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rs118203937

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs118203937(A;A)
Make rs118203937(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position15540506
GeneCYP4F22
is asnp
is mentioned by
dbSNPrs118203937
dbSNP (classic)rs118203937
ClinGenrs118203937
ebirs118203937
HLIrs118203937
Exacrs118203937
Gnomadrs118203937
Varsomers118203937
LitVarrs118203937
Maprs118203937
PheGenIrs118203937
Biobankrs118203937
1000 genomesrs118203937
hgdprs118203937
ensemblrs118203937
geneviewrs118203937
scholarrs118203937
googlers118203937
pharmgkbrs118203937
gwascentralrs118203937
openSNPrs118203937
23andMers118203937
SNPshotrs118203937
SNPdbers118203937
MSV3drs118203937
GWAS Ctlgrs118203937
Max Magnitude0
OMIM611495
Desc
Variant0003
Relatedalso
ClinVar
Risk rs118203937(A;A)
Alt rs118203937(A;A)
Reference Rs118203937(G;G)
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.15651317G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000000959.2,