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dbSNP
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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained. Please update your links and bookmarks to use the re-designed RefSNP Report page.
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Reference SNP (refSNP) Cluster Report: rs10045497                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqWith1000GenomeData
Association:NHGRI GWAS
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:A/C (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:A=0.3956/1981 (1000 Genomes)
A=0.3450/43318 (TOPMED)
HGVS Names
  • CM000667.2:g.75340659C>A
  • NC_000005.10:g.75340659C>A
  • NC_000005.9:g.74636484C>A
  • NG_011449.1:g.8492C>A
  • NM_000859.2:c.-23-1924C>A
  • NM_001130996.1:c.-23-1924C>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 ss278339761 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10045497 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
ss13894039WI_SSAHASNP|chr5.NT_006713.13_4028616byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg11/05/0310/21/04119Genomicunknown
ss23143147PARC|HMGCR-005521byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg05/07/0401/27/05126Genomicunknown
ss69371026PHARMGKB_PARC|PS203156_PA128277016_5521byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg03/22/0703/31/08127Genomicunknown
ss69371028PHARMGKB_PARC|PS203156_PA128277206_5521byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg03/22/0703/31/08127Genomicunknown
ss77761247HGSV|Cor12156_SNV_20070510.chr5_74672240fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg10/09/0710/14/07129Genomicunknown
ss84146465PHARMGKB_PARC|PS206645_PA151827535_5521byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg12/06/0709/05/14130Genomicunknown
ss84146475PHARMGKB_PARC|PS206645_PA151827725_5521byFreqfwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg12/06/0709/05/14130Genomicunknown
ss105931330BGI|BGI_rs10045497fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg09/12/0806/18/09130Genomicunknown
ss116669431ILLUMINA-UK|NA18507_000093057_NCBI36.1_chr5_74672240fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg01/17/0901/17/09130Genomic99 %
ss155600318GMI|GMI_SNP_67560308fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg06/24/0906/24/09131Genomicunknown
ss162366060COMPLETE_GENOMICS|NA07022_36_chr5_74672240fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg09/28/0909/29/09132Genomicunknown
ss166696426COMPLETE_GENOMICS|NA20431_36_chr5_74672240fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg09/30/0909/30/09132Genomicunknown
ss200401363BUSHMAN|BUSHMAN-chr5-74672239fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg02/16/1003/07/10132Genomicunknown
ss207143255BCM-HGSC-SUB|BCM_CMT_1011-1180100fwd/TA/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg03/15/1003/18/10132Genomicunknown
ss2217471751000GENOMES|pilot_1_YRI_3556858_chr5_74672240fwd/A/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg04/22/1004/22/10132Genomicunknown
ss2329952751000GENOMES|pilot_1_CEU_2599904_chr5_74672240fwd/A/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg05/01/1005/01/10132Genomicunknown
ss2401566431000GENOMES|pilot_1_CHB+JPT_2041720_chr5_74672240fwd/A/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg05/01/1005/01/10132Genomicunknown
ss278339761GMI|GMI_AK_SNP_2660000fwd/A/Caacatccaaaatctgaaacgcttctggtccaagcattttggataaaggatactcagcctg12/16/1012/16/10137Genomicunknown
ss558472252TISHKOFF|snp_chr5_74636484fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca11/22/1211/23/12138Genomicunknown
ss652342678SSMP|5_74636484fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca12/14/1202/10/15138Genomicunknown
ss981700380EVA-GONL|EVA-GONL_rs10045497fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca04/23/1404/24/14142Genomicunknown
ss1072729312JMKIDD_LAB|HGDP_WGS_chr5_74636484fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca07/10/1407/11/14142Genomicunknown
ss13156094781000GENOMES|PHASE3_V1_27370284fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca08/16/1408/16/14142Genomicunknown
ss1430382754DDI|DDI_rs10045497fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca11/04/1411/05/14144Genomicunknown
ss1581189923EVA_GENOME_DK|EVA_GENOME_DK_snv_rs10045497fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca02/19/1502/20/15144Genomicunknown
ss1591219846EVA_DECODE|EVA_DECODE_5_74672240_550538_rs10045497fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca03/02/1503/03/15144Genomicunknown
ss1613159996EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_5_74636484_15138666fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca03/04/1503/04/15144Genomicunknown
ss1656154029EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_5_74636484_15138666fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca03/04/1503/04/15144Genomicunknown
ss1803688745HAMMER_LAB|Hsieh_2920342fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca07/15/1507/15/15146Genomicunknown
ss1924956729WEILL_CORNELL_DGM|SNV:chr5:74636484fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca10/16/1510/17/15147Genomicunknown
ss1970117702GENOMED|rs10045497fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca02/16/1602/16/16147Genomicunknown
ss2023084266JJLAB|SNP3586821fwd/TA/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca08/29/1608/30/16149Genomicunknown
ss2151239264USC_VALOUEV|NC_000005.9:g.74636484C>Afwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca11/17/1611/17/16150Genomicunknown
ss2274761672HUMAN_LONGEVITY|HLI-5-75340659-C-Afwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca11/18/1611/18/16150Genomicunknown
ss2442994077TOPMED|5_74636484_C/Afwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca11/20/1611/20/16150Genomicunknown
ss2626038529SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV2297046fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca01/06/1701/06/17151Genomicunknown
ss2706787498GRF|rs10045497fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca02/13/1702/13/17151Genomicunknown
ss2826119053GNOMAD|rs10045497fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca05/18/1705/18/17151Genomicunknown
ss2997145931SWEGEN|NC_000005.9:g.74636484C>Afwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca05/30/1705/30/17151Genomicunknown
ss3022498474ILLUMINA|MEGA_Consortium_v2_15070954_A2_rs10045497-138_T_F_2287535592fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca06/28/1706/28/17151Genomicunknown
ss3025326403BIOINF_KMB_FNS_UNIBA|5.75340659C>Afwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca07/05/1707/05/17151Genomicunknown
ss3346445946CSHL|rs10045497fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca10/02/1710/02/17151Genomicunknown
ss3467954306TOPMED|TOPMed_freeze_5?chr5:75,340,659fwd/A/Cccaaaatctgaaacgcttctggtccaagcattttggataaaggatactca10/04/1710/04/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10045497|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=151
 GGTTAGAAAT AATTTTGACC TAATTTTGAA ACATGTAGTT AATTTACTTT CTGGAACTTT
 GATGCTAATT GATCCTTTAG AACAGTTGGT AGAGTTGTGT TTTAAATGTA GGAAAGAAAT
 TATGTGATAG AATACCATGA TGAAAATCTA GCCTTTTAGT GAGTGAGTCT TTTGTTTATA
 ATTAAGTAGA GTTCAAATCT AAGATTTGAT TAAAGATTTC CAATACTTAA AAGTCCAAGT
 ACCTGCTAAT TTAATAGAAA GTATTTTGTT GCTGTTGTTC ATTTTCCAGG ATAGTTCCAA
 GTTGACTGTC TCTAATCTGA AGATCTGAAA TCCGAAATGC TCCAAAATCT GAAATTTCTT
 GAGCACCAAC CTGACACTCA AAGAAAATGC TCATTGCAGC ATTTGGAGTT TGGATTTTGG
 ATTAGGGATG CTAAGCTAAT AAATGTAATG CAGATATTAC AAAATTCAAA AACATCCAAA
 ATCTGAAACG CTTCTGGTCC
 M
 AAGCATTTTG GATAAAGGAT ACTCAGCCTG TATGTAAAAT GTTTCTCCTT CCCGTACCCC
 ATTAATAAGT TCCCTGAATG CTCTGCATTT AGCCTTAAAC TAGAGGGCAT GGGTTACATC
 CATATCTAGG TGCCTTAAAA AAAAGTCGTC TTTAGGTCTG TTTCAAGATG TGTCATAAAA
 TACATGCTAC TATAGCTTAA GAATTTAAGC CAGCATTTGT TGAGCAATGC TGTATATGAG
 TGCAAGGTGC TGGAGGGTAA ATTGATGAAT AAGACTCAGG GTGGAAGGTT GAAAAAGCAT
 GAGTAAACAC AGGCAGGTAC ATGCCACATT TATATTCCTT TAGGTACTGC CAGCTTTTTA
 AAACTGTGAC CCACAGTAGG AAATACACGT TAATTTAAAA GCCAGACACA CACTTATATA
 GGTATAGTTT CTTGAAACAT AGTTTTAAGA AATAATACCT ACCCATACTA CCTGGCTTAC
 CCAACAGCTA TTTTTTATAA

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_006713
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/C
C/C
HWPA
C
ss116669431YRI 2IG 1.00000000 0.500000000.50000000
ss1315609478EAS 1008AF 0.473199990.52679998
EUR 1006AF 0.388700010.61129999
AFR 1322AF 0.224700000.77530003
AMR 694AF 0.397700010.60229999
SAS 978AF 0.552100000.44790000
ss13894039HapMap-CEUEuropean 116IG0.172413800.500000000.327586201.000000000.422413800.57758623
HapMap-HCBAsian 86IG0.325581400.441860470.232558150.479500000.546511650.45348838
HapMap-JPTAsian 84IG0.285714300.523809550.190476190.751830000.547619040.45238096
HapMap-YRISub-Saharan African 120IG0.033333340.283333330.683333341.000000000.175000000.82499999
ss162366060CEUEuropean 2IG1.00000000 1.00000000
ss166696426PGP 2IG 1.00000000 0.500000000.50000000
ss200401363BUSHMAN_POP2 2IG 1.00000000 0.500000000.50000000
ss221747175pilot_1_YRI_low_coverage_panel 118AF 0.194915250.80508476
ss23143147PARC-AFRICAN-PANELAfrican American 48IG 0.375000000.625000000.527089000.187500000.81250000
PARC-EUROPEAN-PANELEuropean 46IG0.086956520.521739130.391304340.479500000.347826090.65217394
ss232995275pilot_1_CEU_low_coverage_panel 120AF 0.383333330.61666667
ss240156643pilot_1_CHB+JPT_low_coverage_panel 120AF 0.533333360.46666667
ss69371026PA128277017 94AF 0.265957440.73404253
ss69371028PA128277207 94AF 0.265957440.73404253
ss84146465PA151827536 94AF 0.265957440.73404253
ss84146475PA151827726 94AF 0.265957440.73404253

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.478+/-0.1020000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqWith1000GenomeDataUNKNOWNUNKNOWNYES