NCBI
 dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
mockup icon
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Check it out
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs1426654                 ** With Benign ,other allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:88/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign ,other allele [ClinVar]
MAF/MinorAlleleCount:G=0.2283/27693 (ExAC)
A=0.4377/2192 (1000 Genomes)
G=0.2640/3430 (GO-ESP)
G=0.3512/44100 (TOPMED)
HGVS Names
  • CM000677.2:g.48134287A>G
  • NC_000015.10:g.48134287A=
  • NC_000015.10:g.48134287A>G
  • NC_000015.9:g.48426484A=
  • NC_000015.9:g.48426484A>G
  • NC_000015.9:g.48426484A>T
  • NG_011500.1:g.18316A=
  • NG_011500.1:g.18316A>G
  • NG_011500.1:g.18316A>T
  • NM_205850.2:c.331A=
  • NM_205850.2:c.331A>G
  • NM_205850.2:c.331A>T
  • NP_995322.1:p.Thr111=
  • NP_995322.1:p.Thr111Ala
  • NP_995322.1:p.Thr111Ser
  • XP_005254365.1:p.Thr111=
  • XP_005254365.1:p.Thr111Ala
  • XP_005254365.1:p.Thr111Ser
  • XP_005254366.1:p.Thr51=
  • XP_005254366.1:p.Thr51Ala
  • XP_005254366.1:p.Thr51Ser
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 ss282244690 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1426654 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
ss2233714TSC-CSHL|TSC0633716byFreqfwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc10/20/0010/25/0688Genomic95 %
ss3462402SC_JCM|AC090526.3_146711fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc09/24/0110/10/03100Genomicunknown
ss12321463WI_SSAHASNP|chr15.NT_010194.15_19216095fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc07/04/0310/10/03116Genomicunknown
ss19327142CSHL-HAPMAP|CSHL-HuDD-200402.chr15.NT_010194.16_19217041fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc02/20/0403/04/04120Genomicunknown
ss43742806ABI|hCV2908190byFreqfwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc07/18/0511/03/06126Genomicunknown
ss65725648ILLUMINA|Human1-rs1426654fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc10/10/0610/10/06127Genomicunknown
ss69175592PERLEGEN|PGP04749428byFreqfwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc01/30/0708/14/07127Genomicunknown
ss69356387PERLEGEN|PS04749428fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc02/16/0702/16/07127Genomicunknown
ss74806079AFFY|SNP_M-174264fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc08/09/0708/09/07128Genomicunknown
ss74865056ILLUMINA|ILMN_Human_1M_rs1426654fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc08/28/0708/29/07129Genomicunknown
ss80703511HGSV|Cor18507_SNV_20070510.chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc11/26/0711/26/07130Genomicunknown
ss83526066HGSV|Cor18555_SNV_20070510.chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc11/27/0712/05/07130Genomicunknown
ss85617502HGSV|Cor19129_SNV_20070510.chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc12/06/0712/09/07130Genomicunknown
ss106427081BGI|BGI_rs1426654fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc09/15/0806/18/09130Genomicunknown
ss1141351701000GENOMES|NA19240_2008_12_16_2834391_chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc12/18/0812/18/08130Genomicunknown
ss118216307ILLUMINA-UK|NA18507_000032135_NCBI36.1_chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc01/20/0901/21/09130Genomic99 %
ss119392172KRIBB_YJKIM|KHS1554419fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc02/04/0902/04/09131Genomicunknown
ss153430106ILLUMINA|Human610_Quadv1_B_rs1426654-128_T_F_1513890075fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc06/18/0906/19/09131Genomicunknown
ss156507260GMI|GMI_SNP_71214234fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc06/24/0906/25/09131Genomicunknown
ss159268497ILLUMINA|Human660W-Quad_v1_A_rs1426654-128_T_F_1513890075fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc07/06/0907/06/09131Genomicunknown
ss159730646SEATTLESEQ|SLC24A5-46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc07/10/0907/10/09131Genomicunknown
ss160351692ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1426654-128_T_F_1513890075fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc08/04/0910/02/09131Genomicunknown
ss161717571ENSEMBL|ENSSNP1103723byFreqfwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc09/24/0903/07/10131Genomicunknown
ss169373884COMPLETE_GENOMICS|NA19240_36_chr15_46213776fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc10/01/0910/01/09132Genomicunknown
ss172493002ILLUMINA|Human1M-Duov3_B_rs1426654-128_T_F_1513890075fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc10/01/0910/02/09132Genomicunknown
ss200810996BUSHMAN|BUSHMAN-chr15-46213775fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc02/16/1003/07/10132Genomicunknown
ss2268791451000GENOMES|pilot_1_YRI_8688828_chr15_46213776fwd/A/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc04/22/1004/22/10132Genomicunknown
ss2431568081000GENOMES|pilot_1_CHB+JPT_5041885_chr15_46213776fwd/A/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc05/01/1005/01/10132Genomicunknown
ss244239384OMICIA|2010_April_001_041_SLC24A5_609802_0001fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc05/27/1005/28/10132Genomicunknown
ss252841619OMIM-CURATED-RECORDS|16525fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc08/10/1008/10/10132Genomicunknown
ss282244690GMI|GMI_AK_SNP_6565089fwd/A/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc12/16/1012/16/10137Genomicunknown
ss291715106PJP|SNP_1221464_chr15_46213776fwd/A/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc01/21/1101/21/11134Genomicunknown
ss342403033NHLBI-ESP|ESP2500-chr15-48426484byFreqfwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc03/25/1109/05/14134Genomicunknown
ss479969658ILLUMINA|HumanOmni2.5-4v1_B_rs1426654-128_T_F_1616886855fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1210/28/16137Genomicunknown
ss479978177ILLUMINA|HumanOmniExpress-12v1_C_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1210/27/16137Genomicunknown
ss480624669ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1208/28/15146Genomicunknown
ss483399039ILLUMINA|HumanOmni2.5-4v1_B_SNP15-46213776-0_T_F_1624223948fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1210/28/16137Genomicunknown
ss483811277ILLUMINA|HumanOmni2.5-4v1_D_kgp6909338-0_T_F_1807355757fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1210/27/16137Genomicunknown
ss484783062ILLUMINA|HumanOmni2.5-4v1_D_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/30/1210/27/16137Genomicunknown
ss4910826141000GENOMES|20110521_exome_590412_chr15_48426484fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc02/10/1202/22/12137Genomicunknown
ss491494238EXOME_CHIP|nonsyn_210464_chr_15_48426484fwd/TA/Ggcccttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttcagctc03/05/1203/05/12137Genomicunknown
ss491700325CLINSEQ_SNP|SNV-chr15-46213776byFreqfwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/06/1209/05/14137Genomicunknown
ss536008829ILLUMINA|HumanOmni5-4v1_B_kgp6909338-0_T_F_1807355757fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc06/22/1208/29/15146Genomicunknown
ss564465609TISHKOFF|snp_chr15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/22/1211/23/12138Genomicunknown
ss660185488SSMP|15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc12/14/1202/13/15138Genomicunknown
ss780662471ILLUMINA|HumanOmni25Exome-8v1_A_kgp6909338-0_T_F_1807355757fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/30/1307/10/15142Genomicunknown
ss780708416ILLUMINA|HumanOmni25Exome-8v1_A_exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/30/1307/10/15146Genomicunknown
ss782349211ILLUMINA|HumanOmni2.5-4v1_H_kgp6909338-0_T_F_1807355757fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/30/1307/29/15142Genomicunknown
ss782838198ILLUMINA|HumanOmni2.5-4v1_H_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/30/1307/29/15142Genomicunknown
ss783383123ILLUMINA|HumanOmniExpressExome-8v1_A_exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/31/1306/18/15146Genomicunknown
ss832091835ILLUMINA|HumanOmniExpress-12v1_H_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/17/1306/18/15144Genomicunknown
ss832780686ILLUMINA|Human660W-Quad_v1_C_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/18/1307/02/15142Genomicunknown
ss833371516ILLUMINA|Human660W-Quad_v1_H_rs1426654-131_T_F_1852855683fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/18/1307/02/15142Genomicunknown
ss836157994ILLUMINA|HumanOmni2.5-8v1_A_kgp6909338-0_T_F_1807355757fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/18/1307/29/15142Genomicunknown
ss974491187JMKIDD_LAB|KhoeSan_Exomes_chr15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/06/1403/06/14142Genomicunknown
ss1067552258JMKIDD_LAB|HGDP_exomes_chr15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc07/09/1407/09/14142Genomicunknown
ss1080104198JMKIDD_LAB|HGDP_WGS_chr15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc07/10/1407/12/14142Genomicunknown
ss13533590761000GENOMES|PHASE3_V1_66687104fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc08/16/1408/16/14142Genomicunknown
ss1397696331HAMMER_LAB|HAMMER_LAB_rs1426654fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/30/1409/30/14146Genomicunknown
ss1427617465DDI|DDI_rs1426654fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/04/1411/04/14144Genomicunknown
ss1577598398EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1426654fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/19/1502/19/15144Genomicunknown
ss1632940740EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_48426484_36873604fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/04/1503/04/15144Genomicunknown
ss1675934773EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_48426484_36873604fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/04/1503/04/15144Genomicunknown
ss1691816713EVA_EXAC|EVA_EXAC_7118771fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/04/1503/04/15144Genomicunknown
ss1695775524EVA_DECODE|EVA_DECODE_15_46213776_190100_rs1426654fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/02/1503/04/15144Genomicunknown
ss1711396744EVA_MGP|EVA_XIMO_512504fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/09/1503/09/15144Genomicunknown
ss1713487778EVA_SVP|EVA_SVP_1182145fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc03/12/1503/12/15144Genomicunknown
ss1752161861ILLUMINA|OmniExpressExome-8v1-1_B_exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/27/1506/09/15146Genomicunknown
ss1752161862ILLUMINA|OmniExpressExome-8v1-1_B_rs1426654-131_T_F_1891342409fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/27/1506/09/15146Genomicunknown
ss1808191813HAMMER_LAB|Hsieh_7216784fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc07/15/1507/16/15146Genomicunknown
ss1917896187ILLUMINA|HumanExome-12v1-1_B_exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc10/16/1510/16/15147Genomicunknown
ss1935163453WEILL_CORNELL_DGM|SNV:chr15:48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc10/16/1510/18/15147Genomicunknown
ss1946393010ILLUMINA|HumanCoreExome-12v1-0_C_exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc10/29/1510/29/15147Genomicunknown
ss1959610755ILLUMINA|exm1159330-0_B_R_1922847222fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/13/1511/13/15147Genomicunknown
ss1966652327AMU|chr15_48426484fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/29/1601/29/16147Genomicunknown
ss1968099881GENOMED|rs1426654fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/16/1602/16/16147Genomicunknown
ss2028360854JJLAB|SNP8863409fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc08/29/1608/31/16149Genomicunknown
ss2095058734ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1426654-138_T_F_2264373681fwd/TA/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc09/27/1609/27/16150Genomicunknown
ss2156761954USC_VALOUEV|NC_000015.9:g.48426484A>Gfwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/17/1611/17/16150Genomicunknown
ss2206557232HUMAN_LONGEVITY|HLI-15-48134287-A-G,Tfwd/A/G/Ttggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/18/1611/18/16150Genomicunknown
ss2371231567TOPMED|15_48426484_A/Gfwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc11/19/1611/19/16150Genomicunknown
ss2628674351SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5662745fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc01/06/1701/06/17151Genomicunknown
ss2633225548ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp6909338-0_T_F_180735575fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/02/1702/02/17151Genomicunknown
ss2633225549ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1426654-131_T_F_18913424fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/02/1702/02/17151Genomicunknown
ss2635057786ILLUMINA|Cancer_BeadChip_11459870_A_rs1426654-128_T_F_1616886855fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/02/1702/02/17151Genomicunknown
ss2701230558GRF|rs1426654fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc02/13/1702/13/17151Genomicunknown
ss2741226933GNOMAD|exomes_rs1426654fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/17/1705/17/17151Genomicunknown
ss2749299631GNOMAD|coding_rs1426654fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/17/1705/17/17151Genomicunknown
ss2934602423GNOMAD|rs1426654fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/23/1705/23/17151Genomicunknown
ss2985040843AFFY|Axiom_PsorMich_Affx-11629938fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/24/1705/24/17151Genomicunknown
ss3013239916SWEGEN|NC_000015.9:g.48426484A>Gfwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc05/30/1705/30/17151Genomicunknown
ss3021630707ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1159330-0_B_R_1922847222fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc06/28/1706/28/17151Genomicunknown
ss3226943894TOPMED|TOPMed_freeze_5?chr15:48,134,287fwd/A/Gtggattgtctcaggatgttgcaggccaactttcatggcagcgggcagttc10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1426654|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TCCTATACCA GAAAATTTGA ACGGACAGTT GAGATGACTT AACAGATGTG TGCAAATTTG
 TGAACAAGCT CTGTTCAGCT GCATTATACA TCTAAAAAAC TAACATCTTT TTTTTCTTCT
 TTGAAGTTGG GTTAGGATTT CCAAATTATC TTAATTTTCA AAGCCATGCT GTTGCTACTC
 ACCTACAAGC CCTCTGCCTC TGAACGCTTT TCTGGGTTCC AAATAACCCT ATGTTTGGCA
 CTCAGGATAT TCCCTTTAGT CTCCTGGCCT TCCCTCACCC TTTCTATAGA AGCATTAAGT
 AATGAAGTCA TAAAGAAGCA AAACATTGGA CTCTTTTAAT CTGTGTATTT TATTTTTCTA
 GTTTAATAGT GGTTTTATGT GAAGCTGTAG CTTTGAGTAT CTATTGTGTT TAGTTGTAAA
 GACATACTCT TTCACTTTAT TAGGCATAAC AATCATTTCA TTTATGTTCA GCCCTTGGAT
 TGTCTCAGGA TGTTGCAGGC
 D
 CAACTTTCAT GGCAGCGGGC AGTTCAGCTC CTGAATTAGT TACTGCTTTC CTAGGTAAAT
 ATTGCTCCTT ATACTTCTTG CTTACTCAGT GTGATTTTTA TTTTCTTCAA GTTAACACTA
 ACTTAGCTGG TACTATCTTG CACATAGGTG TATTTATCAC AAAGGGAGAT ATTGGCATTA
 GCACCATCCT TGGATCTGCA ATTTATAATC TCCTTGGCAT CTGTGCTGCC TGTGGTTTGC
 TATCTAATAC GGTATGTAAC AAAACCATTC AACAAAATGT ATTGTCTTAA AAAATTCTAA
 AGATAACTGT TCGTCGTCTG GGATGGACAA CAGGGCACTA ATAATATGTG CAATCAAATT
 TATTAATCAG TAGAAAAACA ACATGTATTC AATTTAATGT TAATCCACAA ATAGCTCTTG
 GTCAGATTTA TGAAAGTCTG TGTAAGTTAG AACACAATTT TACATTTTTT TCTCTAAGCA
 ATATGCAAAA GATAACAATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010194 AC009823 AC066612 AC090267 AC090269
dbSNP Blast Analysis
UniGene Cluster ID
553672
OMIM
609802.0001

  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.
SourceA/A
A/G
G/G
HWPA
G
ss118216307YRI 2IG 1.00000000 1.00000000
ss1353359076EAS 1008AF 0.011900000.98809999
EUR 1006AF 0.996999980.00300000
AFR 1322AF 0.074100000.92589998
AMR 694AF 0.589300040.41069999
SAS 978AF 0.685099960.31490001
ss161717571ENSEMBL_celera 4IG0.50000000 0.50000000 0.500000000.50000000
ss1691816713ExAc_Aggregated_Populations121412AF 0.771686490.22831351
ss169373884YRISub-Saharan African 2IG 1.00000000 1.00000000
ss2233714Nigeria(AFR) 95AF 0.020000000.97999996
European_American(EUA) 114AF 1.00000000
African_American(AFA) 95AF 0.190000000.80999994
Mexican_American(MAM) 90AF 0.500000000.50000000
East_Asian(EAS) 80AF 0.030000000.96999997
South_Asian(SAS) 87AF 0.819999930.18000001
Mexican(MXN) 94AF 0.380000030.62000000
Puerto_Rican(PRN) 95AF 0.589999970.41000000
Amerindian(MAYAN) 72AF 0.050000000.95000005
ss226879145pilot_1_YRI_low_coverage_panel 118AF 0.016949150.98305082
ss243156808pilot_1_CHB+JPT_low_coverage_panel 120AF 0.016666670.98333335
ss342403033ESP_Cohort_Populations 4536GF0.612433850.152557310.235008820.001000000.688712540.31128749
ss43742806HapMap-CEUEuropean 116IG1.00000000 1.00000000
HapMap-HCBAsian 86IG 0.023255810.976744171.000000000.011627910.98837209
HapMap-JPTAsian 172IG 0.023255810.976744171.000000000.011627910.98837209
HapMap-YRISub-Saharan African 226IG 0.026548670.973451321.000000000.013274340.98672569
AoD_African_American 90AF 0.269999980.72999996
AoD_Caucasian 92AF 0.980000020.02000000
AoD_Chinese 90AF 0.010000000.99000001
HAPMAP-ASW 98IG 0.326530610.673469360.479500000.163265300.83673471
HAPMAP-CHBAsian 82IG 0.097560970.902439001.000000000.048780490.95121950
HAPMAP-CHD 170IG 0.047058820.952941181.000000000.023529410.97647059
HAPMAP-GIH 176IG0.909090940.09090909 1.000000000.954545440.04545455
HAPMAP-LWK 180IG0.011111110.111111110.877777760.317310000.066666670.93333334
HAPMAP-MEX 100IG0.340000000.500000000.160000001.000000000.589999970.41000000
HAPMAP-MKK 286IG0.104895110.447552440.447552441.000000000.328671340.67132866
HAPMAP-TSI 176IG0.988636370.01136364 1.000000000.994318190.00568182
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss491700325CSAgilent 1324GF0.981018960.013986010.004995010.001000000.988012020.01198801

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict		Additional Freq. Data
0.352+/-0.2280000ALFRED: 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
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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