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

rs863223405

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223405(C;C)
Make rs863223405(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position24258324
GeneTGM1
is asnp
is mentioned by
dbSNPrs863223405
ebirs863223405
HLIrs863223405
Exacrs863223405
Varsomers863223405
Maprs863223405
PheGenIrs863223405
hapmaprs863223405
1000 genomesrs863223405
hgdprs863223405
ensemblrs863223405
gopubmedrs863223405
geneviewrs863223405
scholarrs863223405
googlers863223405
pharmgkbrs863223405
gwascentralrs863223405
openSNPrs863223405
23andMers863223405
23andMe allrs863223405
SNP Nexus

SNPshotrs863223405
SNPdbers863223405
MSV3drs863223405
GWAS Ctlgrs863223405
Max Magnitude0
ClinVar
Risk rs863223405(C;C)
Alt rs863223405(C;C)
Reference rs863223405(T;T)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 1
Variation info
Gene TGM1
CLNDBN Autosomal recessive congenital ichthyosis 1
Reversed 1
HGVS NC_000014.8:g.24727530A>G
CLNSRC
CLNACC RCV000201247.1,