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rs59169454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;GG) 0 common in clinvar
(I;I) 0
Make rs59169454(A;A)
Make rs59169454(A;GG)
ReferenceGRCh38 38.1/141
Chromosome12
Position52675518
GeneKRT1
is asnp
is mentioned by
dbSNPrs59169454
ebirs59169454
HLIrs59169454
Exacrs59169454
Varsomers59169454
Maprs59169454
PheGenIrs59169454
hapmaprs59169454
1000 genomesrs59169454
hgdprs59169454
ensemblrs59169454
gopubmedrs59169454
geneviewrs59169454
scholarrs59169454
googlers59169454
pharmgkbrs59169454
gwascentralrs59169454
openSNPrs59169454
23andMers59169454
23andMe allrs59169454
SNP Nexus

SNPshotrs59169454
SNPdbers59169454
MSV3drs59169454
GWAS Ctlgrs59169454
Max Magnitude0
ClinVar
Risk rs59169454(A;A)
Alt rs59169454(A;A)
Reference rs59169454(GG;GG)
Significance Pathogenic
Disease Ichthyosis histrix not provided
Variation info
Gene KRT1
CLNDBN Ichthyosis histrix, curth-macklin type not provided
Reversed 1
HGVS NC_000012.11:g.53069302_53069303delCCinsT
CLNSRC OMIM Allelic Variant
CLNACC RCV000017270.23, RCV000057075.1,