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: rs1799883                 ** With Benign allele **
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:89/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C/G/T (REV)
Allele Origin:A:germline
G:germline
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:With Benign allele [ClinVar]
MAF/MinorAlleleCount:T=0.2739/33209 (ExAC)
T=0.2534/1269 (1000 Genomes)
T=0.2513/3267 (GO-ESP)
T=0.2518/31623 (TOPMED)
HGVS Names
  • CM000666.2:g.119320747T>A
  • CM000666.2:g.119320747T>C
  • CM000666.2:g.119320747T>G
  • NC_000004.11:g.120241902T>C
  • NC_000004.12:g.119320747T>A
  • NC_000004.12:g.119320747T>C
  • NC_000004.12:g.119320747T>G
  • NG_011444.1:g.6415A>C
  • NG_011444.1:g.6415A>G
  • NG_011444.1:g.6415A>T
  • NM_000134.3:c.163A>C
  • NM_000134.3:c.163A>G
  • NM_000134.3:c.163A>T
  • NP_000125.2:p.Thr55Ala
  • NP_000125.2:p.Thr55Pro
  • NP_000125.2:p.Thr55Ser
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 ss277898596 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1799883 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
ss2419923HGBASE|SNP000000534fwd/BA/C/G/Ttaaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttt11/07/0010/10/0389Genomicunknown
ss6675543WI_SSAHASNP|NT_016354.13_8930170byFreqrev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/12/0310/25/06111Genomicunknown
ss10172087BCM_SSAHASNP|chr4.NT_016354.15_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc06/27/0310/10/03116Genomicunknown
ss11149449WI_SSAHASNP|chr4.NT_016354.15_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc07/03/0310/10/03116Genomicunknown
ss13578041BCM_SSAHASNP|chr4.NT_016354.16_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc11/05/0311/22/03119Genomicunknown
ss13628598WI_SSAHASNP|chr4.NT_016354.16_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc11/05/0311/22/03119Genomicunknown
ss17805120CSHL-HAPMAP|CSHL-HuCC-200402.chr4.NT_016354.16_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/19/0403/04/04120Genomicunknown
ss22076929SSAHASNP|WGSA-200403-chr4.chr4.NT_016354.16_44737031rev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc03/20/0403/20/04121Genomicunknown
ss22887143IMCJ-GDT|IMCJ-FABP2_5-agfwd/BA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac03/22/0403/22/04121Genomicunknown
ss24180431PERLEGEN|afd3522058byFreqrev/TC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc08/10/0409/13/04123Genomicunknown
ss35091003SSAHASNP|TA-079.chr4_120599505rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc03/11/05125Genomicunknown
ss44570594ABI|hCV761961byFreqrev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc07/19/0511/03/06126Genomicunknown
ss48429582APPLERA_GI|hCV761961byFreqrev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc09/28/0511/03/06126Genomicunknown
ss68909484PERLEGEN|PGP03522058byFreqrev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc01/30/0708/14/07127Genomicunknown
ss74820580AFFY|SNP_M-323295fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac08/09/0708/09/07128Genomicunknown
ss74866208ILLUMINA|ILMN_Human_1M_rs1799883fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac08/28/0708/29/07129Genomicunknown
ss77215890HGSV|Cor12156_SNV_20070510.chr4_120599505rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc10/09/0710/11/07129Genomicunknown
ss78653710HGSV|Cor18507_SNV_20070510.chr4_120599505rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc10/19/0710/20/07129Genomicunknown
ss92748784BCMHGSC_JDW|JWB-1842564rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/26/0803/03/08129Genomicunknown
ss98857001HUMANGENOME_JCVI|1103654528332rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc04/01/0804/02/08130Genomicunknown
ss104110846BGI|BGI_rs1799883rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc06/07/0806/18/09131Genomicunknown
ss1082762971000GENOMES|CEU.trio.12.15.2008_1069747_chr4_120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc12/15/0812/15/08130Genomicunknown
ss1104887661000GENOMES|NA19240_2008_12_16_967381_chr4_120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc12/17/0812/17/08130Genomicunknown
ss117162041ILLUMINA-UK|NA18507_000163178_NCBI36.1_chr4_120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc01/18/0901/18/09130Genomic99 %
ss119403873KRIBB_YJKIM|KHS1566120fwd/A/C/G/Tggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac02/04/0902/04/09131Genomicunknown
ss120037315ILLUMINA|GS0007123-OPA_Ober-rs1799883rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/24/0902/24/09131Genomicunknown
ss135164858ENSEMBL|ENSSNP2262347rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc12/08/0810/15/09131Genomicunknown
ss139847306ENSEMBL|ENSSNP12658017rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc05/18/0905/19/09131Genomicunknown
ss159708340SEATTLESEQ|FABP2-120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc07/10/0907/10/09131Genomicunknown
ss160462698ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1799883-128_T_F_1513892769fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac08/04/0910/02/09131Genomicunknown
ss164192772COMPLETE_GENOMICS|NA19240_36_chr4_120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc09/29/0909/29/09132Genomicunknown
ss167086097COMPLETE_GENOMICS|NA20431_36_chr4_120461350rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc09/30/0909/30/09132Genomicunknown
ss172924207ILLUMINA|Human1M-Duov3_B_rs1799883-128_T_F_1513892769fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac10/01/0910/02/09132Genomicunknown
ss199088742BUSHMAN|BUSHMAN-chr4-120461349byFreqrev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/16/1009/05/14132Genomicunknown
ss206272925BCM-HGSC-SUB|BCM_CMT_1011-798047rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc03/15/1003/17/10132Genomicunknown
ss2211734011000GENOMES|pilot_1_YRI_2983084_chr4_120461350rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc04/22/1004/22/10132Genomicunknown
ss2325683981000GENOMES|pilot_1_CEU_2173027_chr4_120461350rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc05/01/1005/01/10132Genomicunknown
ss2398213251000GENOMES|pilot_1_CHB+JPT_1706402_chr4_120461350rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc05/01/1005/01/10132Genomicunknown
ss244284952ILLUMINA|CVDSNP55v1_A_rs1799883fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac06/10/1006/10/10132Genomicunknown
ss275514547OMIM-CURATED-RECORDS|1856fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac11/22/1011/22/10133Genomicunknown
ss277898596GMI|GMI_AK_SNP_2218829rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc12/16/1012/16/10137Genomicunknown
ss284992631GMI|GMI_NA10851_SNP_1005404rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc12/17/1012/17/10138Genomicunknown
ss293173456PJP|SNP_2679814_chr4_120461350rev/C/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc01/21/1101/21/11134Genomicunknown
ss342170535NHLBI-ESP|ESP2500-chr4-120241902byFreqrev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc03/25/1109/05/14134Genomicunknown
ss410916036ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs1799883fwd/TA/Gggaaataaattcacagtcaaagaatcaagccttttcgaaacattgaagttgtttttgaac06/07/1106/07/11135Genomicunknown
ss480311168ILLUMINA|HumanOmniExpress-12v1_C_rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta01/30/1210/27/16137Genomicunknown
ss481066587ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta01/30/1208/28/15146Genomicunknown
ss4908938041000GENOMES|20110521_exome_401602_chr4_120241902rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc02/10/1202/21/12137Genomicunknown
ss491360117EXOME_CHIP|nonsyn_76344_chr_4_120241902rev/BC/Tgttcaaaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaatttatttcc03/05/1203/05/12137Genomicunknown
ss491859241CLINSEQ_SNP|SNV-chr4-120461350byFreqrev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/06/1209/05/14137Genomicunknown
ss535449684ILLUMINA|HumanOmni5-4v1_B_kgp3759512-0_B_F_1907006246rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta06/22/1208/28/15146Genomicunknown
ss557806969TISHKOFF|snp_chr4_120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/22/1211/23/12138Genomicunknown
ss651614750SSMP|4_120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta12/14/1202/10/15138Genomicunknown
ss780832082ILLUMINA|HumanOmni25Exome-8v1_A_exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/30/1307/09/15142Genomicunknown
ss783515057ILLUMINA|HumanOmniExpressExome-8v1_A_exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/31/1306/19/15142Genomicunknown
ss832175355ILLUMINA|HumanOmniExpress-12v1_H_rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta09/17/1306/18/15146Genomicunknown
ss974453825JMKIDD_LAB|KhoeSan_Exomes_chr4_120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/06/1403/06/14142Genomicunknown
ss980597678EVA-GONL|EVA-GONL_rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta04/23/1404/24/14142Genomicunknown
ss1067463925JMKIDD_LAB|HGDP_exomes_chr4_120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta07/09/1407/09/14142Genomicunknown
ss1071897167JMKIDD_LAB|HGDP_WGS_chr4_120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta07/10/1407/11/14142Genomicunknown
ss13115252751000GENOMES|PHASE3_V1_23107932rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta08/16/1408/16/14142Genomicunknown
ss1430026389DDI|DDI_rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/04/1411/05/14144Genomicunknown
ss1580744449EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta02/19/1502/20/15144Genomicunknown
ss1584036031EVA_FINRISK|EVA_FINRISK_rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta02/27/1502/27/15144Genomicunknown
ss1590105213EVA_DECODE|EVA_DECODE_4_120461350_949449_rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/02/1503/03/15144Genomicunknown
ss1611025300EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_4_120241902_12789940rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/04/1503/04/15144Genomicunknown
ss1654019333EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_4_120241902_12789940rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/04/1503/04/15144Genomicunknown
ss1687620643EVA_EXAC|EVA_EXAC_2592187rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/04/1503/04/15144Genomicunknown
ss1711070268EVA_MGP|EVA_XIMO_186028rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/09/1503/09/15144Genomicunknown
ss1712702227EVA_SVP|EVA_SVP_396594rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/12/1503/12/15144Genomicunknown
ss1752494874ILLUMINA|OmniExpressExome-8v1-1_B_exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/27/1506/09/15146Genomicunknown
ss1752494875ILLUMINA|OmniExpressExome-8v1-1_B_rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/27/1506/09/15146Genomicunknown
ss1802096509HAMMER_LAB|Hsieh_2450284rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta07/15/1507/15/15146Genomicunknown
ss1917784210ILLUMINA|HumanExome-12v1-1_B_exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/16/1510/16/15147Genomicunknown
ss1923839608WEILL_CORNELL_DGM|SNV:chr4:120241902rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/16/1510/17/15147Genomicunknown
ss1946125988ILLUMINA|HumanCoreExome-12v1-0_C_exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/29/1510/29/15147Genomicunknown
ss1946125989ILLUMINA|HumanCoreExome-12v1-0_C_rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/29/1510/29/15147Genomicunknown
ss1958716143ILLUMINA|exm421380-0_B_F_1923063637rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/13/1511/13/15147Genomicunknown
ss1958716144ILLUMINA|rs1799883-128_T_F_1513892769rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/13/1511/13/15147Genomicunknown
ss1969850271GENOMED|rs1799883rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta02/16/1602/16/16147Genomicunknown
ss2022503006JJLAB|SNP3005561rev/BC/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta08/29/1608/30/16149Genomicunknown
ss2150633848USC_VALOUEV|NC_000004.11:g.120241902T>Crev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/17/1611/17/16150Genomicunknown
ss2266556612HUMAN_LONGEVITY|HLI-4-119320747-T-Crev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/18/1611/18/16150Genomicunknown
ss2434416396TOPMED|4_120241902_T/Crev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta11/20/1611/20/16150Genomicunknown
ss2625748247SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV1909665rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta01/06/1701/06/17151Genomicunknown
ss2634169832ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1799883-128_T_F_15138927rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta02/02/1702/02/17151Genomicunknown
ss2706116266GRF|rs1799883rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta02/13/1702/13/17151Genomicunknown
ss2710662962ILLUMINA|Consortium-OncoArray_15047405_A_rs1799883-128_T_F_1513892769rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta03/22/1703/22/17151Genomicunknown
ss2734707977GNOMAD|exomes_rs1799883rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/17/1705/17/17151Genomicunknown
ss2747295621GNOMAD|coding_rs1799883rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/17/1705/17/17151Genomicunknown
ss2814430911GNOMAD|rs1799883rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/18/1705/18/17151Genomicunknown
ss2985302181AFFY|Axiom_PsorMich_Affx-23257800rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/24/1705/24/17151Genomicunknown
ss2995435320SWEGEN|NC_000004.11:g.120241902T>Crev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta05/30/1705/30/17151Genomicunknown
ss3022409854ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm421380-0_B_F_1923063637rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta06/28/1706/28/17151Genomicunknown
ss3025028202BIOINF_KMB_FNS_UNIBA|4.119320747T>Crev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta07/05/1707/05/17151Genomicunknown
ss3345925699CSHL|rs1799883rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/02/1710/02/17151Genomicunknown
ss3440869892TOPMED|TOPMed_freeze_5?chr4:119,320,747-01rev/A/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/04/1710/04/17151Genomicunknown
ss3440869893TOPMED|TOPMed_freeze_5?chr4:119,320,747-02rev/C/Taaaacaacttcaatgtttcgaaaaggcttgattctttgactgtgaattta10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1799883|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 GGGGCATTTA AGAAAAAAGA ATACTGTATA TGTGGAATTA AAGATGTGCT TCCTTATAAA
 TATATGAATA TACATTTTAA TCCTTCATTT GATATTTCTA GAATTTGATT TACTTAACAC
 TGAAATGAAC AGTTTGTTAA TCTTATTAAG GTTGCTCAGC TCTAAGATTC TATAATTCTG
 TACTCTACTT AATTTTTCTC AAGTTATGGA AAAACAACTT TAATCAGTTC TCTTGATCTG
 ATTGAACCTG AACTTCTGTA GAAGCAATCT GAATGTTCTT GTGCAAAGGC AATGCTACCG
 AGTTTTCTTC CCACCCTCAA AATAAACAAA CAAAACATAA CTTGGAAAAA TAAACACTTC
 CTATGGGATT TGACTTTATT TTCTCCATTG TCTTACCTTT TACAGGTGTT AATATAGTGA
 AAAGGAAGCT TGCAGCTCAT GACAATTTGA AGCTGACAAT TACACAAGAA GGAAATAAAT
 TCACAGTCAA AGAATCAAGC
 N
 CTTTTCGAAA CATTGAAGTT GTTTTTGAAC TTGGTGTCAC CTTTAATTAC AATCTAGCAG
 ACGGAACTGA ACTCAGGGTA AGAATTTTTT TTTTTATGAG CAATGCATTC TTGATTTTTC
 TACCCAATAT TAAAATGATT TCTGCTCTAT TTCATTGGAT GGTTTAATTA ATGCAGGTCT
 CCTTCACTAA CTGAAGAAGC CAATGAAGTT TGTCTACATT ATATATTGCA CAAATTGGCA
 GGATATTTAA ATATGTTTTT ATTTTTATAC GCATCTGTGA AGAATCTGAA TTGAACAGTA
 AGAATTAGAA AACTATCTTT TGAATGACTG AATATAGACC TATTCATAAA GAAATTTAAA
 ACTGTGTTTT TAAACAGTAC AGCAAAAGAA GCCTTTAGAG TTAATATGTA ACTTAACTGT
 AATAGCAATT TAACATGTTG AAATAATAAA AGAAATGAAT AGATGAACAA ATGAGTGAGT
 TACCAAATGG AAAGATTTGA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_016354 ABBA01044706
dbSNP Blast Analysis
UniGene Cluster ID
282265
3D structure mapping
NP_000125  
OMIM
134640.0001

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1799883 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA
A/A
A/G
G
G/G
HWPA
G
ss117162041YRI 2IG 1.00000000 1.00000000
ss1311525275EAS 1008AF 0.246000010.75400001
EUR 1006AF 0.268400010.73160005
AFR 1322AF 0.217099990.78289998
AMR 694AF 0.230500000.76950002
SAS 978AF 0.310800020.68919998
ss135164858ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 2IG 1.00000000 1.00000000
ss139847306ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss164192772YRISub-Saharan African 2IG 1.00000000 1.00000000
ss167086097PGP 2IG 1.00000000 0.500000000.50000000
ss1687620643ExAc_Aggregated_Populations121394AF 0.274140390.72585958
ss199088742BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss221173401pilot_1_YRI_low_coverage_panel 118AF 0.237288130.76271188
ss232568398pilot_1_CEU_low_coverage_panel 120AF 0.341666670.65833336
ss239821325pilot_1_CHB+JPT_low_coverage_panel 120AF 0.349999990.64999998
ss24180431AFD_EUR_PANELEuropean 48IG 0.37500000 0.625000000.527089000.187500000.81250000
AFD_AFR_PANELAfrican American 46IG 0.086956520.26086956 0.652173940.273322000.217391300.78260869
AFD_CHN_PANELAsian 48IG 0.041666670.41666666 0.541666690.654721000.250000000.75000000
ss342170535ESP_Cohort_Populations 4512GF 0.058510640.39406028 0.547429080.099721000.255540790.74445921
ss44570594HapMap-CEUEuropean 226IG 0.070796460.51327431 0.415929200.099721000.327433620.67256635
HapMap-HCBAsian 82IG 0.048780490.56097561 0.390243890.099721000.329268310.67073172
HapMap-JPTAsian 168IG 0.083333340.47619048 0.440476180.402784000.321428570.67857140
HAPMAP-ASW 96IG 0.020833330.39583334 0.583333310.294266000.218750000.78125000
HAPMAP-CHBAsian 82IG 0.121951220.39024389 0.487804890.527089000.317073170.68292683
HAPMAP-CHD 170IG 0.047058820.31764707 0.635294141.000000000.205882360.79411763
HAPMAP-GIH 176IG 0.136363640.45454547 0.409090911.000000000.363636370.63636363
HAPMAP-LWK 180IG 0.066666670.25555557 0.677777770.099721000.194444450.80555558
HAPMAP-MEX 98IG 0.102040820.38775510 0.510204080.654721000.295918380.70408165
HAPMAP-MKK 284IG 0.035211270.28873238 0.676056331.000000000.179577470.82042253
HAPMAP-TSI 174IG 0.057471260.39080459 0.551724140.751830000.252873570.74712646
ss48429582AGI_ASP populationmultiple 68IG 0.058823530.23529412 0.705882370.273322000.176470590.82352942
ss491859241CSAgilent 1311GF 0.070000000.39200002 0.537999991.000000000.266000000.73399997
ss6675543CHMJAsian 74IG0.35135135 0.64864862 0.351351350.64864862
ss98857001J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.398+/-0.2020000ALFRED: 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
byClusterbyFreqbySubmitterwithHapMapFreqWith1000GenomeData
Validated by: PERLEGEN
UNKNOWNUNKNOWNUNKNOWN

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