NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Attention: This page will be retired!
This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs6311                 ** With Likely benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:52/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
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:With Likely benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.4435/2221 (1000 Genomes)
T=0.4105/51545 (TOPMED)
HGVS Names
  • CM000675.2:g.46897343C>T
  • NC_000013.10:g.47471478C>T
  • NC_000013.11:g.46897343C>T
  • NG_013011.1:g.4692G>A
  • NM_000621.4:c.-998G>A
  • NM_001165947.2:c.-510G>A
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 ss281705525 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6311 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
ss7939WIAF-CSNP|WIAF-10850byFreqrev/TA/Gcaaacactgttggctttggatggaagtgccgacactcacagcactccgaggacatactgt07/15/9904/07/0452Genomicunknown
ss2099948TSC-CSHL|TSC0814682byFreqfwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg10/19/0004/07/0488Genomic95 %
ss5784016SC_JCM|NT_033922.2_5526454fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg01/10/0310/10/03111Genomicunknown
ss11056913BCM_SSAHASNP|chr13.NT_024524.12_16045970fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg07/01/0310/10/03116Genomicunknown
ss13329238SC_SNP|NT_024524.12_16045970fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg10/22/0310/31/03119Genomicunknown
ss17498388CSHL-HAPMAP|CSHL-HuCC-200402.chr13.NT_024524.13_28451479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg02/19/0403/04/04120Genomicunknown
ss19278078CSHL-HAPMAP|CSHL-HuDD-200402.chr13.NT_024524.13_28451479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg02/20/0403/04/04120Genomicunknown
ss21115889SSAHASNP|WGSA-200403-chr13.chr13.NT_024524.13_28451479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg03/19/0403/19/04121Genomicunknown
ss23991391PERLEGEN|afd2120007byFreqfwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg08/10/0409/13/04123Genomicunknown
ss51853939STEJUSTINE-REGGEN|10648_-1305fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg02/16/0602/16/06126Genomicunknown
ss67449420ILLUMINA|HumanHap550v1.1_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg11/14/0611/14/06127Genomicunknown
ss67800891ILLUMINA|HumanHap650Yv1.0_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg11/14/0611/14/06127Genomicunknown
ss68249902ILLUMINA|HumanHap250Sv1.0_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg12/06/0612/07/06127Genomicunknown
ss70861814ILLUMINA|HumanHap550v3.0__rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg04/20/0703/31/08130Genomicunknown
ss71449210ILLUMINA|HumanHap650Yv3.0_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg04/23/0704/23/07127Genomicunknown
ss75784706ILLUMINA|ILMN_Human_1M_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg08/28/0708/29/07129Genomicunknown
ss83347152KRIBB_YJKIM|KHS440072fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg12/04/0712/04/07130Genomicunknown
ss97156264HUMANGENOME_JCVI|1103649217533fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg03/28/0803/28/08130Genomicunknown
ss103118544BGI|BGI_rs6311fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg06/05/0806/17/09131Genomicunknown
ss1127598071000GENOMES|CEU.trio.12.15.2008_2893020_chr13_46369479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg12/18/0812/18/08130Genomicunknown
ss132226882ENSEMBL|ENSSNP881800fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg12/08/0810/15/09131Genomicunknown
ss154356844ILLUMINA|Human610_Quadv1_B_rs6311-128_B_F_1502237457fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg06/18/0906/20/09131Genomicunknown
ss159533108ILLUMINA|Human660W-Quad_v1_A_rs6311-128_B_F_1502237457fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg07/06/0907/07/09131Genomicunknown
ss160770133ILLUMINA|HumanOmni1-Quad_v1-0_B_rs6311-128_B_F_1502237457fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg08/04/0910/04/09131Genomicunknown
ss168060669COMPLETE_GENOMICS|NA07022_36_chr13_46369479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg09/30/0909/30/09132Genomicunknown
ss171132048COMPLETE_GENOMICS|NA20431_36_chr13_46369479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg10/01/0910/01/09132Genomicunknown
ss173992917ILLUMINA|Human1M-Duov3_B_rs6311-128_B_F_1502237457fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg10/01/0910/04/09132Genomicunknown
ss199176358BUSHMAN|BUSHMAN-chr13-46369478fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg02/16/1003/06/10132Genomicunknown
ss2114009691000GENOMES|YRI.trio.3.2010_1160891_chr13_46369479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg03/29/1003/30/10132Genomicunknown
ss2261737551000GENOMES|pilot_1_YRI_7983438_chr13_46369479fwd/C/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg04/22/1004/22/10132Genomicunknown
ss2362436101000GENOMES|pilot_1_CEU_5848239_chr13_46369479fwd/C/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg05/01/1005/01/10132Genomicunknown
ss2427420251000GENOMES|pilot_1_CHB+JPT_4627102_chr13_46369479fwd/C/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg05/01/1005/01/10132Genomicunknown
ss254991385BL|SNP37558_13_46369479fwd/BC/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg08/19/1008/19/10134Genomicunknown
ss281705525GMI|GMI_AK_SNP_6025914fwd/C/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg12/16/1012/16/10137Genomicunknown
ss291436716PJP|SNP_943074_chr13_46369479fwd/C/Tacagtatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagtgtttg01/21/1101/21/11134Genomicunknown
ss481230318ILLUMINA|HumanOmni2.5-4v1_B_rs6311-128_B_F_1617222145fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt01/30/1210/28/16137Genomicunknown
ss481253884ILLUMINA|HumanOmniExpress-12v1_C_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt01/30/1210/27/16137Genomicunknown
ss482240219ILLUMINA|HumanOmni1-Quad_v1-0_C_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt01/30/1208/28/15146Genomicunknown
ss485410505ILLUMINA|HumanOmni2.5-4v1_D_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt01/30/1210/27/16137Genomicunknown
ss537344692ILLUMINA|HumanOmni5-4v1_B_rs6311-131_B_F_1891323529fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt06/22/1208/29/15146Genomicunknown
ss563654829TISHKOFF|snp_chr13_47471478fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/22/1211/23/12138Genomicunknown
ss659257781SSMP|13_47471478fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt12/14/1202/13/15138Genomicunknown
ss778566866ILLUMINA|HumanOmni25Exome-8v1_A_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/30/1307/10/15146Genomicunknown
ss783150704ILLUMINA|HumanOmni2.5-4v1_H_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/30/1307/29/15146Genomicunknown
ss784106672ILLUMINA|HumanOmniExpressExome-8v1_A_rs6311-131_B_F_1891323529fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/31/1306/18/15146Genomicunknown
ss832409896ILLUMINA|HumanOmniExpress-12v1_H_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt09/17/1306/18/15146Genomicunknown
ss834023844ILLUMINA|HumanOmni2.5-8v1_A_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt09/18/1307/29/15146Genomicunknown
ss990366795EVA-GONL|EVA-GONL_rs6311fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt04/23/1404/25/14142Genomicunknown
ss1079068022JMKIDD_LAB|HGDP_WGS_chr13_47471478fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt07/10/1407/12/14142Genomicunknown
ss13481315871000GENOMES|PHASE3_V1_61230458fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt08/16/1408/16/14142Genomicunknown
ss1427181439DDI|DDI_rs6311fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/04/1411/04/14144Genomicunknown
ss1576773719EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6311fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt02/19/1502/19/15144Genomicunknown
ss1630233283EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_13_47471478_33887959fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt03/04/1503/04/15144Genomicunknown
ss1673227316EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_13_47471478_33887959fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt03/04/1503/04/15144Genomicunknown
ss1684889657EVA_DECODE|EVA_DECODE_13_46369479_227785_rs6311fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt03/02/1503/04/15144Genomicunknown
ss1713389819EVA_SVP|EVA_SVP_1084186fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt03/12/1503/12/15144Genomicunknown
ss1752106224ILLUMINA|OmniExpressExome-8v1-1_B_rs6311-131_B_F_1891323529fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/27/1506/09/15146Genomicunknown
ss1807600745HAMMER_LAB|Hsieh_6623456fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt07/15/1507/16/15146Genomicunknown
ss1933735295WEILL_CORNELL_DGM|SNV:chr13:47471478fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt10/16/1510/17/15147Genomicunknown
ss1959500160ILLUMINA|13:47471478-C-T-0_B_F_2304245197fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/13/1511/13/15147Genomicunknown
ss1967777566GENOMED|rs6311fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt02/16/1602/16/16147Genomicunknown
ss2027626970JJLAB|SNP8129525fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt08/29/1608/31/16149Genomicunknown
ss2094795217ILLUMINA|Immuno_BeadChip_11419691_B_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt09/27/1609/27/16150Genomicunknown
ss2095045201ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs6311-131_B_F_1862787325fwd/BC/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt09/27/1609/27/16150Genomicunknown
ss2155992846USC_VALOUEV|NC_000013.10:g.47471478C>Tfwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/17/1611/17/16150Genomicunknown
ss2196140100HUMAN_LONGEVITY|HLI-13-46897343-C-Tfwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/18/1611/18/16150Genomicunknown
ss2360268752TOPMED|13_47471478_C/Tfwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt11/19/1611/19/16150Genomicunknown
ss2628303786SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5180762fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt01/06/1701/06/17151Genomicunknown
ss2633061828ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs6311-131_B_F_1891323529fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt02/02/1702/02/17151Genomicunknown
ss2700372086GRF|rs6311fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt02/13/1702/13/17151Genomicunknown
ss2919384882GNOMAD|rs6311fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/23/1705/23/17151Genomicunknown
ss2985003440AFFY|Axiom_PsorMich_Affx-9411947fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/24/1705/24/17151Genomicunknown
ss2985639048AFFY|Axiom_Smokesc1_Affx-9411947fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/24/1705/24/17151Genomicunknown
ss3010982218SWEGEN|NC_000013.10:g.47471478C>Tfwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt05/30/1705/30/17151Genomicunknown
ss3021506826ILLUMINA|MEGA_Consortium_v2_15070954_A2_13:47471478-C-T-0_B_F_2304245197fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt06/28/1706/28/17151Genomicunknown
ss3027630728BIOINF_KMB_FNS_UNIBA|13.46897343C>Tfwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt07/05/1707/05/17151Genomicunknown
ss3192080710TOPMED|TOPMed_freeze_5?chr13:46,897,343fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt09/30/1709/30/17151Genomicunknown
ss3350444661CSHL|rs6311fwd/C/Tatgtcctcggagtgctgtgagtgtcggcacttccatccaaagccaacagt10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6311|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 GAGCCAGCTC CCGCACTGCT AGGATCCTGT TGGCTTCCTC TGGCACGGCT CGGCTGGGTT
 CCTCCCTCCC TGTGCGGCTC GCCTCAGCAG GCACACATTT AGAAATCATT CACGAGCCCC
 TCAAAGTCGC ACAAAAGAAC TGCATGGGAA AGTAGGAAGA GCTGTCTGCA CCAAGGGACT
 CCTGGTTTCC ACGGGAATGG AGTAGCTCTC TGACTGTCTC GTTCATTTCA TCAGACCTCC
 CTCTATGTGT ATGTCATAAG CTGCAAGGTA GCAACAGCCA GGAGGGCGGA CCAAACAGGC
 TTTTTCTTCT CCCTCTTTTT GCTACATATT AATATTGGGA AGTTTTCCTT TGCTTTTGAG
 AGAAACTGGA GAAATGGCCT TTTGTGCAGA TTCCCATTAA GGTAGGTAAG TGGCACTGTG
 GTAATTTTTT AGGCTGAAGG GTGAAGAGAG AACATAAATA AGGCTAGAAA ACAGTATGTC
 CTCGGAGTGC TGTGAGTGTC
 Y
 GGCACTTCCA TCCAAAGCCA ACAGTGTTTG TGTCCAGAGT GGAATTACTG ACATTGGCCA
 CATAGGCTCA GGGTGGCTAG GCACGTCTGT GGTGATAACT CTGATAAACT ATTAGCACTA
 TTTTTATTTA ATAGATACAC CATTGAACTG GCTTATTTTC TTCAGCAGAA ATATGCCACC
 CAGATATTAT TCAAAACCTC ACATGTGGTA GGAAATAAGT TGGTTTCGCA GTACCAATTT
 TTTTCCCCCA CCAGTAATGA CAACTTGCCT TACTTGTAAA GAAAGCCCTT TCCCAAGTAG
 GTTTCTAAAG GAGGCAGTTC GATCTCTCTC TTTTTGCAGG CATGAAAATA TTTTCCTCAA
 TAGTTGGGTT TTGCTACAGT TCTATCACCT TCTGTTCTTC ACATTCTCCC TGGACAAATT
 CAACCACTCT CATGCCTTCA ATATGTTTGT GGCCAAGTCT GTACCTTCAT AGCTGATTAT
 TTCTCTCAGT TCCAGACCTA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
S78723 ABBA01050995
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
ss132226882ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss1348131587EAS 1008AF 0.411699980.58829999
EUR 1006AF 0.562599960.43740001
AFR 1322AF 0.590799990.40920001
AMR 694AF 0.638300000.36170000
SAS 978AF 0.595099990.40489998
ss168060669CEUEuropean 2IG 1.00000000 1.00000000
ss171132048PGP 2IG 1.00000000 1.00000000
ss199176358BANTU 2IG 1.00000000 0.500000000.50000000
ss2099948HapMap-CEUEuropean 226IG0.274336280.522123870.203539820.654721000.535398240.46460176
HapMap-HCBAsian 86IG0.302325580.418604640.279069780.294266000.511627910.48837209
HapMap-JPTAsian 170IG0.223529410.505882380.270588251.000000000.476470590.52352941
HapMap-YRISub-Saharan African 226IG0.362831860.486725660.150442481.000000000.606194670.39380530
HAPMAP-ASW 98IG0.265306120.510204080.224489791.000000000.520408150.47959185
HAPMAP-CHBAsian 82IG0.219512190.463414640.317073170.751830000.451219500.54878050
HAPMAP-CHD 170IG0.129411770.588235320.282352950.099721000.423529420.57647061
HAPMAP-GIH 176IG0.329545470.522727250.147727270.479500000.590909060.40909091
HAPMAP-LWK 180IG0.433333340.477777780.088888890.438578000.672222200.32777777
HAPMAP-MEX 100IG0.380000000.479999990.140000001.000000000.620000000.38000000
HAPMAP-MKK 286IG0.468531460.461538460.069930070.250592000.699300710.30069929
HAPMAP-TSI 176IG0.238636360.522727250.238636360.751830000.500000000.50000000
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss226173755pilot_1_YRI_low_coverage_panel 118AF 0.576271180.42372882
ss236243610pilot_1_CEU_low_coverage_panel 120AF 0.550000010.44999999
ss23991391AFD_EUR_PANELEuropean 46IG0.347826090.434782590.217391300.583882000.565217380.43478259
AFD_AFR_PANELAfrican American 46IG0.434782590.304347810.260869560.099721000.586956500.41304347
AFD_CHN_PANELAsian 48IG0.125000000.625000000.250000000.200325000.437500000.56250000
ss242742025pilot_1_CHB+JPT_low_coverage_panel 120AF 0.491666670.50833333
ss7939WIAF-CSNP-POP1 74AF 0.675000010.32499999
ss97156264J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.494+/-0.0560000

  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_SSAHASNPNCBI
UNKNOWNYESUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement