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!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs1799929                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterWith1000GenomeData
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:NA
MAF/MinorAlleleCount:T=0.3640/44062 (ExAC)
T=0.2680/1342 (1000 Genomes)
T=0.3710/4825 (GO-ESP)
T=0.3414/42867 (TOPMED)
HGVS Names
  • CM000670.2:g.18400484C>T
  • NC_000008.10:g.18257994C>T
  • NC_000008.11:g.18400484C>T
  • NG_012246.1:g.14240C>T
  • NM_000015.2:c.481C>T
  • NP_000006.2:p.Leu161=
  • XP_016868427.1:p.Leu161=
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 ss279717736 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1799929 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
ss2419980HGBASE|SNP000002397fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/07/0010/10/0389Genomicunknown
ss5586799SNP500CANCER|NAT2-07byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta09/26/0204/07/04116Genomicunknown
ss6311248RIKENSNPRC|ssj0007791fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta01/15/0310/10/03113Genomicunknown
ss24664950PERLEGEN|afd1876298byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta08/10/0409/13/04123Genomicunknown
ss44919783ABI|hCV1204092byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta07/19/0511/03/06126Genomicunknown
ss65740993ILLUMINA|Human1-rs1799929fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta10/10/0610/10/06127Genomicunknown
ss66185038AFFY|SNP_A-2235920byFreqrev/TA/Gctcctgatttggtccagtaccagattcctctc10/27/0608/14/07127Genomicunknown
ss66858969EGP_SNPS|NAT2_010551byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta11/09/0612/16/06127Genomicunknown
ss70456616EGP_SNPS|NAT2-010551byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta04/19/0708/14/07127Genomicunknown
ss74879481ILLUMINA|ILMN_Human_1M_rs1799929fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta08/28/0708/29/07129Genomicunknown
ss76254461AFFY|AFFY_6_1M_SNP_A-2235920byFreqrev/TA/Gctcctgatttggtccagtaccagattcctctc08/28/0703/07/10129Genomicunknown
ss76869172CGM_KYOTO|11626fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta09/12/0709/12/07129cDNAunknown
ss78682669HGSV|Cor12878_SNV_20070510.chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta10/17/0710/20/07129Genomicunknown
ss80929608HGSV|Cor18507_SNV_20070510.chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta11/26/0711/27/07130Genomicunknown
ss81586782KRIBB_YJKIM|KHS109747fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta11/30/0711/30/07130Genomicunknown
ss86238191CORNELL|hCV1204092byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta01/21/0809/05/14129Genomicunknown
ss98055195HUMANGENOME_JCVI|1103652262094fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta03/30/0803/31/08130Genomicunknown
ss99307907SHGC|3131byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta04/17/0809/05/14130Genomicunknown
ss1128808831000GENOMES|CEU.trio.12.15.2008_1943857_chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta12/18/0812/18/08130Genomicunknown
ss115861054ILLUMINA-UK|NA18507_000042491_NCBI36.1_chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta01/16/0901/16/09130Genomic99 %
ss143118530ENSEMBL|ENSSNP9527546fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta12/08/0810/17/09131Genomicunknown
ss153736152ILLUMINA|Human610_Quadv1_B_rs1799929-128_B_F_1513892772fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta06/18/0906/19/09131Genomicunknown
ss159329699ILLUMINA|Human660W-Quad_v1_A_rs1799929-128_B_F_1513892772fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta07/06/0907/07/09131Genomicunknown
ss159716514SEATTLESEQ|NAT2-18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta07/10/0907/10/09131Genomicunknown
ss160462712ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1799929-128_B_F_1513892772fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta08/04/0910/02/09131Genomicunknown
ss166321082COMPLETE_GENOMICS|NA20431_36_chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta09/30/0909/30/09132Genomicunknown
ss172924244ILLUMINA|Human1M-Duov3_B_rs1799929-128_B_F_1513892772fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta10/01/0910/02/09132Genomicunknown
ss172990869AFFY|GenomeWideSNP_5_SNP_A-2235920rev/TA/Gctcctgatttggtccagtaccagattcctctc10/01/0910/02/09132Genomicunknown
ss198867406BUSHMAN|BUSHMAN-chr8-18302273fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta02/16/1003/06/10132Genomicunknown
ss208606738BCM-HGSC-SUB|BCM_CMT_1011-1671367fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta03/15/1003/19/10132Genomicunknown
ss2235763901000GENOMES|pilot_1_YRI_5386073_chr8_18302274fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta04/22/1004/22/10132Genomicunknown
ss2343458631000GENOMES|pilot_1_CEU_3950492_chr8_18302274fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta05/01/1005/01/10132Genomicunknown
ss2412218331000GENOMES|pilot_1_CHB+JPT_3106910_chr8_18302274fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta05/01/1005/01/10132Genomicunknown
ss279717736GMI|GMI_AK_SNP_4037989fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta12/16/1012/16/10137Genomicunknown
ss285804792GMI|GMI_NA10851_SNP_1817565fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta12/17/1012/17/10138Genomicunknown
ss294231046PJP|SNP_3737404_chr8_18302274fwd/C/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta01/21/1101/21/11134Genomicunknown
ss342253608NHLBI-ESP|ESP2500-chr8-18257994byFreqfwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta03/25/1109/05/14134Genomicunknown
ss410878053ILLUMINA|Cardio-Metabo_Chip_11395247_A_chr8_18302274fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta06/07/1106/07/11135Genomicunknown
ss480300110ILLUMINA|HumanOmni2.5-4v1_B_rs1799929-128_B_F_1735650437fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta01/30/1210/29/16137Genomicunknown
ss480311201ILLUMINA|HumanOmniExpress-12v1_C_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta01/30/1210/27/16137Genomicunknown
ss481066643ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta01/30/1208/28/15146Genomicunknown
ss484947866ILLUMINA|HumanOmni2.5-4v1_D_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta01/30/1210/28/16137Genomicunknown
ss4909607221000GENOMES|20110521_exome_468520_chr8_18257994fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta02/10/1202/21/12137Genomicunknown
ss491410760EXOME_CHIP|ESP.rq_126986_chr_8_18257994fwd/BC/Ttgcttgacagaagagagaggaatctggtactggaccaaatcaggagagagcagtatatta03/05/1203/05/12137Genomicunknown
ss491921839CLINSEQ_SNP|SNV-chr8-18302274byFreqfwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/06/1209/05/14137Genomicunknown
ss536992201ILLUMINA|HumanOmni5-4v1_B_rs1799929-131_B_F_1885767276fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta06/22/1208/29/15146Genomicunknown
ss560588642TISHKOFF|snp_chr8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/22/1211/23/12138Genomicunknown
ss655024498SSMP|8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta12/14/1202/12/15138Genomicunknown
ss778841464ILLUMINA|HumanOmni25Exome-8v1_A_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/30/1307/10/15146Genomicunknown
ss780682569ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/30/1307/10/15146Genomicunknown
ss782920241ILLUMINA|HumanOmni2.5-4v1_H_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/30/1307/29/15146Genomicunknown
ss783355923ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/31/1306/19/15146Genomicunknown
ss783883282ILLUMINA|HumanOmniExpressExome-8v1_A_rs1799929-131_B_F_1885767276fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/31/1306/19/15146Genomicunknown
ss832175363ILLUMINA|HumanOmniExpress-12v1_H_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta09/17/1306/19/15146Genomicunknown
ss834302021ILLUMINA|HumanOmni2.5-8v1_A_rs1799929-131_B_F_1854055961fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta09/18/1307/29/15146Genomicunknown
ss974467365JMKIDD_LAB|KhoeSan_Exomes_chr8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/06/1403/06/14142Genomicunknown
ss985256283EVA-GONL|EVA-GONL_rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta04/23/1404/25/14142Genomicunknown
ss1067495863JMKIDD_LAB|HGDP_exomes_chr8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta07/09/1407/09/14142Genomicunknown
ss1075326285JMKIDD_LAB|HGDP_WGS_chr8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta07/10/1407/11/14142Genomicunknown
ss13288539041000GENOMES|PHASE3_V1_41164988fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta08/16/1408/16/14142Genomicunknown
ss1431436717DDI|DDI_rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/04/1411/05/14144Genomicunknown
ss1582586559EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/19/1502/20/15144Genomicunknown
ss1584057288EVA_FINRISK|EVA_FINRISK_rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/27/1502/27/15144Genomicunknown
ss1594845138EVA_DECODE|EVA_DECODE_8_18302274_223848_rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/02/1503/03/15144Genomicunknown
ss1620100540EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_8_18257994_22761470fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/04/1503/04/15144Genomicunknown
ss1663094573EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_8_18257994_22761470fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/04/1503/04/15144Genomicunknown
ss1689107869EVA_EXAC|EVA_EXAC_4197289fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/04/1503/04/15144Genomicunknown
ss1711194414EVA_MGP|EVA_XIMO_310174fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/09/1503/09/15144Genomicunknown
ss1713019600EVA_SVP|EVA_SVP_713967fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/12/1503/12/15144Genomicunknown
ss1752722186ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/27/1506/09/15146Genomicunknown
ss1752722187ILLUMINA|OmniExpressExome-8v1-1_B_rs1799929-131_B_F_2087475832fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/27/1506/09/15146Genomicunknown
ss1917826206ILLUMINA|HumanExome-12v1-1_B_exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta10/16/1510/16/15147Genomicunknown
ss1928545815WEILL_CORNELL_DGM|SNV:chr8:18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta10/16/1510/17/15147Genomicunknown
ss1946231110ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta10/29/1510/29/15147Genomicunknown
ss1959092404ILLUMINA|exm-rs1799929-131_B_F_1990480323fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/13/1511/13/15147Genomicunknown
ss1966657100AMU|chr8_18257994fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta01/29/1601/29/16147Genomicunknown
ss1970925400GENOMED|rs1799929fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/16/1602/16/16147Genomicunknown
ss2024971339JJLAB|SNP5473894fwd/BC/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta08/29/1608/30/16149Genomicunknown
ss2153192869USC_VALOUEV|NC_000008.10:g.18257994C>Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/17/1611/17/16150Genomicunknown
ss2301164555HUMAN_LONGEVITY|HLI-8-18400484-C-Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/18/1611/18/16150Genomicunknown
ss2470822147TOPMED|8_18257994_C/Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta11/20/1611/20/16150Genomicunknown
ss2634717903ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1799929-131_B_F_2131fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/02/1702/02/17151Genomicunknown
ss2634717904ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1799929-131_B_F_20874758fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/02/1702/02/17151Genomicunknown
ss2708953252GRF|rs1799929fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta02/13/1702/13/17151Genomicunknown
ss2711131673ILLUMINA|Consortium-OncoArray_15047405_A_rs1799929-131_B_F_2087475832fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta03/22/1703/22/17151Genomicunknown
ss2737016702GNOMAD|exomes_rs1799929fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/17/1705/17/17151Genomicunknown
ss2748005938GNOMAD|coding_rs1799929fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/17/1705/17/17151Genomicunknown
ss2863932596GNOMAD|rs1799929fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/19/1705/19/17151Genomicunknown
ss2985432614AFFY|Axiom_PsorMich_Affx-31859124fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/24/1705/24/17151Genomicunknown
ss2986074657AFFY|Axiom_Smokesc1_Affx-31859124fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/24/1705/24/17151Genomicunknown
ss3002780526SWEGEN|NC_000008.10:g.18257994C>Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta05/30/1705/30/17151Genomicunknown
ss3022824454ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1799929-131_B_F_1990480323fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta06/28/1706/28/17151Genomicunknown
ss3026276049BIOINF_KMB_FNS_UNIBA|8.18400484C>Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta07/05/1707/05/17151Genomicunknown
ss3029637978CSIRBIOHTS|NM_000015.2:g.18257994C>Tfwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta07/28/1707/28/17151Genomicunknown
ss3348074286CSHL|rs1799929fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta10/02/1710/02/17151Genomicunknown
ss3555514744TOPMED|TOPMed_freeze_5?chr8:18,400,484fwd/C/Tgacagaagagagaggaatctggtactggaccaaatcaggagagagcagta10/06/1710/06/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1799929|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 TTTTTCTTGC TTAGGGGATC ATGGACATTG AAGCATATTT TGAAAGAATT GGCTATAAGA
 ACTCTAGGAA CAAATTGGAC TTGGAAACAT TAACTGACAT TCTTGAGCAC CAGATCCGGG
 CTGTTCCCTT TGAGAACCTT AACATGCATT GTGGGCAAGC CATGGAGTTG GGCTTAGAGG
 CTATTTTTGA TCACATTGTA AGAAGAAACC GGGGTGGGTG GTGTCTCCAG GTCAATCAAC
 TTCTGTACTG GGCTCTGACC ACAATCGGTT TTCAGACCAC AATGTTAGGA GGGTATTTTT
 ACATCCCTCC AGTTAACAAA TACAGCACTG GCATGGTTCA CCTTCTCCTG CAGGTGACCA
 TTGACGGCAG GAATTACATT GTCGATGCTG GGTCTGGAAG CTCCTCCCAG ATGTGGCAGC
 CTCTAGAATT AATTTCTGGG AAGGATCAGC CTCAGGTGCC TTGCATTTTC TGCTTGACAG
 AAGAGAGAGG AATCTGGTAC
 Y
 TGGACCAAAT CAGGAGAGAG CAGTATATTA CAAACAAAGA ATTTCTTAAT TCTCATCTCC
 TGCCAAAGAA GAAACACCAA AAAATATACT TATTTACGCT TGAACCTCGA ACAATTGAAG
 ATTTTGAGTC TATGAATACA TACCTGCAGA CGTCTCCAAC ATCTTCATTT ATAACCACAT
 CATTTTGTTC CTTGCAGACC CCAGAAGGGG TTTACTGTTT GGTGGGCTTC ATCCTCACCT
 ATAGAAAATT CAATTATAAA GACAATACAG ATCTGGTCGA GTTTAAAACT CTCACTGAGG
 AAGAGGTTGA AGAAGTGCTG AGAAATATAT TTAAGATTTC CTTGGGGAGA AATCTCGTGC
 CCAAACCTGG TGATGGATCC CTTACTATTT AGAATAAGGA ACAAAATAAA CCCTTGTGTA
 TGTATCACCC AACTCACTAA TTATCAACTT ATGTGCTATC AGATATCCTC TCTACCCTCA
 CGTTATTTTG AAGAAAATCC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X14672 ABBA01021573
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
ss115861054YRI 2IG 1.00000000 0.500000000.50000000
ss1328853904EAS 1008AF 0.963299990.03670000
EUR 1006AF 0.564599990.43539998
AFR 1322AF 0.762500050.23750001
AMR 694AF 0.655600010.34439999
SAS 978AF 0.678899940.32110000
ss143118530ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss166321082PGP 2IG 1.00000000 0.500000000.50000000
ss1689107869ExAc_Aggregated_Populations121408AF 0.636580770.36341920
ss198867406BANTU 2IG 1.00000000 0.500000000.50000000
ss223576390pilot_1_YRI_low_coverage_panel 118AF 0.805084760.19491525
ss234345863pilot_1_CEU_low_coverage_panel 120AF 0.566666660.43333334
ss241221833pilot_1_CHB+JPT_low_coverage_panel 120AF 0.966666640.03333334
ss24664950AFD_EUR_PANELEuropean 48IG0.416666660.416666660.166666670.654721000.625000000.37500000
AFD_AFR_PANELAfrican American 44IG0.454545470.454545470.090909091.000000000.681818190.31818181
AFD_CHN_PANELAsian 48IG0.875000000.12500000 1.000000000.937500000.06250000
ss342253608ESP_Cohort_Populations 4356GF0.406795230.456841140.136363640.527089000.635215820.36478421
ss44919783HapMap-CEUEuropean 224IG0.366071430.464285700.169642850.751830000.598214270.40178570
HapMap-HCBAsian 84IG0.976190450.02380952 1.000000000.988095220.01190476
HapMap-JPTAsian 172IG0.953488350.04651163 1.000000000.976744170.02325581
HapMap-YRISub-Saharan African 222IG0.729729710.234234230.036036040.317310000.846846820.15315315
AoD_African_American 90AF 0.740000010.25999999
AoD_Caucasian 92AF 0.560000000.44000000
AoD_Chinese 90AF 0.979999960.02000000
Brazilian Population 620AF0.519999980.410000000.070000000.583882000.730000020.27000001
HAPMAP-ASW 98IG0.591836750.306122450.102040820.200325000.744897960.25510204
HAPMAP-CHBAsian 82IG0.926829280.07317073 1.000000000.963414610.03658536
HAPMAP-CHD 170IG0.894117650.082352940.023529410.004998000.935294090.06470589
HAPMAP-GIH 174IG0.459770110.448275860.091954020.751830000.683908050.31609195
HAPMAP-LWK 178IG0.438202260.471910120.089887640.527089000.674157320.32584271
HAPMAP-MEX 98IG0.428571430.428571430.142857150.654721000.642857130.35714287
HAPMAP-MKK 284IG0.281690150.535211270.183098580.342782000.549295780.45070422
HAPMAP-TSI 174IG0.310344820.471264360.218390810.654721000.545977000.45402297
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss491921839CSAgilent 1295GF0.285000000.524999980.190000000.150222000.547500010.45249999
ss5586799P1 200AF0.500000000.370000000.130000000.200325000.685000000.31500000
CAUC1 60AF0.300000010.532999990.167000010.654721000.566999970.43300003
AFR1 48AF0.542000000.375000000.083000001.000000000.728999970.27100000
HISP1 46AF0.347999990.435000000.217000010.583882000.565000000.43500000
PAC1 46AF0.870000000.087000000.043000000.050043000.913000050.08700000
ss66185038HapMap-CEUEuropean 118IG0.322033910.525423710.152542370.583882000.584745760.41525424
HapMap-HCBAsian 90IG0.955555560.04444445 1.000000000.977777780.02222222
HapMap-JPTAsian 90IG0.933333340.06666667 1.000000000.966666640.03333334
HapMap-YRISub-Saharan African 120IG0.699999990.216666670.083333340.020022000.808333340.19166666
ss66858969HSP_GENO_PANEL 54IG0.333333340.444444450.222222220.654721000.555555580.44444445
CEU_GENO_PANELEuropean 68IG0.205882360.617647050.176470590.200325000.514705900.48529410
AAM_GENO_PANELAfrican American 124IG0.645161270.258064510.096774190.050043000.774193530.22580644
CHB_GENO_PANELAsian 90IG0.955555560.04444445 1.000000000.977777780.02222222
YRI_GENO_PANELSub-Saharan African 120IG0.699999990.216666670.083333340.020022000.808333340.19166666
JPT_GENO_PANELAsian 24IG1.00000000 1.00000000
ss70456616PDR90-PANEL 172AF 0.715116260.28488371
ss76254461ICMHP 8IG0.75000000 0.25000000 0.750000000.25000000
ss86238191AGI_ASP_populationmultiple 76IG0.421052630.394736860.184210520.317310000.618421080.38157895
ss98055195J. Craig Venter 2IG 1.00000000 0.500000000.50000000
ss99307907P24 48AF 0.519999980.47999999

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.463+/-0.1310000ALFRED: 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
byClusterbyFreqbySubmitterWith1000GenomeData
Validated by: PERLEGEN
UNKNOWNUNKNOWNYES

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