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Search small variations in dbSNP or large structural variations in dbVar
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Reference SNP (refSNP) Cluster Report: rs1385699                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:88/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
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:NA
MAF/MinorAlleleCount:C=0.2012/16104 (ExAC)
C=0.3346/1263 (1000 Genomes)
C=0.4401/4649 (GO-ESP)
C=0.3810/47842 (TOPMED)
HGVS Names
  • CM000685.2:g.66605144C>T
  • NC_000023.10:g.65824986C>T
  • NC_000023.11:g.66605144C>T
  • NG_013271.2:g.39123G>A
  • NM_001199687.2:c.170G>A
  • NM_001242310.1:c.170G>A
  • NM_001324199.1:c.72-2347G>A
  • NM_001324201.1:c.154G>A
  • NM_001324202.1:c.72-2347G>A
  • NM_001324204.1:c.56-2347G>A
  • NM_001324205.1:c.56-2347G>A
  • NM_001324206.1:c.170G>A
  • NM_021783.4:c.170G>A
  • NP_001186616.1:p.Arg57Lys
  • NP_001229239.1:p.Arg57Lys
  • NP_001311130.1:p.Asp52Asn
  • NP_001311135.1:p.Arg57Lys
  • NP_068555.1:p.Arg57Lys
  • NR_136726.1:n.278G>A
  • NR_136727.1:n.280G>A
  • XP_005262340.1:p.Arg57Lys
  • XP_005262341.1:p.Arg57Lys
  • XP_011529302.1:p.Arg57Lys
  • XP_011529303.1:p.Arg57Lys
  • XP_011529304.1:p.Arg57Lys
  • XP_011529305.1:p.Arg57Lys
  • XP_011529306.1:p.Arg57Lys
  • XP_011529308.1:p.Arg57Lys
  • XP_011529309.1:p.Arg57Lys
  • XP_016885192.1:p.Asp52Asn
  • XP_016885193.1:p.Arg57Lys
  • XP_016885195.1:p.Arg57Lys
  • XR_244498.1:n.272G>A
  • XR_244499.1:n.280G>A
  • XR_938405.2:n.270G>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 ss283769335 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1385699 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
ss2177567TSC-CSHL|TSC0550824byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc10/19/0004/07/0488Genomic95 %
ss19817961CSHL-HAPMAP|CSHL-HuDD-200402.chrX.NT_011669.14_4142974byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc02/20/0408/05/04120Genomicunknown
ss20392807CSHL-HAPMAP|CSHL-HuFF-200402.chrX.NT_011669.14_4142974fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc02/21/0403/04/04120Genomicunknown
ss43596569ABI|hCV1520051byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc07/18/0511/03/06126Genomicunknown
ss46556914PERLEGEN|PS03355463fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc08/01/0508/01/05126Genomicunknown
ss66671405ILLUMINA|HumanHap300v1.1_rs1385699fwd/TC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc11/09/0611/09/06127Genomicunknown
ss67092045ILLUMINA|HumanHap550v1.1_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc11/14/0611/14/06127Genomicunknown
ss67426139ILLUMINA|HumanHap650Yv1.0_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc11/14/0611/14/06127Genomicunknown
ss69262061PERLEGEN|PGP03355463byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc01/30/0708/14/07127Genomicunknown
ss70428235ILLUMINA|HumanHap300v2.0_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc04/18/0711/18/07127Genomicunknown
ss70611791ILLUMINA|HumanHap550v3.0__rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc04/20/0703/30/08130Genomicunknown
ss71159295ILLUMINA|HumanHap650Yv3.0_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc04/23/0704/23/07127Genomicunknown
ss74807861AFFY|SNP_M-179096fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc08/09/0708/09/07128Genomicunknown
ss75586590ILLUMINA|ILMN_Human_1M_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc08/28/0708/29/07129Genomicunknown
ss76888603SI_EXO|NT_011669.16_4142974byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc09/20/0709/05/14129Genomicunknown
ss77750912HGSV|Cor12156_SNV_20070510.chrX_65608007fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc10/09/0710/14/07129Genomicunknown
ss83749068KRIBB_YJKIM|KHS534112fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc12/04/0712/05/07130Genomicunknown
ss84094207HGSV|Cor18555_SNV_20070510.chrX_65608007fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc11/27/0712/06/07130Genomicunknown
ss86347935CANCER-GENOME|8373fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc01/25/0801/25/08129Genomicunknown
ss94297827BCMHGSC_JDW|JWB-2682245fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc02/26/0803/06/08129Genomicunknown
ss105735946BGI|BGI_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc09/10/0806/19/09130Genomicunknown
ss1129046661000GENOMES|CEU.trio.12.15.2008_3872001_chrX_65741711fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc12/18/0812/18/08130Genomicunknown
ss121672017ILLUMINA|HumanCNV370v1_C_rs1385699fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc04/14/0904/14/09131Genomicunknown
ss144650582ENSEMBL|ENSSNP7184796fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc06/05/0906/07/09131Genomicunknown
ss153405544ILLUMINA|Human610_Quadv1_B_rs1385699-127_B_F_1501661111fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc06/18/0906/19/09131Genomicunknown
ss157511005GMI|GMI_SNP_73097764fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc06/24/0906/25/09131Genomicunknown
ss159263440ILLUMINA|Human660W-Quad_v1_A_rs1385699-128_B_F_1501661111fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc07/06/0907/06/09131Genomicunknown
ss159745435SEATTLESEQ|EDA2R-65741711fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc07/10/0907/10/09131Genomicunknown
ss160345524ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1385699-128_B_F_1501661111fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc08/04/0910/02/09131Genomicunknown
ss161801160ENSEMBL|ENSSNP3145763byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc09/24/0903/07/10131Genomicunknown
ss163132313COMPLETE_GENOMICS|NA07022_36_chrX_65741711fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc09/29/0909/29/09132Genomicunknown
ss166278951COMPLETE_GENOMICS|NA20431_36_chrX_65741711fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc09/30/0909/30/09132Genomicunknown
ss170444948ILLUMINA|HumanCNV370-Quadv3_C_rs1385699-127_B_F_1501661111fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc10/01/0910/03/09132Genomicunknown
ss172461561ILLUMINA|Human1M-Duov3_B_rs1385699-127_B_F_1501661111fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc10/01/0910/02/09132Genomicunknown
ss208896134BCM-HGSC-SUB|BCM_CMT_1011-3351569fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc03/15/1003/20/10132Genomicunknown
ss256017930BL|SNP22482_X_65741711fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc08/20/1008/20/10134Genomicunknown
ss283769335GMI|GMI_AK_SNP_8089816fwd/C/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc12/16/1012/16/10137Genomicunknown
ss287616639GMI|GMI_NA10851_SNP_3629459fwd/C/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc12/17/1012/17/10138Genomicunknown
ss294456917PJP|SNP_3963275_chrX_65741711fwd/C/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc01/21/1101/21/11134Genomicunknown
ss3415248701000GENOMES|20100804_snps_276574_chrX_65824986fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc03/24/1103/24/11134Genomicunknown
ss342554773NHLBI-ESP|ESP2500-chrX-65824986byFreqfwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc03/25/1109/05/14134Genomicunknown
ss479951178ILLUMINA|HumanOmni2.5-4v1_B_rs1385699-128_B_F_1773158738fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta01/30/1210/29/16137Genomicunknown
ss479959560ILLUMINA|HumanOmniExpress-12v1_C_rs1385699-131_B_F_1857568257fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta01/30/1210/27/16137Genomicunknown
ss480600102ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1385699-131_B_F_1865593714fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta01/30/1208/28/15146Genomicunknown
ss484773851ILLUMINA|HumanOmni2.5-4v1_D_rs1385699-131_B_F_1857568257fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta01/30/1210/28/16137Genomicunknown
ss4912013681000GENOMES|20110521_exome_709166_chrX_65824986fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc02/10/1202/22/12137Genomicunknown
ss491577334EXOME_CHIP|nonsyn_293560_chr_X_65824986fwd/BC/Tatgacagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgtacctgc03/05/1203/06/12137Genomicunknown
ss491951462CLINSEQ_SNP|SNV-chrX-65741711fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/06/1203/13/12137Genomicunknown
ss536862437ILLUMINA|HumanOmni5-4v1_B_rs1385699-131_B_F_1893993487fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta06/22/1208/28/15146Genomicunknown
ss566888383TISHKOFF|snp_chrX_65824986fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta11/22/1211/23/12138Genomicunknown
ss662833803SSMP|X_65824986fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta12/14/1202/14/15138Genomicunknown
ss778429717ILLUMINA|HumanOmni25Exome-8v1_A_rs1385699-131_B_F_1865593714fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/30/1307/09/15146Genomicunknown
ss780766602ILLUMINA|HumanOmni25Exome-8v1_A_exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/30/1307/09/15146Genomicunknown
ss782833603ILLUMINA|HumanOmni2.5-4v1_H_rs1385699-131_B_F_1857568257fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/30/1307/28/15146Genomicunknown
ss783445968ILLUMINA|HumanOmniExpressExome-8v1_A_exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/31/1306/19/15146Genomicunknown
ss783798366ILLUMINA|HumanOmniExpressExome-8v1_A_rs1385699-131_B_F_1893993487fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/31/1306/19/15146Genomicunknown
ss825397509ILLUMINA|HumanCNV370v1_C_rs1385699-126_B_F_IFB1135775153:0fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta06/24/1311/21/14144Genomicunknown
ss832087157ILLUMINA|HumanOmniExpress-12v1_H_rs1385699-131_B_F_1857568257fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta09/17/1306/19/15146Genomicunknown
ss833885175ILLUMINA|HumanOmni2.5-8v1_A_rs1385699-131_B_F_1865593714fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta09/18/1307/28/15146Genomicunknown
ss1067610246JMKIDD_LAB|HGDP_exomes_chrX_65824986fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta07/09/1407/09/14142Genomicunknown
ss1082942839JMKIDD_LAB|HGDP_WGS_chrX_65824986fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta07/10/1407/12/14142Genomicunknown
ss1432051365DDI|DDI_rs1385699fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta11/04/1411/05/14144Genomicunknown
ss15546981111000GENOMES|PHASE3_chrX_1471793byFreqfwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta08/16/1408/07/15144Genomicunknown
ss1583404138EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1385699fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta02/19/1502/20/15144Genomicunknown
ss1640884199EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_X_65824986_45624167fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/04/1503/04/15144Genomicunknown
ss1683878232EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_X_65824986_45624167fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/04/1503/04/15144Genomicunknown
ss1694540018EVA_EXAC|EVA_EXAC_10043150fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/04/1503/04/15144Genomicunknown
ss1711583488EVA_MGP|EVA_XIMO_699248fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/09/1503/09/15144Genomicunknown
ss1752809826ILLUMINA|OmniExpressExome-8v1-1_B_exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/27/1506/09/15146Genomicunknown
ss1752809827ILLUMINA|OmniExpressExome-8v1-1_B_rs1385699-131_B_F_1893993487fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/27/1506/09/15146Genomicunknown
ss1917717914ILLUMINA|HumanExome-12v1-1_B_exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta10/16/1510/16/15147Genomicunknown
ss1939395095WEILL_CORNELL_DGM|SNV:chrX:65824986fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta10/16/1510/19/15147Genomicunknown
ss1945973899ILLUMINA|HumanCoreExome-12v1-0_C_exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta10/29/1510/29/15147Genomicunknown
ss1958196501ILLUMINA|exm1643469-0_B_F_1922050615fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta11/13/1511/13/15147Genomicunknown
ss1971382569GENOMED|rs1385699fwd/BC/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta02/16/1602/16/16147Genomicunknown
ss2159080810USC_VALOUEV|NC_000023.10:g.65824986C>Tfwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta11/17/1611/17/16150Genomicunknown
ss2317759598HUMAN_LONGEVITY|HLI-X-66605144-C-Tfwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta11/18/1611/18/16150Genomicunknown
ss2629710595SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6968016fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta01/06/1701/06/17151Genomicunknown
ss2634963493ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1385699-131_B_F_18939934fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta02/02/1702/02/17151Genomicunknown
ss2635202826ILLUMINA|Cancer_BeadChip_11459870_A_rs1385699-128_B_F_1773158738fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta02/02/1702/02/17151Genomicunknown
ss2710200796GRF|rs1385699fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta02/13/1702/13/17151Genomicunknown
ss2711183252ILLUMINA|Consortium-OncoArray_15047405_A_chrX_65824986_C_T-100_B_F_219912fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta03/22/1703/22/17151Genomicunknown
ss2745435471GNOMAD|exomes_rs1385699fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/17/1705/17/17151Genomicunknown
ss2746112910GNOMAD|coding_rs1385699fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/17/1705/17/17151Genomicunknown
ss2979589898GNOMAD|rs1385699fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/23/1705/23/17151Genomicunknown
ss2985485713AFFY|Axiom_PsorMich_Affx-34990460fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/24/1705/24/17151Genomicunknown
ss3020079339SWEGEN|NC_000023.10:g.65824986C>Tfwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta05/30/1705/30/17151Genomicunknown
ss3023011081ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1643469-0_B_F_1922050615fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta06/28/1706/28/17151Genomicunknown
ss3029054271BIOINF_KMB_FNS_UNIBA|X.66605144C>Tfwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta07/05/1707/05/17151Genomicunknown
ss3612851580TOPMED|TOPMed_freeze_5?chrX:66,605,144fwd/C/Tagcacaggtgatgcaactctgacattgtggtggccccagctgcttttgta10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1385699|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TCTGTGTCTT TTTCTGACTC AGAGACCCAG ACACTCTACT TCTTCCCCCA TTCATGACAC
 CATGTAGCCA AAAGGAGACC TAATTCCACA AGAGAGGGGT GCACTGCTTT GATACCAAGT
 ACATCATAAC TTCTTTTAAG TCTACAGTGA GATTTACCTT GAACTTTGGT CTTCAGCTGA
 GAGTGATGAT GGAAAAGCGG TCAAGTACTC ATCTGTGACT GACAATGTGC TAAGCACTTT
 ATAGAGGTAT CTTGGGAAGA CACCACTTCT CTCTTCTGGG AGCTTAAACT GAATATTATG
 TTTATAAGAA GAATATTTCG ACTAAGTTCT GAGAGGTGAG GATGGGAGAA ACCTCCAACA
 GCTAGAAAAG CCCAGACAAG CTTGGTCTCA TAAAGCAAGC TCACCTGGGC AAACAGTCCC
 CACAGACAGC ATTAGAGGTA GCTGTGCAGT TGACCTTCTG AACACGATTG ATGACAGCAC
 AGGTGATGCA ACTCTGACAT
 Y
 TGTGGTGGCC CCAGCTGCTT TTGTACCTGC GAGGAGGGCA GGCTGTGCAG TAGGCATCTC
 CACCCTCTCC ATAACCACAA TCCTGTAGAC AGATGGGGGT TGTTAATATT GCTTTATAGG
 AGCTTGGAGA TGGGATCACC TGTGGGACAA GTGGACTGTA CAGGGTAGTA TTTTGCAACT
 TGCAACCCCA TTACTAAGTC ATAAAACCAA TTCACTAGCT TCCAGCCAGC ATTGAAAGAT
 AAAATAGAAT GAAATAGAAT AATAGTATCA AATATAAGAG TACATGGAAT GAAGTAAAGC
 TAAGTATTTG TATCAGTCAG CATAGGCTAT GCTGCAGTAT GGCAAAAGTC AAACCCTAAA
 TCTCAGTGTC TTAAAAGAAT AAAAGTTTAT TTCTCACTCA TCATATTTGC CTACCAGGGG
 GTTCCTGAGG ACTCTGCTGT ACATCATCCT CAATGGGGTA CCCGGGGTTA CAGAAGCTTT
 ATTTTTCTGC TTTTATGATT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011669.16
dbSNP Blast Analysis
UniGene Cluster ID
302017
3D structure mapping
NP_001186616  NP_001229239  NP_068555  

  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.
Source0/C
0/T
C/C
C/T
T
T/T
HWP0
C
T
ss144650582ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss1554698111EAS 1008AF 0.243100000.75690001
EUR 1006AF 0.387700020.61230004
AFR 1322AF 0.966700020.03330000
AMR 694AF 0.367399990.63260001
SAS 978AF 0.335400020.66460001
ss161801160ENSEMBL_celera 4IG 0.50000000 0.50000000 0.500000000.50000000
ss163132313CEUEuropean 1IG 1.00000000 1.00000000
ss166278951PGP 1IG 1.00000000 1.00000000
ss1694540018ExAc_Aggregated_Populations121200AF 0.224801990.77519804
ss2177567SC_12_AAsian 24IG 0.50000000 0.500000000.479500000.25000000 0.75000000
SC_12_AAAfrican American 24IG0.50000000 0.333333340.16666667 0.449329000.250000000.666666690.08333334
SC_12_CEuropean 8IG0.250000000.25000000 0.25000000 0.25000000 0.250000000.250000000.50000000
SC_95_CEuropean 94IG0.085106380.42553192 0.21276596 0.276595740.199888000.255319150.148936170.59574467
ss342554773ESP_Cohort_Populations 4542GF 0.370761780.19418758 0.435050640.00100000 0.467855570.53214443
ss43596569AoD_African_American 90AF 0.920000020.08000000
AoD_Caucasian 92AF 0.180000020.82000005
ss76888603HapMap-CEUEuropean 226IG 0.115044250.14159292 0.743362840.00100000 0.185840710.81415927
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 88IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 226IG 0.991150440.00884956 1.00000000 0.995575250.00442478
HAPMAP-ASW 98IG 0.714285730.22448979 0.061224490.15022200 0.826530640.17346939
HAPMAP-GIH 176IG 0.068181820.07954545 0.852272750.00100000 0.107954550.89204544
HAPMAP-LWK 180IG 0.922222200.05555556 0.022222220.00100000 0.949999990.05000000
HAPMAP-MEX 100IG 0.100000000.10000000 0.800000010.00100000 0.150000010.85000002
HAPMAP-MKK 286IG 0.727272750.11188811 0.160839160.00100000 0.783216770.21678321
HAPMAP-TSI 176IG 0.113636370.18181819 0.704545440.00100000 0.204545450.79545456
ENSEMBL_Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.321+/-0.2400000ALFRED: 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
byClusterbyFreqbySubmitterwith2hitwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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