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rs120074157

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074157(C;T)
Make rs120074157(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position78496859
GeneFRAS1
is asnp
is mentioned by
dbSNPrs120074157
ebirs120074157
HLIrs120074157
Exacrs120074157
Varsomers120074157
Maprs120074157
PheGenIrs120074157
hapmaprs120074157
1000 genomesrs120074157
hgdprs120074157
ensemblrs120074157
gopubmedrs120074157
geneviewrs120074157
scholarrs120074157
googlers120074157
pharmgkbrs120074157
gwascentralrs120074157
openSNPrs120074157
23andMers120074157
23andMe allrs120074157
SNP Nexus

SNPshotrs120074157
SNPdbers120074157
MSV3drs120074157
GWAS Ctlgrs120074157
Max Magnitude0
OMIM607830
Desc
Variant0002
Relatedalso
ClinVar
Risk rs120074157(T;T)
Alt rs120074157(T;T)
Reference rs120074157(C;C)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79418013C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002944.2,