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Reference SNP (refSNP) Cluster Report: rs236114                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/151
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:T=0.1650/19107 (ExAC)
T=0.1164/583 (1000 Genomes)
T=0.1714/2229 (GO-ESP)
T=0.1496/18789 (TOPMED)
HGVS Names
  • CM000682.2:g.5954739T>C
  • NC_000020.10:g.5935385T>C
  • NC_000020.11:g.5954739T>C
  • NG_042869.1:g.9088T>C
  • NM_001281520.1:c.336+49T>C
  • NM_001281521.1:c.336+49T>C
  • NM_001281522.1:c.336+49T>C
  • NM_032485.5:c.336+49T>C
  • NM_182802.2:c.336+49T>C
  • XR_001754422.1:n.676+49T>C
  • XR_001754423.1:n.676+49T>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 ss283287399 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs236114 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
ss304654KWOK|OVLP-000621-337644rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta06/30/0010/10/0379Genomic97 %
ss528306SC_JCM|AL035461.11_48002rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta07/12/0010/10/0387Genomicunknown
ss1033559KWOK|OVLP-000804-438587fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt09/02/0010/10/0386Genomic97 %
ss2027268KWOK|OVLP-000925-651660fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt10/06/0010/10/0387Genomic99 %
ss2058780KWOK|OVLP-000925-654361fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt10/06/0010/10/0387Genomic97 %
ss8367098SC_SNP|NT_011387.8_5875385byFreqrev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta04/17/0304/07/04114Genomicunknown
ss10956230BCM_SSAHASNP|chr20.NT_011387.8_5875385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta06/30/0310/10/03116Genomicunknown
ss12484259WI_SSAHASNP|chr20.NT_011387.8_5875385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta07/04/0310/10/03116Genomicunknown
ss20123480CSHL-HAPMAP|CSHL-HuFF-200402.chr20.NT_011387.8_5875385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta02/21/0403/04/04120Genomicunknown
ss21782962SSAHASNP|WGSA-200403-chr20.chr20.NT_011387.8_5875385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta03/20/0403/20/04121Genomicunknown
ss66006729AFFY|SNP_A-1648143rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/26/0610/26/06127Genomicunknown
ss66350092AFFY|SNP_A-1967552byFreqrev/BC/Ttgtgccatcttaccaagtattcgaggtacttg10/29/0608/14/07127Genomicunknown
ss66645183ILLUMINA|HumanHap300v1.1_rs236114fwd/BA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt11/09/0611/09/06127Genomicunknown
ss67249100ILLUMINA|HumanHap550v1.1_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt11/14/0611/14/06127Genomicunknown
ss67646577ILLUMINA|HumanHap650Yv1.0_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt11/14/0611/14/06127Genomicunknown
ss70727434ILLUMINA|HumanHap550v3.0__rs236114rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta04/20/0703/30/08130Genomicunknown
ss71296489ILLUMINA|HumanHap650Yv3.0_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt04/23/0704/23/07127Genomicunknown
ss75528904ILLUMINA|ILMN_Human_1M_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt08/28/0708/29/07129Genomicunknown
ss76061065AFFY|AFFY_6_1M_SNP_A-1967552rev/BC/Ttgtgccatcttaccaagtattcgaggtacttg08/28/0708/29/07130Genomicunknown
ss76888715SI_EXO|NT_011387.8_5875385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta09/20/0709/20/07129Genomicunknown
ss79131531ILLUMINA|HumanHap300v2.0_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt04/18/0711/18/07130Genomicunknown
ss80564516HGSV|Cor18507_SNV_20070510.chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta11/23/0711/26/07130Genomicunknown
ss83396986KRIBB_YJKIM|KHS451836fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt12/04/0712/04/07130Genomicunknown
ss86068372HGSV|Cor18956_SNV_20070510.chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta11/30/0712/11/07130Genomicunknown
ss91626197BCMHGSC_JDW|JWB-1414460rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta02/26/0803/02/08129Genomicunknown
ss96183686HUMANGENOME_JCVI|1103643149168rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta03/25/0803/25/08130Genomicunknown
ss106176722BGI|BGI_rs236114rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta09/13/0806/18/09130Genomicunknown
ss1116640321000GENOMES|CEU.trio.12.15.2008_3652953_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta12/17/0812/17/08130Genomicunknown
ss1154097291000GENOMES|NA19240_2008_12_16_3295161_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta12/19/0812/19/08130Genomicunknown
ss117469936ILLUMINA-UK|NA18507_000008580_NCBI36.1_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta01/19/0901/19/09130Genomic99 %
ss122014705ILLUMINA|HumanCNV370v1_C_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt04/14/0904/15/09131Genomicunknown
ss133063807ENSEMBL|ENSSNP1924413rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta12/08/0810/15/09131Genomicunknown
ss138204256ENSEMBL|ENSSNP5711540rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta05/15/0905/17/09131Genomicunknown
ss153906721ILLUMINA|Human610_Quadv1_B_rs236114-127_B_R_1501724606rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta06/18/0906/20/09131Genomicunknown
ss156121978GMI|GMI_SNP_793821rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta06/24/0906/24/09131Genomicunknown
ss159384576ILLUMINA|Human660W-Quad_v1_A_rs236114-128_B_R_1501724606rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta07/06/0907/07/09131Genomicunknown
ss160539856ILLUMINA|HumanOmni1-Quad_v1-0_B_rs236114-128_B_R_1501724606rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta08/04/0910/03/09131Genomicunknown
ss167741852COMPLETE_GENOMICS|NA07022_36_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta09/30/0909/30/09132Genomicunknown
ss168976266COMPLETE_GENOMICS|NA19240_36_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta10/01/0910/01/09132Genomicunknown
ss171218238ILLUMINA|HumanCNV370-Quadv3_C_rs236114-127_B_R_1501724606rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta10/01/0910/03/09132Genomicunknown
ss171860688COMPLETE_GENOMICS|NA20431_36_chr20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta10/01/0910/01/09132Genomicunknown
ss172361898AFFY|GenomeWideSNP_5_SNP_A-1967552rev/BC/Ttgtgccatcttaccaagtattcgaggtacttg10/01/0910/02/09132Genomicunknown
ss173307791ILLUMINA|Human1M-Duov3_B_rs236114-127_B_R_1501724606rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta10/01/0910/03/09132Genomicunknown
ss203819466BUSHMAN|BUSHMAN-chr20-5883384rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta02/16/1003/09/10132Genomicunknown
ss208597015BCM-HGSC-SUB|BCM_CMT_1011-3156963rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta03/15/1003/19/10132Genomicunknown
ss2282368061000GENOMES|pilot_1_YRI_10046489_chr20_5883385rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta04/22/1004/22/10132Genomicunknown
ss2377491361000GENOMES|pilot_1_CEU_7353765_chr20_5883385rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta05/01/1005/01/10132Genomicunknown
ss2439385781000GENOMES|pilot_1_CHB+JPT_5823655_chr20_5883385rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta05/01/1005/01/10132Genomicunknown
ss255459097BL|SNP7957_20_5883385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta08/20/1008/20/10134Genomicunknown
ss283287399GMI|GMI_AK_SNP_7607820rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta12/16/1012/16/10137Genomicunknown
ss287416948GMI|GMI_NA10851_SNP_3429739rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta12/17/1012/17/10138Genomicunknown
ss292602398PJP|SNP_2108756_chr20_5883385rev/C/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta01/21/1101/21/11134Genomicunknown
ss410922476ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs236114rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta06/07/1106/07/11135Genomicunknown
ss469415523PAGE_STUDY|PAGE_WHI_Y2_rs236114fwd/TA/Gtacgatcataatcacaagtacctcgaatacttggtaagatggcacatgactggtagcttt09/26/1109/26/11137Genomicunknown
ss480545098ILLUMINA|HumanOmni2.5-4v1_B_rs236114-128_B_R_1770552565rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga01/30/1210/28/16137Genomicunknown
ss480559192ILLUMINA|HumanOmniExpress-12v1_C_rs236114-131_B_R_1857213796rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga01/30/1210/27/16137Genomicunknown
ss481373798ILLUMINA|HumanOmni1-Quad_v1-0_C_rs236114-131_B_R_1865732920rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga01/30/1208/28/15146Genomicunknown
ss485068388ILLUMINA|HumanOmni2.5-4v1_D_rs236114-131_B_R_1857213796rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga01/30/1210/28/16137Genomicunknown
ss4911722421000GENOMES|20110521_exome_680040_chr20_5935385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta02/10/1202/22/12137Genomicunknown
ss491557847EXOME_CHIP|.GWAS._274073_chr_20_5935385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta03/05/1203/06/12137Genomicunknown
ss537082021ILLUMINA|HumanOmni5-4v1_B_rs236114-131_B_R_1885471805rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga06/22/1208/29/15146Genomicunknown
ss566114349TISHKOFF|snp_chr20_5935385rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/22/1211/23/12138Genomicunknown
ss661985381SSMP|20_5935385rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga12/14/1202/14/15138Genomicunknown
ss713557363NHLBI-ESP|ESP6500SI-chr20-5935385rev/BC/Taaagctaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatgatcgta02/20/1302/20/13138Genomicunknown
ss778866700ILLUMINA|HumanOmni25Exome-8v1_A_rs236114-131_B_R_1865732920rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/30/1307/10/15142Genomicunknown
ss780683363ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs236114-131_B_R_1990481245rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/30/1307/10/15142Genomicunknown
ss782980465ILLUMINA|HumanOmni2.5-4v1_H_rs236114-131_B_R_1857213796rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/30/1307/29/15146Genomicunknown
ss783356756ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs236114-131_B_R_1990481245rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/31/1306/19/15142Genomicunknown
ss783941503ILLUMINA|HumanOmniExpressExome-8v1_A_rs236114-131_B_R_1885471805rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/31/1306/19/15142Genomicunknown
ss825462049ILLUMINA|HumanCNV370v1_C_rs236114-121_B_R_IFB1135547802:0rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga06/24/1311/21/14144Genomicunknown
ss832236993ILLUMINA|HumanOmniExpress-12v1_H_rs236114-131_B_R_1857213796rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga09/17/1306/18/15146Genomicunknown
ss834327556ILLUMINA|HumanOmni2.5-8v1_A_rs236114-131_B_R_1865732920rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga09/18/1307/29/15142Genomicunknown
ss994505012EVA-GONL|EVA-GONL_rs236114rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga04/23/1405/01/14142Genomicunknown
ss1082045449JMKIDD_LAB|HGDP_WGS_chr20_5935385rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga07/10/1407/12/14142Genomicunknown
ss13639396291000GENOMES|PHASE3_V1_77695576rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga08/16/1408/16/14142Genomicunknown
ss1428985765DDI|DDI_rs236114rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/04/1411/04/14144Genomicunknown
ss1579423159EVA_GENOME_DK|EVA_GENOME_DK_snv_rs236114rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/19/1502/20/15144Genomicunknown
ss1638343058EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_20_5935385_42829322rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/04/1503/04/15144Genomicunknown
ss1681337091EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_20_5935385_42829322rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/04/1503/04/15144Genomicunknown
ss1693899251EVA_EXAC|EVA_EXAC_9354970rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/04/1503/04/15144Genomicunknown
ss1698559854EVA_DECODE|EVA_DECODE_20_5883385_49627_rs236114rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/02/1503/05/15144Genomicunknown
ss1711533188EVA_MGP|EVA_XIMO_648948rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/09/1503/09/15144Genomicunknown
ss1713676589EVA_SVP|EVA_SVP_1370668rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/12/1503/12/15144Genomicunknown
ss1752395685ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs236114-131_B_R_2060121628rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/27/1506/09/15146Genomicunknown
ss1752395686ILLUMINA|OmniExpressExome-8v1-1_B_rs236114-131_B_R_1885471805rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/27/1506/09/15146Genomicunknown
ss1809407607HAMMER_LAB|Hsieh_8437929rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga07/15/1507/16/15146Genomicunknown
ss1917944615ILLUMINA|HumanExome-12v1-1_B_exm-rs236114-131_B_R_2060121628rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/16/1510/16/15147Genomicunknown
ss1938015377WEILL_CORNELL_DGM|SNV:chr20:5935385rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/16/1510/19/15147Genomicunknown
ss1946546371ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs236114-131_B_R_2060121628rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/29/1510/29/15147Genomicunknown
ss1946546372ILLUMINA|HumanCoreExome-12v1-0_C_rs236114-131_B_R_1885471805rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/29/1510/29/15147Genomicunknown
ss1959895888ILLUMINA|exm-rs236114-131_B_R_1990481245rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/13/1511/13/15147Genomicunknown
ss1959895889ILLUMINA|rs236114-131_B_R_1885471805rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/13/1511/13/15147Genomicunknown
ss1969082382GENOMED|rs236114rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/16/1602/16/16147Genomicunknown
ss2029785415JJLAB|SNP10287970rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga08/29/1608/31/16149Genomicunknown
ss2094809475ILLUMINA|Immuno_BeadChip_11419691_B_rs236114-131_B_R_1865732920rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga09/27/1609/27/16150Genomicunknown
ss2095113120ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs236114-131_B_R_1865732920rev/BC/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga09/27/1609/27/16150Genomicunknown
ss2158340182USC_VALOUEV|NC_000020.10:g.5935385T>Crev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/17/1611/17/16150Genomicunknown
ss2241064685HUMAN_LONGEVITY|HLI-20-5954739-T-Crev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/18/1611/18/16150Genomicunknown
ss2407532103TOPMED|20_5935385_T/Crev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga11/19/1611/19/16150Genomicunknown
ss2629390010SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6563990rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga01/06/1701/06/17151Genomicunknown
ss2633772512ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_SoL-rs236114-131_B_R_21311rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/02/1702/02/17151Genomicunknown
ss2633772513ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs236114-131_B_R_188547180rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/02/1702/02/17151Genomicunknown
ss2633772514ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_seq-rs236114-131_B_R_21302rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/02/1702/02/17151Genomicunknown
ss2635103971ILLUMINA|Cancer_BeadChip_11459870_A_rs236114-128_B_R_1770552565rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/02/1702/02/17151Genomicunknown
ss2704012558GRF|rs236114rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga02/13/1702/13/17151Genomicunknown
ss2710932874ILLUMINA|Consortium-OncoArray_15047405_A_rs236114-131_B_R_1885471805rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga03/22/1703/22/17151Genomicunknown
ss2744457123GNOMAD|exomes_rs236114rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/17/1705/17/17151Genomicunknown
ss2750336775GNOMAD|coding_rs236114rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/17/1705/17/17151Genomicunknown
ss2965086942GNOMAD|rs236114rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/23/1705/23/17151Genomicunknown
ss2985208943AFFY|Axiom_PsorMich_Affx-17000970rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/24/1705/24/17151Genomicunknown
ss2985829576AFFY|Axiom_Smokesc1_Affx-17000970rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/24/1705/24/17151Genomicunknown
ss3017818253SWEGEN|NC_000020.10:g.5935385T>Crev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga05/30/1705/30/17151Genomicunknown
ss3022098008ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs236114-131_B_R_1990481245rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga06/28/1706/28/17151Genomicunknown
ss3022098009ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs236114-138_B_R_2264358906rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga06/28/1706/28/17151Genomicunknown
ss3028725205BIOINF_KMB_FNS_UNIBA|20.5954739T>Crev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga07/05/1707/05/17151Genomicunknown
ss3352404110CSHL|rs236114rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/02/1710/02/17151Genomicunknown
ss3354135491TOPMED|TOPMed_freeze_5?chr20:5,954,739rev/C/Ttaccagtcatgtgccatcttaccaagtattcgaggtacttgtgattatga10/03/1710/03/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs236114|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 CAAACCCATG CAAGCCAAGG TTTTCTCAGG TGCATCTCTT AGTTCAGTTG CTATATCTGG
 TATCAAGTTA GTTACTTCAC CACCTTCTGT CAGTTCTTTA AAATCTACCA AAATACTTCC
 CTTTCTTTCT ATTTCATCCT ATAAAATATA AAAGTATGAA AACAATAATT GCTTTTCTGT
 AGTCAATTAC CATTAACTGA GCATTCTATT ATAGACTTTG AGAAAGCATA CAATGTTTAT
 ATGTGATAAT GGTAAGTATG ACATAAGTAT AAGCTTTGTG CCAAGCATGG TTCTGATATT
 TTAAATATAT TAATGTATTA CTGCCTCTTA ACAATCCTTT GAGGTAGGTA TTTATACCTC
 TATCTCCAAA TGAAAGAAAA CTGAGGCACA GAGAAGTAAT TAATCAAAGT CCATACTGCA
 GGTAAGTGGC AGAACTGAGG TCTGAACCAA GGAAGTCTGA CTCCAGTGCC TACGATCATA
 ATCACAAGTA CCTCGAATAC
 R
 TTGGTAAGAT GGCACATGAC TGGTAGCTTT GCTGTAGAGG AATCTTACCT TGTCATACAA
 ATCAATATGC CTTGTGAAAA ATTTTTCAAA TGCTTGAATC TTCTCAATCA AAGGAGAGCT
 ATCGCTGTAA ACTAATCCAA CAAATATGGC ATTAGCACAA ATAATCACAC AGGTACATGC
 ACATTTTTCA TGAGACAAAA GCAGCACTAT ATACATGGTA GATGATTTTT TTCTAATTGC
 TTTGTATTTT GATTACATTC ATATAAGAAC TAGTATAGAA TGTAAACTTA AGATTCTAAA
 ACAAATTTAG GTTTGCATAA TGTGAAATGC AGACAGAAAC TCTCTCTCTC TAAAAGCCCC
 ACTATCTGGG AAACTTTGTT TTGCATCTTT GACACCTAAT AGGACATGTT AGTTCAGATA
 ATTTAGACAA TAAGCTTAAA CTAAAAATTA TAATAAAGCC AAAGCCAGAC ACATAAACTA
 AGCTCTTACT CTGACAGAGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011387.8 ABBA01053893 AC027092 AL035461.11 AL390028.7
dbSNP Blast Analysis
OMIM
612885

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] Note: rs236114 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
ss117469936YRI 2IG 1.00000000 0.500000000.50000000
ss133063807ENSEMBL_Venter 2IG 1.00000000 1.00000000
ENSEMBL_celera 4IG 1.00000000 1.00000000
ss1363939629EAS 1008AF 0.002000000.99800003
EUR 1006AF 0.193800000.80619997
AFR 1322AF 0.073400000.92659998
AMR 694AF 0.144100000.85590005
SAS 978AF 0.193299990.80669999
ss138204256ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss167741852CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss168976266YRISub-Saharan African 2IG 1.00000000 1.00000000
ss1693899251ExAc_Aggregated_Populations121334AF 0.169268300.83073169
ss171860688PGP 2IG 1.00000000 1.00000000
ss228236806pilot_1_YRI_low_coverage_panel 118AF 0.042372880.95762712
ss237749136pilot_1_CEU_low_coverage_panel 120AF 0.200000000.80000001
ss243938578pilot_1_CHB+JPT_low_coverage_panel 120AF 1.00000000
ss66350092HapMap-CEUEuropean 118IG 0.355932210.644067820.371093000.177966100.82203388
HapMap-HCBAsian 90IG 0.022222220.977777781.000000000.011111110.98888886
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 120IG0.016666670.050000000.933333340.004998000.041666670.95833331
ss76061065ICMHP 10IG 1.00000000 1.00000000
ss8367098AfAmAfrican American 12IG 0.166666670.83333331 0.083333340.91666669
CaucasianEuropean 24IG0.250000000.250000000.500000000.150222000.375000000.62500000
AsianAsian 12IG 1.00000000 1.00000000
CEPHEuropean 10IG0.200000000.400000010.40000001 0.400000010.60000002
PDpanelGlobal 48IG 0.250000000.750000000.751830000.125000000.87500000
HapMap-CEUEuropean 226IG0.035398230.353982300.610619490.583882000.212389380.78761059
HapMap-HCBAsian 86IG 0.023255810.976744171.000000000.011627910.98837209
HapMap-JPTAsian 90IG 1.00000000 1.00000000
HapMap-YRISub-Saharan African 224IG0.008928570.071428570.919642870.099721000.044642860.95535713
HAPMAP-ASW 98IG 0.102040820.897959171.000000000.051020410.94897962
HAPMAP-CHBAsian 82IG 1.00000000 1.00000000
HAPMAP-GIH 176IG0.079545450.284090910.636363630.099721000.221590910.77840906
HAPMAP-LWK 178IG 0.078651690.921348331.000000000.039325840.96067417
HAPMAP-MEX 100IG0.020000000.280000000.699999991.000000000.160000000.83999997
HAPMAP-MKK 286IG0.013986010.090909090.895104890.050043000.059440560.94055945
HAPMAP-TSI 176IG0.034090910.261363630.704545440.654721000.164772730.83522725
ss96183686J. Craig Venter 2IG 1.00000000 1.00000000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict		Additional Freq. Data
0.276+/-0.2490000ALFRED: 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_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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