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Reference SNP (refSNP) Cluster Report: rs1990760                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:C=0.4953/60100 (ExAC)
T=0.3566/1786 (1000 Genomes)
T=0.4614/6001 (GO-ESP)
T=0.4273/53653 (TOPMED)
HGVS Names
  • CM000664.2:g.162267541C>T
  • NC_000002.11:g.163124051C>T
  • NC_000002.12:g.162267541C>T
  • NG_011495.1:g.55989G>A
  • NM_022168.3:c.2836G>A
  • NP_071451.2:p.Ala946Thr
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 ss276761773 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1990760 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
ss2902594TSC-CSHL|TSC0852213byFreqfwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct01/03/0104/07/0492Genomicunknown
ss4947688YUSUKE|IMS-JST115264byFreqrev/TA/Gagggaactttacattgtaagagaaaacaaacactgcaaaagaagtgtgccgactatcaaa08/07/0210/10/03108Genomicunknown
ss21701302SSAHASNP|WGSA-200403-chr2.chr2.NT_005403.14_13333468fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/20/0403/20/04121Genomicunknown
ss44168494ABI|hCV2780299fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct07/18/0507/18/05126Genomicunknown
ss48403747APPLERA_GI|hCV2780299byFreqrev/TA/Gagggaactttacattgtaagagaaaacaaacactgcaaaagaagtgtgccgactatcaaa09/28/0511/03/06126Genomicunknown
ss50392596JDRF_WT_DIL|DIL11843rev/TA/Gagggaactttacattgtaagagaaaacaaacactgcaaaagaagtgtgccgactatcaaa01/26/0601/26/06126Genomicunknown
ss65717384ILLUMINA|Human1-rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct10/10/0610/10/06127Genomicunknown
ss66610267ILLUMINA|HumanHap300v1.1_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct11/09/0611/09/06127Genomicunknown
ss67213014ILLUMINA|HumanHap550v1.1_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct11/14/0611/14/06127Genomicunknown
ss67606389ILLUMINA|HumanHap650Yv1.0_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct11/14/0611/14/06127Genomicunknown
ss68833480PERLEGEN|PGP00759886byFreqfwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct01/30/0708/14/07127Genomicunknown
ss70691270ILLUMINA|HumanHap550v3.0__rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct04/20/0703/30/08130Genomicunknown
ss71256257ILLUMINA|HumanHap650Yv3.0_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct04/23/0704/23/07127Genomicunknown
ss74811031AFFY|SNP_M-184841fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct08/09/0708/09/07128Genomicunknown
ss75453486ILLUMINA|ILMN_Human_1M_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct08/28/0708/29/07129Genomicunknown
ss76887512SI_EXO|NT_005403.16_13333469byFreqfwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct09/20/0709/05/14129Genomicunknown
ss79105725ILLUMINA|HumanHap300v2.0_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct04/18/0711/18/07130Genomicunknown
ss83937488KRIBB_YJKIM|KHS577871fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/04/0712/06/07130Genomicunknown
ss96443444HUMANGENOME_JCVI|1103658273295fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/26/0803/26/08130Genomicunknown
ss1101731201000GENOMES|CEU.trio.12.15.2008_511147_chr2_162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/17/0812/17/08130Genomicunknown
ss1111865491000GENOMES|NA19240_2008_12_16_461273_chr2_162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/17/0812/17/08130Genomicunknown
ss120037439ILLUMINA|GS0007123-OPA_Ober-rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct02/24/0902/24/09131Genomicunknown
ss120245492ILLUMINA|GS0006561-OPA_rs1990760-108_B_F_1039875fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/17/0903/17/09131Genomicunknown
ss121875364ILLUMINA|HumanCNV370v1_C_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct04/14/0904/14/09131Genomicunknown
ss136083658ENSEMBL|ENSSNP1649421byFreqfwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/08/0803/07/10131Genomicunknown
ss153805576ILLUMINA|Human610_Quadv1_B_rs1990760-128_B_F_1501698457fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct06/18/0906/19/09131Genomicunknown
ss157919140GMI|GMI_SNP_76631551fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct06/24/0906/25/09131Genomicunknown
ss159346541ILLUMINA|Human660W-Quad_v1_A_rs1990760-128_B_F_1501698457fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct07/06/0907/07/09131Genomicunknown
ss159702960SEATTLESEQ|IFIH1-162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct07/10/0907/10/09131Genomicunknown
ss160485113ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1990760-128_B_F_1501698457fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct08/04/0910/02/09131Genomicunknown
ss164689278COMPLETE_GENOMICS|NA19240_36_chr2_162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct09/29/0909/30/09132Genomicunknown
ss167369313COMPLETE_GENOMICS|NA20431_36_chr2_162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct09/30/0909/30/09132Genomicunknown
ss170928015ILLUMINA|HumanCNV370-Quadv3_C_rs1990760-128_B_F_1501698457fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct10/01/0910/03/09132Genomicunknown
ss173028520ILLUMINA|Human1M-Duov3_B_rs1990760-128_B_F_1501698457fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct10/01/0910/02/09132Genomicunknown
ss205583881BCM-HGSC-SUB|BCM_CMT_1011-271047fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/15/1003/16/10132Genomicunknown
ss2196204601000GENOMES|pilot_1_YRI_1430143_chr2_162832297fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct04/22/1004/22/10132Genomicunknown
ss2314449861000GENOMES|pilot_1_CEU_1049615_chr2_162832297fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct05/01/1005/01/10132Genomicunknown
ss2389366011000GENOMES|pilot_1_CHB+JPT_821678_chr2_162832297fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct05/01/1005/01/10132Genomicunknown
ss244255977ILLUMINA|Linkage_12_rs1990760rev/TA/Gagggaactttacattgtaagagaaaacaaacactgcaaaagaagtgtgccgactatcaaa06/09/1006/09/10132Genomicunknown
ss244286024ILLUMINA|CVDSNP55v1_A_rs1990760fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct06/10/1006/10/10132Genomicunknown
ss253635481BL|SNP169752_2_162832297fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct08/18/1008/18/10134Genomicunknown
ss276761773GMI|GMI_AK_SNP_1081982fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/16/1012/16/10137Genomicunknown
ss284474978GMI|GMI_NA10851_SNP_487749fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct12/17/1012/17/10138Genomicunknown
ss292413884PJP|SNP_1920242_chr2_162832297fwd/C/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct01/21/1101/21/11134Genomicunknown
ss342083519NHLBI-ESP|ESP2500-chr2-163124051byFreqfwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/25/1109/05/14134Genomicunknown
ss480370549ILLUMINA|HumanOmni2.5-4v1_B_rs1990760-128_B_F_1616865148fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt01/30/1210/28/16137Genomicunknown
ss480382819ILLUMINA|HumanOmniExpress-12v1_C_rs1990760-131_B_F_1853406715fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt01/30/1210/27/16137Genomicunknown
ss481155884ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1990760-131_B_F_1865254685fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt01/30/1208/28/15146Genomicunknown
ss484982863ILLUMINA|HumanOmni2.5-4v1_D_rs1990760-131_B_F_1853406715fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt01/30/1210/28/16137Genomicunknown
ss4898376541000GENOMES|20110521_exome_352269_chr2_163124051fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct02/10/1202/21/12137Genomicunknown
ss491326093EXOME_CHIP|nonsyn_42320_chr_2_163124051fwd/BC/Ttttgatagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagttccct03/05/1203/05/12137Genomicunknown
ss491793461CLINSEQ_SNP|SNV-chr2-162832297byFreqfwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/06/1209/05/14137Genomicunknown
ss537018907ILLUMINA|HumanOmni5-4v1_B_rs1990760-131_B_F_1908320102fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt06/22/1208/28/15146Genomicunknown
ss555998633TISHKOFF|snp_chr2_163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/22/1211/23/12138Genomicunknown
ss649645197SSMP|2_163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt12/14/1202/10/15138Genomicunknown
ss778475404ILLUMINA|HumanOmni25Exome-8v1_A_rs1990760-131_B_F_1865254685fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/30/1307/09/15146Genomicunknown
ss780806016ILLUMINA|HumanOmni25Exome-8v1_A_exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/30/1307/09/15146Genomicunknown
ss782937735ILLUMINA|HumanOmni2.5-4v1_H_rs1990760-131_B_F_1853406715fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/30/1307/28/15146Genomicunknown
ss783487675ILLUMINA|HumanOmniExpressExome-8v1_A_exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/31/1306/19/15146Genomicunknown
ss783900409ILLUMINA|HumanOmniExpressExome-8v1_A_rs1990760-131_B_F_1908320102fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/31/1306/19/15146Genomicunknown
ss825436243ILLUMINA|HumanCNV370v1_C_rs1990760-126_B_F_IFB1135359498:0fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt06/24/1311/21/14147Genomicunknown
ss832193285ILLUMINA|HumanOmniExpress-12v1_H_rs1990760-131_B_F_1853406715fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/17/1306/18/15146Genomicunknown
ss833931220ILLUMINA|HumanOmni2.5-8v1_A_rs1990760-131_B_F_1865254685fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/18/1307/28/15146Genomicunknown
ss974444205JMKIDD_LAB|KhoeSan_Exomes_chr2_163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/06/1403/06/14142Genomicunknown
ss977578101EVA-GONL|EVA-GONL_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt04/23/1404/23/14142Genomicunknown
ss1067441883JMKIDD_LAB|HGDP_exomes_chr2_163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt07/09/1407/09/14142Genomicunknown
ss1069656565JMKIDD_LAB|HGDP_WGS_chr2_163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt07/10/1407/10/14142Genomicunknown
ss13001774831000GENOMES|PHASE3_V1_11282179fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt08/16/1408/16/14142Genomicunknown
ss1397310233HAMMER_LAB|HAMMER_LAB_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/30/1407/15/15146Genomicunknown
ss1428802156DDI|DDI_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/04/1411/04/14144Genomicunknown
ss1579173163EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/19/1502/20/15144Genomicunknown
ss1584021587EVA_FINRISK|EVA_FINRISK_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/27/1502/27/15144Genomicunknown
ss1587013704EVA_DECODE|EVA_DECODE_2_162832297_1215618_rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/02/1503/03/15144Genomicunknown
ss1605014370EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_2_163124051_6191988fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/04/1503/04/15144Genomicunknown
ss1648008403EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_2_163124051_6191988fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/04/1503/04/15144Genomicunknown
ss1686566673EVA_EXAC|EVA_EXAC_1453786fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/04/1503/04/15144Genomicunknown
ss1710985124EVA_MGP|EVA_XIMO_101663fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/09/1503/09/15144Genomicunknown
ss1712504942EVA_SVP|EVA_SVP_199494fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt03/12/1503/12/15144Genomicunknown
ss1752320237ILLUMINA|OmniExpressExome-8v1-1_B_exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/27/1506/09/15146Genomicunknown
ss1752320238ILLUMINA|OmniExpressExome-8v1-1_B_rs1990760-131_B_F_1908320102fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/27/1506/09/15146Genomicunknown
ss1917755185ILLUMINA|HumanExome-12v1-1_B_exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt10/16/1510/16/15147Genomicunknown
ss1920830422WEILL_CORNELL_DGM|SNV:chr2:163124051fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt10/16/1510/16/15147Genomicunknown
ss1946056451ILLUMINA|HumanCoreExome-12v1-0_C_exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt10/29/1510/29/15147Genomicunknown
ss1958473396ILLUMINA|exm236837-0_B_F_1918809679fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/13/1511/13/15147Genomicunknown
ss1968938230GENOMED|rs1990760fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/16/1602/16/16147Genomicunknown
ss2020947164JJLAB|SNP1449719fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt08/29/1608/30/16149Genomicunknown
ss2094909916ILLUMINA|Immuno_BeadChip_11419691_B_imm_2_162832297-1_B_F_1670145487fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/27/1609/27/16150Genomicunknown
ss2095102333ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_2_162832297-1_B_F_2310616336fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/27/1609/27/16150Genomicunknown
ss2095102334ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1990760-138_B_F_2264340821fwd/BC/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt09/27/1609/27/16150Genomicunknown
ss2149012368USC_VALOUEV|NC_000002.11:g.163124051C>Tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/17/1611/17/16150Genomicunknown
ss2236052484HUMAN_LONGEVITY|HLI-2-162267541-C-Tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/18/1611/18/16150Genomicunknown
ss2402458300TOPMED|2_163124051_C/Tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt11/19/1611/19/16150Genomicunknown
ss2624977810SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV914168fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt01/06/1701/06/17151Genomicunknown
ss2633697099ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_Seq-rs1990760-131_B_F_2130fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/02/1702/02/17151Genomicunknown
ss2633697100ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1990760-131_B_F_2131fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/02/1702/02/17151Genomicunknown
ss2633697101ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1990760-131_B_F_19083201fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/02/1702/02/17151Genomicunknown
ss2703646513GRF|rs1990760fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt02/13/1702/13/17151Genomicunknown
ss2733067584GNOMAD|exomes_rs1990760fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/17/1705/17/17151Genomicunknown
ss2746803168GNOMAD|coding_rs1990760fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/17/1705/17/17151Genomicunknown
ss2782101378GNOMAD|rs1990760fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/17/1705/17/17151Genomicunknown
ss2985189316AFFY|Axiom_PsorMich_Affx-18365617fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/24/1705/24/17151Genomicunknown
ss2985810503AFFY|Axiom_Smokesc1_Affx-18365617fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/24/1705/24/17151Genomicunknown
ss2990765256SWEGEN|NC_000002.11:g.163124051C>Tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt05/30/1705/30/17151Genomicunknown
ss3022034204ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm236837-0_B_F_1918809679fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt06/28/1706/28/17151Genomicunknown
ss3023058688EVA_SAMSUNG_MC|EXOMES.2:g163124051c>tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt07/03/1707/03/17151Genomicunknown
ss3024235388BIOINF_KMB_FNS_UNIBA|2.162267541C>Tfwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt07/05/1707/05/17151Genomicunknown
ss3328619102TOPMED|TOPMed_freeze_5?chr2:162,267,541fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt10/02/1710/02/17151Genomicunknown
ss3344577122CSHL|rs1990760fwd/C/Ttagtcggcacacttcttttgcagtgtttgttttctcttacaatgtaaagt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1990760|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 ATAATGCATA ATATATTGTG TTCTTAAAAA GAGTTCAATG CAGAGTAAAA CAATCATTTT
 ATTGATTCTT ATGTCAGTTC TGTAGCATAA TGAATACATT AATCATAATC ATATTAAATG
 TTTAACTGAT AGTATTTTAA AAGAATCTTC AATCAAGTGC TAATCCTCAT CACTAAATAA
 ACAGCATTCT GAATAGTCAA GATTGGGAAA TGTGATAGGT AATTCTACCC ACTTTTTGTA
 TTGTTTCTTT GTTGAATTAT TTTTGAAAAC CACTACAAAA TTCCTTATTT TGAGACAAGG
 CAAATCTAAG CCTTTGTGCA CCATCATTGT TCCCCAAGCC TGGAAAACAA AAGAGAGAGC
 AAGAGGAAAA TTAAATGTAC ATGCAATTAA ACATTCCTGT TGGCTAAAGT AAAATCTGGC
 CCACAGCAAT TTACTCACCT GGCCACATTT GCAGATGATT TCACCATTTA TTTGATAGTC
 GGCACACTTC TTTTGCAGTG
 Y
 TTTGTTTTCT CTTACAATGT AAAGTTCCCT ATAAGTATCA AAGGGAAAGA ATCATCATGG
 AGAACTGACA AAATACCAGT GTGTAGTTCA TGGGTTATTG GACCTGGAGC TCATCCGCAT
 GCCTGCGGTA TTCTACACGG CATTCCTTCC TTCCCTCCTG CTTCCCAGGC TTGTTATTGC
 AACTAAGGCA ATGCTTCTCT TCTACACATA CCTCTCAAGG GGCATGTTGC CTTTCATAAC
 TTCTTTCAAG TCTGTTGGTT ATATTAACTT GACTTTAGTT GTTCAAAAAT TTGAGAACAA
 ATGATGAGCA TACAAAAATA CGTGCCTTGG ATCAAAATGG CTTTGGTTCT TACACTTCTC
 TTTTCCTGCC CCAGTGCAGT TTATTTAAAA CATAGACATT TAAAATAGGA ATATAATTGA
 GAGGCTAAAG GAGAGGAAGT TGTAAAATAA ATGAATCTCA TTTGCACTAT TTTGAAAGAA
 CATTTACAAT GCAACCTGCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_015118.1 ABBA01004893
dbSNP Blast Analysis
UniGene Cluster ID
163173
OMIM
137100
610155
275000

  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
ss1300177483EAS 1008AF 0.813499990.18650000
EUR 1006AF 0.394600000.60540003
AFR 1322AF 0.874400020.12560000
AMR 694AF 0.609499990.39049998
SAS 978AF 0.435600010.56440002
ss136083658ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss164689278YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss167369313PGP 2IG 1.00000000 1.00000000
ss1686566673ExAc_Aggregated_Populations121408AF 0.495362760.50463724
ss219620460pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss231444986pilot_1_CEU_low_coverage_panel 120AF 0.349999990.64999998
ss238936601pilot_1_CHB+JPT_low_coverage_panel 120AF 0.816666660.18333334
ss2902594CEPH 184AF 0.630000000.37000000
ss342083519ESP_Cohort_Populations 4542GF0.374284450.401585190.224130330.001000000.575077060.42492294
ss48403747AGI_ASP populationmultiple 46IG0.304347810.304347810.391304340.099721000.456521750.54347825
ss491793461CSAgilent 1319GF0.187999990.491000000.321000011.000000000.433499990.56650001
ss4947688JBIC-allele 1494AF 0.775099990.22490001
ss76887512HapMap-CEUEuropean 224IG0.116071430.517857130.366071430.273322000.375000000.62500000
HapMap-HCBAsian 86IG0.720930220.27906978 0.654721000.860465110.13953489
HapMap-JPTAsian 172IG0.546511650.406976730.046511630.438578000.750000000.25000000
HapMap-YRISub-Saharan African 224IG0.875000000.12500000 1.000000000.937500000.06250000
HAPMAP-ASW 98IG0.693877580.224489790.081632650.050043000.806122420.19387755
HAPMAP-CHBAsian 80IG0.725000020.27500001 0.654721000.862500010.13750000
HAPMAP-CHD 170IG0.588235320.41176471 0.150222000.794117630.20588236
HAPMAP-GIH 176IG0.136363640.465909090.397727281.000000000.369318190.63068181
HAPMAP-LWK 180IG0.766666650.23333333 0.583882000.883333330.11666667
HAPMAP-MEX 100IG0.220000000.579999980.200000000.273322000.509999990.49000001
HAPMAP-MKK 286IG0.559440550.342657360.097902100.150222000.730769220.26923078
HAPMAP-TSI 176IG0.125000000.568181810.306818190.150222000.409090910.59090906
ss96443444J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.500+/-0.0050000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Validated by: ILLUMINAPERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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