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

rs121918728

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918728(C;G)
Make rs121918728(G;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24261724
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918728
ebirs121918728
HLIrs121918728
Exacrs121918728
Varsomers121918728
Maprs121918728
PheGenIrs121918728
hapmaprs121918728
1000 genomesrs121918728
hgdprs121918728
ensemblrs121918728
gopubmedrs121918728
geneviewrs121918728
scholarrs121918728
googlers121918728
pharmgkbrs121918728
gwascentralrs121918728
openSNPrs121918728
23andMers121918728
23andMe allrs121918728
SNP Nexus

SNPshotrs121918728
SNPdbers121918728
MSV3drs121918728
GWAS Ctlgrs121918728
Max Magnitude0
OMIM190195
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121918728(G;G)
Alt rs121918728(G;G)
Reference rs121918728(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.24730930G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000013300.24,