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Reference SNP (refSNP) Cluster Report: rs1041983                 ** With drug-response allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:With drug-response allele [ClinVar]
MAF/MinorAlleleCount:T=0.3449/41762 (ExAC)
T=0.3974/1990 (1000 Genomes)
T=0.3574/4648 (GO-ESP)
T=0.3636/45657 (TOPMED)
HGVS Names
  • CM000670.2:g.18400285C>T
  • NC_000008.10:g.18257795C>T
  • NC_000008.11:g.18400285C>T
  • NG_012246.1:g.14041C>T
  • NM_000015.2:c.282C>T
  • NP_000006.2:p.Tyr94=
  • XP_016868427.1:p.Tyr94=
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 ss279717734 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1041983 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
ss1508852LEE|1665fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/13/0010/10/0386cDNAunknown
ss2420889HGBASE|SNP000008062fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/07/0010/10/0389Genomicunknown
ss5586797SNP500CANCER|NAT2-05byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/26/0204/07/04116Genomicunknown
ss6311208RIKENSNPRC|ssj0003466fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc01/15/0310/10/03111Genomicunknown
ss28497869MGC_GENOME_DIFF|37552654-C6068716Tfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc08/20/0408/20/04126cDNAunknown
ss28512666MGC_GENOME_DIFF|BC015878x37552654-C6068716Tfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc08/25/0408/25/04126cDNAunknown
ss52067226SI_EXO|NT_030737.9_6102723byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc03/29/0608/14/07127Genomicunknown
ss65732322ILLUMINA|Human1-rs1041983fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc10/10/0610/10/06127Genomicunknown
ss66858967EGP_SNPS|NAT2_010352byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc11/09/0612/16/06127Genomicunknown
ss70456613EGP_SNPS|NAT2-010352byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc04/19/0708/14/07127Genomicunknown
ss74980700ILLUMINA|ILMN_Human_1M_rs1041983fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc08/28/0708/29/07129Genomicunknown
ss76874089CGM_KYOTO|11623fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/12/0709/12/07129cDNAunknown
ss83381656HGSV|Cor19240_SNV_20070510.chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc11/30/0712/04/07130Genomicunknown
ss86272062CORNELL|hCV8684085byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc01/21/0809/05/14129Genomicunknown
ss93848828BCMHGSC_JDW|JWB-2436463fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc02/26/0803/05/08129Genomicunknown
ss99307905SHGC|3129byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc04/17/0809/05/14130Genomicunknown
ss105603530BGI|BGI_rs1041983fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/10/0806/18/09130Genomicunknown
ss1128808731000GENOMES|CEU.trio.12.15.2008_1943855_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc12/18/0812/18/08130Genomicunknown
ss1150750691000GENOMES|NA19240_2008_12_16_1752286_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc12/19/0812/19/08130Genomicunknown
ss115861052ILLUMINA-UK|NA18507_000042489_NCBI36.1_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc01/16/0901/16/09130Genomic99 %
ss119379386KRIBB_YJKIM|KHS1541633fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc02/04/0902/04/09131Genomicunknown
ss152722299ILLUMINA|Human610_Quadv1_B_rs1041983-128_B_F_1513917115fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc06/18/0906/19/09131Genomicunknown
ss156100866GMI|GMI_SNP_29578707fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc06/24/0906/24/09131Genomicunknown
ss159122877ILLUMINA|Human660W-Quad_v1_A_rs1041983-128_B_F_1513917115fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc07/06/0907/06/09131Genomicunknown
ss159716512SEATTLESEQ|NAT2-18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc07/10/0907/10/09131Genomicunknown
ss159891756ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1041983-128_B_F_1513917115fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc08/04/0910/01/09131Genomicunknown
ss162207614COMPLETE_GENOMICS|NA07022_36_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/28/0909/28/09132Genomicunknown
ss164094685COMPLETE_GENOMICS|NA19240_36_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc09/29/0909/29/09132Genomicunknown
ss170052759ILLUMINA|Human1M-Duov3_B_rs1041983-128_B_F_1513917115fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc10/01/0910/01/09132Genomicunknown
ss198867399BUSHMAN|BUSHMAN-chr8-18302074fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc02/16/1003/06/10132Genomicunknown
ss2235763881000GENOMES|pilot_1_YRI_5386071_chr8_18302075fwd/C/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc04/22/1004/22/10132Genomicunknown
ss2343458611000GENOMES|pilot_1_CEU_3950490_chr8_18302075fwd/C/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc05/01/1005/01/10132Genomicunknown
ss2412218321000GENOMES|pilot_1_CHB+JPT_3106909_chr8_18302075fwd/C/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc05/01/1005/01/10132Genomicunknown
ss254157056BL|SNP37518_8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc08/19/1008/19/10134Genomicunknown
ss279717734GMI|GMI_AK_SNP_4037987fwd/C/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc12/16/1012/16/10137Genomicunknown
ss342253601NHLBI-ESP|ESP2500-chr8-18257795byFreqfwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc03/25/1109/05/14134Genomicunknown
ss410878051ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302075fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc06/07/1106/07/11135Genomicunknown
ss479262019ILLUMINA|HumanOmni2.5-4v1_B_rs1041983-128_B_F_1612283268fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca01/30/1210/29/16137Genomicunknown
ss479264963ILLUMINA|HumanOmniExpress-12v1_C_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca01/30/1210/27/16137Genomicunknown
ss479632864ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca01/30/1208/28/15146Genomicunknown
ss484431713ILLUMINA|HumanOmni2.5-4v1_D_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca01/30/1210/28/16137Genomicunknown
ss4909607171000GENOMES|20110521_exome_468515_chr8_18257795fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc02/10/1202/21/12137Genomicunknown
ss491410756EXOME_CHIP|ESP.rq_126982_chr_8_18257795fwd/BC/Ttcagaccacaatgttaggagggtatttttaatccctccagttaacaaatacagcactggc03/05/1203/05/12137Genomicunknown
ss491921836CLINSEQ_SNP|SNV-chr8-18302075byFreqfwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/06/1209/05/14137Genomicunknown
ss536554766ILLUMINA|HumanOmni5-4v1_B_kgp9976868-0_B_F_1905113123fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca06/22/1208/29/15146Genomicunknown
ss536603399ILLUMINA|HumanOmni5-4v1_B_rs1041983-131_B_F_1885767274fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca06/22/1208/29/15146Genomicunknown
ss560588639TISHKOFF|snp_chr8_18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/22/1211/23/12138Genomicunknown
ss655024496SSMP|8_18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca12/14/1202/12/15138Genomicunknown
ss778355409ILLUMINA|HumanOmni25Exome-8v1_A_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/30/1307/10/15146Genomicunknown
ss782662315ILLUMINA|HumanOmni2.5-4v1_H_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/30/1307/29/15146Genomicunknown
ss783631253ILLUMINA|HumanOmniExpressExome-8v1_A_rs1041983-131_B_F_1885767274fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/31/1306/19/15146Genomicunknown
ss831912839ILLUMINA|HumanOmniExpress-12v1_H_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca09/17/1306/19/15146Genomicunknown
ss833810144ILLUMINA|HumanOmni2.5-8v1_A_rs1041983-131_B_F_1854918730fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca09/18/1307/29/15146Genomicunknown
ss974467363JMKIDD_LAB|KhoeSan_Exomes_chr8_18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/06/1403/06/14142Genomicunknown
ss985256280EVA-GONL|EVA-GONL_rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca04/23/1404/25/14142Genomicunknown
ss1067495861JMKIDD_LAB|HGDP_exomes_chr8_18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/09/1407/09/14142Genomicunknown
ss1075326283JMKIDD_LAB|HGDP_WGS_chr8_18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/10/1407/11/14142Genomicunknown
ss13288538941000GENOMES|PHASE3_V1_41164978fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca08/16/1408/16/14142Genomicunknown
ss1431436715DDI|DDI_rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/04/1411/05/14144Genomicunknown
ss1582586557EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/19/1502/20/15144Genomicunknown
ss1584057286EVA_FINRISK|EVA_FINRISK_rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/27/1502/27/15144Genomicunknown
ss1594845135EVA_DECODE|EVA_DECODE_8_18302075_223845_rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/02/1503/03/15144Genomicunknown
ss1620100535EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18257795_22761465fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/04/1503/04/15144Genomicunknown
ss1663094568EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18257795_22761465fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/04/1503/04/15144Genomicunknown
ss1689107828EVA_EXAC|EVA_EXAC_4197245fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/04/1503/04/15144Genomicunknown
ss1711194411EVA_MGP|EVA_XIMO_310171fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/09/1503/09/15144Genomicunknown
ss1713019599EVA_SVP|EVA_SVP_713966fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/12/1503/12/15144Genomicunknown
ss1752722182ILLUMINA|OmniExpressExome-8v1-1_B_rs1041983-131_B_F_1885767274fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/27/1506/09/15146Genomicunknown
ss1805425818HAMMER_LAB|Hsieh_4440011fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/15/1507/16/15146Genomicunknown
ss1928545813WEILL_CORNELL_DGM|SNV:chr8:18257795fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca10/16/1510/17/15147Genomicunknown
ss1970925398GENOMED|rs1041983fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/16/1602/16/16147Genomicunknown
ss2024971336JJLAB|SNP5473891fwd/BC/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca08/29/1608/30/16149Genomicunknown
ss2153192867USC_VALOUEV|NC_000008.10:g.18257795C>Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/17/1611/17/16150Genomicunknown
ss2301164536HUMAN_LONGEVITY|HLI-8-18400285-C-Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/18/1611/18/16150Genomicunknown
ss2470822135TOPMED|8_18257795_C/Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca11/20/1611/20/16150Genomicunknown
ss2626970488SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3490743fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca01/06/1701/06/17151Genomicunknown
ss2634717898ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1041983-131_B_F_2131fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/02/1702/02/17151Genomicunknown
ss2634717899ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_kgp9976868-0_B_F_190511312fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/02/1702/02/17151Genomicunknown
ss2634717900ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1041983-131_B_F_18857672fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/02/1702/02/17151Genomicunknown
ss2708953250GRF|rs1041983fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca02/13/1702/13/17151Genomicunknown
ss2711131667ILLUMINA|Consortium-OncoArray_15047405_A_rs1041983-131_B_F_1885767274fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca03/22/1703/22/17151Genomicunknown
ss2737016641GNOMAD|exomes_rs1041983fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/17/1705/17/17151Genomicunknown
ss2748005924GNOMAD|coding_rs1041983fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/17/1705/17/17151Genomicunknown
ss2863932582GNOMAD|rs1041983fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/19/1705/19/17151Genomicunknown
ss3002780524SWEGEN|NC_000008.10:g.18257795C>Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca05/30/1705/30/17151Genomicunknown
ss3022824449ILLUMINA|MEGA_Consortium_v2_15070954_A2_8:18257795-C-T-0_B_F_2304288925fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca06/28/1706/28/17151Genomicunknown
ss3023063894EVA_SAMSUNG_MC|EXOMES.8:g18257795c>tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/03/1707/03/17151Genomicunknown
ss3026276047BIOINF_KMB_FNS_UNIBA|8.18400285C>Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/05/1707/05/17151Genomicunknown
ss3029637975CSIRBIOHTS|NM_000015.2:g.18257795C>Tfwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca07/28/1707/28/17151Genomicunknown
ss3348074284CSHL|rs1041983fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca10/02/1710/02/17151Genomicunknown
ss3555514708TOPMED|TOPMed_freeze_5?chr8:18,400,285fwd/C/Tccacaatgttaggagggtatttttaatccctccagttaacaaatacagca10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1041983|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TACTTTCCTT ACAGGGTTCT GAGACTACTA AGAGAACTTA TGCATGTAAA AGGGATTCAT
 GCAGTAGAAA TACTAACAAA AGAATTACTA TGACAGATAC TTATAACCAT TGTGTTTTTA
 CGTATTTAAA ATACGTTATA CCTATAATTA GTCACACGAG GAAATCAAAT GCTAAAGTAT
 GATATGTTTT TATGTTTTGT TTTTCTTGCT TAGGGGATCA TGGACATTGA AGCATATTTT
 GAAAGAATTG GCTATAAGAA CTCTAGGAAC AAATTGGACT TGGAAACATT AACTGACATT
 CTTGAGCACC AGATCCGGGC TGTTCCCTTT GAGAACCTTA ACATGCATTG TGGGCAAGCC
 ATGGAGTTGG GCTTAGAGGC TATTTTTGAT CACATTGTAA GAAGAAACCG GGGTGGGTGG
 TGTCTCCAGG TCAATCAACT TCTGTACTGG GCTCTGACCA CAATCGGTTT TCAGACCACA
 ATGTTAGGAG GGTATTTTTA
 Y
 ATCCCTCCAG TTAACAAATA CAGCACTGGC ATGGTTCACC TTCTCCTGCA GGTGACCATT
 GACGGCAGGA ATTACATTGT CGATGCTGGG TCTGGAAGCT CCTCCCAGAT GTGGCAGCCT
 CTAGAATTAA TTTCTGGGAA GGATCAGCCT CAGGTGCCTT GCATTTTCTG CTTGACAGAA
 GAGAGAGGAA TCTGGTACCT GGACCAAATC AGGAGAGAGC AGTATATTAC AAACAAAGAA
 TTTCTTAATT CTCATCTCCT GCCAAAGAAG AAACACCAAA AAATATACTT ATTTACGCTT
 GAACCTCGAA CAATTGAAGA TTTTGAGTCT ATGAATACAT ACCTGCAGAC GTCTCCAACA
 TCTTCATTTA TAACCACATC ATTTTGTTCC TTGCAGACCC CAGAAGGGGT TTACTGTTTG
 GTGGGCTTCA TCCTCACCTA TAGAAAATTC AATTATAAAG ACAATACAGA TCTGGTCGAG
 TTTAAAACTC TCACTGAGGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X14672 BC015878 Hs.2
dbSNP Blast Analysis
UniGene Cluster ID
2
3D structure mapping
NP_000006  

  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.
SourceC/C
C/T
T/T
HWPC
T
ss115861052YRI 2IG 1.00000000 0.500000000.50000000
ss1328853894EAS 1008AF 0.560500030.43950000
EUR 1006AF 0.694800020.30519998
AFR 1322AF 0.531800030.46820000
AMR 694AF 0.708899970.29110000
SAS 978AF 0.571599960.42839998
ss162207614CEUEuropean 2IG 1.00000000 1.00000000
ss164094685YRISub-Saharan African 2IG 1.00000000 1.00000000
ss1689107828ExAc_Aggregated_Populations121408AF 0.655401650.34459838
ss198867399BUSHMAN_POP 2IG 1.00000000 0.500000000.50000000
ss223576388pilot_1_YRI_low_coverage_panel 118AF 0.500000000.50000000
ss234345861pilot_1_CEU_low_coverage_panel 120AF 0.691666660.30833334
ss241221832pilot_1_CHB+JPT_low_coverage_panel 120AF 0.608333350.39166668
ss342253601ESP_Cohort_Populations 4536GF0.403880060.466931220.129188720.654721000.637345670.36265433
ss491921836CSAgilent 1321GF0.458000000.433000030.109000000.751830000.674499990.32549998
ss52067226HapMap-CEUEuropean 226IG0.513274310.371681420.115044250.250592000.699115040.30088496
HapMap-HCBAsian 86IG0.395348850.441860470.162790700.751830000.616279070.38372093
HapMap-JPTAsian 170IG0.470588240.352941190.176470590.050043000.647058840.35294119
HapMap-YRISub-Saharan African 226IG0.230088500.495575220.274336281.000000000.477876100.52212387
Brazilian Population 620AF0.470000000.419999990.109999990.583882000.680000010.31999999
HAPMAP-ASW 98IG0.285714300.489795920.224489791.000000000.530612230.46938777
HAPMAP-CHBAsian 82IG0.390243890.487804890.121951220.751830000.634146330.36585367
HAPMAP-CHD 168IG0.428571430.416666660.154761910.371093000.636904780.36309522
HAPMAP-GIH 176IG0.318181810.534090940.147727270.371093000.585227250.41477272
HAPMAP-LWK 180IG0.333333340.455555560.211111110.479500000.561111090.43888888
HAPMAP-MEX 98IG0.469387770.448979590.081632650.751830000.693877580.30612245
HAPMAP-MKK 286IG0.328671340.517482520.153846160.438578000.587412600.41258740
HAPMAP-TSI 176IG0.488636370.420454530.090909091.000000000.698863630.30113637
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss5586797P1 202AF0.406000020.426000000.168000000.342782000.619000020.38100004
CAUC1 62AF0.386999990.484000000.129000011.000000000.629000010.37099999
AFR1 48AF0.500000000.292000000.208000000.099721000.646000030.35400000
HISP1 46AF0.477999990.435000030.087000001.000000000.695999980.30399999
PAC1 46AF0.261000010.477999990.261000011.000000000.500000000.50000000
ss66858967HSP_GENO_PANEL 52IG0.653846140.230769230.115384620.099721000.769230780.23076923
CEU_GENO_PANELEuropean 68IG0.558823530.352941190.088235300.654721000.735294100.26470590
AAM_GENO_PANELAfrican American 124IG0.241935480.500000000.258064511.000000000.491935490.50806451
CHB_GENO_PANELAsian 90IG0.377777790.466666670.155555561.000000000.611111100.38888890
YRI_GENO_PANELSub-Saharan African 120IG0.250000000.550000010.200000000.438578000.524999980.47499999
JPT_GENO_PANELAsian 24IG0.333333340.500000000.166666671.000000000.583333310.41666666
ss70456613PDR90-PANEL 178AF 0.640449460.35955057
ss86272062AGI_ASP_populationmultiple 64IG0.500000000.250000000.250000000.010028000.625000000.37500000
ss99307905P24 42AF 0.790000020.20999999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.452+/-0.1470000ALFRED: 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
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES

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