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Reference SNP (refSNP) Cluster Report: rs7337312                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/G (FWD)
Allele Origin:
Ancestral Allele:A
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.4299/2153 (1000 Genomes)
G=0.4378/54979 (TOPMED)
HGVS Names
  • CM000675.2:g.40779161G>A
  • NC_000013.10:g.41353297G>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 ss281688892 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7337312 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
ss11095499BCM_SSAHASNP|chr13.NT_024524.12_9927788byFreqfwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc07/01/0310/25/06116Genomicunknown
ss13301157SC_SNP|NT_024524.12_9927788fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc10/22/0310/31/03119Genomicunknown
ss21098371SSAHASNP|WGSA-200403-chr13.chr13.NT_024524.13_22333297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc03/19/0403/19/04121Genomicunknown
ss24655778PERLEGEN|afd4490786byFreqfwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc08/10/0409/13/04123Genomicunknown
ss43505544ABI|hCV2429349byFreqfwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc07/18/0511/03/06126Genomicunknown
ss75311212ILLUMINA|ILMN_Human_1M_rs7337312fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc08/28/0708/29/07129Genomicunknown
ss78313511HGSV|Cor12878_SNV_20070510.chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc10/17/0710/18/07129Genomicunknown
ss79770360HGSV|Cor18507_SNV_20070510.chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc11/23/0711/23/07130Genomicunknown
ss97152804HUMANGENOME_JCVI|1103649206419fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc03/28/0803/28/08130Genomicunknown
ss106330236BGI|BGI_rs7337312fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc09/15/0806/17/09130Genomicunknown
ss1127261691000GENOMES|CEU.trio.12.15.2008_2884418_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc12/18/0812/18/08130Genomicunknown
ss1146060371000GENOMES|NA19240_2008_12_16_2593253_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc12/18/0812/18/08130Genomicunknown
ss118437145ILLUMINA-UK|NA18507_000032784_NCBI36.1_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc01/21/0901/21/09130Genomic99 %
ss119552731KRIBB_YJKIM|KHS1714978fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc02/04/0902/05/09131Genomicunknown
ss123419021ILLUMINA|HumanCNV370v1_C_rs7337312fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc04/14/0904/15/09131Genomicunknown
ss137244827ENSEMBL|ENSSNP874588fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc12/08/0810/15/09131Genomicunknown
ss154421315ILLUMINA|Human610_Quadv1_B_rs7337312-127_B_R_1514289348rev/BC/Tggagactagcaaaggaggtggggctgatctgtggggtctcacaggccctgctaagagagt06/18/0906/20/09131Genomicunknown
ss154711446GMI|GMI_SNP_73826185fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc06/24/0906/24/09131Genomicunknown
ss160874815ILLUMINA|HumanOmni1-Quad_v1-0_B_rs7337312-128_B_R_1514289348rev/BC/Tggagactagcaaaggaggtggggctgatctgtggggtctcacaggccctgctaagagagt08/04/0910/04/09131Genomicunknown
ss167979592COMPLETE_GENOMICS|NA07022_36_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc09/30/0909/30/09132Genomicunknown
ss169365859COMPLETE_GENOMICS|NA19240_36_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc10/01/0910/01/09132Genomicunknown
ss171070780COMPLETE_GENOMICS|NA20431_36_chr13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc10/01/0910/01/09132Genomicunknown
ss172283143ILLUMINA|HumanCNV370-Quadv3_C_rs7337312-127_B_R_1514289348rev/BC/Tggagactagcaaaggaggtggggctgatctgtggggtctcacaggccctgctaagagagt10/01/0910/04/09132Genomicunknown
ss174349257ILLUMINA|Human1M-Duov3_B_rs7337312-127_B_R_1514289348rev/BC/Tggagactagcaaaggaggtggggctgatctgtggggtctcacaggccctgctaagagagt10/01/0910/04/09132Genomicunknown
ss199126833BUSHMAN|BUSHMAN-chr13-40251296fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc02/16/1003/06/10132Genomicunknown
ss208727429BCM-HGSC-SUB|BCM_CMT_1011-2539882fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc03/15/1003/20/10132Genomicunknown
ss2261508611000GENOMES|pilot_1_YRI_7960544_chr13_40251297fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc04/22/1004/22/10132Genomicunknown
ss2362276001000GENOMES|pilot_1_CEU_5832229_chr13_40251297fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc05/01/1005/01/10132Genomicunknown
ss2427278441000GENOMES|pilot_1_CHB+JPT_4612921_chr13_40251297fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc05/01/1005/01/10132Genomicunknown
ss254957341BL|SNP30759_13_40251297fwd/TA/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc08/19/1008/19/10134Genomicunknown
ss281688892GMI|GMI_AK_SNP_6009281fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc12/16/1012/16/10137Genomicunknown
ss286692668GMI|GMI_NA10851_SNP_2705459fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc12/17/1012/17/10138Genomicunknown
ss291585250PJP|SNP_1091608_chr13_40251297fwd/A/Gactctcttagcagggcctgtgagaccccacagatcagccccacctcctttgctagtctcc01/21/1101/21/11134Genomicunknown
ss481551706ILLUMINA|HumanOmni2.5-4v1_B_rs7337312-128_B_R_1731942290fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag01/30/1210/28/16137Genomicunknown
ss481580943ILLUMINA|HumanOmniExpress-12v1_C_rs7337312-131_B_R_1857267097fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag01/30/1210/27/16137Genomicunknown
ss482553512ILLUMINA|HumanOmni1-Quad_v1-0_C_rs7337312-131_B_R_1865702654fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag01/30/1208/28/15146Genomicunknown
ss485570841ILLUMINA|HumanOmni2.5-4v1_D_rs7337312-131_B_R_1857267097fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag01/30/1210/27/16137Genomicunknown
ss537466315ILLUMINA|HumanOmni5-4v1_B_rs7337312-131_B_R_1891367933fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag06/22/1208/29/15146Genomicunknown
ss563628762TISHKOFF|snp_chr13_41353297fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag11/22/1211/23/12138Genomicunknown
ss659228333SSMP|13_41353297fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag12/14/1202/13/15138Genomicunknown
ss778601680ILLUMINA|HumanOmni25Exome-8v1_A_rs7337312-131_B_R_1865702654fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/30/1307/10/15146Genomicunknown
ss783230981ILLUMINA|HumanOmni2.5-4v1_H_rs7337312-131_B_R_1857267097fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/30/1307/29/15146Genomicunknown
ss784185149ILLUMINA|HumanOmniExpressExome-8v1_A_rs7337312-131_B_R_1891367933fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/31/1306/18/15146Genomicunknown
ss825673463ILLUMINA|HumanCNV370v1_C_rs7337312-126_B_R_IFB1185524818:0fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag06/24/1311/21/14147Genomicunknown
ss832491395ILLUMINA|HumanOmniExpress-12v1_H_rs7337312-131_B_R_1857267097fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag09/17/1306/18/15146Genomicunknown
ss834058973ILLUMINA|HumanOmni2.5-8v1_A_rs7337312-131_B_R_1865702654fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag09/18/1307/29/15146Genomicunknown
ss990322950EVA-GONL|EVA-GONL_rs7337312fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag04/23/1404/25/14142Genomicunknown
ss1079035112JMKIDD_LAB|HGDP_WGS_chr13_41353297fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag07/10/1407/12/14142Genomicunknown
ss13479657311000GENOMES|PHASE3_V1_61057213fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag08/16/1408/16/14142Genomicunknown
ss1427169119DDI|DDI_rs7337312fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag11/04/1411/04/14144Genomicunknown
ss1576748979EVA_GENOME_DK|EVA_GENOME_DK_snv_rs7337312fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag02/19/1502/19/15144Genomicunknown
ss1630144464EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_13_41353297_33789640fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag03/04/1503/04/15144Genomicunknown
ss1673138497EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_13_41353297_33789640fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag03/04/1503/04/15144Genomicunknown
ss1684843803EVA_DECODE|EVA_DECODE_13_40251297_181931_rs7337312fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag03/02/1503/04/15144Genomicunknown
ss1713386227EVA_SVP|EVA_SVP_1080594fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag03/12/1503/12/15144Genomicunknown
ss1752104028ILLUMINA|OmniExpressExome-8v1-1_B_rs7337312-131_B_R_1891367933fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/27/1506/09/15146Genomicunknown
ss1807582290HAMMER_LAB|Hsieh_6604915fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag07/15/1507/16/15146Genomicunknown
ss1933691190WEILL_CORNELL_DGM|SNV:chr13:41353297fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag10/16/1510/17/15147Genomicunknown
ss1967767424GENOMED|rs7337312fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag02/16/1602/16/16147Genomicunknown
ss2027604246JJLAB|SNP8106801fwd/TA/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag08/29/1608/31/16149Genomicunknown
ss2155969421USC_VALOUEV|NC_000013.10:g.41353297G>Afwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag11/17/1611/17/16150Genomicunknown
ss2359923159TOPMED|13_41353297_G/Afwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag11/19/1611/19/16150Genomicunknown
ss2628291893SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV5165756fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag01/06/1701/06/17151Genomicunknown
ss2633056165ILLUMINA|SoL_HCHS_Custom_15041502_B3_RefStrand_rs7337312-131_B_R_18913679fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag02/02/1702/02/17151Genomicunknown
ss2700344761GRF|rs7337312fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag02/13/1702/13/17151Genomicunknown
ss2918911021GNOMAD|rs7337312fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/23/1705/23/17151Genomicunknown
ss2985002270AFFY|Axiom_PsorMich_Affx-9333970fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/24/1705/24/17151Genomicunknown
ss2985637894AFFY|Axiom_Smokesc1_Affx-9333970fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/24/1705/24/17151Genomicunknown
ss3010914193SWEGEN|NC_000013.10:g.41353297G>Afwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag05/30/1705/30/17151Genomicunknown
ss3027619282BIOINF_KMB_FNS_UNIBA|13.40779161G>Afwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag07/05/1707/05/17151Genomicunknown
ss3190993788TOPMED|TOPMed_freeze_5?chr13:40,779,161fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag09/30/1709/30/17151Genomicunknown
ss3350424823CSHL|rs7337312fwd/A/Gcttagcagggcctgtgagaccccacagatcagccccacctcctttgctag10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7337312|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=151
 GCCCAGGTTG GAGGGCAGTG GCACAATCTC GGCTCACTGC AACCTCGACC TCCTGGGTTC
 AAGCGATTCT TCTGCCTCAG CCTCCAGAGT AGCTGGTACT ATAGGTGTGC GCCACCACAC
 CCGGCTAATT TTTTTTTGTA TTTTTAGTAG AGACGGGGGT TTCACCATAT TGGCCAGGCT
 GGTCTCGTAC TCCTGACCTC AAGAGATCCA CCTGCCTCAG CCTCCCAAAG TGCTGGGATT
 ACAGGTGTGA GCCATTGCAT CCGGCCCATT CTTCTCTTTT TAAGATGAGA AATTTGAGGC
 TTACAGGAGC TTCTTACCAT CGCAAAGTCA TCAGGTGGGA GAGCCAGCTT TTGGGGACTG
 GTCAGTCGAC CCAGAGTCCA TGCTGTCAAC CTCCACCACA CAGCCACGTT CACATCATGA
 TGTCTGCATC ACTCAGCAGC TCCCTCTACC ATCTTCTAAA GAAACTCTAC ACTCTCTTAG
 CAGGGCCTGT GAGACCCCAC
 R
 AGATCAGCCC CACCTCCTTT GCTAGTCTCC TTCCTGTTAC TTCTCCTCCT ACCCTGACCA
 GAGCCCCTGT AGCTCCCGGA CACGGGACAT GGTCATGGCT TCCCCACCTC CTTGCAATCT
 TATGGTGTGT TCCCTCCTTC TGCCCTGCCT AACTCCTCCT CCTGCTTCAA GGCTCAGCTC
 TTGCCCCCTC CAGACCCTTT CCTGGTGCTC TGGGTGCCCA TGCACTGCTG CTCCCAGCTC
 CTTGTGCCTG GCTCTGTGAT TCTTAGTGAA TGGAATGAGG TGTGGCTTTT CATCTCCAAA
 TTTCCAGTGC TTAATTGGAA CAGAGAGGTT GGCAAAATAC TTTGAATGAT GGTGCATTTG
 GGAGTTGGCC ATGTTTTACA ACTTTAGGCA CAGTGACGAA AAGAATACTA TTGTAAATAA
 GAGGGTTAGG GCTGGGCACA GTGGCTCATA CCTGTAATCT CAGCACTTTG GGAGGCTGAG
 ATGGGAGGAT CATTTGAGGC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024524 ABBA01021290
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.
SourceA/A
A/G
G/G
HWPA
G
ss11095499HapMap-CEUEuropean 216IG0.259259250.546296300.194444450.317310000.532407400.46759260
HapMap-HCBAsian 84IG0.285714300.476190480.238095241.000000000.523809550.47619048
HapMap-JPTAsian 170IG0.317647070.541176500.141176480.294266000.588235320.41176471
HapMap-YRISub-Saharan African 216IG0.472222210.490740750.037037040.050043000.717592600.28240740
HAPMAP-ASW 96IG0.270833340.541666690.187500000.583882000.541666690.45833334
HAPMAP-CHBAsian 78IG0.307692320.564102590.128205140.317310000.589743610.41025642
HAPMAP-CHD 162IG0.308641970.592592600.098765430.050043000.604938270.39506173
HAPMAP-GIH 174IG0.287356320.471264360.241379310.654721000.522988500.47701150
HAPMAP-LWK 180IG0.555555580.422222230.022222220.099721000.766666650.23333333
HAPMAP-MKK 274IG0.401459840.503649650.094890510.200325000.653284670.34671533
HAPMAP-TSI 168IG0.297619040.547619040.154761910.294266000.571428600.42857143
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss118437145YRI 2IG1.00000000 1.00000000
ss1347965731EAS 1008AF 0.592300000.40770000
EUR 1006AF 0.555700000.44430000
AFR 1322AF 0.637700020.36230001
AMR 694AF 0.577799980.42219999
SAS 978AF 0.465200010.53480005
ss137244827ENSEMBL_Venter 2IG 1.00000000 0.500000000.50000000
ss167979592CEUEuropean 2IG 1.00000000 0.500000000.50000000
ss169365859YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss171070780PGP 2IG 1.00000000 0.500000000.50000000
ss199126833BANTU 2IG 1.00000000 0.500000000.50000000
ss226150861pilot_1_YRI_low_coverage_panel 118AF 0.754237290.24576271
ss236227600pilot_1_CEU_low_coverage_panel 120AF 0.483333320.51666665
ss242727844pilot_1_CHB+JPT_low_coverage_panel 120AF 0.550000010.44999999
ss24655778AFD_EUR_PANELEuropean 48IG0.333333340.416666660.250000000.438578000.541666690.45833334
AFD_AFR_PANELAfrican American 46IG0.173913050.565217380.260869560.527089000.456521750.54347825
AFD_CHN_PANELAsian 48IG0.541666690.291666660.166666670.150222000.687500000.31250000
ss43505544AoD_African_American 90AF 0.529999970.47000000
ss97152804J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.490+/-0.0690000

  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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