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Reference SNP (refSNP) Cluster Report: rs1805124                 ** With Pathogenic allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:C=0.2217/26713 (ExAC)
C=0.2304/1154 (1000 Genomes)
C=0.2463/3108 (GO-ESP)
C=0.2454/30817 (TOPMED)
HGVS Names
  • CM000665.2:g.38603929T>C
  • NC_000003.11:g.38645420T>C
  • NC_000003.12:g.38603929T>C
  • NG_008934.1:g.50744A>G
  • NM_000335.4:c.1673A>G
  • NM_001099404.1:c.1673A>G
  • NM_001099405.1:c.1673A>G
  • NM_001160160.1:c.1673A>G
  • NM_001160161.1:c.1673A>G
  • NM_001354701.1:c.1673A>G
  • NM_198056.2:c.1673A>G
  • NP_000326.2:p.His558Arg
  • NP_001092874.1:p.His558Arg
  • NP_001092875.1:p.His558Arg
  • NP_001153632.1:p.His558Arg
  • NP_001153633.1:p.His558Arg
  • NP_001341630.1:p.His558Arg
  • NP_932173.1:p.His558Arg
  • XP_011532293.1:p.His558Arg
  • XP_016862506.1:p.His558Arg
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 ss277092515 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1805124 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
ss2426046HGBASE|SNP000063262fwd/TA/Gacagcgcgggagagcgagagccacccacatcactgctggtgccctggccc11/07/0010/10/0389cDNAunknown
ss13685268BCM_SSAHASNP|chr3.NT_022517.16_38571045byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt11/05/0310/25/06119Genomicunknown
ss16333702KUCV|SCN5Ae12-2SNPfwd/TA/Gacagcacagcgcgggagagcgagagccacccacatcactgctggtgccctggcccctgcg11/25/0311/27/03120Genomic100 %
ss23686030PERLEGEN|afd4322954byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt08/10/0409/13/04123Genomicunknown
ss65625692RSG_JCVI|SCN5A-058866_058867-C_TbyFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt08/16/0612/16/06127Genomicunknown
ss66833479ILLUMINA|HumanHap300v1.1_rs1805124fwd/BA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg11/09/0611/09/06127Genomicunknown
ss67197145ILLUMINA|HumanHap550v1.1_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg11/14/0611/14/06127Genomicunknown
ss67586264ILLUMINA|HumanHap650Yv1.0_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg11/14/0611/14/06127Genomicunknown
ss68859373PERLEGEN|PGP04322954byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt01/30/0708/14/07127Genomicunknown
ss69365448PHARMGKB_PAT|PS203684_PA130023844_233byFreqfwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg03/22/0708/14/07127Genomicunknown
ss70458678RSG_UW|SCN5A-046535byFreqfwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg04/20/0708/14/07127Genomicunknown
ss70675356ILLUMINA|HumanHap550v3.0__rs1805124rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt04/20/0703/30/08130Genomicunknown
ss71238378ILLUMINA|HumanHap650Yv3.0_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg04/23/0704/23/07127Genomicunknown
ss71646522SI_EXO|NT_022517.17_38585424byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt05/07/0703/31/08127Genomicunknown
ss75888658ILLUMINA|ILMN_Human_1M_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg08/28/0708/29/07129Genomicunknown
ss79094330ILLUMINA|HumanHap300v2.0_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg04/18/0711/18/07130Genomicunknown
ss80166972HGSV|Cor18507_SNV_20070510.chr3_38620424rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt11/23/0711/24/07130Genomicunknown
ss83877903KRIBB_YJKIM|KHS563146fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg12/04/0712/06/07130Genomicunknown
ss86238136CORNELL|hCV11987864byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt01/21/0809/05/14129Genomicunknown
ss92061922BCMHGSC_JDW|JWB-1582050rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt02/26/0803/02/08129Genomicunknown
ss117053167ILLUMINA-UK|NA18507_000059081_NCBI36.1_chr3_38620424rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt01/18/0901/18/09130Genomic99 %
ss121814763ILLUMINA|HumanCNV370v1_C_rs1805124fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg04/14/0904/14/09131Genomicunknown
ss138820169ENSEMBL|ENSSNP6019438rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt05/18/0905/18/09131Genomicunknown
ss153737246ILLUMINA|Human610_Quadv1_B_rs1805124-128_B_R_1501686036rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt06/18/0906/19/09131Genomicunknown
ss159329903ILLUMINA|Human660W-Quad_v1_A_rs1805124-128_B_R_1501686036rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt07/06/0907/07/09131Genomicunknown
ss160463285ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1805124-128_B_R_1501686036rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt08/04/0910/02/09131Genomicunknown
ss162054343COMPLETE_GENOMICS|NA07022_36_chr3_38620424rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt09/28/0909/28/09132Genomicunknown
ss170816139ILLUMINA|HumanCNV370-Quadv3_C_rs1805124-128_B_R_1501686036rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt10/01/0910/03/09132Genomicunknown
ss172926531ILLUMINA|Human1M-Duov3_B_rs1805124-128_B_R_1501686036rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt10/01/0910/02/09132Genomicunknown
ss202421700BUSHMAN|BUSHMAN-chr3-38620423rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt02/16/1003/08/10132Genomicunknown
ss2200918391000GENOMES|pilot_1_YRI_1901522_chr3_38620424rev/C/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt04/22/1004/22/10132Genomicunknown
ss2317886291000GENOMES|pilot_1_CEU_1393258_chr3_38620424rev/C/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt05/01/1005/01/10132Genomicunknown
ss2392083501000GENOMES|pilot_1_CHB+JPT_1093427_chr3_38620424rev/C/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt05/01/1005/01/10132Genomicunknown
ss244238302OMICIA|2010_April_001_198_SCN5A_600163_0031rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt05/27/1008/29/12137Genomicunknown
ss244285190ILLUMINA|CVDSNP55v1_A_rs1805124rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt06/10/1006/10/10132Genomicunknown
ss277092515GMI|GMI_AK_SNP_1412724rev/C/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt12/16/1012/16/10137Genomicunknown
ss290491903PHARMGKB_PAT|PS207034_PA164155446_107byFreqrev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt01/21/1109/05/14134Genomicunknown
ss293043535PJP|SNP_2549893_chr3_38620424rev/C/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt01/21/1101/21/11134Genomicunknown
ss410846226ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr3_38620424fwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg06/07/1106/07/11135Genomicunknown
ss480301762ILLUMINA|HumanOmni2.5-4v1_B_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt01/30/1210/28/16137Genomicunknown
ss480312841ILLUMINA|HumanOmniExpress-12v1_C_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt01/30/1210/27/16137Genomicunknown
ss481068929ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt01/30/1208/28/15146Genomicunknown
ss484948674ILLUMINA|HumanOmni2.5-4v1_D_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt01/30/1210/28/16137Genomicunknown
ss487104924RBH_CV_BRU|NM_198056.2:c.1673A>Gfwd/TA/Gacagcacagcgggggagagcgagagccacccacatcactgctggtgccctggcccctgcg02/09/1203/09/12136Genomicunknown
ss4898714731000GENOMES|20110521_exome_368978_chr3_38645420rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt02/10/1202/21/12137Genomicunknown
ss491337450EXOME_CHIP|nonsyn_53677_chr_3_38645420rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt03/05/1203/05/12137Genomicunknown
ss491831558CLINSEQ_SNP|SNV-chr3-38620424byFreqrev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/06/1209/05/14137Genomicunknown
ss535729664ILLUMINA|HumanOmni5-4v1_B_kgp5338071-0_T_R_1799420690rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt06/22/1208/28/15146Genomicunknown
ss556556222TISHKOFF|snp_chr3_38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/22/1211/23/12138Genomicunknown
ss650230713SSMP|3_38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt12/14/1202/10/15138Genomicunknown
ss712509691NHLBI-ESP|ESP6500SI-chr3-38645420rev/BC/Tcgcaggggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgtgctgt02/20/1302/20/13138Genomicunknown
ss778841619ILLUMINA|HumanOmni25Exome-8v1_A_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/30/1307/09/15142Genomicunknown
ss780814942ILLUMINA|HumanOmni25Exome-8v1_A_exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/30/1307/09/15146Genomicunknown
ss782920644ILLUMINA|HumanOmni2.5-4v1_H_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/30/1307/28/15146Genomicunknown
ss783497083ILLUMINA|HumanOmniExpressExome-8v1_A_exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/31/1306/19/15146Genomicunknown
ss783883652ILLUMINA|HumanOmniExpressExome-8v1_A_rs1805124-128_B_R_1908737013rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/31/1306/19/15142Genomicunknown
ss825424848ILLUMINA|HumanCNV370v1_C_rs1805124-126_B_R_IFB1137711394:0rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt06/24/1311/21/14147Genomicunknown
ss832175773ILLUMINA|HumanOmniExpress-12v1_H_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt09/17/1306/18/15146Genomicunknown
ss834302177ILLUMINA|HumanOmni2.5-8v1_A_rs1805124-128_B_R_1690722189rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt09/18/1307/28/15142Genomicunknown
ss974447595JMKIDD_LAB|KhoeSan_Exomes_chr3_38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/06/1403/06/14142Genomicunknown
ss978491557EVA-GONL|EVA-GONL_rs1805124rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt04/23/1404/24/14142Genomicunknown
ss1067449666JMKIDD_LAB|HGDP_exomes_chr3_38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt07/09/1407/09/14142Genomicunknown
ss1070338542JMKIDD_LAB|HGDP_WGS_chr3_38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt07/10/1407/10/14142Genomicunknown
ss13036107101000GENOMES|PHASE3_V1_14860752rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt08/16/1408/16/14142Genomicunknown
ss1429392491DDI|DDI_rs1805124rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/04/1411/05/14144Genomicunknown
ss1579927950EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1805124rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt02/19/1502/20/15144Genomicunknown
ss1584026721EVA_FINRISK|EVA_FINRISK_rs1805124rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt02/27/1502/27/15144Genomicunknown
ss1587960452EVA_DECODE|EVA_DECODE_3_38620424_338085_rs1805124rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/02/1503/03/15144Genomicunknown
ss1606856471EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_3_38645420_8215544rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/04/1503/04/15144Genomicunknown
ss1649850504EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_3_38645420_8215544rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/04/1503/04/15144Genomicunknown
ss1686933349EVA_EXAC|EVA_EXAC_1848581rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/04/1503/04/15144Genomicunknown
ss1711012916EVA_MGP|EVA_XIMO_129455rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/09/1503/09/15144Genomicunknown
ss1712568765EVA_SVP|EVA_SVP_263310rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt03/12/1503/12/15144Genomicunknown
ss1752468405ILLUMINA|OmniExpressExome-8v1-1_B_exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/27/1506/09/15146Genomicunknown
ss1752468406ILLUMINA|OmniExpressExome-8v1-1_B_rs1805124-128_B_R_1908737013rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/27/1506/09/15146Genomicunknown
ss1799157980HAMMER_LAB|Hsieh_1575405rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt07/15/1507/15/15146Genomicunknown
ss1815616648EVA_MCP|MOLGENIS_CARDIO_PANEL.3:g38645420t>crev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt08/19/1508/19/15146Genomicunknown
ss1917765007ILLUMINA|HumanExome-12v1-1_B_exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt10/16/1510/16/15147Genomicunknown
ss1921736032WEILL_CORNELL_DGM|SNV:chr3:38645420rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt10/16/1510/17/15147Genomicunknown
ss1946079415ILLUMINA|HumanCoreExome-12v1-0_C_exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt10/29/1510/29/15147Genomicunknown
ss1958553788ILLUMINA|exm301164-0_T_R_1922157816rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/13/1511/13/15147Genomicunknown
ss1998374680ACHAKRAVARTILAB|SNV:chr3:38645420T>Crev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/20/1605/20/16147Genomicunknown
ss2021428366JJLAB|SNP1930921rev/BC/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt08/29/1608/30/16149Genomicunknown
ss2149496576USC_VALOUEV|NC_000003.11:g.38645420T>Crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/17/1611/17/16150Genomicunknown
ss2250744494HUMAN_LONGEVITY|HLI-3-38603929-T-Crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/18/1611/18/16150Genomicunknown
ss2417823242TOPMED|3_38645420_T/Crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt11/19/1611/19/16150Genomicunknown
ss2633938179ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1805124-128_B_R_19087370rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt02/02/1702/02/17151Genomicunknown
ss2704866248GRF|rs1805124rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt02/13/1702/13/17151Genomicunknown
ss2733640076GNOMAD|exomes_rs1805124rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/17/1705/17/17151Genomicunknown
ss2746975501GNOMAD|coding_rs1805124rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/17/1705/17/17151Genomicunknown
ss2791815384GNOMAD|rs1805124rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/18/1705/18/17151Genomicunknown
ss2985252159AFFY|Axiom_PsorMich_Affx-22276365rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/24/1705/24/17151Genomicunknown
ss2985874857AFFY|Axiom_Smokesc1_Affx-22276365rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/24/1705/24/17151Genomicunknown
ss2992154261SWEGEN|NC_000003.11:g.38645420T>Crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt05/30/1705/30/17151Genomicunknown
ss3022229667ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm301164-0_T_R_1922157816rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt06/28/1706/28/17151Genomicunknown
ss3023059246EVA_SAMSUNG_MC|EXOMES.3:g38645420t>crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt07/03/1707/03/17151Genomicunknown
ss3024476210BIOINF_KMB_FNS_UNIBA|3.38603929T>Crev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt07/05/1707/05/17151Genomicunknown
ss3344978469CSHL|rs1805124rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt10/02/1710/02/17151Genomicunknown
ss3387917643TOPMED|TOPMed_freeze_5?chr3:38,603,929rev/C/Tgggccagggcaccagcagtgatgtgggtggctctcgctctcccccgctgt10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1805124|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TGCCCCAGGT CCTCCTCAGG CCGGGCCTGT CTGCAACACC AGGAGCCTTC CTGCCTCCTT
 CTCCCTTGCC CAGCCTGAGC TCTAACTCCA AGCCCAGTTA AGTTTCAGGC TCCCAGCTCC
 AGAGACATAG ATTTGAGGGG AGTAGACATC CCAGAAGATA CAGGATTATC TCTAACCCCA
 CATCCCCTCT TCCAAATACC CCCGGCCCAA CCCACCTGGT TCCTGTGTGG CCAAAAAAGC
 CCTCAATGCT CTGAGAAGTT TAGCTGAGGC CAGTGGCACA AAAGACAGGC TGGGAGCACA
 TGAAGAGCAC ATGTCATGGT CGTGTCCCCT CTCCTCATGC CCTTAGAATC ATCTCAGCCT
 CACCCGTGGC CTCAGCAGGA CTTCTATGAA GCCACGTTCC AGCCGCGGGA GCATTTTCAC
 CTTTCGCAGG CGAGACCTGG GTTCTGAAGC AGATTTTGCA GATGATGAAA ACAGCACAGC
 GGGGGAGAGC GAGAGCCACC
 R
 CACATCACTG CTGGTGCCCT GGCCCCTGCG CCGGACCAGT GCCCAGGGAC AGCCCAGTCC
 CGGAACCTCG GCTCCTGGCC ACGCCCTCCA TGGCAAAAAG AACAGCACTG TGGACTGCAA
 TGGGGTGGTC TCATTACTGG GGGCAGGCGA CCCAGAGGCC ACATCCCCAG GAAGCCACCT
 CCTCCGCCCT GTGATGCTAG AGCACCCGCC AGACACGGTG AGCCAGCCCC GAGATGCAGG
 CACCACAGCA GGTCTGGTCT CCCAAACTGA TCACCAGTGC CAAGTCCAAA AATACACGTC
 AAATATTTGT TGAGCACCTA CTGTGTGCTG GGCTCTAGGT GCATAAACTT ACAAAAAAAA
 AACTGGGCCC TCATAGAGCA TCCATGCTAA TGGGGACAGA CAGACAAAAC TCAAAAGAAA
 GCCAGGTGCG ATGGCTCACG CCTGTAATCC CAGCACTTTG GGAGGCCGAG GTGGGGAGAT
 CACCTGAGGT CAGGAGTTCA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517.17
dbSNP Blast Analysis
UniGene Cluster ID
517898
OMIM
600163.0031

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1805124 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
ss117053167YRI 2IG 1.00000000 0.500000000.50000000
ss1303610710EAS 1008AF 0.898800020.10120000
EUR 1006AF 0.783300040.21670000
AFR 1322AF 0.690599980.30939999
AMR 694AF 0.772300000.22770001
SAS 978AF 0.727000000.27300000
ss138820169ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss162054343CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss1686933349ExAc_Aggregated_Populations121010AF 0.778861220.22113875
ss220091839pilot_1_YRI_low_coverage_panel 118AF 0.694915240.30508474
ss231788629pilot_1_CEU_low_coverage_panel 120AF 0.808333340.19166666
ss23686030AFD_EUR_PANELEuropean 42IG0.809523820.19047619 1.000000000.904761910.09523810
AFD_AFR_PANELAfrican American 38IG0.526315810.368421050.105263160.654721000.710526290.28947368
AFD_CHN_PANELAsian 44IG0.863636370.13636364 1.000000000.931818190.06818182
ss239208350pilot_1_CHB+JPT_low_coverage_panel 120AF 0.883333330.11666667
ss290491903PA164155447 376AF 0.816489340.18351063
ss491831558CSAgilent 568GF0.596596600.340340350.063063060.438578000.766766790.23323323
ss65625692R31_MEXLA 94IG0.680851040.276595740.042553190.654721000.819148960.18085106
R31_HANLA 94IG0.829787250.17021276 1.000000000.914893630.08510638
R31_AAAfrican American 94IG0.489361700.468085110.042553190.250592000.723404230.27659574
R31_CAUEuropean 94IG0.638297860.340425520.021276600.527089000.808510660.19148937
ss69365448PA130023845 638AF 0.796238240.20376176
ss70458678HER_ASIAN-PANEL 36AF 0.944444420.05555556
HER_HISP-PANEL 36AF 0.750000000.25000000
HER_CEPH-PANEL 364AF 0.771978020.22802198
HER_YORUB-PANEL 48AF 0.770833310.22916667
ss71646522HapMap-CEUEuropean 224IG0.651785730.339285700.008928570.099721000.821428600.17857143
HapMap-HCBAsian 86IG0.837209280.16279070 1.000000000.918604670.08139535
HapMap-JPTAsian 170IG0.741176490.25882354 0.527089000.870588240.12941177
HapMap-YRISub-Saharan African 224IG0.464285700.473214300.062500000.200325000.700892870.29910713
HAPMAP-ASW 98IG0.551020380.428571430.020408160.200325000.765306120.23469388
HAPMAP-CHBAsian 82IG0.731707330.26829270 0.654721000.865853670.13414635
HAPMAP-CHD 170IG0.835294130.16470589 0.751830000.917647060.08235294
HAPMAP-GIH 176IG0.647727250.329545470.022727270.479500000.812500000.18750000
HAPMAP-LWK 180IG0.522222220.400000010.077777781.000000000.722222210.27777779
HAPMAP-MEX 100IG0.720000030.259999990.020000001.000000000.850000020.15000001
HAPMAP-MKK 284IG0.429577470.443661960.126760561.000000000.651408430.34859154
HAPMAP-TSI 176IG0.590909060.352272720.056818181.000000000.767045440.23295455
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss86238136AGI_ASP_populationmultiple 76IG0.631578920.289473680.078947370.317310000.776315810.22368421

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.345+/-0.2310000ALFRED: 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
UNKNOWNYESYES

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