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Reference SNP (refSNP) Cluster Report: rs1810636                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:92/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3836/1921 (1000 Genomes)
A=0.3535/44383 (TOPMED)
HGVS Names
  • CM000682.2:g.2674279A>C
  • CM000682.2:g.2674279A>T
  • NC_000020.10:g.2654925A>C
  • NC_000020.11:g.2674279A>C
  • NC_000020.11:g.2674279A>T
  • XR_937210.2:n.668-3839T>A
  • XR_937210.2:n.668-3839T>G
  • XR_937211.2:n.666-3696T>A
  • XR_937211.2:n.666-3696T>G
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 ss12476769 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1810636 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
ss2675094TSC-CSHL|TSC0193673fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg01/02/0110/10/0392Genomicunknown
ss5887662SC_JCM|NT_011387.7_2592982rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg01/10/0310/10/03111Genomicunknown
ss8363398SC_SNP|NT_011387.8_2594925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg04/17/0310/10/03114Genomicunknown
ss12476769WI_SSAHASNP|chr20.NT_011387.8_2594925byFreqrev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg07/04/0310/25/06116Genomicunknown
ss24526128PERLEGEN|afd0412218byFreqrev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg08/10/0409/13/04123Genomicunknown
ss41433523ABI|hCV11670646rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg07/17/0507/17/05126Genomicunknown
ss66772932ILLUMINA|HumanHap300v1.1_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg11/09/0611/09/06127Genomicunknown
ss67197424ILLUMINA|HumanHap550v1.1_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg11/14/0611/14/06127Genomicunknown
ss67586896ILLUMINA|HumanHap650Yv1.0_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg11/14/0611/14/06127Genomicunknown
ss69233582PERLEGEN|PGP00412218byFreqrev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg01/30/0708/14/07127Genomicunknown
ss70675637ILLUMINA|HumanHap550v3.0__rs1810636rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg04/20/0703/30/08130Genomicunknown
ss71238697ILLUMINA|HumanHap650Yv3.0_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg04/23/0704/23/07127Genomicunknown
ss75752732ILLUMINA|ILMN_Human_1M_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg08/28/0708/29/07129Genomicunknown
ss78658609HGSV|Cor12878_SNV_20070510.chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg10/17/0710/20/07129Genomicunknown
ss79094520ILLUMINA|HumanHap300v2.0_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg04/18/0711/18/07130Genomicunknown
ss83878936KRIBB_YJKIM|KHS563388fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg12/04/0712/06/07130Genomicunknown
ss86028990HGSV|Cor18517_SNV_20070510.chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg12/06/0712/11/07130Genomicunknown
ss91618232BCMHGSC_JDW|JWB-1411176rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg02/26/0803/02/08129Genomicunknown
ss1116210261000GENOMES|CEU.trio.12.15.2008_3647694_chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg12/17/0812/17/08130Genomicunknown
ss1153759911000GENOMES|NA19240_2008_12_16_3290321_chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg12/19/0812/19/08130Genomicunknown
ss117460997ILLUMINA-UK|NA18507_000004291_NCBI36.1_chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg01/19/0901/19/09131Genomic99 %
ss121815842ILLUMINA|HumanCNV370v1_C_rs1810636fwd/BG/Tcacctggcctctaaacaatttttttaaagcatgtgcttggtgagtgtgtcaggcaggtgg04/14/0904/14/09131Genomicunknown
ss138200038ENSEMBL|ENSSNP7160441rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg05/15/0905/17/09131Genomicunknown
ss143931899ENSEMBL|ENSSNP5447976rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg12/08/0810/17/09131Genomicunknown
ss153738795ILLUMINA|Human610_Quadv1_B_rs1810636-127_T_R_1501689326rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg06/18/0906/19/09131Genomicunknown
ss156087514GMI|GMI_SNP_22171rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg06/24/0906/24/09131Genomicunknown
ss167683552COMPLETE_GENOMICS|NA07022_36_chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg09/30/0909/30/09132Genomicunknown
ss168895754COMPLETE_GENOMICS|NA19240_36_chr20_2602925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg10/01/0910/01/09132Genomicunknown
ss170817858ILLUMINA|HumanCNV370-Quadv3_C_rs1810636-127_T_R_1501689326rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg10/01/0910/03/09132Genomicunknown
ss172928650ILLUMINA|Human1M-Duov3_B_rs1810636-127_T_R_1501689326rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg10/01/0910/02/09132Genomicunknown
ss203811232BUSHMAN|BUSHMAN-chr20-2602924rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg02/16/1003/09/10132Genomicunknown
ss2282229241000GENOMES|pilot_1_YRI_10032607_chr20_2602925rev/A/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg04/22/1004/22/10132Genomicunknown
ss2377387661000GENOMES|pilot_1_CEU_7343395_chr20_2602925rev/A/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg05/01/1005/01/10132Genomicunknown
ss2439303001000GENOMES|pilot_1_CHB+JPT_5815377_chr20_2602925rev/A/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg05/01/1005/01/10132Genomicunknown
ss283277069GMI|GMI_AK_SNP_7597490rev/A/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg12/16/1012/16/10137Genomicunknown
ss292564982PJP|SNP_2071340_chr20_2602925rev/A/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg01/21/1101/21/11134Genomicunknown
ss483447693ILLUMINA|HumanOmni2.5-4v1_D_kgp4935195-0_T_F_1805086702rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc01/30/1210/28/16137Genomicunknown
ss484176665ILLUMINA|HumanOmni2.5-4v1_B_SNP20-2602925-0_T_F_1620171393rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc01/30/1210/28/16137Genomicunknown
ss491557247EXOME_CHIP|.GWAS._273473_chr_20_2654925rev/TA/Cccacctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggccaggtg03/05/1203/06/12137Genomicunknown
ss535657981ILLUMINA|HumanOmni5-4v1_B_kgp4935195-0_T_F_1805086702rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc06/22/1208/29/15146Genomicunknown
ss566097155TISHKOFF|snp_chr20_2654925rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/22/1211/23/12138Genomicunknown
ss661966806SSMP|20_2654925rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc12/14/1202/14/15138Genomicunknown
ss780280957ILLUMINA|HumanOmni25Exome-8v1_A_kgp4935195-0_T_F_1805086702rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/30/1307/10/15142Genomicunknown
ss780682592ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/30/1307/10/15142Genomicunknown
ss782167203ILLUMINA|HumanOmni2.5-4v1_H_kgp4935195-0_T_F_1805086702rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/30/1307/29/15142Genomicunknown
ss783355946ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/31/1306/19/15142Genomicunknown
ss825425038ILLUMINA|HumanCNV370v1_C_rs1810636-126_T_R_IFB1136755264:0rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc06/24/1311/21/14144Genomicunknown
ss835767242ILLUMINA|HumanOmni2.5-8v1_A_kgp4935195-0_T_F_1805086702rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc09/18/1307/29/15142Genomicunknown
ss994478491EVA-GONL|EVA-GONL_rs1810636rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc04/23/1405/01/14142Genomicunknown
ss1082025846JMKIDD_LAB|HGDP_WGS_chr20_2654925rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc07/10/1407/12/14142Genomicunknown
ss13638430671000GENOMES|PHASE3_V1_77594984rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc08/16/1408/16/14142Genomicunknown
ss1428977664DDI|DDI_rs1810636rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/04/1411/04/14144Genomicunknown
ss1579411640EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1810636rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/19/1502/20/15144Genomicunknown
ss1638292068EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_20_2654925_42772685rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc03/04/1503/04/15144Genomicunknown
ss1681286101EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_20_2654925_42772685rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc03/04/1503/04/15144Genomicunknown
ss1698532665EVA_DECODE|EVA_DECODE_20_2602925_22438_rs1810636rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc03/02/1503/05/15144Genomicunknown
ss1713674418EVA_SVP|EVA_SVP_1368497rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc03/12/1503/12/15144Genomicunknown
ss1752382109ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/27/1506/09/15146Genomicunknown
ss1809394527HAMMER_LAB|Hsieh_8424787rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc07/15/1507/16/15146Genomicunknown
ss1917944122ILLUMINA|HumanExome-12v1-1_B_exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/16/1510/16/15147Genomicunknown
ss1937987485WEILL_CORNELL_DGM|SNV:chr20:2654925rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/16/1510/19/15147Genomicunknown
ss1946545410ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/29/1510/29/15147Genomicunknown
ss1959892830ILLUMINA|exm-rs1810636-131_T_R_1990489421rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/13/1511/13/15147Genomicunknown
ss1969076328GENOMED|rs1810636rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/16/1602/16/16147Genomicunknown
ss2029770348JJLAB|SNP10272903rev/TA/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc08/29/1608/31/16149Genomicunknown
ss2158324116USC_VALOUEV|NC_000020.10:g.2654925A>Crev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/17/1611/17/16150Genomicunknown
ss2240868643HUMAN_LONGEVITY|HLI-20-2674279-A-Crev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/18/1611/18/16150Genomicunknown
ss2407334186TOPMED|20_2654925_A/Crev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc11/19/1611/19/16150Genomicunknown
ss2629382716SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6555091rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc01/06/1701/06/17151Genomicunknown
ss2633768667ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp4935195-0_T_F_180508670rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/02/1702/02/17151Genomicunknown
ss2633768668ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1810636-131_T_R_18854739rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/02/1702/02/17151Genomicunknown
ss2633768669ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1810636-131_T_R_2130rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/02/1702/02/17151Genomicunknown
ss2703995652GRF|rs1810636rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc02/13/1702/13/17151Genomicunknown
ss2710932222ILLUMINA|Consortium-OncoArray_15047405_A_rs1810636-131_T_R_1885473952rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc03/22/1703/22/17151Genomicunknown
ss2964812265GNOMAD|rs1810636rev/A/C/Ttgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/23/1705/23/17151Genomicunknown
ss2985207732AFFY|Axiom_PsorMich_Affx-16561658rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/24/1705/24/17151Genomicunknown
ss3017775664SWEGEN|NC_000020.10:g.2654925A>Crev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc05/30/1705/30/17151Genomicunknown
ss3022094888ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1810636-131_T_R_1990489421rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc06/28/1706/28/17151Genomicunknown
ss3028717141BIOINF_KMB_FNS_UNIBA|20.2674279A>Crev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc07/05/1707/05/17151Genomicunknown
ss3352390619CSHL|rs1810636rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/02/1710/02/17151Genomicunknown
ss3353513530TOPMED|TOPMed_freeze_5?chr20:2,674,279-01rev/A/Ctgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/03/1710/03/17151Genomicunknown
ss3353513531TOPMED|TOPMed_freeze_5?chr20:2,674,279-02rev/A/Ttgcctgacacactcaccaagcacatgctttaaaaaaattgtttagaggcc10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1810636|allelePos=6012|totalLen=6732|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 AAAAAAAAAG AATCCCCTCT GCAAAattaa ccaacttcct catattttca acatttcttt
 taaaactttc tctcaccacc agccttaact gaaacctgaa tgacacctgt tatggaatga
 atgtttgtct cccttaaatg catatgttga aatcctaacc ccctaattaa ctgtatttgg
 agataaaggc tatgaggagg ccgggcgtgg tggcttacac ctataatccc aacactttgg
 gaggctgagg cgggcagatc atgaggccag gagattgaga ccatcctggc taacacagtg
 aaaccctgtc tctactataa atacaaaaaa ttagccgggc gtggtggcgg gcacctgtag
 tcccagctac ttaggaggct gaggcaggag aatcacttga acctgggagg cggaggttgc
 agtgagccga gatcacgcca ctgcactcca gcctggtgac agagcgagac tgtctcaaaa
 aaaaaaaaaa aaaaaaaaaa aaaaaaaaaa aaggctatga ggaggtgata aaggctgaaa
 tgataaaggt cataagggtg gatccctatc cgataggtct agtgccctta tgtgaagagg
 aagggacact aaaactctca atctccacta tgtgaggaca caatgagaaa gtgaccatgt
 gcaagccagg aagacagccc tcaccaggac ccaaatcaac tggtaccttg atctgcgact
 tcccagcctc cagaactctg agaaaataaa tttctgttgt tgaagccacc cagtctatgg
 cgttttgtga tggtaacctg agccaactaa gacaacatcc aaggatgcct ttttgcctaa
 ggcattctct agcagttact gtttattctc tttcacTTTG CTACATATAA ATATCTTGGA
 TTGTattttg ccctcctttc aagataagtt actttgttac tgtttcatga atgctggcag
 aagacaggag attcctagat tagagacaaa gcaaagcata ttaacacagc atagcaagta
 gcaaaagcac cctgtttgta tcagctcccc ttgttcccta agttccacaa ggaaaatggg
 aaggagcctt atggattctg tgcatgcact gggtttgtgc cccacgtgag gaacattgag
 cctggggaac cccctctttc atagacagca gtaagcaagt ctgctctttg tcctggagag
 agatattaac ctcattcctc aaggtggctt actgcaatgc acgaccctga gaaacagccc
 aggaaagagg ggtcagggcc ttgtagtctt ggcatactca gtaaaaatgt GCTGGGACGT
 TCAGGGCCTC TGACAGCTTT CCTCTCCCAA TAATTGACct tacacattct tggccaaagt
 ggaatattcc catgagtata ccactccatc tgccactcca atcaatctga tcaccctaga
 ctgggaccaa atttgctcaa tttgtctcat acagaattta ctaccaatag aacctcaagc
 aagatgaggc caaccaacag tattggcttc aacaatgcca cccggcgtct cagactcagt
 cacctgtgaa taagtctcaa ggggatcagt aggccttagt aggccaggat acagtctaag
 gccaggtcat tatccattac aacctgcata agtgagttct agactaatct actggtcctc
 aatgtcatcg ccagtaatta tatgaagtga tagatgggcc aaaagcaacc ctcatcccta
 atggagagac atcacatggc ccacatacaa acatacaccc aacaggttac gtgttacttg
 aattcagaat ttgttgttga ttctgatttg gattatcatt acactggttt ggtttagcca
 catggatggt gtcacctaac gcttgcatcc tcagacacca tacatgaacc aaagccacgt
 gggtgacagg aaaagtgcct gtgtttgtac caatcagaca aacaaggttg tgctggatgg
 tgtgtttgtg catgtatggg gtaaggggag gttccatatt tgggagctgc cattgatggc
 tggcaaaggc cacaactgaa tagccaggac tggccacctc cttatgaatt cccctgtttt
 catagcatgc aggcagcatg ataaatccag aaagggtaag actgtcagct gcagctgctg
 ctcaactcag atgaacgaga tgatggtttt tctaggtttc aatgctggat ctaggggaca
 aagagcacat tgatcattct ccactgtttg cacctgctgg catctaaggt gtcttctcgc
 aggcttcctg gctatgaaag cagcatatct cattccagta gccataactt catcatttct
 ccgatctttc cctactcata cccagacctt ttgtctgcta gagcgaggcg tgagtgagac
 aaggacattt ttacaaaatt tacagacatc cattgtatct cgcaccttgg cctatatgag
 ccagtgtgag agaacttggc aaggaatgta ctcaaccagt gtactcaatt tggcaagcaa
 ttgtattcaa tgagtacact gatctgggat caggttaatc tgtcaagaga atccaagtgg
 ctaaaccaga attagagata agtttgaatc ccctaagtcc ccttttgccg ggctgacacc
 tggagggtgc accaagcagg ctggtgtggg gttgctgttg ggttaggggt gggagaggaa
 agaaaaaaga agcaccatgc tcccaacttt tcagaataga tctatataac cctccacctg
 ttttcatcct gatcagtacc caggaagtgg ctgaaaggag atgatctttg gagatagctg
 cattcagtga tcatactgcc tcgctgaagt atgtggccca gaaggagttg atggaggtag
 tcagaagctt tggaggaggc cattccagtg ctcaataata ccagatacta gcagatggta
 gggagcctag catgtccatc gaatactttg actactggcc cattgttggg cggcttttgc
 aataaaaggt gcatcactgt cagactgtag gtggtctgag aatccaaaaa cttgacatga
 cttagtttca ggggccaaaa tagtgtgact ggggccccag actctattca gactagaaca
 gacaagaaca gcaacattgt aacctgaaaa cgttctgaca gaagtgaggc accaatgaca
 cagcctgggg agggggtcag ctatctgata tctggacaat catccaggag caactggggg
 caatactctg tgtgcaatgc ggcctccttc cctgcaagac aaatggctca aattttggga
 ggcaccacag ctctggtatg tagtggtgtc ttctgcatca gaaacacata gttgttttgt
 tgttgttgtt attgtttttt gagacagagt ctcactgtgc agtgatgcga tctcggctca
 ctgcaacttc tgccccccag gttcaagcga atctcctgcc tcagcctccc aagtaggtgg
 gattacaggc gcctgccacc acacctggct actttttgta gttttagtag agatggggtt
 tcaccatgtt ggccgggctg gtctcaaact cctgacgtca agtgatccgc ctgccttggc
 ctcccaaagt actaggatta caggtgtgag tcactgcgcc tggcctgaaa cagtttttga
 ttttgtgctc agtccacgat ggtgaatgtg ttgttatgtc ttgttcgatg acggatctag
 gtggtgatgg tggtggtatg ggcagtgaag tctggatcag cagcttgact acagtttgtc
 tcattagaga agggccctta ccatgggcat ctctgtgagt aacttgggca tctgattggc
 agctgaaatt atttccacaa tatgcagctg caatagggaa tgtctttaat cttccagtct
 tgtgggcaag atagctaggc cattggcaac cacacaaaag gcagtaaaaa tgtagaaggg
 ttcatcacgg ggagtattgg ccagaactat cagcactccc ttgagctctg tccattgagt
 ggagcagtca tgcttgcttt ttttaaaaaa ttattattta ttattatttt tttaaatttg
 agatggagtc tcgctctgtt gcctagactg gagtgcaatg gcgcgatctc ggctcactgc
 aacctccgcc tcctgagttc aagcaattct cttcccctag cctcccaagt agctgggatt
 acagatgcac gccaccacgc ccggctaatt tttgtatttt tagtagagac ggggtttcac
 cacgttgacc aggctgatct ggaactcctg acctcaagtg atccacccgc ctcggcctcc
 caaagtgctg ggattacagg cgtgagccac cacgcccagc ccatgcctgt ttttggttct
 gcatagctgg tgctgaggtt gaacgtggac actataaggt gtcagcctag ccaaaccatc
 attgtaccag gccaggtgcc tagggaaccc tctgtgactt gagggcccca ttgagccagc
 agctttgctt caagtggtga agttaggaaa agatttcccc tgaagggatt tttgctgcca
 ctttttcatg taaaacccag ctaatattag gaccaggcca gctgtgttac tgaatacagt
 atttccattg gattaataat gccttttgtg cccctccctt agtagccacc aaatccaagt
 tgacccatcc caaaatggga gtgtcagttt ggagagtcac aggaactttt tgggtcagta
 acaagttagt gggcaccttt ttaaaaaggg GATGGGggcc tggcatggtg tttcatgcct
 gtaatcccag cactttgaga ggccgaggag ggcaggtcgc ttgaggtcag gagttcaaga
 tcagcctggc caacatggtg aaactctgtc tctacttaaa aacaaccacc aaacaaaaaa
 gccaggtgtg gttgcgcatg cctgtagtcc cagttactcg ggaagctgag gcaggagaat
 agcttgaacc tgggaggtgg aggttgcagt gagctgagat catgccactg cactccagcc
 tggcagccgg ggagacagag caagactctg tctTaataaa ataaagtaaa ataaaataaa
 ataaaataaa ataaaataaa ataaaataaa aAAGAGGGGA TGGggccgga tgtggtggct
 caggcctgta gtcccagggc tttgggatta tggagggagg atcacttgaa gccaggagtt
 caagaccagc cttgggaaca aagcaagatc tcatctctac aaaaatgtat ttttaaaatt
 agctggcatg gtacgtggtg gcaggcacca agctactcag gaggctgagt ggggaggatt
 gcttgagccc aggagttcca ggctgcaatg agctgtgatt gtgccactgc attccagcct
 gggcgacaga gagagactgt ctcaaacaaa aaaGGGGGAT GGGGGAGGGA TGGGGCCAGG
 TGTGGTGGGA Tggaaggatc acctgagggc aaggagttta agaccagcct gagagaccac
 gtctatgaaa aattttgtaa aattagccgg gcatggtagc tcacagttgt cgttccagct
 gctcaggaca gtgaggtgag aggatggctt gagcccagga attcaagact gcagggggct
 ctgatggtgt cactgcactc tagcctgggt gacagaTCAG CAACCACTCT CTAAACAAtt
 tttttttttt taggccgagt ctcgctgtca cccaggctgg aacgcagtga cgtgatctca
 gctcaccaca acctccgcct cctgggctca agcaattctc ctatctcagc ctccggagta
 gctgagacta caggcgcatg ccatcatgcc cggctaattt ttgtattttt agtagagaca
 gggtttcacc atattggtca ggctggtctt gaactcctga cctcaggtga accacctgcc
 tcggcctccc aaagtgctgg gattacaggc gtgagccact gcacctggcc TCTAAACAAT
 TTTTTTAAAG C
 D
 ATGTGCTTGG TGAGTGTGTC AGGCAGGTGG TGCTATTGTG CTTGAGAACA GCCTCTGAGT
 AATCTGGCCA CCTTTGAGAC TAATTTTCAG ATTTCCCTTT TCCTTCCTGA tttttttttt
 ttttttttca gatggagtct tgctctgtcg cccaggctgg aatgcagtgg cacgatctcg
 gctcactaca acctcttcct cctgggttga agcgattctt ctacctcagc ctcctgagta
 gctgggatca caggcgcccg ccaccacggc cggctacttt ttgtattttt agtagagacc
 aggtttcacc atgttggcca ggctggtctc aaacacctga cctcgtcatc tcccagcctc
 agcctcccaa aatgctggga ttacaggcat gagccactgc acctggccTC CCTCTTGAAA
 GTCTAAACTG TTTCTCCTGG ACCATCTAAG AGGGTTCAGA AACcaccttt ccacatgtgg
 cagtctctga aagggcgaat cccatctgac acttatgggc attggcagta caggccggta
 tgagcatcaa taccagtaat acatttgcag tgaaagccac tgaattggcc caagggcccc
 acatggagcg ttacttaatt tgccttcttc cactgcaaac tttgctcaaa gcctatcagt
 tgaacttggg ggatttttta ccttcTGGGA AAACAAACCA AGGTGTTTAG TGTGTGCACA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011387.7
dbSNP Blast Analysis

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1810636 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceG
G/G
G/T
T
T/T
HWPG
T
ss117460997YRI 2IG 1.00000000 1.00000000
ss12476769HapMap-CEUEuropean 226IG 0.415929200.50442475 0.079646020.150222000.668141600.33185840
HapMap-HCBAsian 86IG 0.232558150.48837209 0.279069781.000000000.476744170.52325583
HapMap-JPTAsian 172IG 0.186046510.43023255 0.383720930.342782000.401162800.59883720
HapMap-YRISub-Saharan African 224IG 0.553571400.40178570 0.044642860.402784000.754464270.24553572
CHMJAsian 74IG0.56756759 0.43243244 0.567567590.43243244
HAPMAP-ASW 98IG 0.448979590.46938777 0.081632650.583882000.683673440.31632653
HAPMAP-CHBAsian 82IG 0.292682920.41463414 0.292682920.294266000.500000000.50000000
HAPMAP-CHD 170IG 0.282352950.45882353 0.258823540.479500000.511764710.48823529
HAPMAP-GIH 176IG 0.318181810.54545456 0.136363640.250592000.590909060.40909091
HAPMAP-LWK 178IG 0.629213510.33707866 0.033707860.751830000.797752800.20224719
HAPMAP-MEX 100IG 0.560000000.36000001 0.080000000.654721000.740000010.25999999
HAPMAP-MKK 282IG 0.695035460.27659574 0.028368791.000000000.833333310.16666667
HAPMAP-TSI 176IG 0.386363630.38636363 0.227272730.099721000.579545440.42045453
ss1363843067EAS 1008AF 0.463300020.53670001
EUR 1006AF 0.641200010.35879999
AFR 1322AF 0.715600010.28440002
AMR 694AF 0.678699970.32130000
SAS 978AF 0.570600030.42940000
ss138200038ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss143931899ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss167683552CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss168895754YRISub-Saharan African 2IG 1.00000000 1.00000000
ss203811232BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss228222924pilot_1_YRI_low_coverage_panel 118AF 0.728813590.27118644
ss237738766pilot_1_CEU_low_coverage_panel 120AF 0.666666690.33333334
ss243930300pilot_1_CHB+JPT_low_coverage_panel 120AF 0.500000000.50000000
ss24526128AFD_EUR_PANELEuropean 44IG 0.272727280.50000000 0.227272731.000000000.522727250.47727272
AFD_AFR_PANELAfrican American 42IG 0.571428600.38095239 0.047619051.000000000.761904780.23809524
AFD_CHN_PANELAsian 46IG 0.304347810.52173913 0.173913051.000000000.565217380.43478259
ss69233582HapMap-CEUEuropean 120IG 0.383333330.51666665 0.100000000.342782000.641666650.35833332
HapMap-HCBAsian 90IG 0.266666680.46666667 0.266666680.751830000.500000000.50000000
HapMap-JPTAsian 90IG 0.200000000.46666667 0.333333340.751830000.433333340.56666666
HapMap-YRISub-Saharan African 120IG 0.550000010.40000001 0.050000000.654721000.750000000.25000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.473+/-0.1130000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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