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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This legacy RefSNP page contains old data from dbSNP build 151 (March 2018) and is no longer maintained.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: rs5751738                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/G/T (FWD)
Allele Origin:
Ancestral Allele:C
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.1332/667 (1000 Genomes)
G=0.0842/10570 (TOPMED)
HGVS Names
  • CM000684.2:g.23803488G>C
  • CM000684.2:g.23803488G>T
  • NC_000022.10:g.24145675G>C
  • NC_000022.10:g.24145675G>T
  • NC_000022.11:g.23803488G>C
  • NC_000022.11:g.23803488G>T
  • NG_009303.1:g.21526G>C
  • NG_009303.1:g.21526G>T
  • NM_001007468.2:c.601+66G>C
  • NM_001007468.2:c.601+66G>T
  • NM_001317946.1:c.655+66G>C
  • NM_001317946.1:c.655+66G>T
  • NM_003073.3:c.628+66G>C
  • NM_003073.3:c.628+66G>T
  • NM_003073.4:c.628+66G>C
  • NM_003073.4:c.628+66G>T
  • NT_187633.1:g.39850G>C
  • NT_187633.1:g.39850G>T
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 ss283600816 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs5751738 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
ss7999784SC_SNP|NT_011520.8_3442073fwd/BC/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc04/15/0310/10/03114Genomicunknown
ss11011265BCM_SSAHASNP|chr22.NT_011520.9_3536244fwd/BC/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc06/30/0310/10/03117Genomicunknown
ss13388684SC_SNP|NT_011520.9_3536244fwd/BC/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/23/0310/31/03119Genomicunknown
ss21862923SSAHASNP|WGSA-200403-chr22.chr22.NT_011520.9_3536244fwd/BC/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc03/20/0403/20/04121Genomicunknown
ss48532394EGP_SNPS|SMARCB1-017928byFreqfwd/C/G/Taacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/13/0511/03/06126Genomicunknown
ss65828907KRIBB_YJKIM|KHS4698byFreqfwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/17/0612/16/06127Genomicunknown
ss78621678HGSV|Cor12878_SNV_20070510.chr22_22470229fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/17/0710/20/07129Genomicunknown
ss80460905HGSV|Cor18507_SNV_20070510.chr22_22470229fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc11/23/0711/25/07130Genomicunknown
ss91890190BCMHGSC_JDW|JWB-1515204fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc02/26/0803/02/08129Genomicunknown
ss103846822BGI|BGI_rs5751738fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc06/07/0806/18/09131Genomicunknown
ss117372574ILLUMINA-UK|NA18507_000009020_NCBI36.1_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc01/19/0901/19/09130Genomic99 %
ss138340141ENSEMBL|ENSSNP11911825fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc05/15/0905/17/09131Genomicunknown
ss139733816ENSEMBL|ENSSNP7834055fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc12/08/0810/16/09131Genomicunknown
ss157071616GMI|GMI_SNP_25019574fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc06/24/0906/25/09131Genomicunknown
ss167745600COMPLETE_GENOMICS|NA07022_36_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc09/30/0909/30/09132Genomicunknown
ss168971550COMPLETE_GENOMICS|NA19240_36_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/01/0910/01/09132Genomicunknown
ss171862527COMPLETE_GENOMICS|NA20431_36_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc10/01/0910/01/09132Genomicunknown
ss204059756BUSHMAN|BUSHMAN-chr22-22475674byFreqfwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc02/16/1009/05/14132Genomicunknown
ss208829880BCM-HGSC-SUB|BCM_CMT_1011-3285315fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc03/15/1003/20/10132Genomicunknown
ss2121067251000GENOMES|YRI.trio.3.2010_1511932_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc03/29/1003/31/10132Genomicunknown
ss2286329331000GENOMES|pilot_1_YRI_10442616_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc04/22/1004/22/10132Genomicunknown
ss2380333231000GENOMES|pilot_1_CEU_7637952_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc05/01/1005/01/10132Genomicunknown
ss2441607221000GENOMES|pilot_1_CHB+JPT_6045799_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc05/01/1005/01/10132Genomicunknown
ss255858489BL|SNP11402_22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc08/20/1008/20/10134Genomicunknown
ss283600816GMI|GMI_AK_SNP_7921237fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc12/16/1012/16/10137Genomicunknown
ss287554486GMI|GMI_NA10851_SNP_3567286fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc12/17/1012/17/10138Genomicunknown
ss292742409PJP|SNP_2248767_chr22_22475675fwd/C/Gaacccctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggcagattc01/21/1101/21/11134Genomicunknown
ss566579178TISHKOFF|snp_chr22_24145675fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca11/22/1211/23/12138Genomicunknown
ss662507494SSMP|22_24145675fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca12/14/1202/14/15138Genomicunknown
ss995252860EVA-GONL|EVA-GONL_rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca04/23/1405/01/14142Genomicunknown
ss1082590099JMKIDD_LAB|HGDP_WGS_chr22_24145675fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca07/10/1407/12/14142Genomicunknown
ss13668017741000GENOMES|PHASE3_V1_80677771fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca08/16/1408/16/14142Genomicunknown
ss1429230373DDI|DDI_rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca11/04/1411/04/14144Genomicunknown
ss1639804893EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_22_24145675_44438619fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca03/04/1503/04/15144Genomicunknown
ss1682798926EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_22_24145675_44438619fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca03/04/1503/04/15144Genomicunknown
ss1699321163EVA_DECODE|EVA_DECODE_22_22475675_53457_rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca03/02/1503/05/15144Genomicunknown
ss1711563749EVA_MGP|EVA_XIMO_679509fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca03/09/1503/09/15144Genomicunknown
ss1809747420HAMMER_LAB|Hsieh_8779280fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca07/15/1507/16/15146Genomicunknown
ss1938819147WEILL_CORNELL_DGM|SNV:chr22:24145675fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca10/16/1510/19/15147Genomicunknown
ss1966658583GENOMED|rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca02/05/1602/16/16147Genomicunknown
ss2030181942JJLAB|SNP10684497fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca08/29/1608/31/16149Genomicunknown
ss2158794088USC_VALOUEV|NC_000022.10:g.24145675G>Cfwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca11/17/1611/17/16150Genomicunknown
ss2246620671HUMAN_LONGEVITY|HLI-22-23803488-G-Cfwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca11/18/1611/18/16150Genomicunknown
ss2629589471SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV6814185fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca01/06/1701/06/17151Genomicunknown
ss2704542320GRF|rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca02/13/1702/13/17151Genomicunknown
ss2973353670GNOMAD|rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca05/23/1705/23/17151Genomicunknown
ss3019150148SWEGEN|NC_000022.10:g.24145675G>Cfwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca05/30/1705/30/17151Genomicunknown
ss3028928321BIOINF_KMB_FNS_UNIBA|22.23803488G>Cfwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca07/05/1707/05/17151Genomicunknown
ss3352793543CSHL|rs5751738fwd/C/Gctgtgtgttacgtgggaacagtccctttcctgccagctgcctgtcaggca10/02/1710/02/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs5751738|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/G/T'|mol=Genomic|build=151
 TGAAAGTCCT GCCAAATTTC AGGCTTAAAT ATCCCTTCAC AGGATGTCTG GGTGTTGTTC
 CAACACTGCC CAGGTCGATT CTATTGCAGA CAGACTGGTG CTTGTTATTT ATGGCCCCAA
 CTGTCCCCAT TAGACCGTGG CCCCGGGACC CCTGCTAGCC TCGTCTGCTG CCTCAGCTGT
 TAGCTGACAA GCGGCCATCT TCCCCAGATG GGTTTGCAGA AGCCTGCTGT GCAGAGAGAG
 AGGCTGAAAA TTTGCATACC TAGGGCTCCG GCCCCCTCGC TGACTGTTGC TTCCATTTCA
 CTTTCAGCTT TGATGACCAT GACCCAGCTG TGATCCATGA GAACGCATCT CAGCCCGAGG
 TGCTGGTCCC CATCCGGCTG GACATGGAGA TCGATGGGCA GAAGCTGCGA GACGCCTTCA
 CCTGGAACAT GAATGGTACA AGGCAGTCGG GCTTGGCTGG GCCTGGCCCC AACCCCTGTG
 TGTTACGTGG GAACAGTCCC
 B
 TTTCCTGCCA GCTGCCTGTC AGGCAGATTC TGGACCTGAC ACGCAGGACA TCGGGGCATA
 GTTTTGGAGG GTGTGGGCTC TGGGTTCAGT CCTGGTTCTG TTGCTGTTCA CTGTGGATTG
 GGCCTGTGAA CTTTGGACTC TTTCCCCATA CTGAGGTTGG GTGGCCCAAG AGGCCTGGCA
 TGGGAGGCGG CTGATCTGCA TAGCATGGAT GATGATGACA ATGCCAGTCA GACCTAGTTC
 AGCCCCCGAG CCCTGCACAC ACCTGCCTTG GGTCCTGTCC ACCACTCTGC TTCTGCTGTG
 TGAGGCTGCA TGTGTGCCCC GTGCCTCTCT CCTCCTCTAA CTGGTCATCT CTAGACATCC
 TCACTCTGTA AGTCCTGGGT CAGATGCCAT CTCTTCTGGC TCTTCCTGGG CTTCCAAAGC
 CTGGACAGAA CTCGGTCTTT GTGCAAATGT AGACAGAAAG GTTAGAAGGA TATGCATCCC
 AGGTGTCTAG ACTGCTTATC

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011520
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.
SourceC/C
C/G
C/T
G/G
HWPC
G
T
ss117372574YRI 2IG1.00000000 1.00000000
ss1366801774EAS 1008AF 0.735099970.26490000
EUR 1006AF 0.943299950.05670000
AFR 1322AF 0.934899990.06510000
AMR 694AF 0.893400010.10660000
SAS 978AF 0.812899950.18709999
ss138340141ENSEMBL_Watson 2IG1.00000000 1.00000000
ss139733816ENSEMBL_Venter 2IG1.00000000 1.00000000
ss167745600CEUEuropean 2IG1.00000000 1.00000000
ss168971550YRISub-Saharan African 2IG 1.00000000 0.500000000.50000000
ss171862527PGP 2IG1.00000000 1.00000000
ss204059756BUSHMAN_POP 4IG 1.00000000 0.500000000.50000000
ss228632933pilot_1_YRI_low_coverage_panel 118AF 0.940677940.05932203
ss238033323pilot_1_CEU_low_coverage_panel 120AF 0.949999990.05000000
ss244160722pilot_1_CHB+JPT_low_coverage_panel 120AF 0.716666640.28333333
ss48532394EGP_YORUB-PANELSub-Saharan African 24IG0.91666669 0.08333334 1.000000000.95833331 0.04166667
EGP_HISP-PANELHispanic 42IG0.619047640.28571430 0.095238100.342782000.761904780.23809524
EGP_CEPH-PANELEuropean 44IG0.954545440.04545455 1.000000000.977272750.02272727
EGP_AD-PANELAfrican American 30IG1.00000000 1.00000000
EGP_ASIAN-PANELAsian 48IG0.458333340.45833334 0.083333340.751830000.687500000.31250000
ss65828907KHP1 180AF0.511111140.36666667 0.122222220.200325000.694444420.30555555

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.231+/-0.2490000

  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
UNKNOWNUNKNOWNYES