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Reference SNP (refSNP) Cluster Report: rs7702057                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Citation:PubMedLitVarNEW
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.1827/915 (1000 Genomes)
T=0.1424/17883 (TOPMED)
HGVS Names
  • CM000667.2:g.116392141G>A
  • CM000667.2:g.116392141G>T
  • NC_000005.10:g.116392141G>A
  • NC_000005.10:g.116392141G>T
  • NC_000005.9:g.115727838G>T
  • XR_001742095.1:n.6342-7341G>A
  • XR_001742095.1:n.6342-7341G>T
  • XR_001742096.1:n.6346-7341G>A
  • XR_001742096.1:n.6346-7341G>T
  • XR_001742099.1:n.6261-7341G>A
  • XR_001742099.1:n.6261-7341G>T
  • XR_246568.1:n.241-7341G>T
  • XR_948270.2:n.1034-7341G>A
  • XR_948270.2:n.1034-7341G>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 ss278442645 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7702057 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
ss11698997WI_SSAHASNP|chr5.NT_034772.4_18142859byFreqfwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg07/03/0310/25/06116Genomicunknown
ss14675188WI_SSAHASNP|chr5.NT_034772.5_18142851fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg11/05/0311/22/03119Genomicunknown
ss23443890PERLEGEN|afd3592662byFreqfwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg08/10/0409/13/04123Genomicunknown
ss66818965ILLUMINA|HumanHap300v1.1_rs7702057fwd/TG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg11/09/0611/09/06127Genomicunknown
ss67819862ILLUMINA|HumanHap550v1.1_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg11/14/0611/14/06127Genomicunknown
ss67984368ILLUMINA|HumanHap650Yv1.0_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg11/14/0611/15/06127Genomicunknown
ss70944402ILLUMINA|HumanHap550v3.0__rs7702057rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga04/20/0703/31/08130Genomicunknown
ss71548891ILLUMINA|HumanHap650Yv3.0_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg04/23/0704/23/07127Genomicunknown
ss75812013ILLUMINA|ILMN_Human_1M_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg08/28/0708/29/07129Genomicunknown
ss79267041ILLUMINA|HumanHap300v2.0_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg04/18/0711/18/07130Genomicunknown
ss84709068KRIBB_YJKIM|KHS786276fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg12/04/0712/07/07130Genomicunknown
ss104230898BGI|BGI_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg06/08/0806/18/09131Genomicunknown
ss1131132941000GENOMES|NA19240_2008_12_16_1205565_chr5_115755737fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg12/18/0812/18/08130Genomicunknown
ss122816629ILLUMINA|HumanCNV370v1_C_rs7702057fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg04/14/0904/15/09131Genomicunknown
ss154441472ILLUMINA|Human610_Quadv1_B_rs7702057-127_T_R_1501854584rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga06/18/0906/20/09131Genomicunknown
ss159616407ILLUMINA|Human660W-Quad_v1_A_rs7702057-128_T_R_1501854584rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga07/06/0907/07/09131Genomicunknown
ss160905296ILLUMINA|HumanOmni1-Quad_v1-0_B_rs7702057-128_T_R_1501854584rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga08/04/0910/05/09131Genomicunknown
ss165762867COMPLETE_GENOMICS|NA19240_36_chr5_115755737fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg09/29/0909/30/09132Genomicunknown
ss172334302ILLUMINA|HumanCNV370-Quadv3_C_rs7702057-127_T_R_1501854584rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga10/01/0910/04/09132Genomicunknown
ss174503288ILLUMINA|Human1M-Duov3_B_rs7702057-127_T_R_1501854584rev/TA/Ccagtctatggtctgtaatagcagactgagcgactaagacagcaactgacatgtgttaaga10/01/0910/04/09132Genomicunknown
ss200731180BUSHMAN|BUSHMAN-chr5-115755736byFreqfwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg02/16/1009/05/14132Genomicunknown
ss2219040861000GENOMES|pilot_1_YRI_3713769_chr5_115755737fwd/G/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg04/22/1004/22/10132Genomicunknown
ss2331059851000GENOMES|pilot_1_CEU_2710614_chr5_115755737fwd/G/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg05/01/1005/01/10132Genomicunknown
ss278442645GMI|GMI_AK_SNP_2762884fwd/G/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg12/16/1012/16/10137Genomicunknown
ss293441380PJP|SNP_2947738_chr5_115755737fwd/G/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg01/21/1101/21/11134Genomicunknown
ss481647709ILLUMINA|HumanOmni2.5-4v1_B_rs7702057-128_T_R_1772928709fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata01/30/1210/28/16137Genomicunknown
ss481678219ILLUMINA|HumanOmniExpress-12v1_C_rs7702057-131_T_R_1857357705fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata01/30/1210/27/16137Genomicunknown
ss482644785ILLUMINA|HumanOmni1-Quad_v1-0_C_rs7702057-131_T_R_1865311667fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata01/30/1208/28/15146Genomicunknown
ss485618560ILLUMINA|HumanOmni2.5-4v1_D_rs7702057-131_T_R_1857357705fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata01/30/1210/28/16137Genomicunknown
ss491369877EXOME_CHIP|.GWAS._86104_chr_5_115727838fwd/BG/Ttcttaacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccatagactg03/05/1203/05/12137Genomicunknown
ss537503290ILLUMINA|HumanOmni5-4v1_B_rs7702057-131_T_R_1885473749fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata06/22/1208/29/15146Genomicunknown
ss652536535SSMP|5_115727838fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata12/14/1202/11/15138Genomicunknown
ss778612109ILLUMINA|HumanOmni25Exome-8v1_A_rs7702057-131_T_R_1865311667fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/30/1307/09/15146Genomicunknown
ss780686713ILLUMINA|HumanOmni25Exome-8v1_A_exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/30/1307/09/15146Genomicunknown
ss783254890ILLUMINA|HumanOmni2.5-4v1_H_rs7702057-131_T_R_1857357705fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/30/1307/28/15146Genomicunknown
ss783360245ILLUMINA|HumanOmniExpressExome-8v1_A_exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/31/1306/19/15146Genomicunknown
ss784208427ILLUMINA|HumanOmniExpressExome-8v1_A_rs7702057-131_T_R_1885473749fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/31/1306/19/15146Genomicunknown
ss825597559ILLUMINA|HumanCNV370v1_C_rs7702057-123_T_R_IFB1137364990:0fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata06/24/1311/21/14144Genomicunknown
ss832515713ILLUMINA|HumanOmniExpress-12v1_H_rs7702057-131_T_R_1857357705fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata09/17/1306/18/15146Genomicunknown
ss834069522ILLUMINA|HumanOmni2.5-8v1_A_rs7702057-131_T_R_1865311667fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata09/18/1307/28/15146Genomicunknown
ss982005217EVA-GONL|EVA-GONL_rs7702057fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata04/23/1404/24/14142Genomicunknown
ss1072954512JMKIDD_LAB|HGDP_WGS_chr5_115727838fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata07/10/1407/11/14142Genomicunknown
ss13167673961000GENOMES|PHASE3_V1_28578181fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata08/16/1408/16/14142Genomicunknown
ss1397424538HAMMER_LAB|HAMMER_LAB_rs7702057fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata09/30/1409/30/14146Genomicunknown
ss1581305846EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7702057fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata02/19/1502/20/15144Genomicunknown
ss1591528183EVA_DECODE|EVA_DECODE_5_115755737_858885_rs7702057fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata03/02/1503/03/15144Genomicunknown
ss1613772523EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_115727838_15810222fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata03/04/1503/04/15144Genomicunknown
ss1656766556EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_115727838_15810222fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata03/04/1503/04/15144Genomicunknown
ss1712792525EVA_SVP|EVA_SVP_486892fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata03/12/1503/12/15144Genomicunknown
ss1752543839ILLUMINA|OmniExpressExome-8v1-1_B_exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/27/1506/09/15146Genomicunknown
ss1752543840ILLUMINA|OmniExpressExome-8v1-1_B_rs7702057-131_T_R_2032683049fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/27/1506/09/15146Genomicunknown
ss1917792926ILLUMINA|HumanExome-12v1-1_B_exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata10/16/1510/16/15147Genomicunknown
ss1925260784WEILL_CORNELL_DGM|SNV:chr5:115727838fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata10/16/1510/17/15147Genomicunknown
ss1946152755ILLUMINA|HumanCoreExome-12v1-0_C_exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata10/29/1510/29/15147Genomicunknown
ss1958814981ILLUMINA|exm-rs7702057-131_T_R_1990494111fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata11/13/1511/13/15147Genomicunknown
ss2023236839JJLAB|SNP3739394fwd/BG/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata08/29/1608/30/16149Genomicunknown
ss2277206491HUMAN_LONGEVITY|HLI-5-116392141-G-Tfwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata11/18/1611/18/16150Genomicunknown
ss2445497477TOPMED|5_115727838_G/Tfwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata11/20/1611/20/16150Genomicunknown
ss2634326781ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs7702057-131_T_R_20326830fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata02/02/1702/02/17151Genomicunknown
ss2706951986GRF|rs7702057fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata02/13/1702/13/17151Genomicunknown
ss2829489228GNOMAD|rs7702057fwd/A/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/18/1705/18/17151Genomicunknown
ss2985331923AFFY|Axiom_PsorMich_Affx-25437415fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/24/1705/24/17151Genomicunknown
ss2997614533SWEGEN|NC_000005.9:g.115727838G>Tfwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata05/30/1705/30/17151Genomicunknown
ss3022520689ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm-rs7702057-131_T_R_1990494111fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata06/28/1706/28/17151Genomicunknown
ss3346577166CSHL|rs7702057fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata10/02/1710/02/17151Genomicunknown
ss3475712259TOPMED|TOPMed_freeze_5?chr5:116,392,141fwd/G/Tacacatgtcagttgctgtcttagtcgctcagtctgctattacagaccata10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7702057|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G/T'|mol=Genomic|build=151
 TGCCTTTAAA ACAACTTGAT AATATGGCAA ACAACTTTCC ATATCAATAA ATGTATTTCT
 TATCCATTGC TCTCAGCCTC CAAATTTAAA AATTTATTTT AATTTTTGAC CAAGAGAAGC
 TGATATAATG AATATCCTTG CACAAATTCT TTGTACAGAC TCTTAATTCT TTCTTTAGGA
 TAAGTCCTGA AAGGTAGATT TACCCACTGG GTTGAAAGTC TGCACATGAT AGCAAATACA
 GAGCATACCC CAATTTGTAC TCTTACCAGC AGTGTATGAT GGTGCCCCTT TGCCAATTAG
 CATTGGCTTT TATCTTTTTA TCTAATCTTG CCAACTTGTA TTTTTTAACT TTCTTTGTAT
 GTGTGTAGGA ACTTATACAT TTTCTCATTT TTTTTCTGCA ACATGCTTAA TATTGTCCAT
 TTCAAGGAGG GTATTTGTTA TTTTCTTGTA GATTTGTAAG ATCTCTTTAT TCTTAACACA
 TGTCAGTTGC TGTCTTAGTC
 D
 GCTCAGTCTG CTATTACAGA CCATAGACTG GTCTATGGTT TAAATTATAA GCCATATACT
 AGGTGGCTTA TAAACAGTAG AAATATATAT ATTTATATTT ATTTTAAATG TTAAGTATAT
 AGATTTTAAA AAACATATAT ACACACACAC ACACACACAC ACACACACAC ACACACACAC
 ACACACACAC ACACACACAC ACACTCTCTC ACATTCTGGA GGCTGGGAAG TCCAAGAAGA
 AGGTGCTGGC AGATTGCTGT CTGGTGAAGG CCCACTTCCT GGTTCATGGG CAGCTGTCTT
 CTCCCTTGGT GGAAGGAATG AAGCAGCTCT CTGGGTTTCT TTTATAAGGG CACCAATCCC
 ATTCATGAGG ACACCACCCT CATGACCTAA TCACCTCCTA AACGTCCCAC CTCCTAATAC
 CATCACACTG GGGGTTAGGA TTTCAACATG AAATTTGGGG GATATAACAT TCAGTCTATA
 GTAGTTGCCC AGTTTAGCAC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_034772
dbSNP Blast Analysis

  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.
SourceG/G
G/T
T/T
HWPG
T
ss11698997HapMap-CEUEuropean 226IG0.893805330.088495570.017699110.020022000.938053070.06194690
HapMap-HCBAsian 86IG0.697674390.255813960.046511630.479500000.825581370.17441860
HapMap-JPTAsian 172IG0.906976760.09302326 1.000000000.953488350.04651163
HapMap-YRISub-Saharan African 226IG0.247787610.592920360.159292040.050043000.544247810.45575222
HAPMAP-ASW 98IG0.408163280.448979590.142857151.000000000.632653060.36734694
HAPMAP-CHBAsian 82IG0.780487780.21951219 0.751830000.890243890.10975610
HAPMAP-CHD 166IG0.650602400.325301200.024096380.527089000.813252990.18674698
HAPMAP-GIH 176IG0.829545440.159090910.011363640.751830000.909090940.09090909
HAPMAP-LWK 180IG0.200000000.588888880.211111110.099721000.494444430.50555557
HAPMAP-MEX 100IG0.959999980.04000000 1.000000000.980000020.02000000
HAPMAP-MKK 284IG0.359154940.471830990.169014081.000000000.595070420.40492958
HAPMAP-TSI 176IG0.897727250.10227273 1.000000000.948863630.05113636
ENSEMBL_Watson 2IG1.00000000 1.00000000
ss1316767396EAS 1008AF 0.857100010.14290000
EUR 1006AF 0.950299980.04970000
AFR 1322AF 0.571900010.42809999
AMR 694AF 0.956800040.04320000
SAS 978AF 0.872200010.12780000
ss165762867YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss200731180BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
BANTU 2IG 1.00000000 0.500000000.50000000
ss221904086pilot_1_YRI_low_coverage_panel 118AF 0.423728820.57627118
ss233105985pilot_1_CEU_low_coverage_panel 120AF 0.933333340.06666667
ss23443890AFD_EUR_PANELEuropean 48IG0.833333310.16666667 1.000000000.916666690.08333334
AFD_AFR_PANELAfrican American 46IG0.391304340.478260870.130434781.000000000.630434810.36956522
AFD_CHN_PANELAsian 48IG0.708333310.29166666 0.751830000.854166690.14583333

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
Additional Freq. Data
0.299+/-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_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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