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rs41295338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs41295338(A;A)
Make rs41295338(A;C)
ReferenceGRCh38 38.1/142
Chromosome14
Position24262228
GeneTGM1
is asnp
is mentioned by
dbSNPrs41295338
ebirs41295338
HLIrs41295338
Exacrs41295338
Varsomers41295338
Maprs41295338
PheGenIrs41295338
hapmaprs41295338
1000 genomesrs41295338
hgdprs41295338
ensemblrs41295338
gopubmedrs41295338
geneviewrs41295338
scholarrs41295338
googlers41295338
pharmgkbrs41295338
gwascentralrs41295338
openSNPrs41295338
23andMers41295338
23andMe allrs41295338
SNP Nexus

SNPshotrs41295338
SNPdbers41295338
MSV3drs41295338
GWAS Ctlgrs41295338
GMAF0.003214
Max Magnitude0
OMIM190195
Desc
Variant0003
Relatedalso


ClinVar
Risk rs41295338(A,G;A,G)
Alt rs41295338(A,G;A,G)
Reference rs41295338(C;C)
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.24731434G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013298.25,