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rs61218439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs61218439(A;T)
Make rs61218439(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position52676315
GeneKRT1
is asnp
is mentioned by
dbSNPrs61218439
ebirs61218439
HLIrs61218439
Exacrs61218439
Varsomers61218439
Maprs61218439
PheGenIrs61218439
hapmaprs61218439
1000 genomesrs61218439
hgdprs61218439
ensemblrs61218439
gopubmedrs61218439
geneviewrs61218439
scholarrs61218439
googlers61218439
pharmgkbrs61218439
gwascentralrs61218439
openSNPrs61218439
23andMers61218439
23andMe allrs61218439
SNP Nexus

SNPshotrs61218439
SNPdbers61218439
MSV3drs61218439
GWAS Ctlgrs61218439
Max Magnitude0
OMIM139350
Desc
Variant0006
Relatedalso


ClinVar
Risk rs61218439(G,T;G,T)
Alt rs61218439(G,T;G,T)
Reference rs61218439(A;A)
Significance Pathogenic
Disease Ichthyosis not provided
Variation info
Gene KRT1
CLNDBN Ichthyosis, cyclic, with epidermolytic hyperkeratosis not provided
Reversed 1
HGVS NC_000012.11:g.53070099T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017263.27, RCV000057062.1,