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rs118203935

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs118203935(C;T)
Make rs118203935(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position15549170
GeneCYP4F22
is asnp
is mentioned by
dbSNPrs118203935
dbSNP (old)rs118203935
ClinGenrs118203935
ebirs118203935
HLIrs118203935
Exacrs118203935
Gnomadrs118203935
Varsomers118203935
Maprs118203935
PheGenIrs118203935
Biobankrs118203935
1000 genomesrs118203935
hgdprs118203935
ensemblrs118203935
gopubmedrs118203935
geneviewrs118203935
scholarrs118203935
googlers118203935
pharmgkbrs118203935
gwascentralrs118203935
openSNPrs118203935
23andMers118203935
23andMe allrs118203935
SNP Nexus

SNPshotrs118203935
SNPdbers118203935
MSV3drs118203935
GWAS Ctlgrs118203935
Max Magnitude0
OMIM611495
Desc
Variant0001
Relatedalso
ClinVar
Risk rs118203935(T;T)
Alt rs118203935(T;T)
Reference Rs118203935(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 5 not provided
Variation info
Gene CYP4F22
CLNDBN Autosomal recessive congenital ichthyosis 5 not provided
Reversed 0
HGVS NC_000019.9:g.15659981C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000957.2, RCV000412942.1,