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Reference SNP (refSNP) Cluster Report: rs6920220                 **Clinical Channel**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:G
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.0944/473 (1000 Genomes)
A=0.1541/19346 (TOPMED)
HGVS Names
  • CM000668.2:g.137685367G>A
  • NC_000006.11:g.138006504G>A
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 ss120255356 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6920220 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
ss10308420BCM_SSAHASNP|chr6.NT_025741.12_42110933byFreqfwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc06/29/0310/25/06116Genomicunknown
ss24419251PERLEGEN|afd1534414byFreqfwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc08/10/0409/13/04123Genomicunknown
ss66121811AFFY|SNP_A-2043918byFreqfwd/TA/Gaacttctccactaaaagatatggttctgtaga10/27/0603/31/08127Genomicunknown
ss76116009AFFY|AFFY_6_1M_SNP_A-2043918fwd/TA/Gaacttctccactaaaagatatggttctgtaga08/28/0708/30/07130Genomicunknown
ss82349052KRIBB_YJKIM|KHS233011fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc11/30/0712/02/07130Genomicunknown
ss85817618HGSV|Cor18517_SNV_20070510.chr6_138048197fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc12/06/0712/10/07130Genomicunknown
ss93567825BCMHGSC_JDW|JWB-2224831byFreqfwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc02/26/0809/05/14129Genomicunknown
ss1109886131000GENOMES|CEU.trio.12.15.2008_1632654_chr6_138048197fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc12/17/0812/17/08130Genomicunknown
ss1151855401000GENOMES|NA19240_2008_12_16_1466278_chr6_138048197fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc12/19/0812/19/08130Genomicunknown
ss120255356WTCCC|NT_025741.14_42110933_CEPHfwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc04/10/0904/10/09131Genomicunknown
ss144329480ENSEMBL|ENSSNP13148403fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc06/05/0906/06/09131Genomicunknown
ss160825391ILLUMINA|HumanOmni1-Quad_v1-0_B_rs6920220-128_B_R_1567155516rev/BC/Tgcatatgccattgttctacagaaccatatcttttagtggagaagttacctgctaacagat08/04/0910/04/09131Genomicunknown
ss162852302COMPLETE_GENOMICS|NA07022_36_chr6_138048197fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc09/28/0909/29/09132Genomicunknown
ss164686928COMPLETE_GENOMICS|NA19240_36_chr6_138048197fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc09/29/0909/30/09132Genomicunknown
ss172553462AFFY|GenomeWideSNP_5_SNP_A-2043918fwd/TA/Gaacttctccactaaaagatatggttctgtaga10/01/0910/02/09132Genomicunknown
ss2227061971000GENOMES|pilot_1_YRI_4515880_chr6_138048197fwd/A/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc04/22/1004/22/10132Genomicunknown
ss2337051201000GENOMES|pilot_1_CEU_3309749_chr6_138048197fwd/A/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc05/01/1005/01/10132Genomicunknown
ss244307055ILLUMINA|CVDSNP55v1_A_rs6920220rev/BC/Tgcatatgccattgttctacagaaccatatcttttagtggagaagttacctgctaacagat06/10/1006/10/10132Genomicunknown
ss293734812PJP|SNP_3241170_chr6_138048197fwd/A/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc01/21/1101/21/11134Genomicunknown
ss410944946ILLUMINA|Cardio-Metabo_Chip_11395247_A_rs6920220rev/BC/Tgcatatgccattgttctacagaaccatatcttttagtggagaagttacctgctaacagat06/07/1106/07/11135Genomicunknown
ss481400193ILLUMINA|HumanOmni2.5-4v1_B_rs6920220-128_B_R_1616888666fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca01/30/1210/28/16137Genomicunknown
ss481426773ILLUMINA|HumanOmniExpress-12v1_C_rs6920220-131_B_R_1858005161fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca01/30/1210/27/16137Genomicunknown
ss482405951ILLUMINA|HumanOmni1-Quad_v1-0_C_rs6920220-131_B_R_1865497828fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca01/30/1208/28/15146Genomicunknown
ss485495064ILLUMINA|HumanOmni2.5-4v1_D_rs6920220-131_B_R_1858005161fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca01/30/1210/28/16137Genomicunknown
ss491392260EXOME_CHIP|.GWAS._108486_chr_6_138006504fwd/TA/Gatctgttagcaggtaacttctccactaaaagatatggttctgtagaacaatggcatatgc03/05/1203/05/12137Genomicunknown
ss537410308ILLUMINA|HumanOmni5-4v1_B_rs6920220-131_B_R_1911654469fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca06/22/1208/29/15146Genomicunknown
ss559561001TISHKOFF|snp_chr6_138006504fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/22/1211/23/12138Genomicunknown
ss778585428ILLUMINA|HumanOmni25Exome-8v1_A_rs6920220-131_B_R_1865497828fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/30/1307/09/15146Genomicunknown
ss780686171ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/30/1307/09/15146Genomicunknown
ss783193067ILLUMINA|HumanOmni2.5-4v1_H_rs6920220-131_B_R_1858005161fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/30/1307/28/15146Genomicunknown
ss783359679ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/31/1306/19/15146Genomicunknown
ss784148173ILLUMINA|HumanOmniExpressExome-8v1_A_rs6920220-131_B_R_1911654469fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/31/1306/19/15146Genomicunknown
ss832452912ILLUMINA|HumanOmniExpress-12v1_H_rs6920220-131_B_R_1858005161fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/17/1306/18/15146Genomicunknown
ss834042574ILLUMINA|HumanOmni2.5-8v1_A_rs6920220-131_B_R_1865497828fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/18/1307/28/15146Genomicunknown
ss983559867EVA-GONL|EVA-GONL_rs6920220fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca04/23/1404/24/14142Genomicunknown
ss1074078876JMKIDD_LAB|HGDP_WGS_chr6_138006504fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca07/10/1407/11/14142Genomicunknown
ss13225031971000GENOMES|PHASE3_V1_34561777fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca08/16/1408/16/14142Genomicunknown
ss1397472762HAMMER_LAB|HAMMER_LAB_rs6920220fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/30/1409/30/14146Genomicunknown
ss1430910969DDI|DDI_rs6920220fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/04/1411/05/14144Genomicunknown
ss1581918979EVA_GENOME_DK|EVA_GENOME_DK_snv_rs6920220fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca02/19/1502/20/15144Genomicunknown
ss1593131818EVA_DECODE|EVA_DECODE_6_138048197_1095866_rs6920220fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca03/02/1503/03/15144Genomicunknown
ss1616821528EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_6_138006504_19165196fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca03/04/1503/04/15144Genomicunknown
ss1659815561EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_6_138006504_19165196fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca03/04/1503/04/15144Genomicunknown
ss1712904255EVA_SVP|EVA_SVP_598622fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca03/12/1503/12/15144Genomicunknown
ss1752604095ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/27/1506/09/15146Genomicunknown
ss1752604096ILLUMINA|OmniExpressExome-8v1-1_B_rs6920220-131_B_R_1911654469fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/27/1506/09/15146Genomicunknown
ss1917811224ILLUMINA|HumanExome-12v1-1_B_exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/16/1510/16/15147Genomicunknown
ss1926805850WEILL_CORNELL_DGM|SNV:chr6:138006504fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/16/1510/17/15147Genomicunknown
ss1946192687ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/29/1510/29/15147Genomicunknown
ss1946192688ILLUMINA|HumanCoreExome-12v1-0_C_rs6920220-131_B_R_1911654469fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/29/1510/29/15147Genomicunknown
ss1958954726ILLUMINA|exm-rs6920220-131_B_R_1990484607fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/13/1511/13/15147Genomicunknown
ss1958954727ILLUMINA|rs6920220-131_B_R_1894988900fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/13/1511/13/15147Genomicunknown
ss2024060376JJLAB|SNP4562931fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca08/29/1608/30/16149Genomicunknown
ss2094966013ILLUMINA|Immuno_BeadChip_11419691_B_imm_6_138048197-1_B_R_1670196579fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/27/1609/27/16150Genomicunknown
ss2095190644ILLUMINA|InfiniumImmunoArray-24v2-0_A_imm_6_138048197-1_B_R_2310739751fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/27/1609/27/16150Genomicunknown
ss2095190645ILLUMINA|InfiniumImmunoArray-24v2-0_A_rs6920220-138_B_R_2264333625fwd/TA/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca09/27/1609/27/16150Genomicunknown
ss2152253356USC_VALOUEV|NC_000006.11:g.138006504G>Afwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/17/1611/17/16150Genomicunknown
ss2288876753HUMAN_LONGEVITY|HLI-6-137685367-G-Afwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/18/1611/18/16150Genomicunknown
ss2457551415TOPMED|6_138006504_G/Afwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca11/20/1611/20/16150Genomicunknown
ss2634518123ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs6920220-131_B_R_19116544fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca02/02/1702/02/17151Genomicunknown
ss2711091719ILLUMINA|Consortium-OncoArray_15047405_A_rs6920220-131_B_R_1911654469fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca03/22/1703/22/17151Genomicunknown
ss2845780562GNOMAD|rs6920220fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/18/1705/18/17151Genomicunknown
ss2985386505AFFY|Axiom_PsorMich_Affx-27786750fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/24/1705/24/17151Genomicunknown
ss2986014567AFFY|Axiom_Smokesc1_Affx-27786750fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/24/1705/24/17151Genomicunknown
ss3000041224SWEGEN|NC_000006.11:g.138006504G>Afwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca05/30/1705/30/17151Genomicunknown
ss3022671600ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs6920220-131_B_R_1990484607fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca06/28/1706/28/17151Genomicunknown
ss3022671601ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs6920220-138_B_R_2264333625fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca06/28/1706/28/17151Genomicunknown
ss3025822115BIOINF_KMB_FNS_UNIBA|6.137685367G>Afwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca07/05/1707/05/17151Genomicunknown
ss3347253332CSHL|rs6920220fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/02/1710/02/17151Genomicunknown
ss3513400027TOPMED|TOPMed_freeze_5?chr6:137,685,367fwd/A/Gttagcaggtaacttctccactaaaagatatggttctgtagaacaatggca10/05/1710/07/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6920220|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 TGCTTTAGTC TGTCTCTTCC TGTACATAGA TTTTTTTTCT ACTTCTTTGG TTCATGGGGA
 TAGAATTTTC ATGTCATAAT TTCAGCTACC TGCAGAGAGT GAACTTCATT TAAAATTTCT
 TTGTGAGGAC AGTTGAAACT GTTAGCTCAG GCTAATCTAA AAGACGCAAT TTAGAAACGA
 CTGTCAAAAG AAAAATAACT TAAGATTTTC AGTTCATCAC TCAATGTTCA TCCTGAAGAT
 TTCTCAAAGA CTGCTACCTA CCTCCCTGTT TTTCTTCGAC TTTTTTTGTA GCAAGGTTTT
 GAGACATTGC TACGGCAGCG TAACATAGTA GGTGAAGTAC CCATTGATAA ATTATATTTT
 ATCTGCTTCC ATCTGTTAGC AGGTAACTTC TCCACTAAAA
 R
 GATATGGTTC TGTAGAACAA TGGCATATGC AGACAGTGAT CTGTTATTCC ACTATTCTCT
 TAAGCTATCA ATCAGATTGA TGAGGCAAAT TTATGCTTCT AGTCTGTATC TGTGGTTATA
 ACCACGTAAC ATTTGCTTTA GATTGTTTGT AGGGAAAGTC AAAGTAGGAT GGTTTGTTGG
 AGGTAAAATG GCCTAAGAAA TAAATCAAAG CATTTCAATT ATGATGTATA AGAAAATTTA
 GAGTTGGTTT GTACAAACCC ATATCCAATC AAGGTCCAAG CATTATATTT AATGGTTAAG
 CCTTTTAAAT CTCTTTGATT ACAGAGCAGC TCATCACTCT CCTTCCTCCC ATCCCACCCT
 TATTATACCA TGGGTTTATT GAAGATACTA AGTCACTAAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_025741.14
dbSNP Blast Analysis
OMIM
180300
612378

  Population Diversity (Alleles in RefSNP orientation) . See additional population frequency from 1000Genome [here] back to top

Sample AscertainmentGenotype DetailAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss1322503197EAS 1008AF 0.004000000.99599999
EUR 1006AF 0.169000010.83100003
AFR 1322AF 0.099099990.90089995
AMR 694AF 0.103700000.89630002
SAS 978AF 0.098199990.90179998
ss144329480ENSEMBL_Watson 2IG 1.00000000 0.500000000.50000000
ss162852302CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss164686928YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss222706197pilot_1_YRI_low_coverage_panel 118AF 0.110169490.88983053
ss233705120pilot_1_CEU_low_coverage_panel 120AF 0.158333330.84166664
ss24419251AFD_EUR_PANELEuropean 48IG0.125000000.250000000.625000000.150222000.250000000.75000000
AFD_AFR_PANELAfrican American 46IG 0.086956520.913043501.000000000.043478260.95652175
AFD_CHN_PANELAsian 48IG 1.00000000 1.00000000
ss66121811HapMap-CEUEuropean 118IG 0.355932210.644067820.371093000.177966100.82203388
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 90IG 0.022222220.977777781.000000000.011111110.98888886
HapMap-YRISub-Saharan African 120IG 0.233333330.766666650.654721000.116666670.88333333
ss76116009ICMHP 8IG 0.250000000.75000000 0.125000000.87500000
ss93567825HapMap-CEUEuropean 224IG0.026785710.276785700.696428601.000000000.165178570.83482140
HapMap-HCBAsian 90IG 1.00000000 1.00000000
HapMap-JPTAsian 172IG 0.011627910.988372091.000000000.005813950.99418604
HapMap-YRISub-Saharan African 226IG0.008849560.221238940.769911530.583882000.119469020.88053095
HAPMAP-ASW 98IG0.040816330.224489790.734693880.371093000.153061230.84693879
HAPMAP-GIH 174IG 0.172413800.827586230.751830000.086206900.91379309
HAPMAP-LWK 180IG 0.188888890.811111090.751830000.094444450.90555555
HAPMAP-MEX 100IG0.020000000.140000000.839999970.317310000.090000000.91000003
HAPMAP-MKK 286IG0.013986010.244755240.741258740.654721000.136363640.86363637
HAPMAP-TSI 174IG 0.298850570.701149400.402784000.149425280.85057473

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.171+/-0.2370000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

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