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Reference SNP (refSNP) Cluster Report: rs1738074                 **Clinical Channel**
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
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (REV)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:C=0.4663/2335 (1000 Genomes)
C=0.4747/59602 (TOPMED)
HGVS Names
  • CM000668.2:g.159044945T>C
  • NC_000006.11:g.159465977T>C
  • NC_000006.12:g.159044945T>C
  • NG_011524.1:g.5208A>G
  • NM_054114.4:c.-125A>G
  • NM_138810.3:c.-125A>G
  • NM_152133.2:c.-492A>G
  • XR_001744430.1:n.1246+2637T>C
  • XR_001744431.1:n.-188T>C
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 ss279100831 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1738074 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
ss2580301SC_JCM|AL035530.11_27844byFreqfwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc11/03/0005/16/0489Genomicunknown
ss10293237BCM_SSAHASNP|chr6.NT_007422.12_1753316rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag06/27/0310/10/03116Genomicunknown
ss11791514WI_SSAHASNP|chr6.NT_007422.12_1753316rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag07/04/0310/10/03116Genomicunknown
ss24050360PERLEGEN|afd4222142byFreqrev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag08/10/0409/13/04123Genomicunknown
ss44728727ABI|hCV2966098byFreqrev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag07/19/0511/03/06126Genomicunknown
ss65737608ILLUMINA|Human1-rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc10/10/0610/10/06127Genomicunknown
ss66577686ILLUMINA|HumanHap300v1.1_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc11/09/0611/09/06127Genomicunknown
ss67185118ILLUMINA|HumanHap550v1.1_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc11/14/0611/14/06127Genomicunknown
ss67558478ILLUMINA|HumanHap650Yv1.0_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc11/14/0611/14/06127Genomicunknown
ss68404562CSHL-HAPMAP|sanger:assay:1631823:1byFreqrev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag01/11/0701/16/07127NAunknown
ss68998300PERLEGEN|PGP04222142byFreqrev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag01/30/0708/14/07127Genomicunknown
ss70663180ILLUMINA|HumanHap550v3.0__rs1738074rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag04/20/0703/30/08130Genomicunknown
ss71224644ILLUMINA|HumanHap650Yv3.0_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc04/23/0704/23/07127Genomicunknown
ss71645163SI_EXO|NT_007422.13_1753316byFreqrev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag05/07/0703/31/08127Genomicunknown
ss74955452ILLUMINA|ILMN_Human_1M_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc08/28/0708/29/07129Genomicunknown
ss78396852HGSV|Cor12878_SNV_20070510.chr6_159436386rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag10/17/0710/19/07129Genomicunknown
ss79090764ILLUMINA|HumanHap300v2.0_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc04/18/0711/18/07130Genomicunknown
ss83868106KRIBB_YJKIM|KHS561017fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc12/04/0712/05/07130Genomicunknown
ss85480320HGSV|Cor19129_SNV_20070510.chr6_159436386rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/06/0712/09/07130Genomicunknown
ss93591776BCMHGSC_JDW|JWB-2243575rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag02/26/0803/04/08129Genomicunknown
ss1112025651000GENOMES|CEU.trio.12.15.2008_1660392_chr6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/17/0812/17/08130Genomicunknown
ss1153912641000GENOMES|NA19240_2008_12_16_1493010_chr6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/19/0812/19/08130Genomicunknown
ss121796039ILLUMINA|HumanCNV370v1_C_rs1738074fwd/TA/Gctcccagtggactagaaggagcagagagtttgctgtttctcccattctttacagctcacc04/14/0904/14/09131Genomicunknown
ss144095107ENSEMBL|ENSSNP8836092rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/08/0810/20/09131Genomicunknown
ss144399427ENSEMBL|ENSSNP13172251rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag06/05/0906/06/09131Genomicunknown
ss153672569ILLUMINA|Human610_Quadv1_B_rs1738074-128_B_R_1501682990rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag06/18/0906/19/09131Genomicunknown
ss157809990GMI|GMI_SNP_45039474rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag06/24/0906/25/09131Genomicunknown
ss159317236ILLUMINA|Human660W-Quad_v1_A_rs1738074-128_B_R_1501682990rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag07/06/0907/06/09131Genomicunknown
ss160441729ILLUMINA|HumanOmni1-Quad_v1-0_B_rs1738074-128_B_R_1512055900rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag08/04/0910/02/09131Genomicunknown
ss162960039COMPLETE_GENOMICS|NA07022_36_chr6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag09/28/0909/29/09132Genomicunknown
ss165070541COMPLETE_GENOMICS|NA19240_36_chr6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag09/29/0909/30/09132Genomicunknown
ss167437542COMPLETE_GENOMICS|NA20431_36_chr6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag09/30/0909/30/09132Genomicunknown
ss170779361ILLUMINA|HumanCNV370-Quadv3_C_rs1738074-128_B_R_1501682990rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag10/01/0910/03/09132Genomicunknown
ss172820282ILLUMINA|Human1M-Duov3_B_rs1738074-128_B_R_1501682990rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag10/01/0910/02/09132Genomicunknown
ss207492248BCM-HGSC-SUB|BCM_CMT_1011-1296252rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag03/15/1003/19/10132Genomicunknown
ss2227887901000GENOMES|pilot_1_YRI_4598473_chr6_159385965rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag04/22/1004/22/10132Genomicunknown
ss2337638991000GENOMES|pilot_1_CEU_3368528_chr6_159385965rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag05/01/1005/01/10132Genomicunknown
ss2407621001000GENOMES|pilot_1_CHB+JPT_2647177_chr6_159385965rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag05/01/1005/01/10132Genomicunknown
ss254782978BL|SNP176342_6_159385965rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag08/19/1008/19/10134Genomicunknown
ss279100831GMI|GMI_AK_SNP_3421073rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/16/1012/16/10137Genomicunknown
ss285538324GMI|GMI_NA10851_SNP_1551097rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag12/17/1012/17/10138Genomicunknown
ss293772937PJP|SNP_3279295_chr6_159385965rev/C/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag01/21/1101/21/11134Genomicunknown
ss480234833ILLUMINA|HumanOmni2.5-4v1_B_rs1738074-128_B_R_1616886980rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact01/30/1210/28/16137Genomicunknown
ss480245606ILLUMINA|HumanOmniExpress-12v1_C_rs1738074-131_B_R_1856963435rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact01/30/1210/27/16137Genomicunknown
ss480983051ILLUMINA|HumanOmni1-Quad_v1-0_C_rs1738074-131_B_R_1865716875rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact01/30/1208/28/15146Genomicunknown
ss484915427ILLUMINA|HumanOmni2.5-4v1_D_rs1738074-131_B_R_1856963435rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact01/30/1210/28/16137Genomicunknown
ss491394201EXOME_CHIP|.GWAS._110427_chr_6_159465977rev/BC/Tggtgagctgtaaagaatgggagaaacagcaaactctctgctccttctagtccactgggag03/05/1203/05/12137Genomicunknown
ss536966861ILLUMINA|HumanOmni5-4v1_B_rs1738074-131_B_R_1885470586rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact06/22/1208/29/15146Genomicunknown
ss559661433TISHKOFF|snp_chr6_159465977rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/22/1211/23/12138Genomicunknown
ss654004687SSMP|6_159465977rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact12/14/1202/11/15138Genomicunknown
ss778460584ILLUMINA|HumanOmni25Exome-8v1_A_rs1738074-131_B_R_1865716875rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/30/1307/09/15142Genomicunknown
ss780682458ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/30/1307/09/15142Genomicunknown
ss782904024ILLUMINA|HumanOmni2.5-4v1_H_rs1738074-131_B_R_1856963435rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/30/1307/28/15146Genomicunknown
ss783355809ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/31/1306/19/15142Genomicunknown
ss783867333ILLUMINA|HumanOmniExpressExome-8v1_A_rs1738074-131_B_R_1885470586rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/31/1306/19/15142Genomicunknown
ss825421282ILLUMINA|HumanCNV370v1_C_rs1738074-126_B_R_IFB1135151668:0rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact06/24/1311/21/14144Genomicunknown
ss832158859ILLUMINA|HumanOmniExpress-12v1_H_rs1738074-131_B_R_1856963435rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/17/1306/19/15146Genomicunknown
ss833916285ILLUMINA|HumanOmni2.5-8v1_A_rs1738074-131_B_R_1865716875rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/18/1307/28/15142Genomicunknown
ss983719530EVA-GONL|EVA-GONL_rs1738074rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact04/23/1404/24/14142Genomicunknown
ss1074199094JMKIDD_LAB|HGDP_WGS_chr6_159465977rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact07/10/1407/11/14142Genomicunknown
ss13231079741000GENOMES|PHASE3_V1_35193188rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact08/16/1408/16/14142Genomicunknown
ss1397478004HAMMER_LAB|HAMMER_LAB_rs1738074rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/30/1407/15/15146Genomicunknown
ss1430956685DDI|DDI_rs1738074rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/04/1411/05/14144Genomicunknown
ss1581980272EVA_GENOME_DK|EVA_GENOME_DK_snv_rs1738074rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/19/1502/20/15144Genomicunknown
ss1593295887EVA_DECODE|EVA_DECODE_6_159385965_1259936_rs1738074rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact03/02/1503/03/15144Genomicunknown
ss1617148128EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_159465977_19524373rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact03/04/1503/04/15144Genomicunknown
ss1660142161EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_159465977_19524373rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact03/04/1503/04/15144Genomicunknown
ss1712916016EVA_SVP|EVA_SVP_610383rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact03/12/1503/12/15144Genomicunknown
ss1752612166ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/27/1506/09/15146Genomicunknown
ss1752612167ILLUMINA|OmniExpressExome-8v1-1_B_rs1738074-131_B_R_1885470586rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/27/1506/09/15146Genomicunknown
ss1804766327HAMMER_LAB|Hsieh_3777838rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact07/15/1507/16/15146Genomicunknown
ss1917812934ILLUMINA|HumanExome-12v1-1_B_exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/16/1510/16/15147Genomicunknown
ss1926961600WEILL_CORNELL_DGM|SNV:chr6:159465977rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/16/1510/17/15147Genomicunknown
ss1946196765ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/29/1510/29/15147Genomicunknown
ss1946196766ILLUMINA|HumanCoreExome-12v1-0_C_rs1738074-131_B_R_1885470586rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/29/1510/29/15147Genomicunknown
ss1958967885ILLUMINA|exm-rs1738074-131_B_R_1990480179rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/13/1511/13/15147Genomicunknown
ss1958967886ILLUMINA|rs1738074-131_B_R_1885470586rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/13/1511/13/15147Genomicunknown
ss2024146958JJLAB|SNP4649513rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact08/29/1608/30/16149Genomicunknown
ss2094968279ILLUMINA|Immuno_BeadChip_11419691_B_imm_6_159385965-1_B_F_1670198176rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/27/1609/27/16150Genomicunknown
ss2095192640ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_6_159385965-1_B_F_2310638857rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/27/1609/27/16150Genomicunknown
ss2095192641ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs1738074-138_B_R_2264330505rev/BC/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact09/27/1609/27/16150Genomicunknown
ss2152339739USC_VALOUEV|NC_000006.11:g.159465977T>Crev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/17/1611/17/16150Genomicunknown
ss2290128444HUMAN_LONGEVITY|HLI-6-159044945-T-Crev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/18/1611/18/16150Genomicunknown
ss2458818050TOPMED|6_159465977_T/Crev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact11/20/1611/20/16150Genomicunknown
ss2626563055SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2973166rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact01/06/1701/06/17151Genomicunknown
ss2634537995ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs1738074-131_B_R_2131rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/02/1702/02/17151Genomicunknown
ss2634537996ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs1738074-131_B_R_18854705rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/02/1702/02/17151Genomicunknown
ss2634537997ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs1738074-131_B_R_2130rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/02/1702/02/17151Genomicunknown
ss2635164975ILLUMINA|Cancer_BeadChip_11459870_A_rs1738074-128_B_R_1616886980rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/02/1702/02/17151Genomicunknown
ss2707977943GRF|rs1738074rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact02/13/1702/13/17151Genomicunknown
ss2711096519ILLUMINA|Consortium-OncoArray_15047405_A_rs1738074-131_B_R_1885470586rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact03/22/1703/22/17151Genomicunknown
ss2847481893GNOMAD|rs1738074rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/18/1705/18/17151Genomicunknown
ss2985393762AFFY|Axiom_PsorMich_Affx-28057613rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/24/1705/24/17151Genomicunknown
ss2986020060AFFY|Axiom_Smokesc1_Affx-28057613rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/24/1705/24/17151Genomicunknown
ss3000283530SWEGEN|NC_000006.11:g.159465977T>Crev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact05/30/1705/30/17151Genomicunknown
ss3022686330ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs1738074-131_B_R_1990480179rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact06/28/1706/28/17151Genomicunknown
ss3022686331ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs1738074-138_B_R_2264330505rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact06/28/1706/28/17151Genomicunknown
ss3025864056BIOINF_KMB_FNS_UNIBA|6.159044945T>Crev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact07/05/1707/05/17151Genomicunknown
ss3347324244CSHL|rs1738074rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/02/1710/02/17151Genomicunknown
ss3517297197TOPMED|TOPMed_freeze_5?chr6:159,044,945rev/C/Tgctgtaaagaatgggagaaacagcaaactctctgctccttctagtccact10/05/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1738074|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TCCAGGGGTG CTAATCAACG TGTGGTGCTG GTGGACAGAG CAGATGGCAC GTGGGAGGGG
 AAAGAGCACC CAAACAGGAT GCAAAAAGAG GCACTTGAAA TTACCACTTT AGAAAATAAA
 GTGATGTTTA TGCACAGAAT AACACAATTT CTTGTTCACA CATCCCACCT ATGACATTAA
 TCAGAGCCTT CACCTATGGG CTGAATGTCA TGTTTTCCAC TCCTAGTAGT TTACAGATTT
 TTTACTTTGA AGTGGAAGAC ACAAAAAAAA AAAAAAAAAA AAAAAAAAAA AAAGACATAG
 CTGCCCTAAA AGGAATGAGG AAGCGAGAGC TCTCCAGTGT CTGGCTGGCT CCGTCCGTGT
 GACAGCCCAT GATGTTCTTT CCGGTCTCTG TAATATTCTG AATTTCCACC TGCCCGCCCC
 TTCGCTTATA ATGCAGAGCA TGTGAAGGGA GACCGGCTCG GTCTCTCTCT CTCCCAGTGG
 ACTAGAAGGA GCAGAGAGTT
 R
 TGCTGTTTCT CCCATTCTTT ACAGCTCACC GGATGTAAAA GAACTCTGGC TAGAGACCCT
 CCAAGGGTAA GTACACTATA TATTAACATG CCTAGAAATT ACAAGCTGCC TCGCAAGTCA
 CAGGTCACTC AGATCACAGG CAACAGAAAA CAGCTATCCC GTGGAATATG CTCTCACTTT
 ATAAAGTCTC AGGACAAAGC TTTGCTTCAA CGTGAAGGCT GCACCTTTTT GGTGTAGGAG
 TTCTGTAAAT GTTATCTTTG TTTCATGTTT ACTATTTTAG CATCCTAGGG ATATGTTTTT
 TTTTTTTTCC TTTTTGGATT AGATGAGAAA ATCCATGCAA AGCACCTACT ACGACAGCTG
 GCATATAGTC AGCACTCCAC CAAAAAAGTT AATGTTCATG TTAATTTAAA ATGTTAACGT
 AATTGATATC CAGATTATCT CTTGATGGAA CGGAATAAAT TGGTAACAAC GTTTAGAGTG
 GTAAAGATAG TTGACTTAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_007422.13 AC024402
dbSNP Blast Analysis
UniGene Cluster ID
529984
OMIM
612521
222100
612010

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs1738074 allele is reverse to the genome back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1323107974EAS 1008AF 0.552600030.44739997
EUR 1006AF 0.433400010.56659997
AFR 1322AF 0.702000020.29800001
AMR 694AF 0.554799970.44520003
SAS 978AF 0.375299990.62470001
ss144095107ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss144399427ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss162960039CEUEuropean 2IG 1.00000000 1.00000000
ss165070541YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss167437542PGP 2IG 1.00000000 0.500000000.50000000
ss222788790pilot_1_YRI_low_coverage_panel 118AF 0.745762710.25423729
ss233763899pilot_1_CEU_low_coverage_panel 120AF 0.500000000.50000000
ss24050360AFD_EUR_PANELEuropean 48IG0.208333330.458333340.333333340.751830000.437500000.56250000
AFD_AFR_PANELAfrican American 46IG0.608695630.347826090.043478261.000000000.782608690.21739130
AFD_CHN_PANELAsian 48IG0.250000000.500000000.25000000 0.500000000.50000000
ss240762100pilot_1_CHB+JPT_low_coverage_panel 120AF 0.683333340.31666666
ss2580301CEPH 184AF 0.500000000.50000000
ss44728727AoD_African_American 90AF 0.709999980.28999999
AoD_Caucasian 92AF 0.490000010.50999999
ss71645163HapMap-CEUEuropean 226IG0.247787610.433628320.318584080.200325000.464601760.53539824
HapMap-HCBAsian 86IG0.418604640.418604640.162790700.527089000.627906980.37209302
HapMap-JPTAsian 172IG0.500000000.372093020.127906980.250592000.686046540.31395349
HapMap-YRISub-Saharan African 226IG0.486725660.415929200.097345141.000000000.694690290.30530974
HAPMAP-ASW 98IG0.653061210.306122450.040816331.000000000.806122420.19387755
HAPMAP-CHBAsian 80IG0.550000010.324999990.125000000.200325000.712499980.28749999
HAPMAP-CHD 168IG0.250000000.452380960.297619040.402784000.476190480.52380955
HAPMAP-GIH 176IG0.136363640.522727250.340909090.402784000.397727280.60227275
HAPMAP-LWK 180IG0.366666670.522222220.111111110.273322000.627777760.37222221
HAPMAP-MEX 100IG0.319999990.400000010.280000000.200325000.519999980.47999999
HAPMAP-MKK 286IG0.377622370.489510480.132867130.654721000.622377630.37762237
HAPMAP-TSI 176IG0.147727270.522727250.329545470.479500000.409090910.59090906

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.498+/-0.0340000ALFRED: 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_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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