NCBI
dbSNP
dbVar ClinVar GaP PubMed Nucleotide Protein
Search small variations in dbSNP or large structural variations in dbVar
transparent GIF
Re-designed RefSNP Report page!
Clean, modern design that makes it easy to find the information that you are looking for. Report any problems by sending us an email.
Spacer gif
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP (refSNP) Cluster Report: rs12424373                 
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/151
Map to Genome Build:108/Weight 1
Validation Status:byClusterbyFreqwithHapMapFreqWith1000GenomeData
Allele
Variation Class:SNV:
single nucleotide variation
RefSNP Alleles:G/T (FWD)
Allele Origin:
Ancestral Allele:T
Variation Viewer:link to VariationViewer
Clinical Significance:NA
MAF/MinorAlleleCount:G=0.0504/6103 (ExAC)
G=0.0615/308 (1000 Genomes)
G=0.0058/76 (GO-ESP)
G=0.0234/2939 (TOPMED)
HGVS Names
  • CM000674.2:g.11022196T>G
  • NC_000012.11:g.11174795T>G
  • NC_000012.12:g.11022196T>G
  • NM_001291314.1:c.-126+24824A>C
  • NM_001291315.1:c.36+24824A>C
  • NM_001316893.1:c.140+12586A>C
  • NM_176888.2:c.376A>C
  • NP_795369.1:p.Lys126Gln
  • NR_037918.2:n.477+12586A>C
  • NR_133575.1:n.371+24824A>C
  • NT_187658.1:g.220890T>G
  • NW_003571047.1:g.220901T>G
  • NW_003571050.1:g.220902T>G
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 ss281274328 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12424373 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
ss19240343CSHL-HAPMAP|CSHL-HuDD-200402.chr12.NT_009714.16_3933769fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag02/20/0403/04/04120Genomicunknown
ss40234946ABI|hCV31377099byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag07/16/0511/02/06126Genomicunknown
ss74821054AFFY|SNP_M-324277fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag08/09/0708/09/07128Genomicunknown
ss103023788BGI|BGI_rs12424373fwd/BG/Tgccccaacagtatcacmagaasaacactctaattctcttctttaggtggagagaaataag06/05/0810/21/09130Genomicunknown
ss159725721SEATTLESEQ|TAS2R48-11066062fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag07/10/0907/10/09131Genomicunknown
ss170402169COMPLETE_GENOMICS|NA20431_36_chr12_11066062fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag10/01/0910/05/09132Genomicunknown
ss2174008341000GENOMES|pilot_3_CHB_2041_chr12_11066062byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag04/09/1009/05/14132Genomicunknown
ss2174026161000GENOMES|pilot_3_CHD_2073_chr12_11066062byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag04/09/1009/05/14132Genomicunknown
ss2174103931000GENOMES|pilot_3_JPT_1796_chr12_11066062byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag04/09/1009/05/14132Genomicunknown
ss2174213601000GENOMES|pilot_3_TSI_1947_chr12_11066062byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag04/09/1009/05/14132Genomicunknown
ss2424018091000GENOMES|pilot_1_CHB+JPT_4286886_chr12_11066062fwd/G/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag05/01/1005/01/10132Genomicunknown
ss281274328GMI|GMI_AK_SNP_5594717fwd/G/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag12/16/1012/16/10137Genomicunknown
ss342350022NHLBI-ESP|ESP2500-chr12-11174795byFreqfwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag03/25/1109/05/14134Genomicunknown
ss4910371191000GENOMES|20110521_exome_544917_chr12_11174795fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag02/10/1202/22/12137Genomicunknown
ss491464392EXOME_CHIP|nonsyn_180618_chr_12_11174795fwd/BG/Tgccccaacagtatcaccagaacaacactctaattctcttctttaggtggagagaaataag03/05/1203/05/12137Genomicunknown
ss491660668CLINSEQ_SNP|SNV-chr12-11066062byFreqfwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/06/1209/05/14137Genomicunknown
ss658524015SSMP|12_11174795fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa12/14/1202/13/15138Genomicunknown
ss780908178ILLUMINA|HumanOmni25Exome-8v1_A_exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/30/1307/10/15142Genomicunknown
ss783595629ILLUMINA|HumanOmniExpressExome-8v1_A_exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/31/1306/18/15142Genomicunknown
ss989237610EVA-GONL|EVA-GONL_rs12424373fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa04/23/1404/25/14142Genomicunknown
ss1067531730JMKIDD_LAB|HGDP_exomes_chr12_11174795fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa07/09/1407/09/14142Genomicunknown
ss1078246291JMKIDD_LAB|HGDP_WGS_chr12_11174795fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa07/10/1407/12/14142Genomicunknown
ss13439104761000GENOMES|PHASE3_V1_56826174fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa08/16/1408/16/14142Genomicunknown
ss1584080370EVA_FINRISK|EVA_FINRISK_rs12424373fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa02/27/1502/27/15144Genomicunknown
ss1598906882EVA_DECODE|EVA_DECODE_12_11066062_86303_rs12424373fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/02/1503/04/15144Genomicunknown
ss1628011721EVA_UK10K_ALSPAC|EVA_UK10K_ALSPAC_12_11174795_31436321fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/04/1503/04/15144Genomicunknown
ss1671005754EVA_UK10K_TWINSUK|EVA_UK10K_TWINSUK_12_11174795_31436321fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/04/1503/04/15144Genomicunknown
ss1690795496EVA_EXAC|EVA_EXAC_6012729fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/04/1503/04/15144Genomicunknown
ss1711321259EVA_MGP|EVA_XIMO_437019fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa03/09/1503/09/15144Genomicunknown
ss1752046507ILLUMINA|OmniExpressExome-8v1-1_B_exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/27/1506/09/15146Genomicunknown
ss1917870913ILLUMINA|HumanExome-12v1-1_B_exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa10/16/1510/16/15147Genomicunknown
ss1932603147WEILL_CORNELL_DGM|SNV:chr12:11174795fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa10/16/1510/17/15147Genomicunknown
ss1946331661ILLUMINA|HumanCoreExome-12v1-0_C_exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa10/29/1510/29/15147Genomicunknown
ss1959413444ILLUMINA|exm984382-0_B_F_1922436213fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa11/13/1511/13/15147Genomicunknown
ss1967522628GENOMED|rs12424373fwd/BG/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa02/16/1602/16/16147Genomicunknown
ss2155369053USC_VALOUEV|NC_000012.11:g.11174795T>Gfwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa11/17/1611/17/16150Genomicunknown
ss2351409309TOPMED|12_11174795_T/Gfwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa11/19/1611/19/16150Genomicunknown
ss2628001892SYSTEMSBIOZJU|SYSTEMSBIOZJU_SNV4795943fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa01/06/1701/06/17151Genomicunknown
ss2699694152GRF|rs12424373fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa02/13/1702/13/17151Genomicunknown
ss2739639666GNOMAD|exomes_rs12424373fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/17/1705/17/17151Genomicunknown
ss2748815394GNOMAD|coding_rs12424373fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/17/1705/17/17151Genomicunknown
ss2907333916GNOMAD|rs12424373fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/22/1705/22/17151Genomicunknown
ss3009204693SWEGEN|NC_000012.11:g.11174795T>Gfwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa05/30/1705/30/17151Genomicunknown
ss3021406150ILLUMINA|MEGA_Consortium_v2_15070954_A2_exm984382-0_B_F_1922436213fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa06/28/1706/28/17151Genomicunknown
ss3162935498TOPMED|TOPMed_freeze_5?chr12:11,022,196fwd/G/Taacagtatcaccagaacaacactctaattctcttctttaggtggagagaa09/30/1709/30/17151Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12424373|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=151
 TGAAAGAAAG GTCTGTTTTA GCTTCCTACT TCCCATAATC AGGATGAATG AGTGGAATGA
 AGGATACATG ATTGCAACAG TTTGGCAAAG CAGGAGTACA AGTTTGCTCT GCTGTGTCCT
 AAGATTCCAA GTTGATGTGA TTATACACAG AAAGTAAATG GCAAATAACA TGAGGAAGGA
 GGTCACAGTT TGCAAAGCTT TTATATGGAC CTTGGTGCTG GGATCTTGAG ATCCTTTGCT
 ATGGAGCCGC ATCTTCTTGA GATGTTTACA AAGAGAACAG ATTAACAGCA GAAAACATAT
 TAGGCTCAGA GTAAAGGGTA TGAGGTTTGC TAGAGTAGTT ACAGTCAAGC TTGAAAGGTG
 TATTGCATTC CTCAATTTGA TCTTCCAAGT CACATTTCCT TCATATTCTT TTGTCCACAC
 TCTCTCATCC ATGGTTATCA CAGCAAGATT ACAAATCAGA AATACCAAGG GCCCCAACAG
 TATCACCAGA ACAACACTCT
 K
 AATTCTCTTC TTTAGGTGGA GAGAAATAAG GTTGGAGAAA TTGGCAATCT TGAGCAAACA
 AAATATGCTG AGGCTAGCAG CAAGCCACAT GCTGAAATGG TTCGTTACAG CCCAGGCATT
 AGAAGCAACA ATTCTTACTT CTAAACCATA TAAAGCAGAA TTAAACACAG TTGCATACCA
 AAGGAATAAC ATGACCCAGA GTAAACCAAT TCTGGAGACC ACCAGAGCAG TGAGAATTTG
 CTCAGCTGAG GAGATCTTTC GTGTGTTAAC CCAGTCAATG ACATTTACTA GGGCTATGAA
 GCCATTGGCA ACATTTCCAA GAACAAATGC AAACACTACC AGAATTGATG AAATGATGAG
 CAGAAAACAC ATCATGTTTG AACAGATAAA AAAATGCAGG CTTAGTAACA CTTGTTCTGA
 GTCCTTTAAC ATCCAGATGT TAACTTCGAT GAACACTTGA TTACTAAATG TGCAATAACA
 TTTTCTGCCT TTAAATTCAG

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714
dbSNP Blast Analysis
UniGene Cluster ID
534594

  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
ss1343910476EAS 1008AF 0.099200000.90079999
EUR 1006AF 0.004000000.99599999
AFR 1322AF 0.000800000.99919999
AMR 694AF 0.095099990.90490001
SAS 978AF 0.140100000.85990000
ss1690795496ExAc_Aggregated_Populations121410AF 0.050317110.94968289
ss170402169PGP 2IG 1.00000000 0.500000000.50000000
ss217400834pilot_3_CHB_exon_capture_panel 214AF 0.107476640.89252335
ss217402616pilot_3_CHD_exon_capture_panel 214AF 0.121495330.87850469
ss217410393pilot_3_JPT_exon_capture_panel 204AF 0.156862750.84313726
ss217421360pilot_3_TSI_exon_capture_panel 120AF 0.016666670.98333335
ss242401809pilot_1_CHB+JPT_low_coverage_panel 120AF 0.091666670.90833336
ss342350022ESP_Cohort_Populations 4106GF 0.011690210.988309801.000000000.005845100.99415487
ss40234946HapMap-CEUEuropean 120IG 1.00000000 1.00000000
HapMap-HCBAsian 90IG 0.155555560.844444451.000000000.077777780.92222220
HapMap-JPTAsian 90IG 0.266666680.733333350.654721000.133333340.86666667
HapMap-YRISub-Saharan African 120IG 1.00000000 1.00000000
ENSEMBL_Watson 2IG 1.00000000 1.00000000
ENSEMBL_Venter 2IG 1.00000000 1.00000000
ss491660668CSAgilent 1321GF 0.024000000.975999951.000000000.012000000.98799998

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.096+/-0.1970000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqWith1000GenomeDataUNKNOWNUNKNOWNUNKNOWN

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement