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Reference SNP (refSNP) Cluster Report: rs7965602                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.2552/1278 (1000 Genomes)
C=0.2559/32135 (TOPMED)
HGVS Names
  • CM000674.2:g.117656262C>T
  • NC_000012.11:g.118094067C>T
  • NC_000012.12:g.117656262C>T
  • NM_173598.4:c.1084+11212G>A
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 ss12199002 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7965602 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
ss12199002WI_SSAHASNP|chr12.NT_009775.13_6880946byFreqfwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag07/04/0305/17/04116Genomicunknown
ss15518352SC_SNP|NT_009775.14_8612809fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag11/14/0311/22/03120Genomicunknown
ss16575462CSHL-HAPMAP|CSHL-HuAA-200402.chr12.NT_009775.14_8612809fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag02/17/0403/04/04120Genomicunknown
ss20921189SSAHASNP|WGSA-200403-chr12.chr12.NT_009775.14_8612809fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag03/19/0403/19/04121Genomicunknown
ss66693069ILLUMINA|HumanHap300v1.1_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag11/09/0611/09/06127Genomicunknown
ss67853782ILLUMINA|HumanHap550v1.1_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag11/14/0611/14/06127Genomicunknown
ss68005491ILLUMINA|HumanHap650Yv1.0_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag11/14/0611/15/06127Genomicunknown
ss70961447ILLUMINA|HumanHap550v3.0__rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag04/20/0703/31/08130Genomicunknown
ss71570064ILLUMINA|HumanHap650Yv3.0_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag04/23/0704/23/07127Genomicunknown
ss75598547ILLUMINA|ILMN_Human_1M_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag08/28/0708/29/07129Genomicunknown
ss77695406HGSV|Cor12156_SNV_20070510.chr12_116556787fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag10/09/0710/14/07129Genomicunknown
ss79276408ILLUMINA|HumanHap300v2.0_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag04/18/0711/18/07130Genomicunknown
ss84759580KRIBB_YJKIM|KHS801491fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag12/04/0712/07/07130Genomicunknown
ss89411115BCMHGSC_JDW|JWB-0614903fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag02/26/0802/28/08129Genomicunknown
ss105127453BGI|BGI_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgrgttagag08/06/0806/17/09131Genomicunknown
ss119738863ILLUMINA-UK|NA18507_000144383_NCBI36.1_chr12_116578450fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag01/21/0902/05/09131Genomic99 %
ss122872553ILLUMINA|HumanCNV370v1_C_rs7965602fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag04/14/0904/15/09131Genomicunknown
ss133382747ENSEMBL|ENSSNP10684034fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag05/11/0905/14/09131Genomicunknown
ss137565887ENSEMBL|ENSSNP675224fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag12/08/0810/15/09131Genomicunknown
ss154459527ILLUMINA|Human610_Quadv1_B_rs7965602-128_B_F_1501870867fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag06/18/0906/20/09131Genomicunknown
ss157954538GMI|GMI_SNP_96284796fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag06/24/0906/25/09131Genomicunknown
ss159634135ILLUMINA|Human660W-Quad_v1_A_rs7965602-128_B_F_1501870867fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag07/06/0907/07/09131Genomicunknown
ss160934156ILLUMINA|HumanOmni1-Quad_v1-0_B_rs7965602-128_B_F_1512242101fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag08/04/0910/05/09131Genomicunknown
ss168737299COMPLETE_GENOMICS|NA07022_36_chr12_116578450fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag09/30/0910/01/09132Genomicunknown
ss170960234COMPLETE_GENOMICS|NA19240_36_chr12_116578450fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag10/01/0910/01/09132Genomicunknown
ss172376009ILLUMINA|HumanCNV370-Quadv3_C_rs7965602-128_B_F_1501870867fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag10/01/0910/04/09132Genomicunknown
ss174643428ILLUMINA|Human1M-Duov3_B_rs7965602-128_B_F_1501870867fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag10/01/0910/04/09132Genomicunknown
ss198748042BUSHMAN|BUSHMAN-chr12-116578449byFreqfwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag02/16/1009/05/14132Genomicunknown
ss208008611BCM-HGSC-SUB|BCM_CMT_1011-2293481fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag03/15/1003/19/10132Genomicunknown
ss2259861911000GENOMES|pilot_1_YRI_7795874_chr12_116578450fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag04/22/1004/22/10132Genomicunknown
ss2361063981000GENOMES|pilot_1_CEU_5711027_chr12_116578450fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag05/01/1005/01/10132Genomicunknown
ss2426307451000GENOMES|pilot_1_CHB+JPT_4515822_chr12_116578450fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag05/01/1005/01/10132Genomicunknown
ss255360558BL|SNP124948_12_116578450fwd/BC/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag08/19/1008/20/10134Genomicunknown
ss281565354GMI|GMI_AK_SNP_5885743fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag12/16/1012/16/10137Genomicunknown
ss286634674GMI|GMI_NA10851_SNP_2647465fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag12/17/1012/17/10138Genomicunknown
ss291349365PJP|SNP_855723_chr12_116578450fwd/C/Ttattgtctgcgtatcagcatttaagcattgtaactttatataatagtatttgagttagag01/21/1101/21/11134Genomicunknown
ss481734389ILLUMINA|HumanOmni2.5-4v1_B_rs7965602-128_B_F_1767543904fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt01/30/1210/28/16137Genomicunknown
ss533309796ILLUMINA|HumanOmni5-4v1_B_kgp11808234-0_T_R_1803426727fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt06/22/1208/29/15146Genomicunknown
ss563435263TISHKOFF|snp_chr12_118094067fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt11/22/1211/23/12138Genomicunknown
ss659018607SSMP|12_118094067fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt12/14/1202/13/15138Genomicunknown
ss825606926ILLUMINA|HumanCNV370v1_C_rs7965602-121_B_F_IFB1135782573:0fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt06/24/1311/21/14144Genomicunknown
ss990008774EVA-GONL|EVA-GONL_rs7965602fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt04/23/1404/25/14142Genomicunknown
ss1078806501JMKIDD_LAB|HGDP_WGS_chr12_118094067fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt07/10/1407/12/14142Genomicunknown
ss13468277441000GENOMES|PHASE3_V1_59869112fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt08/16/1408/16/14142Genomicunknown
ss1427068006DDI|DDI_rs7965602fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt11/04/1411/04/14144Genomicunknown
ss1576553924EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7965602fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt02/19/1502/19/15144Genomicunknown
ss1629549402EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_118094067_33130602fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt03/04/1503/04/15144Genomicunknown
ss1642117257EVA_DECODE|EVA_DECODE_12_116578450_881042_rs7965602fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt03/02/1503/04/15144Genomicunknown
ss1672543435EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_118094067_33130602fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt03/04/1503/04/15144Genomicunknown
ss1713362087EVA_SVP|EVA_SVP_1056454fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt03/12/1503/12/15144Genomicunknown
ss1807440924HAMMER_LAB|Hsieh_6462941fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt07/15/1507/16/15146Genomicunknown
ss1933362180WEILL_CORNELL_DGM|SNV:chr12:118094067fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt10/16/1510/17/15147Genomicunknown
ss1967691698GENOMED|rs7965602fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt02/16/1602/16/16147Genomicunknown
ss2027438168JJLAB|SNP7940723fwd/BC/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt08/29/1608/30/16149Genomicunknown
ss2155790450USC_VALOUEV|NC_000012.11:g.118094067C>Tfwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt11/17/1611/17/16150Genomicunknown
ss2193585151HUMAN_LONGEVITY|HLI-12-117656262-C-Tfwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt11/18/1611/18/16150Genomicunknown
ss2357609551TOPMED|12_118094067_C/Tfwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt11/19/1611/19/16150Genomicunknown
ss2628200686SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5055615fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt01/06/1701/06/17151Genomicunknown
ss2635041677ILLUMINA|Cancer_BeadChip_11459870_A_rs7965602-128_B_F_1767543904fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt02/02/1702/02/17151Genomicunknown
ss2700150090GRF|rs7965602fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt02/13/1702/13/17151Genomicunknown
ss2915714486GNOMAD|rs7965602fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt05/22/1705/22/17151Genomicunknown
ss3010425615SWEGEN|NC_000012.11:g.118094067C>Tfwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt05/30/1705/30/17151Genomicunknown
ss3027529265BIOINF_KMB_FNS_UNIBA|12.117656262C>Tfwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt07/05/1707/05/17151Genomicunknown
ss3182897256TOPMED|TOPMed_freeze_5?chr12:117,656,262fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt09/30/1709/30/17151Genomicunknown
ss3350270841CSHL|rs7965602fwd/C/Ttctgcgtatcagcatttaagcattgtaactttatataatagtatttgagt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7965602|allelePos=6440|totalLen=7667|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AACAGAAACA GAGAACTGAA ATGGTTTTCT GTACAATGGT AGAGACACAG CCTGCTAATT
 CAGGTCATGA ACTGATCTGG CCTGGGGTTG GAGGAGTGCT CCTCAAAGTC TTTGAAGACA
 GGGACCCCAC ATTATTCATG CTTGCTCTAG TGAACACTGA TTGTCAGCCT CCCCAGCATT
 CATTCTCTCT TTTAAGCAAA tgtcatggtt aatactgagt gacaacttga ttggattgag
 ggatacacat tattaatcct ggatgtgtct gtgtgggtgt tgccaaaaga gtcagtgggc
 tggggaaagc agatccaccc ttaaactggt gggcacaatc taatcagctt ccagggaata
 taaagcaggc agaaaaatgt gaaaaggaga gatgggccta gcctcccagc ctacatcttt
 ctcccgtgct ggatgcttcc tgccctcaaa catacaacca tacaactcca agttcttcag
 ttttgggact aagactggct ctccttgctc ctcagcttgc agacagccta ttgtgggacc
 ttgtgatcgt gtaagttaat atttaataaa ctcatatata tctcctatta gttctgtccc
 tctaagagaa ccctgactaa tatagatttt ggtaccagga gtggttttag aggaatagaa
 tattaaggat ggagttcttt cattgatttg ggggtttctg gagttggctg cttaatatga
 ttagacccaa aaatgctaag gactctactt ctaatagtat agagaacact gatagtcctt
 ggcatgaact gtttagagaa ttatgcaaaa taaatgcatt tgagactcct gattcactgc
 ttatgaaagg caaggagttt agtgacgcta tacataatac ctttgaccat atttggagac
 ccaaggaaca caatgaagct ggttggctgc tcctaagttc agtagacaaa gtgatgaaat
 aaaattatga aagaaattat gaactcaggg attctgtctc ccagcttcag aaacagatac
 tgaacctcaa atctactaag attgccctga gtgagtctta tctcctgtag agaaagagct
 gaaattgtgg aaaaacagac ataagctctt accatgtgag tggctggcta acctgcaatg
 aaaggtgcat gcacagcctc accaggtgtt tactgttaaa gtgagggcat tgattagaaa
 aaaatgagac cctgaaattt ggaatgggga tttgtgggag gaccctgatg aagctgggga
 cattgagttt gtaaactctg atggaccctt tttgccagaa ggaacaactt ccccatcccc
 agaaatggca acatcccctc cccaacccat gctgccatca gcctttccac ctttgtctga
 ggggataaac cctgccctgc ctgaggcaac agtgatggcc tcctctgagg cagttgccag
 gcaaaataat gttgattctc ctcaggagcc acccccaata cccctgtttg cttctagacc
 tataaccaca ctcaagtccc agagggtccc tggaggtgag gttgagagtg tgacccatga
 ggaggtgcac tacactctaa aagaactgtt tgagttctcc aatttatata aacagcaatc
 tagagaacag gcatgggaat ggatattaag ggtgtgggat aatgggggaa ggaacacaga
 gttggatcag gctgaattta ttgatttggg cccactaagt agggactctg catttaatgt
 tgcatattgg ggagttaaaa aaaggttcta atagtttatt tgcttggtta gccgaaatat
 ggattaaaag atggcccact gtgagtgagt tggaaatgcc tgatctccct tggtttaatg
 tagaggaaga gatccaaagg ctcagggaga ttgggatggt ggagtagatt agtcacttta
 gacctactca tcccagctgg gagggtccag aagatatacc cttgaccaat gtcttatgaa
 atagatttgg gagggcagca cctacatctt tgaagagccc tgtaattgct cttctctgta
 tgtcagatct aatggtagga accacagtca ctcaactaca aaatttacat acaaggggaa
 taattggatc ccaaggtggc aagggccaag tggcagcact caactgtcaa aggcaaggtg
 agagtagcta ctgtaatgga cagcaaaggc aaagtggcaa tcagaatact ctgactctaa
 gtgaagtaac tcaggaatgg aaaaccaaac attgtatgtt ctcattgata tgtgggaact
 aagctatgag gacgcaacgg cataagaatg atacagtgga ctttggggac tcaggggcag
 tgtgggaggg gggcgaggga tgaaaagact acaaatatgg tacagtgtat actgctcggg
 tgatatgtgc atcaaaatct cacaaatcac cactaaataa cttactcatg taaccaaata
 ccacctgtac cccaataact tatggaaaaa ataaaaataa taataattta aaaaagaata
 ctctgactca tgtagatctc tggcattggc taattaatca cagtgttcct agaagtgaaa
 ttgataggaa gcctactgca ttcctactta aattatacaa atggaaaatt tctaggtagg
 atggacaaaa ggctaatttg aattataaaa acagagaatc acagcccctc agtcaatttc
 cagacttgag ccagtttaca gaaccagaac cctttgaatg aagggcaggc tgggtccctt
 gaggaaggac cccactacat tacagacaat ttatgcagtg aatctttctc ccatccttcc
 ccaaggacac ctccagcctt ttaacggggt aactgtgcac tggggaaagg gaaatgatca
 gacatttcag ggactactgg acactgactc tgagctgaca cattccaggg gacccaaaaa
 catcactgtg gtcctccagt taaggtagga gcttatggag gtcaggtaat taatggagtt
 ttagctcagg tctgatgtac agtgggtcca gtgggtctcc ggactcatcc tgtggtcatt
 tccccagtgc cagaatgctt gattggcata gacatactca gcatctggca gaacccccac
 attggctccc tgactggtag gatgaggact attttagtgg gaaaggccaa atggaagcca
 ttagagctgc ctctacctag aaaaatagta aatcaaaaac aatattgcat ccctggaggg
 attgtggaga ttagtgccac caacaaggac atgaaagaca caggggaggt gattctcacc
 acatccctgt tcaactctcc catttggtct gtgcagaaga cagatggatc ttggagaatg
 acagtggatt atcataagct taaccaagtg gtaactccaa ctgcagctgc tgtacttgta
 ccagatgtgg tttcattgct tgagcaaatc aacatatctc tggctacctg gtatgcagcc
 attgacttgg caaatacctt tttctccatt cctgtccata aagcccacca gaggcaattt
 accttcagct ggcaaggcca gcaatatacc ttcactgtcc tacctcaggg gtatagaaac
 tctctggctt tgtgtcataa tcttattcgg agagagacct tgattgcttt ttgcttctgc
 aagatatcac actggtccat tacatgatga cattatgttg attggatcca gtgagcaaga
 agtagcaaac acacgggact tattggtgag gcatttgcat gccagaggat gggaaataaa
 tccaactaaa atcagggatc ttctacctca gtaaaattgc taggggtcca gtggtgtggg
 acctgtcgag atattccttt taaggtaaag gataagttgc tgtatttggc ccctcctaca
 acaaaaaaga ggcacaacgc ctagcgggcc tatttggatt ttggaggcaa cacattcctc
 atttgggtgt gttactccag tgcatttatc aagtgacccg aaaggctgcc agttttgagt
 ggggtccaga acaggagaag gctctgcaac aggtccaggc tgctgtgcaa gctgctctgc
 cacttgggcc atatgatcca gcagatccaa tggtgtttaa ggtgtcagtc gccgacaggg
 atgctgtttg gagactttgg caggctccca taggtgaatc acagcagagg cttctaggat
 tttggagcaa ggccctgcca tcttctgcag ataactactc tccttttaag agacagctct
 tggcctgtta ctaagctttg gtggaaactg tacatttggc tatgggtcat caatgtgacc
 tgaactgcct atgtgacccg aactgcctat catgaactgg gtgctttctg acccatgtag
 ccataaagtg agtcgtgcac agcagcattt catcatcaaa tggaagtggc atatacggga
 ttgggcttga gcaggtcctg aaggcacaag taagttacat gaggaagtgg ctcaaatgcc
 catgatctcc actcctgcca tcctgccttc tcttccccag cctacaccga tggcctcatg
 gggagctccc tatgatcagt tgacaggaag agaagaccag ggcctggttc acagatggtt
 ctgcacaata cgcgggcacc acccgaaagt gcacagctgc agcactacag cccctttcta
 ggacatccct gaaggacagt ggtgaaggga aatcttccca gtgggcagaa cttcgagcag
 tgcacctggt tgtggacttt gcctggaagg agaaagacca gatgtgtgat tatatactga
 tttgtgggct gtagccagtg gtttggctgg atggtcaggg acttggaaga agcattattg
 gaaaattggt gacaaagaaa tttggggaag aggtatgtgg atggaaccct ctgagtggtc
 aaaaactgtg aagatatttg tatcccatgt gagtgctcac caacgggtga cctcagtgga
 agaggagttc aataatcaag tggatagaat gacccactct gtggacgcca ctcagcctct
 ttccccagcc acccctgtca ttgcccaatg tgcccatgaa caaagtggcc acggtggcag
 ggatggaggt tacgcattgg ctcagcaaca tggacttcca ctcaccaagg ctgacctggc
 tacggccact gctgagtgcc caatttgcca gcagcagaga ccaacactga gccctcgata
 tgtcaccatt cctcagggtg atcagccagc tacctggtgg caggttgatt atattggacc
 tcttccatca tggaaagggc agaggtttgt cctcactgga atagacactt actccagata
 tgggtttgcc tctcctgcac acaatgcttc tgccaaaact accacctgtg gactcacgga
 atggcttatc caccaccatc atggtattcc acacagcatt gcctctgacc aaggcactca
 ctttacagct aaagaagtgt ggcatgggct catgctcatg gaattcactg gtcttaccat
 gttccccatc atcctgaagc agctggattg atagaacggt ggaatggcct tttgaagtca
 caattacaac accaactagg tggcaatact ctgcaggact ggggcaaagt tctctagaag
 gccgtgtatg ctctgaatcg gcatccaata tatggtactc tttctcccat agccagaatt
 cacaggtcca ggaatcaagg ggcggaagtg gcaccaccca ccatcacccc tagtgatcca
 ctagcaaagt ttttgcttcc tgatcccacg acattacgtt ctgctggcct agaggtctta
 gttccagagg gaggaacgct gccaccagga gacacaacga ttccactaaa ctggaagtta
 aaattaccac ctggacactt tgagctcctc ctacctttaa gtcaacaggc taagaaggga
 gttacaatgc tggctggggt gaatgaccca gactatcaag atgaaaccag tctgctactc
 cacaatggag gtaaggaaga gtacgcatgg aatacaggag atccattagg gcatctctga
 gtattaccat gcactgtgat taagatcaat gggaaactac aacagcccaa tccaggcagg
 actacaaatg acccggaccc ttcaggaatg aaggtttgtg tcactccagc aggaaaaaaa
 ccacgacttg ctgaggtgcc tgctgaaggc aaacggaata cagaatgggt agtagaaggt
 agtcatcaat actagctatg accacgtgac cagctgcagc aatgaggact ataactgtca
 tgagtatttc ctccttcttt tgttaaacac atgtttgtgt acgtataccc ttgtactaag
 aaaatatctt cattttattt ccttttcctt tatcatgtga cataagattt attgtctgcg
 tatcagcatt taagcattg
 Y
 taactttata taatagtatt tgagttagag gttggtgcat ttctggttat atgaaggata
 gttgtggcca ggcatggtgg ctcacgcctg taatctcagc actttgggag gccgaggtgg
 gtggatcacc tgaggttggg agttcgagac aagcctgacc aacatggaga aaccccacta
 aacctctact aaaaatacaa aattagctgg gcgtggtggc acatgcctgt aatcccagct
 actcaggagg ctgaggcagg agaatcactt gaacccagga ggtggaggct gtggttagcc
 aagatcgtgc cattgcactc cagcctgggc aacaagagtg aaactgaatc taaaaaatta
 acgtttgagt cagcgggcta gggaaggcag atccaccctt aatctggtgg gtacaatcta
 atcagcttcc agtgaatata aagcaggtag aaaaacatgg aaaaggagag atgggcctag
 cctcccagcc tacatctttc tcccttgctg gatcttcctg cccttgaata ttagactcta
 agttcttcag ttctgggact cagactggct ctccttgctc ctcagcttgc agacagccta
 ttgtaggacc ttgtgatcat gtaagttaat acttaataaa ctcccctttg tgtgtgtgtg
 tatacatata tataatagga tatatatata tatataatag gatatatata tataatagga
 tatatatata tatatatata tatatatata tatcctatta gttctatccc tctaagagaa
 tcctgactaa tacTGCGAAA CTCTCCATTT CTAAGCCCAT AGCTTAGATC ATGGCCCAAA
 TAAAGCCAGT AAGTATCCAT CCCATTTCTC TGGCTCTGCT GATTGGTTCA GAGATGAGTA
 CACAGTCAAG CCTGTGGATT CAGAGTGAAT CTCAGATCTA AACAATCTTA CTCTGCCGCT
 ATGGACTAGA ATAGGggaga ctgctggggc catcttgtca ccaaatagag cataaaagtg
 aagccgacct aaaaacagca gggctgagag atagagacta agtcacaaca tgaacagagc
 ccttagatcc agccatacct gaaggctaca tagcctatgg accttctagt tacatgtgtc
 aataaattac ctttatattt aaaaacaaaa caaaacactt aggttgggtt acctgtcact
 tgtaaccaaC CATGAATCCC AATCACC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009775
dbSNP Blast Analysis

  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
ss119738863YRI 2IG 1.00000000 0.500000000.50000000
ss12199002HapMap-CEUEuropean 222IG0.009009010.306306300.684684690.200325000.162162150.83783782
HapMap-HCBAsian 86IG0.046511630.279069780.674418630.654721000.186046510.81395346
HapMap-JPTAsian 172IG0.104651160.441860470.453488381.000000000.325581400.67441863
HapMap-YRISub-Saharan African 226IG0.106194690.530973430.362831860.150222000.371681420.62831861
HAPMAP-ASW 98IG0.122448980.469387770.408163281.000000000.357142870.64285713
HAPMAP-CHBAsian 82IG0.097560970.341463420.560975610.438578000.268292700.73170733
HAPMAP-CHD 170IG0.082352940.400000010.517647091.000000000.282352950.71764708
HAPMAP-GIH 176IG0.022727270.193181810.784090940.479500000.119318180.88068181
HAPMAP-LWK 178IG0.258426960.460674170.280898870.479500000.488764050.51123595
HAPMAP-MKK 280IG0.035714290.385714290.578571440.273322000.228571430.77142859
HAPMAP-TSI 174IG0.057471260.333333340.609195410.751830000.224137930.77586210
ss133382747ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss1346827744EAS 1008AF 0.303600010.69639999
EUR 1006AF 0.186899990.81309998
AFR 1322AF 0.372899980.62709999
AMR 694AF 0.253600000.74640000
SAS 978AF 0.117600000.88239998
ss137565887ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss168737299CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss170960234YRISub-Saharan African 2IG 1.00000000 1.00000000
ss198748042BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss225986191pilot_1_YRI_low_coverage_panel 118AF 0.364406790.63559324
ss236106398pilot_1_CEU_low_coverage_panel 120AF 0.158333330.84166664
ss242630745pilot_1_CHB+JPT_low_coverage_panel 120AF 0.241666660.75833333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.380+/-0.2130000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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