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Reference SNP (refSNP) Cluster Report: rs10772423                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:C/T (FWD)
Allele Origin:
Ancestral Allele:Not available
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:T=0.4251/51458 (ExAC)
T=0.3353/1679 (1000 Genomes)
T=0.4413/5740 (GO-ESP)
T=0.4511/56639 (TOPMED)
HGVS Names
  • CM000674.2:g.11030618C>T
  • NC_000012.11:g.11183217C>T
  • NC_000012.12:g.11030618C>T
  • NM_001291314.1:c.-126+16402G>A
  • NM_001291315.1:c.36+16402G>A
  • NM_001316893.1:c.140+4164G>A
  • NM_176885.2:c.718G>A
  • NP_795366.2:p.Val240Ile
  • NR_037918.2:n.477+4164G>A
  • NR_133575.1:n.371+16402G>A
  • NT_187658.1:g.229623T=
  • NT_187658.1:g.229623T>C
  • NW_003571047.1:g.229634T=
  • NW_003571047.1:g.229634T>C
  • NW_003571050.1:g.229324C>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 ss281274421 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10772423 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
ss15820806SC_SNP|NT_009714.16_3942191fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt11/17/0311/22/03120Genomicunknown
ss18756282SC_SNP|SC-CHR9-12_NA17119-200402.chr12.NT_009714.16_3942191fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/20/0403/04/04120Genomicunknown
ss18973368SC_SNP|SC-CHR9-12_NA07340-200402.chr12.NT_009714.16_3942191fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/20/0403/04/04120Genomicunknown
ss19238249CSHL-HAPMAP|CSHL-HuDD-200402.chr12.NT_009714.16_3942191fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/20/0403/04/04120Genomicunknown
ss40090906ABI|hCV1326619byFreqfwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt07/16/0503/31/08126Genomicunknown
ss69100753PERLEGEN|PGP14523519byFreqfwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt01/30/0703/31/08127Genomicunknown
ss77738045HGSV|Cor12156_SNV_20070510.chr12_11074484fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt10/09/0710/14/07129Genomicunknown
ss88967439BCMHGSC_JDW|JWB-0518983fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/26/0802/28/08129Genomicunknown
ss97286420HUMANGENOME_JCVI|1103649367275fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt03/28/0803/28/08130Genomicunknown
ss1114843801000GENOMES|CEU.trio.12.15.2008_2677228_chr12_11074484fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt12/17/0812/17/08130Genomicunknown
ss132999373ENSEMBL|ENSSNP10552359fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt05/11/0905/14/09131Genomicunknown
ss170402382COMPLETE_GENOMICS|NA20431_36_chr12_11074484fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt10/01/0910/05/09132Genomicunknown
ss203547287BUSHMAN|BUSHMAN-chr12-11074483fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/16/1003/09/10132Genomicunknown
ss208435931BCM-HGSC-SUB|BCM_CMT_1011-2440203fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt03/15/1003/19/10132Genomicunknown
ss2112402521000GENOMES|YRI.trio.3.2010_1080494_chr12_11074484fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt03/29/1003/30/10132Genomicunknown
ss2256056711000GENOMES|pilot_1_YRI_7415354_chr12_11074484fwd/C/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt04/22/1004/22/10132Genomicunknown
ss2358229241000GENOMES|pilot_1_CEU_5427553_chr12_11074484fwd/C/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt05/01/1005/01/10132Genomicunknown
ss2424019471000GENOMES|pilot_1_CHB+JPT_4287024_chr12_11074484fwd/C/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt05/01/1005/01/10132Genomicunknown
ss254880056BL|SNP15336_12_11074484fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt08/19/1008/19/10134Genomicunknown
ss281274421GMI|GMI_AK_SNP_5594810fwd/C/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt12/16/1012/16/10137Genomicunknown
ss291379933PJP|SNP_886291_chr12_11074484fwd/C/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt01/21/1101/21/11134Genomicunknown
ss491464408EXOME_CHIP|nonsyn_180634_chr_12_11183217fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt03/05/1203/05/12137Genomicunknown
ss491660681CLINSEQ_SNP|SNV-chr12-11074484byFreqfwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc03/06/1209/05/14137Genomicunknown
ss562992459TISHKOFF|snp_chr12_11183217fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc11/22/1211/23/12138Genomicunknown
ss658524092SSMP|12_11183217fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc12/14/1202/13/15138Genomicunknown
ss713077237NHLBI-ESP|ESP6500SI-chr12-11183217fwd/BC/Taaactgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatcacagt02/20/1302/20/13138Genomicunknown
ss989237684EVA-GONL|EVA-GONL_rs10772423fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc04/23/1404/25/14142Genomicunknown
ss13439107521000GENOMES|PHASE3_V1_56826461fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc08/16/1408/16/14142Genomicunknown
ss1426843781DDI|DDI_rs10772423fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc11/04/1411/04/14144Genomicunknown
ss1584080375EVA_FINRISK|EVA_FINRISK_rs10772423fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc02/27/1502/27/15144Genomicunknown
ss1690795658EVA_EXAC|EVA_EXAC_6012897fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc03/04/1503/04/15144Genomicunknown
ss1711321272EVA_MGP|EVA_XIMO_437032fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc03/09/1503/09/15144Genomicunknown
ss1932603239WEILL_CORNELL_DGM|SNV:chr12:11183217fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc10/16/1510/17/15147Genomicunknown
ss1959413473ILLUMINA|12:11183217-CT-0_T_R_2299323591fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc11/13/1511/13/15147Genomicunknown
ss1967522687GENOMED|rs10772423fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc02/16/1602/16/16147Genomicunknown
ss2027046179JJLAB|SNP7548734fwd/BC/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc08/29/1608/30/16149Genomicunknown
ss2351409885TOPMED|12_11183217_C/Tfwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc11/19/1611/19/16150Genomicunknown
ss2628001923SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4796010fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc01/06/1701/06/17151Genomicunknown
ss2699694291GRF|rs10772423fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc02/13/1702/13/17151Genomicunknown
ss2739639871GNOMAD|exomes_rs10772423fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc05/17/1705/17/17151Genomicunknown
ss2748815498GNOMAD|coding_rs10772423fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc05/17/1705/17/17151Genomicunknown
ss2907335194GNOMAD|rs10772423fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc05/22/1705/22/17151Genomicunknown
ss3009205192SWEGEN|NC_000012.11:g.11183217C>Tfwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc05/30/1705/30/17151Genomicunknown
ss3021406177ILLUMINA|MEGA_Consortium_v2_15070954_A2_12:11183217-CT-0_T_R_2299323591fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc06/28/1706/28/17151Genomicunknown
ss3023067445EVA_SAMSUNG_MC|EXOMES.12:g11183217c>tfwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc07/03/1707/03/17151Genomicunknown
ss3162937638TOPMED|TOPMed_freeze_5?chr12:11,030,618fwd/C/Tgatatcattatggacagaaagtaaaggcacataacaagaggaaaaagatc09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10772423|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=151
 AAAATTCTAA GAAATTTTTG TCATATTTTG TATAATTTGG CAGTTTGTAT GAAAAAAACA
 GAAAAGAGCA TGTTATTGTC AATGTTCTTA AGTTTTCATA CACACATAAA CACACACATA
 TATATATTTT TTTTTCTAGA CTAATATTAG GTCAAAGGCT TTTCTAGGTA TACGTTGGGA
 AATTATTCAT ACACATACAG TATAGAAAAA CCAGTAAGAA ATATAAAATG TTTCATACAC
 CACCAGTTTG TTTTCTGCTA GAAGACACAC AATGCCCCTC TCATGAATCT ATGGAGATGA
 AGGCTTCTCT CCTTTCACCC AGTACCTCAC TTGCCGCAAA ACTGAAAGAA AAGTCTGCTT
 TAGCTTCTTG TTTCCCCAAA TCAGGATGAA TGGGTGGATT GAAGGATAGC TGAATCTAAT
 AGCTTTGCAG AACATGAAGA CAGGTTTGTT TTCCAGACTC CCAAAACTCC AAACTGATAT
 CATTATGGAC AGAAAGTAAA
 Y
 GGCACATAAC AAGAGGAAAA AGATCACAGT TTGCAAAGCT TTTATGTGGA CCTTGGTGCT
 GGGATCTTGA GATCCTTTAC CATGGAGCTG CATCTTCTTG AGATGTTTAC ACAGAGAACA
 GATTAACAGC AAAAAACATA GCAGGGTCAG AGTGAAGGGC ACTAAGTTTC CTAGCGTGGT
 TACAGTCGCA TCTGAAAGGT ACACTGCACT CCTCAATTTG ATCTTCCAAG TCAAGTTTCC
 TTCATATTCT TTTGTCCGTA CAATCTCTTT CATGTTTATC ACAAAAAGTT GACAAGCCAA
 AAATAGTAAA GGCCCCAACA GCATCACCAG AATGACACTC TTAACTCTCC TCTTTAAGTG
 AAGAAAAATA AGGTTGGAGA AATTGGCAAT CTTGAGCAAA TAAAATATGC TGAGGCTAGT
 AGCAAGCCAG TTGCTGAAAT GGCCGGTTAC TGCCCAGACA TTATAAGCAG TAGTTCTTAC
 TTCTACACTA TAAAAAGCTG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 ABBA01067808
dbSNP Blast Analysis
UniGene Cluster ID
553663

  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/T
T/T
HWPC
T
ss132999373ENSEMBL_Watson 2IG 1.00000000 1.00000000
ss1343910752EAS 1008AF 0.805599990.19440000
EUR 1006AF 0.519900020.48009998
AFR 1322AF 0.657300000.34270000
AMR 694AF 0.543200020.45679998
SAS 978AF 0.764800010.23520000
ss1690795658ExAc_Aggregated_Populations121400AF 0.575477780.42452225
ss170402382PGP 2IG 1.00000000 0.500000000.50000000
ss225605671pilot_1_YRI_low_coverage_panel 118AF 0.661016940.33898306
ss235822924pilot_1_CEU_low_coverage_panel 120AF 0.449999990.55000001
ss242401947pilot_1_CHB+JPT_low_coverage_panel 120AF 0.808333340.19166666
ss40090906HapMap-YRISub-Saharan African 120IG0.383333330.516666650.100000000.342782000.641666650.35833332
ss491660681CSAgilent 584GF0.270729270.472527470.256743250.371093000.506993000.49300700
ss97286420J. Craig Venter 2IG 1.00000000 0.500000000.50000000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.489+/-0.0740000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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