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Reference SNP (refSNP) Cluster Report: rs1667394                 ** With other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With other allele [ClinVar]
MAF/MinorAlleleCount:T=0.3796/1901 (1000 Genomes)
C=0.3197/40144 (TOPMED)
HGVS Names
  • CM000677.2:g.28285036C>A
  • CM000677.2:g.28285036C>T
  • NC_000015.10:g.28285036C>A
  • NC_000015.10:g.28285036C>T
  • NC_000015.9:g.28530182C>T
  • NG_016355.1:g.42114G>A
  • NG_016355.1:g.42114G>T
  • NM_004667.5:c.323-4749G>A
  • NM_004667.5:c.323-4749G>T
  • NT_187660.1:g.532267T=
  • NT_187660.1:g.532267T>A
  • NT_187660.1:g.532267T>C
  • NW_011332701.1:g.418481T=
  • NW_011332701.1:g.418481T>A
  • NW_011332701.1:g.418481T>C
  • XR_001751410.1:n.453-4749G>A
  • XR_001751410.1:n.453-4749G>T
  • XR_931930.2:n.453-4749G>A
  • XR_931930.2:n.453-4749G>T
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 ss21262991 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1667394 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
ss2493439SC_JCM|AC018348.2_155214fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat11/03/0010/10/0389Genomicunknown
ss21262991SSAHASNP|WGSA-200403-chr15.chr15.NT_010280.16_895673byFreqrev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa03/19/0410/26/06121Genomicunknown
ss40534750ABI|hCV26683195rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa07/17/0507/17/05126Genomicunknown
ss66831117ILLUMINA|HumanHap300v1.1_rs1667394fwd/BA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat11/09/0611/09/06127Genomicunknown
ss67145528ILLUMINA|HumanHap550v1.1_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat11/14/0611/14/06127Genomicunknown
ss67487245ILLUMINA|HumanHap650Yv1.0_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat11/14/0611/14/06127Genomicunknown
ss69171501PERLEGEN|PGP05095065byFreqrev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa01/30/0708/14/07127Genomicunknown
ss70447661ILLUMINA|HumanHap300v2.0_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat04/18/0711/18/07127Genomicunknown
ss70638736ILLUMINA|HumanHap550v3.0__rs1667394rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa04/20/0703/30/08130Genomicunknown
ss71189767ILLUMINA|HumanHap650Yv3.0_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat04/23/0704/23/07127Genomicunknown
ss75886860ILLUMINA|ILMN_Human_1M_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat08/28/0708/29/07129Genomicunknown
ss83858907KRIBB_YJKIM|KHS559008fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat12/04/0712/05/07130Genomicunknown
ss90104113BCMHGSC_JDW|JWB-0834831rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa02/26/0802/29/08129Genomicunknown
ss96746400HUMANGENOME_JCVI|1103645572014rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa03/27/0803/27/08130Genomicunknown
ss103224383BGI|BGI_rs1667394rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa06/05/0806/18/09131Genomicunknown
ss1086966941000GENOMES|CEU.trio.12.15.2008_3134821_chr15_26203777rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa12/16/0812/16/08130Genomicunknown
ss121772795ILLUMINA|HumanCNV370v1_C_rs1667394fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat04/14/0904/14/09131Genomicunknown
ss136931692ENSEMBL|ENSSNP1080622rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa12/08/0810/15/09131Genomicunknown
ss153547499ILLUMINA|Human610_Quadv1_B_rs1667394-128_B_R_1501692936rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa06/18/0906/19/09131Genomicunknown
ss159291394ILLUMINA|Human660W-Quad_v1_A_rs1667394-128_B_R_1501692936rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa07/06/0907/06/09131Genomicunknown
ss160382025ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1667394-128_B_R_1501692936rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa08/04/0910/02/09131Genomicunknown
ss170704821ILLUMINA|HumanCNV370-Quadv3_C_rs1667394-128_B_R_1501692936rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa10/01/0910/03/09132Genomicunknown
ss172613222ILLUMINA|Human1M-Duov3_B_rs1667394-128_B_R_1501692936rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa10/01/0910/02/09132Genomicunknown
ss207156077BCM-HGSC-SUB|BCM_CMT_1011-2685377rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa03/15/1003/18/10132Genomicunknown
ss2268137531000GENOMES|pilot_1_YRI_8623436_chr15_26203777rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa04/22/1004/22/10132Genomicunknown
ss2367228941000GENOMES|pilot_1_CEU_6327523_chr15_26203777rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa05/01/1005/01/10132Genomicunknown
ss2431208161000GENOMES|pilot_1_CHB+JPT_5005893_chr15_26203777rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa05/01/1005/01/10132Genomicunknown
ss282193312GMI|GMI_AK_SNP_6513707rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa12/16/1012/16/10137Genomicunknown
ss286924812GMI|GMI_NA10851_SNP_2937603rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa12/17/1012/17/10138Genomicunknown
ss291808428PJP|SNP_1314786_chr15_26203777rev/C/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa01/21/1101/21/11134Genomicunknown
ss410908960ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs1667394rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa06/07/1106/07/11135Genomicunknown
ss480062333ILLUMINA|HumanOmni2.5-4v1_B_rs1667394-128_B_R_1615264941rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa01/30/1210/28/16137Genomicunknown
ss480071052ILLUMINA|HumanOmniExpress-12v1_C_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa01/30/1210/27/16137Genomicunknown
ss480745335ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1667394-131_B_R_1865600364rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa01/30/1208/28/15146Genomicunknown
ss484829059ILLUMINA|HumanOmni2.5-4v1_D_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa01/30/1210/27/16137Genomicunknown
ss491491456EXOME_CHIP|.GWAS._207682_chr_15_28530182rev/BC/Tattaagacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaatagaa03/05/1203/05/12137Genomicunknown
ss536904980ILLUMINA|HumanOmni5-4v1_B_rs1667394-131_B_R_1866537238rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa06/22/1208/29/15146Genomicunknown
ss564384359TISHKOFF|snp_chr15_28530182rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa11/22/1211/23/12138Genomicunknown
ss660096472SSMP|15_28530182rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa12/14/1202/13/15138Genomicunknown
ss778816195ILLUMINA|HumanOmni25Exome-8v1_A_rs1667394-131_B_R_1866537238rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/30/1307/10/15146Genomicunknown
ss780682209ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/30/1307/10/15146Genomicunknown
ss782861105ILLUMINA|HumanOmni2.5-4v1_H_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/30/1307/29/15142Genomicunknown
ss783355552ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/31/1306/18/15146Genomicunknown
ss783825433ILLUMINA|HumanOmniExpressExome-8v1_A_rs1667394-131_B_R_1967890559rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/31/1306/18/15146Genomicunknown
ss825416394ILLUMINA|HumanCNV370v1_C_rs1667394-126_B_R_IFB1137738776:0rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa06/24/1311/21/14147Genomicunknown
ss832115128ILLUMINA|HumanOmniExpress-12v1_H_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/17/1306/18/15144Genomicunknown
ss832803503ILLUMINA|Human660W-Quad_v1_C_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/18/1307/02/15142Genomicunknown
ss833394333ILLUMINA|Human660W-Quad_v1_H_rs1667394-131_B_R_1857641321rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/18/1307/02/15142Genomicunknown
ss834276502ILLUMINA|HumanOmni2.5-8v1_A_rs1667394-131_B_R_1866537238rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/18/1307/29/15146Genomicunknown
ss991625436EVA-GONL|EVA-GONL_rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa04/23/1404/30/14142Genomicunknown
ss1080004263JMKIDD_LAB|HGDP_WGS_chr15_28530182rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa07/10/1407/12/14142Genomicunknown
ss13528276751000GENOMES|PHASE3_V1_66132234rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa08/16/1408/16/14142Genomicunknown
ss1397692518HAMMER_LAB|HAMMER_LAB_rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/30/1407/15/15146Genomicunknown
ss1427576175DDI|DDI_rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa11/04/1411/04/14144Genomicunknown
ss1505810803OMIM-CURATED-RECORDS|SCV000025185fwd/TA/Gttctattcattgtttctttgtttgtttggttatgcacgttttgaattgctgcgtcttaat12/08/1412/08/14142Genomicunknown
ss1577523254EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/19/1502/19/15144Genomicunknown
ss1632673531EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_28530182_36577869rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa03/04/1503/04/15144Genomicunknown
ss1675667564EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_28530182_36577869rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa03/04/1503/04/15144Genomicunknown
ss1695637239EVA_DECODE|EVA_DECODE_15_26203777_51812_rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa03/02/1503/04/15144Genomicunknown
ss1713477725EVA_SVP|EVA_SVP_1172092rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa03/12/1503/12/15144Genomicunknown
ss1752154535ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/27/1506/09/15146Genomicunknown
ss1752154536ILLUMINA|OmniExpressExome-8v1-1_B_rs1667394-131_B_R_1967890559rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/27/1506/09/15146Genomicunknown
ss1917893760ILLUMINA|HumanExome-12v1-1_B_exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/16/1510/16/15147Genomicunknown
ss1935023014WEILL_CORNELL_DGM|SNV:chr15:28530182rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/16/1510/17/15147Genomicunknown
ss1946388565ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/29/1510/29/15147Genomicunknown
ss1959597666ILLUMINA|exm-rs1667394-131_B_R_1990479910rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa11/13/1511/13/15147Genomicunknown
ss1968070905GENOMED|rs1667394rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/16/1602/16/16147Genomicunknown
ss2028291460JJLAB|SNP8794015rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa08/29/1608/31/16149Genomicunknown
ss2094797606ILLUMINA|Immuno_BeadChip_11419691_B_rs1667394-131_B_R_1866537238rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/27/1609/27/16150Genomicunknown
ss2095057524ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1667394-131_B_R_1866537238rev/BC/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa09/27/1609/27/16150Genomicunknown
ss2156688545USC_VALOUEV|NC_000015.9:g.28530182C>Trev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa11/17/1611/17/16150Genomicunknown
ss2370077749TOPMED|15_28530182_C/Trev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa11/19/1611/19/16150Genomicunknown
ss2628638998SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5617475rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa01/06/1701/06/17151Genomicunknown
ss2633208829ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1667394-131_B_R_2131rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/02/1702/02/17151Genomicunknown
ss2633208830ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1667394-131_B_R_19678905rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/02/1702/02/17151Genomicunknown
ss2633208831ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1667394-131_B_R_2130rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/02/1702/02/17151Genomicunknown
ss2635056534ILLUMINA|Cancer_BeadChip_11459870_A_rs1667394-128_B_R_1615264941rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/02/1702/02/17151Genomicunknown
ss2701147811GRF|rs1667394rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa02/13/1702/13/17151Genomicunknown
ss2933005848GNOMAD|rs1667394rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/23/1705/23/17151Genomicunknown
ss2985035159AFFY|Axiom_PsorMich_Affx-11383888rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/24/1705/24/17151Genomicunknown
ss2985667545AFFY|Axiom_Smokesc1_Affx-11383888rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/24/1705/24/17151Genomicunknown
ss3013008343SWEGEN|NC_000015.9:g.28530182C>Trev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa05/30/1705/30/17151Genomicunknown
ss3021616434ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1667394-131_B_R_1990479910rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa06/28/1706/28/17151Genomicunknown
ss3027969935BIOINF_KMB_FNS_UNIBA|15.28285036C>Trev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa07/05/1707/05/17151Genomicunknown
ss3223276086TOPMED|TOPMed_freeze_5?chr15:28,285,036-01rev/A/Cgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/01/1710/01/17151Genomicunknown
ss3223276087TOPMED|TOPMed_freeze_5?chr15:28,285,036-02rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/01/1710/01/17151Genomicunknown
ss3351042335CSHL|rs1667394rev/C/Tgacgcagcaattcaaaacgtgcataaccaaacaaacaaagaaacaatgaa10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1667394|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TTtcccatgc attttgatgt attgtacttg cattttctct cagttcagaa tatattttaa
 aatttccctt gagacttcct ctttgatcca tggattattt agaagtttat tgtttagttt
 ctgagagtta ggcaattttc ctgtaattgt tctcttgttg acttctaatt tgtttccatt
 gtttgaggga acatatgctg tgtgatttta atttcaaaaa atttgttagg tttgttttat
 gcctcagaat atgttctaac ttagtatttg ttttgtggat gcttgaacag attatgtatt
 ctgctgttat tggctggagt gttctgtaaa ttttgattgg atccagttga ttgatggtga
 tgttgaattc tatatcttgg cagcttttct gtcttctaat tttatcagct gtagagagag
 actttgaggt ctccaactat aaaagtataa atgtcttttt ctcctttcag ttctattcat
 tgtttctttg tttgtttggt
 D
 tatgcacgtt ttgaattgct gcgtcttaat ggtggattga ccaagttctc attttgtaat
 gttgccatct gttcctggta attatctttt tttttttttt tttttttttt ttttttccga
 gacggagttt cgctcctttt gcccaggcag gagtgaagtg gcacgatctc agctcactgc
 aacctccaac cccaccgggt tcaagtgatt ctcctgcctc agcctcctga gtagctggga
 ttataggcat ctgccatcac acctagctac tttttgtatt tttagtagag atggggtttt
 gccatgttgg ccaggctggt ctcagactcc tgagatccac ccaccttggc ctcccaaagt
 gctaggatta caggcgtgag ccactgtgcc cggccttcct ggtaattatc tttgctctga
 agtttacttt atttgatata aatgtagcca acttctgctg tcctttcagt aatgtttgca
 tgatcttttt ttttTTCTAT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010280 ABBA01044288 AC004583
dbSNP Blast Analysis
OMIM
227220

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1667394 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1352827675EAS 1008AF 0.270799990.72920001
EUR 1006AF 0.756500010.24349999
AFR 1322AF 0.087000000.91299999
AMR 694AF 0.564799960.43520001
SAS 978AF 0.368099990.63190001
ss136931692ENSEMBL_Venter 2IG1.00000000 1.00000000
ss21262991HapMap-CEUEuropean 222IG0.720720710.270270260.009009010.317310000.855855880.14414415
HapMap-HCBAsian 86IG0.023255810.372093020.604651150.438578000.209302320.79069769
HapMap-JPTAsian 172IG0.069767450.255813960.674418630.099721000.197674420.80232561
HapMap-YRISub-Saharan African 224IG 0.098214280.901785731.000000000.049107140.95089287
HAPMAP-ASW 98IG0.040816330.326530610.632653061.000000000.204081640.79591835
HAPMAP-CHBAsian 82IG0.024390240.463414640.512195110.200325000.256097560.74390244
HAPMAP-CHD 166IG0.072289150.397590370.530120491.000000000.271084340.72891569
HAPMAP-GIH 176IG0.159090910.431818190.409090910.479500000.375000000.62500000
HAPMAP-LWK 176IG 0.056818180.943181811.000000000.028409090.97159094
HAPMAP-MEX 100IG0.419999990.400000010.180000010.294266000.620000000.38000000
HAPMAP-MKK 284IG0.007042250.147887320.845070421.000000000.080985920.91901410
HAPMAP-TSI 176IG0.340909090.465909090.193181810.751830000.573863630.42613637
ss226813753pilot_1_YRI_low_coverage_panel 118AF 0.042372880.95762712
ss236722894pilot_1_CEU_low_coverage_panel 120AF 0.850000020.15000001
ss243120816pilot_1_CHB+JPT_low_coverage_panel 120AF 0.183333340.81666666
ss69171501HapMap-CEUEuropean 120IG0.733333350.26666668 0.583882000.866666670.13333334
HapMap-HCBAsian 90IG0.022222220.355555560.622222240.479500000.200000000.80000001
HapMap-JPTAsian 90IG0.022222220.244444440.733333351.000000000.144444450.85555553
HapMap-YRISub-Saharan African 120IG 0.100000000.899999981.000000000.050000000.94999999
ss96746400J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.471+/-0.1170000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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