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Reference SNP (refSNP) Cluster Report: rs2230926                 ** With untested allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:G:germline
T:germline
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:With untested allele [ClinVar]
MAF/MinorAlleleCount:G=0.0613/7438 (ExAC)
G=0.1396/699 (1000 Genomes)
G=0.1419/1846 (GO-ESP)
G=0.1345/16886 (TOPMED)
HGVS Names
  • CM000668.2:g.137874929T>C
  • CM000668.2:g.137874929T>G
  • NC_000006.11:g.138196066T>G
  • NC_000006.12:g.137874929T>C
  • NC_000006.12:g.137874929T>G
  • NG_032761.1:g.12486T>C
  • NG_032761.1:g.12486T>G
  • NM_001270507.1:c.380T>C
  • NM_001270507.1:c.380T>G
  • NM_001270508.1:c.380T>C
  • NM_001270508.1:c.380T>G
  • NM_006290.3:c.380T>C
  • NM_006290.3:c.380T>G
  • NP_001257436.1:p.Phe127Cys
  • NP_001257436.1:p.Phe127Ser
  • NP_001257437.1:p.Phe127Cys
  • NP_001257437.1:p.Phe127Ser
  • NP_006281.1:p.Phe127Cys
  • NP_006281.1:p.Phe127Ser
  • XP_005267176.1:p.Phe127Cys
  • XP_005267176.1:p.Phe127Ser
  • XP_011534397.1:p.Phe127Cys
  • XP_011534397.1:p.Phe127Ser
  • XP_011534398.1:p.Phe127Cys
  • XP_011534398.1:p.Phe127Ser
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 ss279042552 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2230926 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
ss3178111WICVAR|WI-22113byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa06/28/0104/07/0498cDNAunknown
ss7984949PGA-UW-FHCRC|TNFAIP3-009437byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa03/19/0304/07/04126Genomicunknown
ss13139525SC_SNP|NT_025741.12_42300495fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa10/22/0310/31/03126Genomicunknown
ss17884085CSHL-HAPMAP|CSHL-HuCC-200402.chr6.NT_025741.13_42300495fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa02/19/0403/04/04126Genomicunknown
ss23371171PERLEGEN|afd4337008byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa08/10/0409/13/04126Genomicunknown
ss44714052ABI|hCV7701116byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa07/19/0511/03/06126Genomicunknown
ss48409725APPLERA_GI|hCV7701116byFreqrev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt09/28/0511/03/06126Genomicunknown
ss65728611ILLUMINA|Human1-rs5029942fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa10/10/0610/10/06127Genomicunknown
ss66620926ILLUMINA|HumanHap300v1.1_rs5029942fwd/TG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa11/09/0611/09/06127Genomicunknown
ss67410508ILLUMINA|HumanHap550v1.1_rs5029942fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa11/14/0611/14/06127Genomicunknown
ss67775697ILLUMINA|HumanHap650Yv1.0_rs5029942fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa11/14/0611/14/06127Genomicunknown
ss68373765CSHL-HAPMAP|sanger:assay:1685039:1byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa01/11/0701/16/07127NAunknown
ss68992924PERLEGEN|PGP04337008byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa01/30/0708/14/07127Genomicunknown
ss70842036ILLUMINA|HumanHap550v3.0__rs2230926rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt04/20/0703/31/08130Genomicunknown
ss71426063ILLUMINA|HumanHap650Yv3.0_rs2230926fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa04/23/0704/23/07127Genomicunknown
ss74811917AFFY|SNP_M-286529fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa08/09/0708/09/07128Genomicunknown
ss75457455ILLUMINA|ILMN_Human_1M_rs2230926fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa08/28/0708/29/07129Genomicunknown
ss79206330ILLUMINA|HumanHap300v2.0_rs2230926fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa04/18/0711/18/07130Genomicunknown
ss80779724HGSV|Cor18507_SNV_20070510.chr6_138237759fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa11/26/0711/26/07130Genomicunknown
ss84002049KRIBB_YJKIM|KHS598276fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa12/04/0712/06/07130Genomicunknown
ss85856461HGSV|Cor18517_SNV_20070510.chr6_138237759fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa12/06/0712/10/07130Genomicunknown
ss86345719CANCER-GENOME|1272fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa01/25/0801/25/08129Genomicunknown
ss116735769ILLUMINA-UK|NA18507_000184520_NCBI36.1_chr6_138237759fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa01/17/0901/18/09130Genomic99 %
ss122453829ILLUMINA|HumanCNV370v1_C_rs2230926fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa04/14/0904/15/09131Genomicunknown
ss153888400ILLUMINA|Human610_Quadv1_B_rs2230926-128_T_R_1501800081rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt06/18/0906/20/09131Genomicunknown
ss159370166ILLUMINA|Human660W-Quad_v1_A_rs2230926-128_T_R_1501800081rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt07/06/0907/07/09131Genomicunknown
ss159713611SEATTLESEQ|TNFAIP3-138237759fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa07/10/0907/10/09131Genomicunknown
ss160517665ILLUMINA|HumanOmni1-Quad_v1-0_B_rs2230926-128_T_R_1501800081rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt08/04/0910/02/09131Genomicunknown
ss171105193ILLUMINA|HumanCNV370-Quadv3_C_rs2230926-128_T_R_1501800081rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt10/01/0910/03/09132Genomicunknown
ss173194719ILLUMINA|Human1M-Duov3_B_rs2230926-128_T_R_1501800081rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt10/01/0910/03/09132Genomicunknown
ss202474163BUSHMAN|BUSHMAN-chr6-138237758byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa02/16/1009/05/14132Genomicunknown
ss2227068251000GENOMES|pilot_1_YRI_4516508_chr6_138237759fwd/G/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa04/22/1004/22/10132Genomicunknown
ss230390866WTCCC|NT_025741.14_42300495_3Tfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa04/30/1004/30/10132Genomicunknown
ss2337055541000GENOMES|pilot_1_CEU_3310183_chr6_138237759fwd/G/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa05/01/1005/01/10132Genomicunknown
ss2407151211000GENOMES|pilot_1_CHB+JPT_2600198_chr6_138237759fwd/G/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa05/01/1005/01/10132Genomicunknown
ss244288071ILLUMINA|CVDSNP55v1_A_rs2230926rev/TA/Cttgcgtgtgtctgtttccttgagcgtgctgacagcgccttcctcagtaccaagtctgtgt06/10/1006/10/10132Genomicunknown
ss279042552GMI|GMI_AK_SNP_3362794fwd/G/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa12/16/1012/16/10137Genomicunknown
ss293735016PJP|SNP_3241374_chr6_138237759fwd/G/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa01/21/1101/21/11134Genomicunknown
ss342224054NHLBI-ESP|ESP2500-chr6-138196066byFreqfwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa03/25/1109/05/14134Genomicunknown
ss480472847ILLUMINA|HumanOmni2.5-4v1_B_rs2230926-128_T_R_1617115390fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca01/30/1210/28/16137Genomicunknown
ss480487183ILLUMINA|HumanOmniExpress-12v1_C_rs2230926-131_T_R_1857158011fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca01/30/1210/27/16137Genomicunknown
ss481285003ILLUMINA|HumanOmni1-Quad_v1-0_C_rs2230926-131_T_R_1865344384fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca01/30/1208/28/15146Genomicunknown
ss485033901ILLUMINA|HumanOmni2.5-4v1_D_rs2230926-131_T_R_1857158011fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca01/30/1210/28/16137Genomicunknown
ss4909351471000GENOMES|20110521_exome_442945_chr6_138196066fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa02/10/1202/21/12137Genomicunknown
ss491392266EXOME_CHIP|nonsyn_108492_chr_6_138196066fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa03/05/1203/05/12137Genomicunknown
ss491897136CLINSEQ_SNP|SNV-chr6-138237759byFreqfwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/06/1209/05/14137Genomicunknown
ss537057799ILLUMINA|HumanOmni5-4v1_B_rs2230926-131_T_R_1885473761fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca06/22/1208/29/15146Genomicunknown
ss559561879TISHKOFF|snp_chr6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca11/22/1211/23/12138Genomicunknown
ss653855375SSMP|6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca12/14/1202/11/15138Genomicunknown
ss778859806ILLUMINA|HumanOmni25Exome-8v1_A_rs2230926-131_T_R_1865344384fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/30/1307/09/15146Genomicunknown
ss780854419ILLUMINA|HumanOmni25Exome-8v1_A_exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/30/1307/09/15146Genomicunknown
ss782963196ILLUMINA|HumanOmni2.5-4v1_H_rs2230926-131_T_R_1857158011fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/30/1307/28/15146Genomicunknown
ss783538423ILLUMINA|HumanOmniExpressExome-8v1_A_exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/31/1306/19/15146Genomicunknown
ss783925212ILLUMINA|HumanOmniExpressExome-8v1_A_rs2230926-131_T_R_1885473761fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/31/1306/19/15146Genomicunknown
ss825536848ILLUMINA|HumanCNV370v1_C_rs2230926-126_T_R_IFB1135379218:0fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca06/24/1311/21/14147Genomicunknown
ss832219436ILLUMINA|HumanOmniExpress-12v1_H_rs2230926-131_T_R_1857158011fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/17/1306/18/15146Genomicunknown
ss834320575ILLUMINA|HumanOmni2.5-8v1_A_rs2230926-131_T_R_1865344384fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/18/1307/28/15146Genomicunknown
ss974462130JMKIDD_LAB|KhoeSan_Exomes_chr6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/06/1403/06/14142Genomicunknown
ss983561244EVA-GONL|EVA-GONL_rs2230926fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca04/23/1404/24/14142Genomicunknown
ss1067483204JMKIDD_LAB|HGDP_exomes_chr6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca07/09/1407/09/14142Genomicunknown
ss1074079920JMKIDD_LAB|HGDP_WGS_chr6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca07/10/1407/11/14142Genomicunknown
ss13225087921000GENOMES|PHASE3_V1_34567569fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca08/16/1408/16/14142Genomicunknown
ss1397472809HAMMER_LAB|HAMMER_LAB_rs2230926fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/30/1409/30/14146Genomicunknown
ss1457610844CLINVAR|SCV000086364fwd/BG/Tacacagacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacacacgcaa11/23/1411/23/14142Genomicunknown
ss1581919407EVA_GENOME_DK|EVA_GENOME_DK_snv_rs2230926fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/19/1502/20/15144Genomicunknown
ss1584049292EVA_FINRISK|EVA_FINRISK_rs2230926fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/27/1502/27/15144Genomicunknown
ss1593133170EVA_DECODE|EVA_DECODE_6_138237759_1097218_rs2230926fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/02/1503/03/15144Genomicunknown
ss1616824895EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_138196066_19168853fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/04/1503/04/15144Genomicunknown
ss1659818928EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_138196066_19168853fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/04/1503/04/15144Genomicunknown
ss1688514986EVA_EXAC|EVA_EXAC_3559686fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/04/1503/04/15144Genomicunknown
ss1688514987EVA_EXAC|EVA_EXAC_3559687fwd/C/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/04/1503/04/15144Genomicunknown
ss1711144299EVA_MGP|EVA_XIMO_260059fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/09/1503/09/15144Genomicunknown
ss1712904354EVA_SVP|EVA_SVP_598721fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca03/12/1503/12/15144Genomicunknown
ss1752604171ILLUMINA|OmniExpressExome-8v1-1_B_exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/27/1506/09/15146Genomicunknown
ss1752604172ILLUMINA|OmniExpressExome-8v1-1_B_rs2230926-131_T_R_2087476579fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/27/1506/09/15146Genomicunknown
ss1804697839HAMMER_LAB|Hsieh_3709062fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca07/15/1507/16/15146Genomicunknown
ss1917811230ILLUMINA|HumanExome-12v1-1_B_exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca10/16/1510/16/15147Genomicunknown
ss1926807226WEILL_CORNELL_DGM|SNV:chr6:138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca10/16/1510/17/15147Genomicunknown
ss1946192709ILLUMINA|HumanCoreExome-12v1-0_C_exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca10/29/1510/29/15147Genomicunknown
ss1958954800ILLUMINA|exm581510-0_T_R_1921855528fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca11/13/1511/13/15147Genomicunknown
ss1966656199AMU|chr6_138196066fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca01/29/1601/29/16147Genomicunknown
ss2024061073JJLAB|SNP4563628fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca08/29/1608/30/16149Genomicunknown
ss2094967085ILLUMINA|Immuno_BeadChip_11419691_B_imm_6_138237759-1_T_R_1670197156fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/27/1609/27/16150Genomicunknown
ss2095191163ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_6_138237759-1_T_R_2310716527fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/27/1609/27/16150Genomicunknown
ss2095191164ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs2230926-138_T_R_2264358567fwd/BG/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca09/27/1609/27/16150Genomicunknown
ss2288888559HUMAN_LONGEVITY|HLI-6-137874929-T-Gfwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca11/18/1611/18/16150Genomicunknown
ss2457563277TOPMED|6_138196066_T/Gfwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca11/20/1611/20/16150Genomicunknown
ss2634518306ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs2230926-131_T_R_2131fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/02/1702/02/17151Genomicunknown
ss2634518307ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs2230926-131_T_R_20874765fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/02/1702/02/17151Genomicunknown
ss2634518308ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs2230926-131_T_R_2130fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/02/1702/02/17151Genomicunknown
ss2707886778GRF|rs2230926fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca02/13/1702/13/17151Genomicunknown
ss2736091395GNOMAD|exomes_rs2230926fwd/C/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/17/1705/17/17151Genomicunknown
ss2747711955GNOMAD|coding_rs2230926fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/17/1705/17/17151Genomicunknown
ss2845796262GNOMAD|rs2230926fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/18/1705/18/17151Genomicunknown
ss2985388220AFFY|Axiom_PsorMich_Affx-27789027fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/24/1705/24/17151Genomicunknown
ss2986014585AFFY|Axiom_Smokesc1_Affx-27789027fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/24/1705/24/17151Genomicunknown
ss3000043257SWEGEN|NC_000006.11:g.138196066T>Gfwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca05/30/1705/30/17151Genomicunknown
ss3022671709ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm581510-0_T_R_1921855528fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca06/28/1706/28/17151Genomicunknown
ss3513436297TOPMED|TOPMed_freeze_5?chr6:137,874,929fwd/G/Tgacttggtactgaggaaggcgctgtcagcacgctcaaggaaacagacaca10/05/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2230926|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 GAGCAGCAAT GCCAGTGCCT TCACCAGCAA ATCAAGGGAT GGTAGGAAGG GATAGGGCTT
 TAGAGATCAT CACTTACTGC CCTCATTTCA CAAGAGGAAA AATGCCCAGT GAACTTAAGG
 AATTTCCTCC AGGTCACCTA AACTAGTTAG GAGCAGACTT AAGCTAGAAC CAAGGTCCCC
 TGGCTCCTTT GCAGTTGGTG TCATTCATTA AAAAGAAGAA TAAAAAGAAC TCTTTTTTTC
 TTAAAGCTGT CATCATCTTG TGAAATATCA GTTTGCCCTT GACTAGGAAA TTACATCAAA
 TTAAACCATT CAGTCCCCTA GAATAGCAGT AGGGCTGGTT TATTCTGAAA ACCTTTGCTG
 GGTCTTACAT GCAGATAACT TGACTTTCCT TCTCTTCTCC TCCTTTCTGT CCTCAGGTGA
 CGGCAATTGC CTCATGCATG CCACTTCTCA GTACATGTGG GGCGTTCAGG ACACAGACTT
 GGTACTGAGG AAGGCGCTGT
 B
 CAGCACGCTC AAGGAAACAG ACACACGCAA CTTTAAATTC CGCTGGCAAC TGGAGTCTCT
 CAAATCTCAG GAATTTGTTG AAACGGGGCT TTGCTATGAT ACTCGGGTAG GTTTTTCCCC
 CTAATTATCT ACTAACAGAG CTCCATGGTG GGCATAGGGT ACCCCTGGGC GAGTCCCTGC
 CCTCTGGTAG CATCTGATGG ACTAGGTCAC ATGAATTTGG CTAAGCGAAG CATACTCAAT
 GGAAAACACC AGAAACCTCC AGTGGGACTC ACCCAAGGCT TTTGCCCTGC TTTTGGTTAG
 CAGATTCCCA GCTGTGGATC CGTTCCTGTA GCAGCGAGTC TTTTGATCAT GGCCTTTTCC
 ACTGGTGTTT TGTTGTTTTT CAGTTTGATT GCCCTTAGCT TTGCTGAGCC AGCCAGTAAG
 ATTAAGACAC GTGCCTCACC ATCCTCAGTC ACAAGTTTGG AATTTTTGTG AACATTTGGA
 TAAGGGGCTG CAATATGATA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_025741.14
dbSNP Blast Analysis
UniGene Cluster ID
211600
3D structure mapping
NP_006281  
OMIM
612378

  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.
SourceG/G
G/T
T/T
HWPC
G
T
ss116735769YRI 2IG 1.00000000 0.500000000.50000000
ss1322508792EAS 1008AF 0.050600000.94940001
EUR 1006AF 0.023900000.97610003
AFR 1322AF 0.409200010.59079999
AMR 694AF 0.077800000.92219996
SAS 978AF 0.029700000.97030002
ss1688514986ExAc_Aggregated_Populations121411AF 0.061262980.93873703
ss1688514987ExAc_Aggregated_Populations113974AF 0.00000877 0.99999124
ss202474163BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss222706825pilot_1_YRI_low_coverage_panel 118AF 0.500000000.50000000
ss233705554pilot_1_CEU_low_coverage_panel 120AF 0.041666670.95833331
ss23371171AFD_EUR_PANELEuropean 48IG 0.041666670.958333311.00000000 0.020833330.97916669
AFD_AFR_PANELAfrican American 46IG0.173913050.391304340.434782590.47950000 0.369565220.63043481
AFD_CHN_PANELAsian 48IG 0.041666670.958333311.00000000 0.020833330.97916669
ss240715121pilot_1_CHB+JPT_low_coverage_panel 120AF 0.150000010.85000002
ss3178111MITOGPOP6multiple 46IG0.086956520.130434780.782608690.02002200 0.152173910.84782606
ss342224054ESP_Cohort_Populations 4550GF0.052307690.223296700.724395630.00100000 0.163956050.83604395
ss44714052HapMap-CEUEuropean 226IG 0.053097340.946902631.00000000 0.026548670.97345132
HapMap-HCBAsian 86IG 0.162790700.837209281.00000000 0.081395350.91860467
HapMap-JPTAsian 172IG0.023255810.186046510.790697690.40278400 0.116279070.88372093
HapMap-YRISub-Saharan African 226IG0.203539820.486725660.309734521.00000000 0.446902660.55309737
HAPMAP-ASW 98IG0.142857150.306122450.551020380.09972100 0.295918380.70408165
HAPMAP-CHBAsian 82IG 0.146341460.853658561.00000000 0.073170730.92682928
HAPMAP-CHD 170IG 0.129411770.870588241.00000000 0.064705890.93529409
HAPMAP-GIH 176IG 0.056818180.943181811.00000000 0.028409090.97159094
HAPMAP-LWK 180IG0.066666670.566666660.366666670.02002200 0.349999990.64999998
HAPMAP-MEX 100IG 0.040000000.959999981.00000000 0.020000000.98000002
HAPMAP-MKK 286IG0.125874130.454545470.419580431.00000000 0.353146850.64685315
HAPMAP-TSI 176IG 0.079545450.920454561.00000000 0.039772730.96022725
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss48409725AGI_ASP populationmultiple 74IG0.054054060.297297300.648648620.65472100 0.202702700.79729730
ss491897136CSAgilent 1323GF0.002000000.066000000.932000040.58388200 0.035000000.96499997
ss7984949PGA-AFRICAN-PANELAfrican American 46IG0.173913050.391304340.434782590.47950000 0.369565220.63043481
PGA-EUROPEAN-PANELEuropean 46IG 0.043478260.956521751.00000000 0.021739130.97826087

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.115+/-0.2100000ALFRED: 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
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNYESYES

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