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rs121918717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918717(A;A)
Make rs121918717(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position24259720
GeneTGM1
is asnp
is mentioned by
dbSNPrs121918717
ebirs121918717
HLIrs121918717
Exacrs121918717
Varsomers121918717
Maprs121918717
PheGenIrs121918717
hapmaprs121918717
1000 genomesrs121918717
hgdprs121918717
ensemblrs121918717
gopubmedrs121918717
geneviewrs121918717
scholarrs121918717
googlers121918717
pharmgkbrs121918717
gwascentralrs121918717
openSNPrs121918717
23andMers121918717
23andMe allrs121918717
SNP Nexus

SNPshotrs121918717
SNPdbers121918717
MSV3drs121918717
GWAS Ctlgrs121918717
Max Magnitude0
OMIM190195
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918717(A;A)
Alt rs121918717(A;A)
Reference rs121918717(G;G)
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.24728926C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013303.17,