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rs120074158

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074158(C;T)
Make rs120074158(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position78387525
GeneFRAS1
is asnp
is mentioned by
dbSNPrs120074158
ebirs120074158
HLIrs120074158
Exacrs120074158
Varsomers120074158
Maprs120074158
PheGenIrs120074158
hapmaprs120074158
1000 genomesrs120074158
hgdprs120074158
ensemblrs120074158
gopubmedrs120074158
geneviewrs120074158
scholarrs120074158
googlers120074158
pharmgkbrs120074158
gwascentralrs120074158
openSNPrs120074158
23andMers120074158
23andMe allrs120074158
SNP Nexus

SNPshotrs120074158
SNPdbers120074158
MSV3drs120074158
GWAS Ctlgrs120074158
Max Magnitude0
OMIM607830
Desc
Variant0004
Relatedalso
ClinVar
Risk rs120074158(T;T)
Alt rs120074158(T;T)
Reference rs120074158(C;C)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79308679C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002946.2,