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Reference SNP (refSNP) Cluster Report: rs3849942                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:108/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS PheGenI
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (REV)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1825/914 (1000 Genomes)
T=0.2027/25453 (TOPMED)
HGVS Names
  • CM000671.2:g.27543283T>A
  • CM000671.2:g.27543283T>C
  • NC_000009.11:g.27543281T>C
  • NC_000009.12:g.27543283T>A
  • NC_000009.12:g.27543283T>C
  • XR_001746639.1:n.710A>G
  • XR_001746639.1:n.710A>T
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 ss280166833 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs3849942 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
ss5181225TSC-CSHL|TSC1062283byFreqfwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat09/20/0204/07/04108Genomicunknown
ss5337885TSC-CSHL|TSC1571670rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg09/20/0210/10/03108Genomicunknown
ss5346400TSC-CSHL|TSC1554179fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat09/20/0210/10/03108Genomicunknown
ss5869872SC_JCM|NT_023974.12_8935388rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg01/10/0310/10/03111Genomicunknown
ss16192846SC_SNP|NT_008413.16_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg11/18/0311/22/03120Genomicunknown
ss22860097SSAHASNP|WGSA-200403-chr9.chr9.NT_008413.16_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg03/21/0403/22/04121Genomicunknown
ss43748642ABI|hCV27515934rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg07/18/0507/18/05126Genomicunknown
ss66714836ILLUMINA|HumanHap300v1.1_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat11/09/0611/09/06127Genomicunknown
ss67308431ILLUMINA|HumanHap550v1.1_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat11/14/0611/14/06127Genomicunknown
ss67713840ILLUMINA|HumanHap650Yv1.0_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat11/14/0611/14/06127Genomicunknown
ss70787084ILLUMINA|HumanHap550v3.0__rs3849942rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg04/20/0703/30/08130Genomicunknown
ss71364030ILLUMINA|HumanHap650Yv3.0_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat04/23/0704/23/07127Genomicunknown
ss75669620ILLUMINA|ILMN_Human_1M_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat08/28/0708/29/07129Genomicunknown
ss79170992ILLUMINA|HumanHap300v2.0_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat04/18/0711/18/07130Genomicunknown
ss84205581KRIBB_YJKIM|KHS657682fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat12/04/0712/06/07130Genomicunknown
ss85851523HGSV|Cor19129_SNV_20070510.chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/06/0712/10/07130Genomicunknown
ss86085721HGSV|Cor18517_SNV_20070510.chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/06/0712/11/07130Genomicunknown
ss94035636BCMHGSC_JDW|JWB-2578190rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg02/26/0803/05/08129Genomicunknown
ss97716350HUMANGENOME_JCVI|1103652057437rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg03/30/0803/30/08130Genomicunknown
ss105672615BGI|BGI_rs3849942rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg09/10/0806/18/09130Genomicunknown
ss1087040651000GENOMES|CEU.trio.12.15.2008_2160452_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/16/0812/16/08130Genomicunknown
ss1143586001000GENOMES|NA19240_2008_12_16_1953082_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/18/0812/18/08130Genomicunknown
ss115716368ILLUMINA-UK|NA18507_000046781_NCBI36.1_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg01/15/0901/16/09130Genomic99 %
ss122244987ILLUMINA|HumanCNV370v1_C_rs3849942fwd/TA/Gccacaggtctagctagtacgtatttcttttttgcatttattacactattcctttgcttat04/14/0904/15/09131Genomicunknown
ss134169411ENSEMBL|ENSSNP2974092rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/08/0810/15/09131Genomicunknown
ss144040560ENSEMBL|ENSSNP13624904rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg06/05/0906/06/09131Genomicunknown
ss154274901ILLUMINA|Human610_Quadv1_B_rs3849942-128_B_R_1501765964rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg06/18/0906/20/09131Genomicunknown
ss157352457GMI|GMI_SNP_31961650rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg06/24/0906/25/09131Genomicunknown
ss159451614ILLUMINA|Human660W-Quad_v1_A_rs3849942-128_B_R_1501765964rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg07/06/0907/07/09131Genomicunknown
ss160650497ILLUMINA|HumanOmni1-Quad_v1-0_B_rs3849942-128_B_R_1501765964rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg08/04/0910/04/09131Genomicunknown
ss163993803COMPLETE_GENOMICS|NA07022_36_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg09/29/0909/29/09132Genomicunknown
ss164864032COMPLETE_GENOMICS|NA19240_36_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg09/29/0909/30/09132Genomicunknown
ss166346437COMPLETE_GENOMICS|NA20431_36_chr9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg09/30/0909/30/09132Genomicunknown
ss171694343ILLUMINA|HumanCNV370-Quadv3_C_rs3849942-128_B_R_1501765964rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg10/01/0910/04/09132Genomicunknown
ss173661554ILLUMINA|Human1M-Duov3_B_rs3849942-128_B_R_1501765964rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg10/01/0910/04/09132Genomicunknown
ss200275735BUSHMAN|BUSHMAN-chr9-27533280rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg02/16/1003/07/10132Genomicunknown
ss206637833BCM-HGSC-SUB|BCM_CMT_1011-1810577rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg03/15/1003/18/10132Genomicunknown
ss2241993821000GENOMES|pilot_1_YRI_6009065_chr9_27533281rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg04/22/1004/22/10132Genomicunknown
ss2347811571000GENOMES|pilot_1_CEU_4385786_chr9_27533281rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg05/01/1005/01/10132Genomicunknown
ss2415630551000GENOMES|pilot_1_CHB+JPT_3448132_chr9_27533281rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg05/01/1005/01/10132Genomicunknown
ss254144753BL|SNP34904_9_27533281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg08/19/1008/19/10134Genomicunknown
ss280166833GMI|GMI_AK_SNP_4487106rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/16/1012/16/10137Genomicunknown
ss285995271GMI|GMI_NA10851_SNP_2008044rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg12/17/1012/17/10138Genomicunknown
ss294425425PJP|SNP_3931783_chr9_27533281rev/C/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg01/21/1101/21/11134Genomicunknown
ss480860449ILLUMINA|HumanOmni2.5-4v1_B_rs3849942-128_B_R_1770555934rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc01/30/1210/29/16137Genomicunknown
ss480878878ILLUMINA|HumanOmniExpress-12v1_C_rs3849942-131_B_R_1857509274rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc01/30/1210/27/16137Genomicunknown
ss481816635ILLUMINA|HumanOmni1-Quad_v1-0_C_rs3849942-131_B_R_1865203354rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc01/30/1208/28/15146Genomicunknown
ss485225242ILLUMINA|HumanOmni2.5-4v1_D_rs3849942-131_B_R_1857509274rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc01/30/1210/28/16137Genomicunknown
ss491421498EXOME_CHIP|.GWAS._137724_chr_9_27543281rev/BC/Tataagcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacctgtgg03/05/1203/05/12137Genomicunknown
ss537203456ILLUMINA|HumanOmni5-4v1_B_rs3849942-131_B_R_1866548647rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc06/22/1208/29/15146Genomicunknown
ss561331570TISHKOFF|snp_chr9_27543281rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/22/1211/23/12138Genomicunknown
ss655767608SSMP|9_27543281rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc12/14/1202/12/15138Genomicunknown
ss778526967ILLUMINA|HumanOmni25Exome-8v1_A_rs3849942-131_B_R_1866548647rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/30/1307/10/15146Genomicunknown
ss780684768ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/30/1307/10/15146Genomicunknown
ss783058578ILLUMINA|HumanOmni2.5-4v1_H_rs3849942-131_B_R_1857509274rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/30/1307/29/15146Genomicunknown
ss783358234ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/31/1306/19/15146Genomicunknown
ss784016735ILLUMINA|HumanOmniExpressExome-8v1_A_rs3849942-131_B_R_1967904262rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/31/1306/19/15146Genomicunknown
ss825501510ILLUMINA|HumanCNV370v1_C_rs3849942-126_B_R_IFB1136006841:0rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc06/24/1311/21/14144Genomicunknown
ss832316510ILLUMINA|HumanOmniExpress-12v1_H_rs3849942-131_B_R_1857509274rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc09/17/1306/19/15146Genomicunknown
ss833983452ILLUMINA|HumanOmni2.5-8v1_A_rs3849942-131_B_R_1866548647rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc09/18/1307/29/15146Genomicunknown
ss986462711EVA-GONL|EVA-GONL_rs3849942rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc04/23/1404/25/14142Genomicunknown
ss1076231407JMKIDD_LAB|HGDP_WGS_chr9_27543281rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc07/10/1407/11/14142Genomicunknown
ss13334856771000GENOMES|PHASE3_V1_45973638rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc08/16/1408/16/14142Genomicunknown
ss1431795277DDI|DDI_rs3849942rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/04/1411/05/14144Genomicunknown
ss1583047281EVA_GENOME_DK|EVA_GENOME_DK_snv_rs3849942rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/19/1502/20/15144Genomicunknown
ss1596097835EVA_DECODE|EVA_DECODE_9_27533281_274455_rs3849942rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc03/02/1503/03/15144Genomicunknown
ss1622554467EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_9_27543281_25436294rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc03/04/1503/04/15144Genomicunknown
ss1665548500EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_9_27543281_25436294rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc03/04/1503/04/15144Genomicunknown
ss1713102278EVA_SVP|EVA_SVP_796645rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc03/12/1503/12/15144Genomicunknown
ss1752773728ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/27/1506/09/15146Genomicunknown
ss1752773729ILLUMINA|OmniExpressExome-8v1-1_B_rs3849942-131_B_R_1967904262rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/27/1506/09/15146Genomicunknown
ss1805944137HAMMER_LAB|Hsieh_4960302rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc07/15/1507/16/15146Genomicunknown
ss1917835423ILLUMINA|HumanExome-12v1-1_B_exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/16/1510/16/15147Genomicunknown
ss1929746566WEILL_CORNELL_DGM|SNV:chr9:27543281rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/16/1510/17/15147Genomicunknown
ss1946256137ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/29/1510/29/15147Genomicunknown
ss1959176055ILLUMINA|exm-rs3849942-131_B_R_1990482919rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/13/1511/13/15147Genomicunknown
ss1971188922GENOMED|rs3849942rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/16/1602/16/16147Genomicunknown
ss2025584765JJLAB|SNP6087320rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc08/29/1608/30/16149Genomicunknown
ss2094835300ILLUMINA|Immuno_BeadChip_11419691_B_rs3849942-131_B_R_1866548647rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc09/27/1609/27/16150Genomicunknown
ss2095220742ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs3849942-131_B_R_1866548647rev/BC/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc09/27/1609/27/16150Genomicunknown
ss2153810367USC_VALOUEV|NC_000009.11:g.27543281T>Crev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/17/1611/17/16150Genomicunknown
ss2310600284HUMAN_LONGEVITY|HLI-9-27543283-T-Crev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/18/1611/18/16150Genomicunknown
ss2480696107TOPMED|9_27543281_T/Crev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc11/20/1611/20/16150Genomicunknown
ss2627265512SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV3868845rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc01/06/1701/06/17151Genomicunknown
ss2634855651ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs3849942-131_T_F_2131rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/02/1702/02/17151Genomicunknown
ss2634855652ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs3849942-131_B_R_19679042rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/02/1702/02/17151Genomicunknown
ss2634855653ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs3849942-131_T_F_2130rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/02/1702/02/17151Genomicunknown
ss2709616703GRF|rs3849942rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc02/13/1702/13/17151Genomicunknown
ss2877057893GNOMAD|rs3849942rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/19/1705/19/17151Genomicunknown
ss2985459256AFFY|Axiom_PsorMich_Affx-33606941rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/24/1705/24/17151Genomicunknown
ss2986105327AFFY|Axiom_Smokesc1_Affx-33606941rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/24/1705/24/17151Genomicunknown
ss3004609042SWEGEN|NC_000009.11:g.27543281T>Crev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc05/30/1705/30/17151Genomicunknown
ss3022920563ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs3849942-131_B_R_1990482919rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc06/28/1706/28/17151Genomicunknown
ss3022920564ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs3849942-138_B_R_2264360609rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc06/28/1706/28/17151Genomicunknown
ss3026581045BIOINF_KMB_FNS_UNIBA|9.27543283T>Crev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc07/05/1707/05/17151Genomicunknown
ss3348589790CSHL|rs3849942rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/02/1710/02/17151Genomicunknown
ss3585803920TOPMED|TOPMed_freeze_5?chr9:27,543,283-01rev/A/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/07/1710/07/17151Genomicunknown
ss3585803921TOPMED|TOPMed_freeze_5?chr9:27,543,283-02rev/C/Tcaaaggaatagtgtaataaatgcaaaaaagaaatacgtactagctagacc10/07/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs3849942|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 CACACATTCT TTCCAAGAGT ACATGAAACA TGTACCAAGA TAGACCGTAT TTTGAGCCAT
 GAAACAAATC TTGATAAATT TAAAAGGATT CAAGTCATAG AAAATATGTT CTCTGACCAC
 AATGGAATTA AATTATTAAC CAATAACAAA TATCTGGGAA AACCTCAAAA ACTTGGACAC
 CAGCGCTTTT AAAAGACTAA ATAATTTCTA AATTATCTGT GTTGGGGGGA AAAGAGAAAT
 GGATTAGAGA GCAAAAAGGG TATCAGAGTG CTGTGGTACG ATTTTTATGA AGAGTGGAAC
 AGAATCTGCC TTTGGCGTTT CCCCACTACA GCCCATTCTT CACATTGATA ACAGCATGAT
 CCTTCTAAAA TTAAATCTAA CGATCACTTC TGCTTAATGG CTCTCCAACA CTTACAGAAT
 TAGGTCCAAA ATTCTAGCAC AGTTTCTGTT CATCTTTCTA ACCTTTCTTC CCACAGGTCT
 AGCTAGTACG TATTTCTTTT
 D
 TTGCATTTAT TACACTATTC CTTTGCTTAT CTATCTCCCC ACCTAGGCTA AAGAACAAGA
 TTCTTGTCTT TTTCATTTTT GTGTCTCAGT GCCTAGCATG GTGCCAGGCA CACAGCATGC
 TTCCAGTAAA TGTTAGCTGG ATGGATGTAA TGAGTATATT AAATATTAAT TTATTTGTTT
 TTCCCCAAAA AGAATTATTT CCTGCAAATC AAGGAAATTG CTTTCTTTAT ATAATCAAAA
 ACTTATTTTC CCAGAAGATT CTTCATTAAA AATTAAGCCT ATGCACAACC TAGCTCTAAA
 GTTTCAAAGA TTTTAGGCAG CAATTTTTCA ATCTTTTTGA AGTAATACAT TTGAATCTTT
 TCAAATTTCT GTTTCTGCAT TTGTGCCACA CCATCTCATC TCTTGCTGAA ATGTTTTTGT
 TAAATTAATT GCTTGATAAA TTGCTAAGTA CTTTTCATCA GACCAATTAG GACAATAGTA
 AGTATCCATC TGTGGAGCGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023974.12 ABBA01065127
dbSNP Blast Analysis
OMIM
105550

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs3849942 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
ss115716368YRI 2IG 1.00000000 0.500000000.50000000
ss1333485677EAS 1008AF 0.093300000.90670002
EUR 1006AF 0.232600000.76739997
AFR 1322AF 0.246599990.75340003
AMR 694AF 0.147000000.85299999
SAS 978AF 0.161599990.83840001
ss134169411ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss144040560ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss163993803CEUEuropean 2IG 1.00000000 1.00000000
ss164864032YRISub-Saharan African 2IG 1.00000000 1.00000000
ss166346437PGP 2IG 1.00000000 1.00000000
ss224199382pilot_1_YRI_low_coverage_panel 118AF 0.177966100.82203388
ss234781157pilot_1_CEU_low_coverage_panel 120AF 0.216666670.78333336
ss241563055pilot_1_CHB+JPT_low_coverage_panel 120AF 0.058333330.94166666
ss5181225HapMap-CEUEuropean 226IG0.088495570.292035400.619469050.050043000.234513270.76548672
HapMap-HCBAsian 86IG 0.116279070.883720931.000000000.058139540.94186044
HapMap-JPTAsian 172IG 0.151162790.848837201.000000000.075581390.92441863
HapMap-YRISub-Saharan African 226IG0.026548670.371681420.601769920.250592000.212389380.78761059
HAPMAP-ASW 98IG0.040816330.285714300.673469360.751830000.183673470.81632656
HAPMAP-CHBAsian 82IG 0.170731710.829268281.000000000.085365850.91463417
HAPMAP-CHD 170IG0.011764710.164705890.823529421.000000000.094117650.90588236
HAPMAP-GIH 176IG0.011363640.238636360.750000000.654721000.130681810.86931819
HAPMAP-LWK 180IG0.066666670.433333340.500000000.527089000.283333330.71666664
HAPMAP-MEX 100IG0.020000000.040000000.940000000.000999000.040000000.95999998
HAPMAP-MKK 286IG0.076923080.412587400.510489521.000000000.283216770.71678323
HAPMAP-TSI 176IG0.068181820.420454530.511363630.751830000.278409090.72159094
ss97716350J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.298+/-0.2450000ALFRED: 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
byClusterbyFreqwith2hitWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNPNCBI
UNKNOWNUNKNOWNUNKNOWN

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