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rs138444697

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs138444697(C;T)
Make rs138444697(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position186208972
GeneCYP4V2
is asnp
is mentioned by
dbSNPrs138444697
ebirs138444697
HLIrs138444697
Exacrs138444697
Varsomers138444697
Maprs138444697
PheGenIrs138444697
hapmaprs138444697
1000 genomesrs138444697
hgdprs138444697
ensemblrs138444697
gopubmedrs138444697
geneviewrs138444697
scholarrs138444697
googlers138444697
pharmgkbrs138444697
gwascentralrs138444697
openSNPrs138444697
23andMers138444697
23andMe allrs138444697
SNP Nexus

SNPshotrs138444697
SNPdbers138444697
MSV3drs138444697
GWAS Ctlgrs138444697
Max Magnitude0
ClinVar
Risk rs138444697(T;T)
Alt rs138444697(T;T)
Reference rs138444697(C;C)
Significance Pathogenic
Disease Bietti crystalline corneoretinal dystrophy
Variation info
Gene CYP4V2
CLNDBN Bietti crystalline corneoretinal dystrophy
Reversed 0
HGVS NC_000004.11:g.187130126C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000032530.2,