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Reference SNP (refSNP) Cluster Report: rs731236                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (REV)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:G=0.3338/40509 (ExAC)
G=0.2766/1385 (1000 Genomes)
G=0.3554/4622 (GO-ESP)
G=0.3237/40649 (TOPMED)
HGVS Names
  • CM000674.2:g.47844974A>G
  • NC_000012.11:g.48238757A>G
  • NC_000012.12:g.47844974A>G
  • NG_008731.1:g.65058T>C
  • NM_000376.2:c.1056T>C
  • NM_001017535.1:c.1056T>C
  • NM_001017536.1:c.1206T>C
  • NP_000367.1:p.Ile352=
  • NP_001017535.1:p.Ile352=
  • NP_001017536.1:p.Ile402=
  • XP_006719650.1:p.Ile352=
  • XP_011537022.1:p.Ile352=
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 ss286557561 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs731236 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
ss76497TSC-CSHL|TSC0019175byFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca09/06/0005/16/0486Genomic95 %
ss2420961HGBASE|SNP000008184fwd/BC/Tctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtcca11/07/0010/10/0389Genomicunknown
ss5586953SNP500CANCER|VDR-01byFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcrctgatgaggccatccaggaccgcctgtccaacaca09/26/0204/07/04116Genomicunknown
ss12216651WI_SSAHASNP|chr12.NT_029419.10_10382063rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga07/04/0310/10/03116Genomicunknown
ss12568608CUORCGL|SNP41byFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca07/08/0310/25/06117Genomicunknown
ss14739713SC_SNP|NT_029419.10_10382063rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga11/12/0311/22/03119Genomicunknown
ss16359245EGP_SNPS|VDR-061968byFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca01/23/0404/07/04120Genomicunknown
ss20420895JDRF_WT_DIL|DIL1339fwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca02/26/0403/04/04121Genomicunknown
ss24395756PERLEGEN|afd0888272byFreqrev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga08/10/0409/13/04123Genomicunknown
ss32465678ERASMUSMC-GLIM|E9-T32C-codon352-TaqIbyFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca11/22/0411/02/06126Genomicunknown
ss38908577ABI|hCV2404008rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga07/16/0507/16/05126Genomicunknown
ss65743935ILLUMINA|Human1-rs731236fwd/TC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca10/10/0610/10/06127Genomicunknown
ss68316101EILEEN|VDRTaqI_RS731236fwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca12/07/0612/07/06127Genomicunknown
ss74882784ILLUMINA|ILMN_Human_1M_rs731236fwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca08/28/0708/29/07129Genomicunknown
ss80755731KRIBB_YJKIM|KHS1001670byFreqfwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca11/26/0709/05/14130Genomicunknown
ss86241970CORNELL|hCV2404008byFreqrev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga01/21/0809/05/14129Genomicunknown
ss86343777CANCER-GENOME|14218rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga01/25/0801/25/08129Genomicunknown
ss89137833BCMHGSC_JDW|JWB-0556365rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga02/26/0802/28/08129Genomicunknown
ss119365123KRIBB_YJKIM|KHS1527370fwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca02/04/0902/04/09131Genomicunknown
ss133153445ENSEMBL|ENSSNP6094385rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga05/11/0905/14/09131Genomicunknown
ss159726127SEATTLESEQ|VDR-46525024rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga07/10/0907/10/09131Genomicunknown
ss160871589ILLUMINA|HumanOmni1-Quad_v1-0_B_rs731236-128_T_R_1513910456rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga08/04/0910/04/09131Genomicunknown
ss174334971ILLUMINA|Human1M-Duov3_B_rs731236-128_T_R_1513910456rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga10/01/0910/04/09132Genomicunknown
ss175117861COMPLETE_GENOMICS|NA20431_36_chr12_46525024rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga10/01/0910/05/09132Genomicunknown
ss198140414BUSHMAN|BUSHMAN-chr12-46525023byFreqrev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga02/16/1009/05/14132Genomicunknown
ss208325743BCM-HGSC-SUB|BCM_CMT_1011-2402959rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga03/15/1003/19/10132Genomicunknown
ss2108170361000GENOMES|CEU.trio.3.2010_121249_chr12_46525024rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga03/29/1003/29/10132Genomicunknown
ss2112799051000GENOMES|YRI.trio.3.2010_1100218_chr12_46525024rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga03/29/1003/30/10132Genomicunknown
ss2257418311000GENOMES|pilot_1_YRI_7551514_chr12_46525024rev/A/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga04/22/1004/22/10132Genomicunknown
ss2359268651000GENOMES|pilot_1_CEU_5531494_chr12_46525024rev/A/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga05/01/1005/01/10132Genomicunknown
ss2424880331000GENOMES|pilot_1_CHB+JPT_4373110_chr12_46525024rev/A/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga05/01/1005/01/10132Genomicunknown
ss244309162ILLUMINA|CVDSNP55v1_A_rs731236rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga06/10/1006/10/10132Genomicunknown
ss286557561GMI|GMI_NA10851_SNP_2570352rev/A/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga12/17/1012/17/10138Genomicunknown
ss342354324NHLBI-ESP|ESP2500-chr12-48238757byFreqrev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga03/25/1109/05/14134Genomicunknown
ss469996522PAGE_STUDY|PAGE_CALiCo_Y2_rs731236fwd/BC/Ttcgtcctggggtgcaggacgccgcgctgatgaggccatccaggaccgcctgtccaacaca10/04/1110/04/11137Genomicunknown
ss481541541ILLUMINA|HumanOmni2.5-4v1_B_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag01/30/1210/28/16137Genomicunknown
ss481570547ILLUMINA|HumanOmniExpress-12v1_C_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag01/30/1210/27/16137Genomicunknown
ss482543948ILLUMINA|HumanOmni1-Quad_v1-0_C_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag01/30/1208/28/15146Genomicunknown
ss485565762ILLUMINA|HumanOmni2.5-4v1_D_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag01/30/1210/27/16137Genomicunknown
ss4910406731000GENOMES|20110521_exome_548471_chr12_48238757rev/TA/Gtgtgttggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccaggacga02/10/1202/22/12137Genomicunknown
ss491663924CLINSEQ_SNP|SNV-chr12-46525024byFreqrev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/06/1209/05/14137Genomicunknown
ss537462688ILLUMINA|HumanOmni5-4v1_B_rs731236-128_T_R_1908529601rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag06/22/1208/29/15146Genomicunknown
ss563151808TISHKOFF|snp_chr12_48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/22/1211/23/12138Genomicunknown
ss658704745SSMP|12_48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag12/14/1202/13/15138Genomicunknown
ss778600539ILLUMINA|HumanOmni25Exome-8v1_A_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/30/1307/10/15146Genomicunknown
ss783228428ILLUMINA|HumanOmni2.5-4v1_H_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/30/1307/29/15146Genomicunknown
ss784182648ILLUMINA|HumanOmniExpressExome-8v1_A_rs731236-128_T_R_1908529601rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/31/1306/18/15146Genomicunknown
ss832488800ILLUMINA|HumanOmniExpress-12v1_H_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/17/1306/18/15146Genomicunknown
ss834057824ILLUMINA|HumanOmni2.5-8v1_A_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/18/1307/29/15146Genomicunknown
ss974483343JMKIDD_LAB|KhoeSan_Exomes_chr12_48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/06/1403/06/14142Genomicunknown
ss989508319EVA-GONL|EVA-GONL_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag04/23/1404/25/14142Genomicunknown
ss1067533218JMKIDD_LAB|HGDP_exomes_chr12_48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag07/09/1407/09/14142Genomicunknown
ss1078444304JMKIDD_LAB|HGDP_WGS_chr12_48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag07/10/1407/12/14142Genomicunknown
ss13449139771000GENOMES|PHASE3_V1_57872754rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag08/16/1408/16/14142Genomicunknown
ss1397633434HAMMER_LAB|HAMMER_LAB_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/30/1409/30/14146Genomicunknown
ss1426926728DDI|DDI_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/04/1411/04/14144Genomicunknown
ss1576268438EVA_GENOME_DK|EVA_GENOME_DK_snv_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag02/19/1502/19/15144Genomicunknown
ss1584081433EVA_FINRISK|EVA_FINRISK_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag02/27/1502/27/15144Genomicunknown
ss1599178741EVA_DECODE|EVA_DECODE_12_46525024_358164_rs731236rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/02/1503/04/15144Genomicunknown
ss1628540160EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_48238757_32018482rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/04/1503/04/15144Genomicunknown
ss1671534193EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_48238757_32018482rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/04/1503/04/15144Genomicunknown
ss1690872933EVA_EXAC|EVA_EXAC_6097155rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/04/1503/04/15144Genomicunknown
ss1711328072EVA_MGP|EVA_XIMO_443832rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/09/1503/09/15144Genomicunknown
ss1713325787EVA_SVP|EVA_SVP_1020154rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag03/12/1503/12/15144Genomicunknown
ss1752069124ILLUMINA|OmniExpressExome-8v1-1_B_rs731236-128_T_R_1908529601rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/27/1506/09/15146Genomicunknown
ss1807234224HAMMER_LAB|Hsieh_6255485rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag07/15/1507/16/15146Genomicunknown
ss1932872881WEILL_CORNELL_DGM|SNV:chr12:48238757rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag10/16/1510/17/15147Genomicunknown
ss1959431957ILLUMINA|12:48238757-A-G-0_T_F_2304289899rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/13/1511/13/15147Genomicunknown
ss2027187806JJLAB|SNP7690361rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag08/29/1608/30/16149Genomicunknown
ss2094793385ILLUMINA|Immuno_BeadChip_11419691_B_rs731236-128_T_R_1615266153rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/27/1609/27/16150Genomicunknown
ss2095034753ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs731236-138_T_R_2258079507rev/TA/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/27/1609/27/16150Genomicunknown
ss2155523374USC_VALOUEV|NC_000012.11:g.48238757A>Grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/17/1611/17/16150Genomicunknown
ss2189575466HUMAN_LONGEVITY|HLI-12-47844974-A-Grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/18/1611/18/16150Genomicunknown
ss2353507935TOPMED|12_48238757_A/Grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag11/19/1611/19/16150Genomicunknown
ss2628073749SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4890438rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag01/06/1701/06/17151Genomicunknown
ss2632956191ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs731236-128_T_R_190852960rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag02/02/1702/02/17151Genomicunknown
ss2699866169GRF|rs731236rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag02/13/1702/13/17151Genomicunknown
ss2739762403GNOMAD|exomes_rs731236rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/17/1705/17/17151Genomicunknown
ss2748852328GNOMAD|coding_rs731236rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/17/1705/17/17151Genomicunknown
ss2910200516GNOMAD|rs731236rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/22/1705/22/17151Genomicunknown
ss2984973696AFFY|Axiom_PsorMich_Affx-8091788rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/24/1705/24/17151Genomicunknown
ss2985615942AFFY|Axiom_Smokesc1_Affx-8091788rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/24/1705/24/17151Genomicunknown
ss3009644027SWEGEN|NC_000012.11:g.48238757A>Grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag05/30/1705/30/17151Genomicunknown
ss3021427636ILLUMINA|MEGA_Consortium_v2_15070954_A2_12:48238757-A-G-0_T_F_2304289899rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag06/28/1706/28/17151Genomicunknown
ss3023067748EVA_SAMSUNG_MC|EXOMES.12:g48238757a>grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag07/03/1707/03/17151Genomicunknown
ss3027402142BIOINF_KMB_FNS_UNIBA|12.47844974A>Grev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag07/05/1707/05/17151Genomicunknown
ss3170201336TOPMED|TOPMed_freeze_5?chr12:47,844,974rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag09/30/1709/30/17151Genomicunknown
ss3350053056CSHL|rs731236rev/A/Gtggacaggcggtcctggatggcctcatcagcgcggcgtcctgcaccccag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs731236|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AATAGAAGGA GGGAAGCTGA CGTGGTCTGG GCTACAGAGG TAGAGTGTTG CCAGGAATGG
 CCTTTTGGAG GAAGACCTTT TAAGCTGTTA TCCAAAGGAT CAGTAAGAGT CTGGCAAAGA
 TAGCAGAGCA GAGTTCCAAG CAGAGGGAGC ACAGATGTGA AGGCTGGTGG CCAGAGAGCA
 TGGCGCATCG GGACGCTGAG GGATGGACAG AGCATGGACA GGGAGCAAGG CCAGGCAGGG
 ACAGGGCCAG GTGCGCCCAT GGAAGGACCT AGGTCTGGAT CCTAAATGCA CGGAGAAGTC
 ACTGGAGGGC TTTGGGGCCA GGCAGTGGTA TCACCGGTCA GCAGTCATAG AGGGGTGGCC
 TAGGGGGTGC TGCCGTTGAG TGTCTGTGTG GGTGGGGGGT GGTGGGATTG AGCAGTGAGG
 GGCCCAGCTG AGAGCTCCTG TGCCTTCTTC TCTATCCCCG TGCCCACAGA TCGTCCTGGG
 GTGCAGGACG CCGCGCTGAT
 Y
 GAGGCCATCC AGGACCGCCT GTCCAACACA CTGCAGACGT ACATCCGCTG CCGCCACCCG
 CCCCCGGGCA GCCACCTGCT CTATGCCAAG ATGATCCAGA AGCTAGCCGA CCTGCGCAGC
 CTCAATGAGG AGCACTCCAA GCAGTACCGC TGCCTCTCCT TCCAGCCTGA GTGCAGCATG
 AAGCTAACGC CCCTTGTGCT CGAAGTGTTT GGCAATGAGA TCTCCTGACT AGGACAGCCT
 GTGGCGGTGC CTGGGTGGGG CTGCTCCTCC AGGGCCACGT GCCAGGCCCG GGGCTGGCGG
 CTACTCAGCA GCCCTCCTCA CCCCGTCTGG GGTTCAGCCC CTCCTCTGCC ACCTCCCCTA
 TCCACCCAGC CCATTCTCTC TCCTGTCCAA CCTAACCCCT TTCCTGCGGG CTTTTCCCCG
 GTCCCTTGAG ACCTCAGCCA TGAGGAGTTG CTGTTTGTTT GACAAAGAAA CCCAAGTGGG
 GGCAGAGGGC AGAGGCTGGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029419
dbSNP Blast Analysis
UniGene Cluster ID
524368
3D structure mapping
NP_000367  NP_001017535  NP_001017536  

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs731236 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss12568608American Caucasians 1859AF 0.407999990.59199995
ss133153445ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss1344913977EAS 1008AF 0.067500000.93250000
EUR 1006AF 0.399600000.60039997
AFR 1322AF 0.285200000.71480000
AMR 694AF 0.255000000.74500006
SAS 978AF 0.369100000.63090003
ss16359245PDR90Global 144IG0.069444450.375000000.555555581.000000000.256944450.74305558
ss1690872933ExAc_Aggregated_Populations121410AF 0.333695740.66630423
ss175117861PGP 2IG1.00000000 1.00000000
ss198140414BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss225741831pilot_1_YRI_low_coverage_panel 118AF 0.271186440.72881359
ss235926865pilot_1_CEU_low_coverage_panel 120AF 0.441666660.55833334
ss242488033pilot_1_CHB+JPT_low_coverage_panel 120AF 0.083333340.91666669
ss24395756AFD_EUR_PANELEuropean 48IG0.125000000.458333340.416666661.000000000.354166660.64583331
AFD_AFR_PANELAfrican American 46IG0.043478260.391304340.565217380.751830000.239130440.76086956
AFD_CHN_PANELAsian 48IG 0.083333340.916666691.000000000.041666670.95833331
ss32465678VDR-seq 30AF 0.330000010.67000002
VDR-LD-Caucasian 468AF 0.430000010.56999999
VDR-LD-Chinese 214AF 0.080000000.92000002
VDR-LD-African 116AF 0.310000000.69000000
ss342354324ESP_Cohort_Populations 4540GF0.126872240.449779750.423348010.527089000.351762120.64823788
ss491663924CSAgilent 1251GF0.165999990.470999960.363000010.654721000.401499990.59850001
ss5586953P1 198AF0.141000000.393999990.465000000.250592000.338000030.66200000
CAUC1 58AF0.241000000.483000010.275999991.000000000.483000010.51700002
AFR1 48AF0.083000000.542000000.375000000.371093000.354000000.64600003
HISP1 46AF0.174000010.348000020.477999990.273322000.347999990.65200001
PAC1 46AF0.043000010.174000010.782999990.273322000.130000000.87000000
ss76497CEPH 184AF 0.360000040.63999999
HapMap-CEUEuropean 226IG0.221238940.433628320.345132740.250592000.438053100.56194693
HapMap-HCBAsian 84IG 0.023809520.976190451.000000000.011904760.98809522
HapMap-JPTAsian 170IG 0.235294120.764705900.583882000.117647060.88235295
HapMap-YRISub-Saharan African 226IG0.056737590.475177320.468085110.099721000.287610620.71238941
SOUTH_AFRICAN_CAPE_COLOURED 1202IG0.068219630.389351070.542429271.000000000.262895170.73710483
HAPMAP-ASW 98IG0.037735850.396226410.566037710.438578000.224489790.77551019
HAPMAP-CHBAsian 82IG 0.121951220.878048781.000000000.060975610.93902439
HAPMAP-CHD 170IG 0.082352940.917647061.000000000.041176470.95882350
HAPMAP-GIH 176IG0.068181820.454545470.477272720.402784000.295454530.70454544
HAPMAP-LWK 180IG0.100000000.344444450.555555580.250592000.272222220.72777778
HAPMAP-MEX 100IG0.064935070.389610380.545454561.000000000.259999990.74000001
HAPMAP-MKK 286IG0.146853150.573426540.279720280.050043000.433566420.56643355
HAPMAP-TSI 174IG0.172413800.482758610.344827591.000000000.413793120.58620691
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss80755731KHP1 172AF 0.081395350.918604670.751830000.040697680.95930231
KHP_Korean 172IG 0.081395350.918604671.000000000.040697680.95930231
ss86241970AGI_ASP_populationmultiple 32IG0.250000000.062500000.687500000.000999000.281250000.71875000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.445+/-0.1570000

  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: PERLEGEN
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNYES

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