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Reference SNP (refSNP) Cluster Report: rs1048943                 
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:A/C/G/T (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.0940/11410 (ExAC)
C=0.1334/668 (1000 Genomes)
C=0.0272/353 (GO-ESP)
C=0.0651/8180 (TOPMED)
HGVS Names
  • CM000677.2:g.74720644T>C
  • NC_000015.10:g.74720644T>C
  • NC_000015.9:g.75012985T>A
  • NC_000015.9:g.75012985T>C
  • NC_000015.9:g.75012985T>G
  • NG_008431.2:g.3103T>A
  • NG_008431.2:g.3103T>C
  • NG_008431.2:g.3103T>G
  • NM_000499.4:c.1384A>C
  • NM_000499.4:c.1384A>G
  • NM_000499.4:c.1384A>T
  • NM_001319216.1:c.1297A>C
  • NM_001319216.1:c.1297A>G
  • NM_001319216.1:c.1297A>T
  • NM_001319217.1:c.1384A>C
  • NM_001319217.1:c.1384A>G
  • NM_001319217.1:c.1384A>T
  • NP_000490.1:p.Ile462Leu
  • NP_000490.1:p.Ile462Phe
  • NP_000490.1:p.Ile462Val
  • NP_001306145.1:p.Ile433Leu
  • NP_001306145.1:p.Ile433Phe
  • NP_001306145.1:p.Ile433Val
  • NP_001306146.1:p.Ile462Leu
  • NP_001306146.1:p.Ile462Phe
  • NP_001306146.1:p.Ile462Val
Links
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 ss282318848 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1048943 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
ss1522321LEE|339730fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg09/13/0010/25/0686cDNAunknown
ss2419836HGBASE|SNP000000103fwd/TA/Gcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctctt11/07/0010/10/0389Genomicunknown
ss3176140WICVAR|WIAF-17944fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg06/28/0110/10/0398cDNAunknown
ss4044521SC_JCM|X02612.1_6819fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg09/26/0110/10/03100Genomicunknown
ss4413681LEE|e339731fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg04/26/0210/10/03106cDNAunknown
ss5586386SNP500CANCER|CYP1A1-01byFreqfwd/TA/Gatgggcaagcggaagtgtatcggtgagamcttgcccgctgggaggtctttctcttcctgg09/26/0204/07/04116Genomicunknown
ss6312281RIKENSNPRC|ssj0007951fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg01/15/0310/10/03111Genomicunknown
ss28515443NEBERTDW|g.45803303T>Crev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat09/14/0409/14/04126Genomicunknown
ss32475123BIOVENTURES|BV01009fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg12/10/04125Genomicunknown
ss40617564ABI|hCV25624888rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat07/17/0507/17/05126Genomicunknown
ss48429964APPLERA_GI|hCV25624888byFreqrev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat10/02/0511/03/06126Genomicunknown
ss52067446SI_EXO|NT_010194.16_45803303byFreqrev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat03/29/0608/14/07127Genomicunknown
ss69181359PERLEGEN|PGP04155752byFreqrev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat01/30/0708/14/07127Genomicunknown
ss69357106EGP_SNPS|CYP1A1-006712byFreqfwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg02/16/0703/31/08127Genomicunknown
ss74812666AFFY|SNP_M-288055fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg08/09/0708/09/07128Genomicunknown
ss74906004ILLUMINA|ILMN_Human_1M_rs1048943fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg08/28/0708/29/07129Genomicunknown
ss76861345CGM_KYOTO|1397rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat09/12/0709/12/07129cDNAunknown
ss152744652ILLUMINA|Human610_Quadv1_B_rs1048943-128_T_F_1513917644fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg06/18/0906/19/09131Genomicunknown
ss156737719GMI|GMI_SNP_71192190rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat06/24/0906/25/09131Genomicunknown
ss159127266ILLUMINA|Human660W-Quad_v1_A_rs1048943-128_T_F_1513917644fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg07/06/0907/06/09131Genomicunknown
ss159731055SEATTLESEQ|CYP1A1-72800038rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat07/10/0907/10/09131Genomicunknown
ss159899834ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1048943-128_T_F_1513917644fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg08/04/0910/01/09131Genomicunknown
ss161151842TOKAI-KISO|002byFreqrev/TA/Gccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat09/18/0909/05/14131Genomicunknown
ss161733495ENSEMBL|ENSSNP1136956byFreqrev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat09/24/0903/07/10131Genomicunknown
ss170170889ILLUMINA|Human1M-Duov3_B_rs1048943-128_T_F_1513917644fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg10/01/0910/01/09132Genomicunknown
ss2368378571000GENOMES|pilot_1_CEU_6442486_chr15_72800038rev/C/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat05/01/1005/01/10132Genomicunknown
ss2432141471000GENOMES|pilot_1_CHB+JPT_5099224_chr15_72800038rev/C/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat05/01/1005/01/10132Genomicunknown
ss244269178ILLUMINA|CVDSNP55v1_A_rs1048943fwd/TA/Gatgggcaagcggaagtgtatcggtgagaccttgcccgctgggaggtctttctcttcctgg06/10/1006/10/10132Genomicunknown
ss282318848GMI|GMI_AK_SNP_6639247rev/C/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat12/16/1012/16/10137Genomicunknown
ss342408507NHLBI-ESP|ESP2500-chr15-75012985byFreqrev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat03/25/1109/05/14134Genomicunknown
ss479284451ILLUMINA|HumanOmni2.5-4v1_B_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg01/30/1210/28/16137Genomicunknown
ss479287494ILLUMINA|HumanOmniExpress-12v1_C_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg01/30/1210/27/16137Genomicunknown
ss479665324ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg01/30/1208/28/15146Genomicunknown
ss484442749ILLUMINA|HumanOmni2.5-4v1_D_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg01/30/1210/27/16137Genomicunknown
ss4910878121000GENOMES|20110521_exome_595610_chr15_75012985rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat02/10/1202/22/12137Genomicunknown
ss491497246EXOME_CHIP|nonsyn_213472_chr_15_75012985rev/BC/Tccaggaagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttgcccat03/05/1203/05/12137Genomicunknown
ss491704160CLINSEQ_SNP|SNV-chr15-72800038byFreqrev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/06/1209/05/14137Genomicunknown
ss536611291ILLUMINA|HumanOmni5-4v1_B_rs1048943-128_T_F_1908655209rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg06/22/1208/29/15146Genomicunknown
ss660315642SSMP|15_75012985rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg12/14/1202/13/15138Genomicunknown
ss778357783ILLUMINA|HumanOmni25Exome-8v1_A_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/30/1307/10/15146Genomicunknown
ss780710882ILLUMINA|HumanOmni25Exome-8v1_A_exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/30/1307/10/15142Genomicunknown
ss782667864ILLUMINA|HumanOmni2.5-4v1_H_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/30/1307/29/15146Genomicunknown
ss783385699ILLUMINA|HumanOmniExpressExome-8v1_A_exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/31/1306/18/15142Genomicunknown
ss783636623ILLUMINA|HumanOmniExpressExome-8v1_A_rs1048943-128_T_F_1908655209rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/31/1306/18/15146Genomicunknown
ss831918489ILLUMINA|HumanOmniExpress-12v1_H_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg09/17/1306/18/15146Genomicunknown
ss833812540ILLUMINA|HumanOmni2.5-8v1_A_rs1048943-128_T_F_1616867222rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg09/18/1307/29/15146Genomicunknown
ss991955257EVA-GONL|EVA-GONL_rs1048943rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg04/23/1404/30/14142Genomicunknown
ss1067554272JMKIDD_LAB|HGDP_exomes_chr15_75012985rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg07/09/1407/09/14142Genomicunknown
ss1080250431JMKIDD_LAB|HGDP_WGS_chr15_75012985rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg07/10/1407/12/14142Genomicunknown
ss13541266341000GENOMES|PHASE3_V1_67486063rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg08/16/1408/16/14142Genomicunknown
ss1584095254EVA_FINRISK|EVA_FINRISK_rs1048943rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg02/27/1502/27/15144Genomicunknown
ss1633356436EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_15_75012985_37331013rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/04/1503/04/15144Genomicunknown
ss1676350469EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_15_75012985_37331013rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/04/1503/04/15144Genomicunknown
ss1691925240EVA_EXAC|EVA_EXAC_7235691rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/04/1503/04/15144Genomicunknown
ss1695981597EVA_DECODE|EVA_DECODE_15_72800038_396179_rs1048943rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/02/1503/04/15144Genomicunknown
ss1711403877EVA_MGP|EVA_XIMO_519637rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/09/1503/09/15144Genomicunknown
ss1713502747EVA_SVP|EVA_SVP_1197114rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/12/1503/12/15144Genomicunknown
ss1752171228ILLUMINA|OmniExpressExome-8v1-1_B_exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/27/1506/09/15146Genomicunknown
ss1752171229ILLUMINA|OmniExpressExome-8v1-1_B_rs1048943-128_T_F_1908655209rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/27/1506/09/15146Genomicunknown
ss1917898833ILLUMINA|HumanExome-12v1-1_B_exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg10/16/1510/16/15147Genomicunknown
ss1935358392WEILL_CORNELL_DGM|SNV:chr15:75012985rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg10/16/1510/18/15147Genomicunknown
ss1946398543ILLUMINA|HumanCoreExome-12v1-0_C_exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg10/29/1510/29/15147Genomicunknown
ss1946398544ILLUMINA|HumanCoreExome-12v1-0_C_rs1048943-128_T_F_1908655209rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg10/29/1510/29/15147Genomicunknown
ss1959626326ILLUMINA|exm1176861-0_B_F_1922889925rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg11/13/1511/13/15147Genomicunknown
ss1959626327ILLUMINA|rs1048943-128_T_F_1908655209rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg11/13/1511/13/15147Genomicunknown
ss1968147739GENOMED|rs1048943rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg02/16/1602/16/16147Genomicunknown
ss2028461446JJLAB|SNP8964001rev/BC/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg08/29/1608/31/16149Genomicunknown
ss2156868688USC_VALOUEV|NC_000015.9:g.75012985T>Crev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg11/17/1611/17/16150Genomicunknown
ss2208163233HUMAN_LONGEVITY|HLI-15-74720644-T-Crev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg11/18/1611/18/16150Genomicunknown
ss2372615597TOPMED|15_75012985_T/Crev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg11/19/1611/19/16150Genomicunknown
ss2628725517SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5725919rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg01/06/1701/06/17151Genomicunknown
ss2633251259ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1048943-128_T_F_2131rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg02/02/1702/02/17151Genomicunknown
ss2633251260ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1048943-128_T_F_19086552rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg02/02/1702/02/17151Genomicunknown
ss2701347410GRF|rs1048943rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg02/13/1702/13/17151Genomicunknown
ss2710661876ILLUMINA|Consortium-OncoArray_15047405_A_rs1048943-128_T_F_1908655209rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg03/22/1703/22/17151Genomicunknown
ss2741397950GNOMAD|exomes_rs1048943rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/17/1705/17/17151Genomicunknown
ss2749350460GNOMAD|coding_rs1048943rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/17/1705/17/17151Genomicunknown
ss2936799546GNOMAD|rs1048943rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/23/1705/23/17151Genomicunknown
ss2985046746AFFY|Axiom_PsorMich_Affx-11968489rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/24/1705/24/17151Genomicunknown
ss2985680230AFFY|Axiom_Smokesc1_Affx-11968489rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/24/1705/24/17151Genomicunknown
ss3013550208SWEGEN|NC_000015.9:g.75012985T>Crev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg05/30/1705/30/17151Genomicunknown
ss3021649353ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm1176861-0_B_F_1922889925rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg06/28/1706/28/17151Genomicunknown
ss3231998289TOPMED|TOPMed_freeze_5?chr15:74,720,644rev/C/Taagagaaagacctcccagcgggcaaggtctcaccgatacacttccgcttg10/01/1710/01/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1048943|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C/G/T'|mol=Genomic|build=151
 ACCTGATTAG GGTTAGTGGG AGGGACACGG CATGGGAGAC AGGGAGATTT GCCTGTTGCC
 CTGAGCCTGA CTGAGCTTCC TTTCTCCCTA GCACAACAAG AGACACAAGT TTGAAAGGCT
 TTTACATCCC CAAGGGGCGT TGTGTCTTTG TAAACCAGTG GCAGATCAAC CATGACCAGT
 AAGTTCAGAG ATGCAGAGGA AAGGCTGGGT CCACCCTCTT AAGCTCTTAT ATATGATTAA
 TACAATCATT GCATTGATCC TCCTGTCCAT GGGCTGCTTG CCTGTCCTCT ATCCTTTGGG
 GCTGGAGCTC CACTCACTTG ACACTTCTGA GCCCTGAACT GCCACTTCAG CTGTCTCCCT
 CTGGTTACAG GAAGCTATGG GTCAACCCAT CTGAGTTCCT ACCTGAACGG TTTCTCACCC
 CTGATGGTGC TATCGACAAG GTGTTAAGTG AGAAGGTGAT TATCTTTGGC ATGGGCAAGC
 GGAAGTGTAT CGGTGAGACC
 N
 TTGCCCGCTG GGAGGTCTTT CTCTTCCTGG CTATCCTGCT GCAACGGGTG GAATTCAGCG
 TGCCACTGGG CGTGAAGGTG GACATGACCC CCATCTATGG GCTAACCATG AAGCATGCCT
 GCTGTGAGCA CTTCCAAATG CAGCTGCGCT CTTAGGTGCT TGAGAGCCCT GAGGCCTAGA
 CTCTGTCTAC CTGGTCTGGT TGGGCAGCCA GACCAGCAGG CTGGCCTATG TGGTCTAAGG
 TTCAGCCTGA AACTCATAGA CACTGATCTG GCTGCAGTTT TGCTATCTGG GCTGTGGGCA
 AGCCTAAGGG ATCCTGCCTG CCCCTACCCT GGACTTGCCT CTGCACACCC TCCAGAGACA
 ACAGGTAAAA CAGGGCCACA TAGATGCTGA TGGAGCCTTC CCAAGTTGTG CTTGAGCCAG
 GAGGCCTGCT AGGGTTAGGA GGTCCTTAGG CCTCTGAGAA GCTCTGAAGA ACTCTCTGGA
 AGCCCCTGGG CCCAGTACCT

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
X04300 Hs.72912 X04300
dbSNP Blast Analysis
UniGene Cluster ID
72912

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1048943 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
C/C
C/T
G/G
T/T
HWPA
C
G
T
ss1354126634EAS 1008AF 0.74800003 0.25200000
EUR 1006AF 0.96520001 0.03480000
AFR 1322AF 0.99320000 0.00680000
AMR 694AF 0.64550000 0.35450000
SAS 978AF 0.87320000 0.12680000
ss161151842Japanese 782GF 0.053708440.40153453 0.544757010.25059200 0.25447571 0.74552429
ss161733495ENSEMBL_celera 4IG0.50000000 0.50000000 0.50000000 0.50000000
ss1691925240ExAc_Aggregated_Populations121410AF 0.90598798 0.09401202
ss236837857pilot_1_CEU_low_coverage_panel 120AF 0.95833331 0.04166667
ss243214147pilot_1_CHB+JPT_low_coverage_panel 120AF 0.77499998 0.22499999
ss3176140MITOGPOP6multiple 60IG0.966666640.03333334 1.000000000.98333335 0.01666667
ss342408507ESP_Cohort_Populations 4552GF0.954745170.04525483 0.273322000.97737259 0.02262742
ss4044521CEPH 184AF 1.00000000
ss48429964AGI_ASP populationmultiple 70IG 0.05714286 0.942857151.00000000 0.02857143 0.97142857
ss491704160CSAgilent 1063GF0.926999990.07300000 1.000000000.96350002 0.03650000
ss52067446HapMap-CEUEuropean 226IG0.938053070.06194690 1.000000000.96902657 0.03097345
HapMap-HCBAsian 86IG0.534883740.41860464 0.04651163 0.527089000.74418604 0.25581396
HapMap-JPTAsian 172IG0.616279070.34883720 0.03488372 0.654721000.79069769 0.20930232
HapMap-YRISub-Saharan African 118IG1.00000000 1.00000000
HAPMAP-ASW 98IG0.918367330.08163265 1.000000000.95918369 0.04081633
HAPMAP-CHBAsian 82IG0.609756110.31707317 0.07317073 0.527089000.76829267 0.23170732
HAPMAP-CHD 170IG0.564705910.37647060 0.05882353 1.000000000.75294119 0.24705882
HAPMAP-GIH 176IG0.795454560.20454545 0.654721000.89772725 0.10227273
HAPMAP-MEX 100IG0.540000020.38000000 0.08000000 1.000000000.73000002 0.27000001
HAPMAP-TSI 176IG0.943181810.05681818 1.000000000.97159094 0.02840909
ENSEMBL_Watson 2IG1.00000000 1.00000000
ENSEMBL_Venter 2IG1.00000000 1.00000000
ss5586386P1 196AF0.775999960.21399999 0.01000000 0.751830000.88300002 0.11700000
CAUC1 58AF0.759000000.24100000 0.479500000.87900001 0.12099999
AFR1 48AF1.00000000 1.00000000
HISP1 44AF0.681999980.27300000 0.04500000 0.751830000.81800002 0.18199998
PAC1 46AF0.652000010.34799999 0.317310000.82599998 0.17399999
ss69181359HapMap-CEUEuropean 120IG0.866666670.13333334 1.000000000.93333334 0.06666667
HapMap-HCBAsian 90IG0.533333360.42222223 0.04444445 0.479500000.74444443 0.25555557
HapMap-JPTAsian 90IG0.644444470.31111112 0.04444445 1.000000000.80000001 0.20000000
HapMap-YRISub-Saharan African 120IG1.00000000 1.00000000
ss69357106EGP_YORUB-PANELSub-Saharan African 22AF 1.00000000
EGP_HISP-PANELHispanic 44AF 0.56818181 0.43181819
EGP_CEPH-PANELEuropean 44AF 0.93181819 0.06818182
EGP_AD-PANELAfrican American 28AF 0.96428573 0.03571429
EGP_ASIAN-PANELAsian 48AF 0.75000000 0.25000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.170+/-0.2370000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNYESYES

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