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Reference SNP (refSNP) Cluster Report: rs1799983                 ** 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:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:G:germline
T:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Pathogenic allele [ClinVar]
MAF/MinorAlleleCount:T=0.2470/29613 (ExAC)
T=0.1763/883 (1000 Genomes)
T=0.2534/3292 (GO-ESP)
T=0.2384/29937 (TOPMED)
HGVS Names
  • CM000669.2:g.150999023T>A
  • CM000669.2:g.150999023T>G
  • NC_000007.13:g.150696111T>G
  • NC_000007.14:g.150999023T>A
  • NC_000007.14:g.150999023T>G
  • NG_011992.1:g.12965T>A
  • NG_011992.1:g.12965T>G
  • NM_000603.4:c.894T>A
  • NM_000603.4:c.894T>G
  • NM_001160109.1:c.894T>A
  • NM_001160109.1:c.894T>G
  • NM_001160110.1:c.894T>A
  • NM_001160110.1:c.894T>G
  • NM_001160111.1:c.894T>A
  • NM_001160111.1:c.894T>G
  • NP_000594.2:p.Asp298Glu
  • NP_001153581.1:p.Asp298Glu
  • NP_001153582.1:p.Asp298Glu
  • NP_001153583.1:p.Asp298Glu
  • XP_006716065.1:p.Asp298Glu
  • XP_016867721.1:p.Asp298Glu
  • XP_016867722.1:p.Asp92Glu
  • XP_016867723.1:p.Asp298Glu
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 ss279588936 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1799983 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
ss2420039HGBASE|SNP000002600fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/07/0010/10/0389Genomicunknown
ss3332937TSC-CSHL|TSC1541425byFreqrev/TA/Cctcggggggcagaaggaagagttctgggggtcatctggggcctgcagcagcaggggcagc09/20/0105/16/04100Genomicunknown
ss3602707SC_JCM|AC010973.4_15934fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/24/0110/10/03100Genomicunknown
ss4916260WIPGA|WI-39898fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag07/12/0210/10/03108cDNAunknown
ss5112360PGA-UW-FHCRC|NOS3-007164byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/06/0204/07/04108Genomicunknown
ss12675558SNP500CANCER|NOS3-01byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/05/0304/07/04118Genomicunknown
ss17927645CSHL-HAPMAP|CSHL-HuCC-200402.chr7.NT_007914.13_11272127fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag02/19/0403/04/04120Genomicunknown
ss22607502SSAHASNP|WGSA-200403-chr7.chr7.NT_007914.13_11272127fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/21/0403/21/04123Genomicunknown
ss22886247IMCJ-GDT|IMCJ-NOS3_3-GTfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/22/0403/22/04123Genomicunknown
ss22915286SSAHASNP|AACC-200403.chr7.NT_007914.13_11272127fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/22/0403/22/04123Genomicunknown
ss24796688SEQUENOM|sqnm142285byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag06/18/0408/05/04123cDNAunknown
ss43016605ABI|hCV3219460fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag07/18/0507/18/05126Genomicunknown
ss52088162PGA-UW-FHCRC|NOS3_007164byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag04/28/0608/14/07127Genomicunknown
ss68074273SHGC|1306byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag11/15/0612/16/06127Genomicunknown
ss69364699PHARMGKB_GOFMOP|PS204246_PA134654023_82byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/22/0708/14/07127Genomicunknown
ss69365825PHARMGKB_COBRA|PS205066_PA135948554_161byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/22/0708/14/07127Genomicunknown
ss69369917PHARMGKB_PARC|PS203293_PA128452229_7164byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/22/0708/14/07127Genomicunknown
ss76874315CGM_KYOTO|720444fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/12/0709/12/07129cDNAunknown
ss79026806HGSV|Cor18507_SNV_20070510.chr7_150133759fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag10/19/0710/21/07129Genomicunknown
ss83240238HGSV|Cor18555_SNV_20070510.chr7_150133759fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag11/27/0712/04/07130Genomicunknown
ss86270795CORNELL|hCV3219460byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag01/21/0809/05/14129Genomicunknown
ss93791418BCMHGSC_JDW|JWB-2393286fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag02/26/0803/05/08129Genomicunknown
ss98196060HUMANGENOME_JCVI|1103652740641fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/31/0803/31/08130Genomicunknown
ss104480343BGI|BGI_rs1799983fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag06/08/0806/18/09131Genomicunknown
ss105110333PHARMGKB_INVEST|PS207723_PA159018371_109byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag07/23/0809/05/14130Genomicunknown
ss1126421271000GENOMES|CEU.trio.12.15.2008_1882815_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag12/17/0812/17/08130Genomicunknown
ss1146523391000GENOMES|NA19240_2008_12_16_1699177_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag12/18/0812/18/08130Genomicunknown
ss116385434ILLUMINA-UK|NA18507_000187841_NCBI36.1_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag01/16/0901/17/09130Genomic99 %
ss143092940ENSEMBL|ENSSNP13383702fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag06/05/0906/05/09131Genomicunknown
ss144137658ENSEMBL|ENSSNP8860173fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag12/08/0810/20/09131Genomicunknown
ss155688821GMI|GMI_SNP_47933280fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag06/24/0906/24/09131Genomicunknown
ss159716094SEATTLESEQ|NOS3-150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag07/10/0907/10/09131Genomicunknown
ss162844292COMPLETE_GENOMICS|NA07022_36_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/28/0909/29/09132Genomicunknown
ss165683304COMPLETE_GENOMICS|NA19240_36_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/29/0909/30/09132Genomicunknown
ss167259444COMPLETE_GENOMICS|NA20431_36_chr7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag09/30/0909/30/09132Genomicunknown
ss172924345ILLUMINA|Human1M-Duov3_B_rs1799983-128_T_R_1510671092rev/TA/Cctcggggggcagaaggaagagttctgggggtcatctggggcctgcagcagcaggggcagc10/01/0910/02/09132Genomicunknown
ss198489170BUSHMAN|BUSHMAN-chr7-150327043byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag02/16/1009/05/14132Genomicunknown
ss208353139BCM-HGSC-SUB|BCM_CMT_1011-1587253fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/15/1003/19/10132Genomicunknown
ss2234136111000GENOMES|pilot_1_YRI_5223294_chr7_150327044fwd/G/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag04/22/1004/22/10132Genomicunknown
ss2342253911000GENOMES|pilot_1_CEU_3830020_chr7_150327044fwd/G/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag05/01/1005/01/10132Genomicunknown
ss2411246591000GENOMES|pilot_1_CHB+JPT_3009736_chr7_150327044fwd/G/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag05/01/1005/01/10132Genomicunknown
ss244238635OMICIA|2010_April_001_048_NOS3_163729_0001fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag05/27/1005/28/10132Genomicunknown
ss254764961BL|SNP164481_7_150327044fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag08/19/1008/19/10134Genomicunknown
ss275515620OMIM-CURATED-RECORDS|4298fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag11/24/1011/24/10133Genomicunknown
ss279588936GMI|GMI_AK_SNP_3909185fwd/G/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag12/16/1012/16/10137Genomicunknown
ss294002834PJP|SNP_3509192_chr7_150327044fwd/G/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag01/21/1101/21/11134Genomicunknown
ss342250109NHLBI-ESP|ESP2500-chr7-150696111byFreqfwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/25/1109/05/14134Genomicunknown
ss410916043ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs1799983rev/TA/Cctcggggggcagaaggaagagttctgggggtcatctggggcctgcagcagcaggggcagc06/07/1106/07/11135Genomicunknown
ss4909573351000GENOMES|20110521_exome_465133_chr7_150696111fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag02/10/1202/21/12137Genomicunknown
ss491408281EXOME_CHIP|nonsyn_124507_chr_7_150696111fwd/BG/Tgctgcccctgctgctgcaggccccagatgacccccagaactcttccttctgccccccgag03/05/1203/05/12137Genomicunknown
ss491918136CLINSEQ_SNP|SNV-chr7-150327044byFreqfwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/06/1209/05/14137Genomicunknown
ss560399546TISHKOFF|snp_chr7_150696111fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/22/1211/23/12138Genomicunknown
ss654813333SSMP|7_150696111fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc12/14/1202/11/15138Genomicunknown
ss984958660EVA-GONL|EVA-GONL_rs1799983fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc04/23/1404/24/14142Genomicunknown
ss1067494095JMKIDD_LAB|HGDP_exomes_chr7_150696111fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc07/09/1407/09/14142Genomicunknown
ss1075100250JMKIDD_LAB|HGDP_WGS_chr7_150696111fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc07/10/1407/11/14142Genomicunknown
ss13277422981000GENOMES|PHASE3_V1_40017916fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc08/16/1408/16/14142Genomicunknown
ss1431329641DDI|DDI_rs1799983fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/04/1411/05/14144Genomicunknown
ss1582463395EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1799983fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc02/19/1502/20/15144Genomicunknown
ss1594549086EVA_DECODE|EVA_DECODE_7_150327044_1157286_rs1799983fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/02/1503/03/15144Genomicunknown
ss1619533917EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_7_150696111_22151663fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/04/1503/04/15144Genomicunknown
ss1662527950EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_7_150696111_22151663fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/04/1503/04/15144Genomicunknown
ss1689027116EVA_EXAC|EVA_EXAC_4111419fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/04/1503/04/15144Genomicunknown
ss1711186171EVA_MGP|EVA_XIMO_301931fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/09/1503/09/15144Genomicunknown
ss1805293105HAMMER_LAB|Hsieh_4306688fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc07/15/1507/16/15146Genomicunknown
ss1928221535WEILL_CORNELL_DGM|SNV:chr7:150696111fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc10/16/1510/17/15147Genomicunknown
ss1959065898ILLUMINA|7:150696111-TG-0_T_R_2299836063fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/13/1511/13/15147Genomicunknown
ss2024799748JJLAB|SNP5302303fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc08/29/1608/30/16149Genomicunknown
ss2094832291ILLUMINA|Immuno_BeadChip_11419691_B_rs1799983-131_T_R_1858938043fwd/BG/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc09/27/1609/27/16150Genomicunknown
ss2153023463USC_VALOUEV|NC_000007.13:g.150696111T>Gfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/17/1611/17/16150Genomicunknown
ss2299068059HUMAN_LONGEVITY|HLI-7-150999023-T-Gfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/18/1611/18/16150Genomicunknown
ss2468613133TOPMED|7_150696111_T/Gfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc11/20/1611/20/16150Genomicunknown
ss2626884895SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3389727fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc01/06/1701/06/17151Genomicunknown
ss2635177879ILLUMINA|Cancer_BeadChip_11459870_A_rs1799983-128_T_R_1614289530fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc02/02/1702/02/17151Genomicunknown
ss2708750975GRF|rs1799983fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc02/13/1702/13/17151Genomicunknown
ss2711124723ILLUMINA|Consortium-OncoArray_15047405_A_rs1799983-131_T_R_1885763283fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc03/22/1703/22/17151Genomicunknown
ss2736892781GNOMAD|exomes_rs1799983fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc05/17/1705/17/17151Genomicunknown
ss2747964094GNOMAD|coding_rs1799983fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc05/17/1705/17/17151Genomicunknown
ss2860854775GNOMAD|rs1799983fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc05/19/1705/19/17151Genomicunknown
ss3002296077SWEGEN|NC_000007.13:g.150696111T>Gfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc05/30/1705/30/17151Genomicunknown
ss3022795140ILLUMINA|MEGA_Consortium_v2_15070954_A2_7:150696111-TG-0_T_R_2299836063fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc06/28/1706/28/17151Genomicunknown
ss3022795141ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs1799983_fwd_dup1-138_B_F_23fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc06/28/1706/28/17151Genomicunknown
ss3022795142ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs1799983_fwd_f2bt_dup1-138_Bfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc06/28/1706/28/17151Genomicunknown
ss3022795143ILLUMINA|MEGA_Consortium_v2_15070954_A2_seq-rs1799983_rev_dup1-138_T_R_23fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc06/28/1706/28/17151Genomicunknown
ss3026188887BIOINF_KMB_FNS_UNIBA|7.150999023T>Gfwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc07/05/1707/05/17151Genomicunknown
ss3347917675CSHL|rs1799983fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc10/02/1710/02/17151Genomicunknown
ss3548434437TOPMED|TOPMed_freeze_5?chr7:150,999,023-01fwd/A/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc10/06/1710/06/17151Genomicunknown
ss3548434438TOPMED|TOPMed_freeze_5?chr7:150,999,023-02fwd/G/Tccctgctgctgcaggccccagatgacccccagaactcttccttctgcccc10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1799983|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TCCCCATGCG TGCCAGCTCG GCCATCACAG TGTTCCCGCA GCGCTGCCCT GGCCGAGGAG
 ACTTCCGAAT CTGGAACAGC CAGCTGGTGC GCTACGCGGG CTACCGGCAG CAGGATGGCT
 CTGTGCGGGG GGACCCAGCC AACGTGGAGA TCACCGAGGT GGGCACCGAG GGCCACCCAT
 GAGGGTGTCC CCAAGGTGGA GAATGAGGAA ACCAGTGGGA GAAGGCTCGG GGGATCCAGG
 CAGGAAGAGG GGAGCCTCGG TGAGATAAAG GATGAAAAAC ACCAAAGGAG GGGTGCCTGG
 GTGGTCACGG AGACCCAGCC AATGAGGGAC CCTGGAGATG AAGGCAGGAG ACAGTGGATG
 GAGGGGTCCC TGAGGAGGGC ATGAGGCTCA GCCCCAGAAC CCCCTCTGGC CCACTCCCCA
 CAGCTCTGCA TTCAGCACGG CTGGACCCCA GGAAACGGTC GCTTCGACGT GCTGCCCCTG
 CTGCTGCAGG CCCCAGATGA
 D
 CCCCCAGAAC TCTTCCTTCT GCCCCCCGAG CTGGTCCTTG AGGTGCCCCT GGAGCACCCC
 ACGTGAGCAC CAAAGGGATT GACTGGGTGG GATGGAGGGG GCCATCCCTG AGCCTCTCAA
 GAAGGGCCTG CAAGGGGGTG CTGATCCCAC ACCCCAACAC CCCCAGGCTG GAGTGGTTTG
 CAGCCCTGGG CCTGCGCTGG TACGCCCTCC CGGCAGTGTC CAACATGCTG CTGGAAATTG
 GGGGCCTGGA GTTCCCCGCA GCCCCCTTCA GTGGCTGGTA CATGAGCACT GAGATCGGCA
 CGAGGAACCT GTGTGACCCT CACCGCTACA ACATCCTGGA GGTGAGGTGC GGGATGGGGC
 TCGGGCACCG AATGCACCTG TCCAAGGCAG GAGTCTGGCT CTCACTCCAT CCCCAAAATG
 CCAGCCACGG GGACAATCAG AGCAGGTCCA GGGTTGCCTC CTAAATGGGA ACTGAGGACA
 AGCTCTAGAA CCACTGAAGC

  NCBI Resource Links back to top
Submitter-Referenced
dbSTSGenBank
sqnm142285 NT_007914.14 ABBA01035168 D26607
dbSNP Blast Analysis
UniGene Cluster ID
511603
3D structure mapping
NP_000594  NP_001153581  NP_001153582  NP_001153583  
OMIM
163729.0001

  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.
SourceG/G
G/T
T/T
HWPG
T
ss105110333PA159018372 2150AF 0.709302310.29069766
ss116385434YRI 2IG1.00000000 1.00000000
ss12675558P1 202AF0.672999980.277000010.050000000.342782000.812000040.18799999
CAUC1 60AF0.467000010.400000010.133000000.654721000.667000000.33300000
AFR1 48AF0.833000000.16700000 0.654721000.917000000.08300000
HISP1 46AF0.652000010.34799999 0.317310000.825999980.17399999
PAC1 48AF0.792000000.167000000.041000000.254213000.875000000.12500000
ss1327742298EAS 1008AF 0.870000000.13000000
EUR 1006AF 0.656100030.34390000
AFR 1322AF 0.929699960.07030000
AMR 694AF 0.785300020.21470000
SAS 978AF 0.832300010.16770001
ss143092940ENSEMBL_Watson 2IG1.00000000 1.00000000
ss144137658ENSEMBL_Venter 2IG1.00000000 1.00000000
ss162844292CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss165683304YRISub-Saharan African 2IG1.00000000 1.00000000
ss167259444PGP 2IG 1.00000000 0.500000000.50000000
ss1689027116ExAc_Aggregated_Populations120814AF 0.751452620.24854736
ss198489170BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss223413611pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss234225391pilot_1_CEU_low_coverage_panel 120AF 0.608333350.39166668
ss241124659pilot_1_CHB+JPT_low_coverage_panel 120AF 0.925000010.07500000
ss24796688CEPH 184AF 0.630000000.37000000
ss3332937CEPH 184AF 0.400000010.60000002
HapMap-CEUEuropean 120IG0.400000010.516666650.083333340.250592000.658333360.34166667
HapMap-HCBAsian 90IG0.777777790.22222222 0.751830000.888888900.11111111
HapMap-JPTAsian 88IG0.863636370.13636364 1.000000000.931818190.06818182
HapMap-YRISub-Saharan African 120IG0.866666670.13333334 1.000000000.933333340.06666667
CABG_NORTHAMERICAN 2114GF0.471144740.417218540.111636710.200325000.679754020.32024598
ss342250109ESP_Cohort_Populations 4480GF0.587499980.343750000.068750000.004998000.759374980.24062499
ss491918136CSAgilent 1265GF0.451999990.447000000.101000000.654721000.675499980.32449999
ss5112360PGA-AFRICAN-PANELAfrican American 44IG0.727272750.27272728 0.751830000.863636370.13636364
PGA-EUROPEAN-PANELEuropean 44IG0.227272730.545454560.227272730.751830000.500000000.50000000
ss52088162HSP_GENO_PANEL 120IG0.666666690.316666660.016666670.479500000.824999990.17500000
YRI_GENO_PANELSub-Saharan African 118IG0.864406760.13559322 1.000000000.932203410.06779661
AAM_GENO_PANELAfrican American 124IG0.677419360.306451620.016129030.527089000.830645140.16935484
CEU_GENO_PANELEuropean 118IG0.406779650.508474590.084745760.317310000.661016940.33898306
CHB_GENO_PANELAsian 90IG0.777777790.22222222 0.751830000.888888900.11111111
JPT_GENO_PANELAsian 88IG0.863636370.13636364 1.000000000.931818190.06818182
ss68074273R24 48AF 0.810000000.19000000
ss69364699PA134654024 696AF 0.668103460.33189654
ss69365825PA135948555 200AF 0.735000010.26499999
ss69369917PA128452230 94AF 0.702127640.29787233
ss86270795AGI_ASP_populationmultiple 48IG0.500000000.291666660.208333330.099721000.645833310.35416666
ss98196060J. Craig Venter 2IG1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.372+/-0.2180000ALFRED: 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
UNKNOWNYESYES

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