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rs118203936

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203936(C;G)
Make rs118203936(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position15549173
GeneCYP4F22
is asnp
is mentioned by
dbSNPrs118203936
ebirs118203936
HLIrs118203936
Exacrs118203936
Varsomers118203936
Maprs118203936
PheGenIrs118203936
hapmaprs118203936
1000 genomesrs118203936
hgdprs118203936
ensemblrs118203936
gopubmedrs118203936
geneviewrs118203936
scholarrs118203936
googlers118203936
pharmgkbrs118203936
gwascentralrs118203936
openSNPrs118203936
23andMers118203936
23andMe allrs118203936
SNP Nexus

SNPshotrs118203936
SNPdbers118203936
MSV3drs118203936
GWAS Ctlgrs118203936
Max Magnitude0
OMIM611495
Desc
Variant0002
Relatedalso
ClinVar
Risk rs118203936(G;G)
Alt rs118203936(G;G)
Reference rs118203936(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 5
Variation info
Gene CYP4F22
CLNDBN Autosomal recessive congenital ichthyosis 5
Reversed 0
HGVS NC_000019.9:g.15659984C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000958.2,