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rs59429455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs59429455(A;A)
Make rs59429455(A;C)
ReferenceGRCh38 38.1/141
Chromosome12
Position52679785
GeneKRT1
is asnp
is mentioned by
dbSNPrs59429455
ebirs59429455
HLIrs59429455
Exacrs59429455
Varsomers59429455
Maprs59429455
PheGenIrs59429455
hapmaprs59429455
1000 genomesrs59429455
hgdprs59429455
ensemblrs59429455
gopubmedrs59429455
geneviewrs59429455
scholarrs59429455
googlers59429455
pharmgkbrs59429455
gwascentralrs59429455
openSNPrs59429455
23andMers59429455
23andMe allrs59429455
SNP Nexus

SNPshotrs59429455
SNPdbers59429455
MSV3drs59429455
GWAS Ctlgrs59429455
Max Magnitude0
OMIM139350
Desc
Variant0008
Relatedalso
ClinVar
Risk rs59429455(A;A)
Alt rs59429455(A;A)
Reference rs59429455(C;C)
Significance Pathogenic
Disease Bullous ichthyosiform erythroderma not provided
Variation info
Gene KRT1
CLNDBN Bullous ichthyosiform erythroderma not provided
Reversed 1
HGVS NC_000012.11:g.53073569G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017265.27, RCV000057092.1,