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rs120074159

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074159(C;G)
Make rs120074159(G;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position78407804
GeneFRAS1
is asnp
is mentioned by
dbSNPrs120074159
ebirs120074159
HLIrs120074159
Exacrs120074159
Varsomers120074159
Maprs120074159
PheGenIrs120074159
hapmaprs120074159
1000 genomesrs120074159
hgdprs120074159
ensemblrs120074159
gopubmedrs120074159
geneviewrs120074159
scholarrs120074159
googlers120074159
pharmgkbrs120074159
gwascentralrs120074159
openSNPrs120074159
23andMers120074159
23andMe allrs120074159
SNP Nexus

SNPshotrs120074159
SNPdbers120074159
MSV3drs120074159
GWAS Ctlgrs120074159
Max Magnitude0
OMIM607830
Desc
Variant0005
Relatedalso
ClinVar
Risk rs120074159(G;G)
Alt rs120074159(G;G)
Reference Rs120074159(C;C)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79328958C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000002947.2,