Have questions? Visit https://www.reddit.com/r/SNPedia

rs147962513

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147962513(A;G)
Make rs147962513(G;G)
ReferenceGRCh38 38.1/142
Chromosome12
Position52571381
GeneKRT74
is asnp
is mentioned by
dbSNPrs147962513
ebirs147962513
HLIrs147962513
Exacrs147962513
Varsomers147962513
Maprs147962513
PheGenIrs147962513
hapmaprs147962513
1000 genomesrs147962513
hgdprs147962513
ensemblrs147962513
gopubmedrs147962513
geneviewrs147962513
scholarrs147962513
googlers147962513
pharmgkbrs147962513
gwascentralrs147962513
openSNPrs147962513
23andMers147962513
23andMe allrs147962513
SNP Nexus

SNPshotrs147962513
SNPdbers147962513
MSV3drs147962513
GWAS Ctlgrs147962513
Max Magnitude0
ClinVar
Risk rs147962513(G;G)
Alt rs147962513(G;G)
Reference rs147962513(A;A)
Significance Pathogenic
Disease Ectodermal dysplasia Ectodermal dysplasia 7
Variation info
Gene KRT74
CLNDBN Ectodermal dysplasia, 'pure' hair-nail type Ectodermal dysplasia 7, hair/nail type
Reversed 0
HGVS NC_000012.11:g.52965165A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000128478.1, RCV000128640.3,