/16137Genomicunknown
ss483358362ILLUMINA|HumanOmni2.5-4v1_D_kgp4446246-0_T_R_1803432731fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag01/30/1210/27/16137Genomicunknown
ss4910369781000GENOMES|20110521_exome_544776_chr12_10954258fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca02/10/1202/22/12137Genomicunknown
ss491464241EXOME_CHIP|nonsyn_180467_chr_12_10954258fwd/BC/Tttgttggaattttcttccttttagaatagaattactttccaaatcacctttagagatgca03/05/1203/05/12137Genomicunknown
ss491660556CLINSEQ_SNP|SNV-chr12-10845525byFreqfwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/06/1209/05/14137Genomicunknown
ss535571850ILLUMINA|HumanOmni5-4v1_B_kgp4446246-0_T_R_1803432731fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag06/22/1208/29/15146Genomicunknown
ss658522832SSMP|12_10954258fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag12/14/1202/13/15138Genomicunknown
ss779504863ILLUMINA|HumanOmni25Exome-8v1_A_kgp4446246-0_T_R_1803432731fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/30/1307/10/15146Genomicunknown
ss780908061ILLUMINA|HumanOmni25Exome-8v1_A_exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/30/1307/10/15146Genomicunknown
ss782122323ILLUMINA|HumanOmni2.5-4v1_H_kgp4446246-0_T_R_1803432731fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/30/1307/29/15146Genomicunknown
ss783595509ILLUMINA|HumanOmniExpressExome-8v1_A_exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/31/1306/18/15146Genomicunknown
ss825548735ILLUMINA|HumanCNV370v1_C_rs619381-92_T_R_IFB1135783851:0fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag06/24/1311/21/14147Genomicunknown
ss834975140ILLUMINA|HumanOmni2.5-8v1_A_kgp4446246-0_T_R_1803432731fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag09/18/1307/29/15146Genomicunknown
ss989235821EVA-GONL|EVA-GONL_rs619381fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag04/23/1404/25/14142Genomicunknown
ss1067531668JMKIDD_LAB|HGDP_exomes_chr12_10954258fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag07/09/1407/09/14142Genomicunknown
ss1078245027JMKIDD_LAB|HGDP_WGS_chr12_10954258fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag07/10/1407/12/14142Genomicunknown
ss13439044221000GENOMES|PHASE3_V1_56819886fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag08/16/1408/16/14142Genomicunknown
ss1576111982EVA_GENOME_DK|EVA_GENOME_DK_snv_rs619381fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag02/19/1502/19/15144Genomicunknown
ss1584080325EVA_FINRISK|EVA_FINRISK_rs619381fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag02/27/1502/27/15144Genomicunknown
ss1598905025EVA_DECODE|EVA_DECODE_12_10845525_84446_rs619381fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/02/1503/04/15144Genomicunknown
ss1628008409EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_10954258_31432729fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/04/1503/04/15144Genomicunknown
ss1671002442EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_10954258_31432729fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/04/1503/04/15144Genomicunknown
ss1690793319EVA_EXAC|EVA_EXAC_6010351fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/04/1503/04/15144Genomicunknown
ss1711321135EVA_MGP|EVA_XIMO_436895fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/09/1503/09/15144Genomicunknown
ss1713306733EVA_SVP|EVA_SVP_1001100fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag03/12/1503/12/15144Genomicunknown
ss1752045591ILLUMINA|OmniExpressExome-8v1-1_B_exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/27/1506/09/15146Genomicunknown
ss1917870796ILLUMINA|HumanExome-12v1-1_B_exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag10/16/1510/16/15147Genomicunknown
ss1932601325WEILL_CORNELL_DGM|SNV:chr12:10954258fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag10/16/1510/17/15147Genomicunknown
ss1946331517ILLUMINA|HumanCoreExome-12v1-0_C_exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag10/29/1510/29/15147Genomicunknown
ss1959413176ILLUMINA|exm983868-0_T_R_1922453158fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag11/13/1511/13/15147Genomicunknown
ss1967522016GENOMED|rs619381fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag02/16/1602/16/16147Genomicunknown
ss2027045124JJLAB|SNP7547679fwd/BC/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag08/29/1608/30/16149Genomicunknown
ss2155367957USC_VALOUEV|NC_000012.11:g.10954258C>Tfwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag11/17/1611/17/16150Genomicunknown
ss2187759546HUMAN_LONGEVITY|HLI-12-10801659-C-Tfwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag11/18/1611/18/16150Genomicunknown
ss2351396160TOPMED|12_10954258_C/Tfwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag11/19/1611/19/16150Genomicunknown
ss2632924704ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp4446246-0_T_R_180343273fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag02/02/1702/02/17151Genomicunknown
ss2699692981GRF|rs619381fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag02/13/1702/13/17151Genomicunknown
ss2739636554GNOMAD|exomes_rs619381fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/17/1705/17/17151Genomicunknown
ss2748814492GNOMAD|coding_rs619381fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/17/1705/17/17151Genomicunknown
ss2907316376GNOMAD|rs619381fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/22/1705/22/17151Genomicunknown
ss2984967898AFFY|Axiom_PsorMich_Affx-6854696fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/24/1705/24/17151Genomicunknown
ss3009201690SWEGEN|NC_000012.11:g.10954258C>Tfwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag05/30/1705/30/17151Genomicunknown
ss3021405873ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm983868-0_T_R_1922453158fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag06/28/1706/28/17151Genomicunknown
ss3027327112BIOINF_KMB_FNS_UNIBA|12.10801659C>Tfwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag07/05/1707/05/17151Genomicunknown
ss3162895313TOPMED|TOPMed_freeze_5?chr12:10,801,659fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag09/30/1709/30/17151Genomicunknown
ss3349922336CSHL|rs619381fwd/C/Tggaattttcttccttttagaatagaattactttccaaatcacctttagag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs619381|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GATCCAAGAG GAACCATCTA ACGCGGACTA TGAGAAGGAA CTAGTTGCTT TTCATAAAGA
 TGCAAATAAC AGCAAGATGC TGTTACAGTT GTTTTGAATT AGTCACACAA CTTTGCATCT
 GGAAACACGG TTTAGAACTA TGAAAATGCC CTCTACTCTT GATAGTTGAT ATTAGGATAT
 TAATTTCTAT TTGCTCTGAA ACATGTTTTA AAAAACAGCA ACTCTAAAGA AAGGAAGAGT
 TACAGAAGAG AGAAACAGGG ATACACAGAC AGAGTCAGAA ACAGAGACAG AGATAAAGAG
 ATCCAGCCAG CTGTACATAA GATTCCCTAC ATTACAATTA CAGATACACT AATTAAGTTT
 TAGGAGTAAT TAATCACATA AAACATTAAT GCAAGAACTG AAGTTAATTT AGAAACATCT
 TATCTTTGTT TGTCCTAGAA AAGCATAGTT TCTCTTCAGA TTTGTTTATG TTGTTGGAAT
 TTTCTTCCTT TTAGAATAGA
 Y
 ATTACTTTCC AAATCACCTT TAGAGATGCA TGTCTTAATT TATTGTTCCC CAGTATTAGG
 ATAAATGAAT GACTTGAGGG GTAGATTAGA GCTATGGACT CACCAAAAAT CACAGCTAAT
 TCCGTCTCTG GCATAAAGTA GCTGGAGGTG GCAATGAGAA AGGACAAATA GTAGGCAATA
 AAGAGGAGAA GGAAGGAAAT GACAGCTTTC AGGGCTCTCA CATGGGCTTC TGTGCTGGGG
 TCTCTGCACC CTGTGGCACT GAGCTGCATT CGCCTGATAT GTCTCCGCAG GGAGAGGATC
 AAGAGGAAAA AGGACATTAG GCACACACAA AAGGGGAGCA GCGTTGCCAG GTTGAGAAAT
 AACTTGGTAG AAGCATGTTG AGTTTTATTT ACTCTGCAAC TCCAAGTTAA GTTTGTTTTC
 CTCTTTGCCT TCACACAAAA CCTGAAATCA GCGTTCAAAT TCTCAGTGGC TGGAAGGCTA
 ATAAACACAG AGAGAACCAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NC_000012.9 AC006518 AC016145 AC016145.10 AC016145.8
dbSNP Blast Analysis
UniGene Cluster ID
533754

  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/T
T/T
HWPC
T
ss1343904422EAS 1008AF 0.910700020.08930000
EUR 1006AF 0.914500000.08550000
AFR 1322AF 0.990200040.00980000
AMR 694AF 0.889000000.11099999
SAS 978AF 0.806699990.19329999
ss1690793319ExAc_Aggregated_Populations121394AF 0.885776880.11422311
ss170397478PGP 2IG 1.00000000 0.500000000.50000000
ss2161055CEPH 184AF 0.849999960.14999999
HapMap-CEUEuropean 226IG0.831858400.16814159 0.751830000.915929200.08407079
HapMap-HCBAsian 86IG0.837209280.16279070 1.000000000.918604670.08139535
HapMap-JPTAsian 172IG0.790697690.20930232 0.654721000.895348850.10465116
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
HAPMAP-ASW 98IG0.979591850.02040816 1.000000000.989795920.01020408
HAPMAP-CHBAsian 82IG0.707317050.268292700.024390241.000000000.841463390.15853658
HAPMAP-CHD 170IG0.847058830.15294118 1.000000000.923529390.07647059
HAPMAP-GIH 176IG0.602272750.352272720.045454551.000000000.778409060.22159091
HAPMAP-MEX 100IG0.759999990.23999999 0.654721000.880000000.12000000
HAPMAP-MKK 286IG0.979020950.02097902 1.000000000.989510480.01048951
HAPMAP-TSI 176IG0.818181810.18181819 0.751830000.909090940.09090909
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss235821662pilot_1_CEU_low_coverage_panel 120AF 0.933333340.06666667
ss242400960pilot_1_CHB+JPT_low_coverage_panel 120AF 0.899999980.10000000
ss342349806ESP_Cohort_Populations 4504GF0.845914720.144316170.009769090.099721000.918072820.08192717
ss491660556CSAgilent 1266GF0.804804800.181181160.014014010.438578000.895395400.10460460
ss69100723HapMap-CEUEuropean 120IG0.816666660.18333334 0.751830000.908333360.09166667
HapMap-HCBAsian 90IG0.844444450.15555556 1.000000000.922222200.07777778
HapMap-JPTAsian 90IG0.777777790.22222222 0.751830000.888888900.11111111
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
ss791742SC_12_AAsian 24IG0.916666690.08333334 1.000000000.958333310.04166667
SC_12_AAAfrican American 24IG1.00000000 1.00000000
SC_12_CEuropean 8IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.203+/-0.2460000ALFRED: The Allele Frequency Database

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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