Have questions? Visit https://www.reddit.com/r/SNPedia

rs120074156

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs120074156(C;T)
Make rs120074156(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position78481962
GeneFRAS1
is asnp
is mentioned by
dbSNPrs120074156
ebirs120074156
HLIrs120074156
Exacrs120074156
Varsomers120074156
Maprs120074156
PheGenIrs120074156
hapmaprs120074156
1000 genomesrs120074156
hgdprs120074156
ensemblrs120074156
gopubmedrs120074156
geneviewrs120074156
scholarrs120074156
googlers120074156
pharmgkbrs120074156
gwascentralrs120074156
openSNPrs120074156
23andMers120074156
23andMe allrs120074156
SNP Nexus

SNPshotrs120074156
SNPdbers120074156
MSV3drs120074156
GWAS Ctlgrs120074156
Max Magnitude0
OMIM607830
Desc
Variant0001
Relatedalso
ClinVar
Risk rs120074156(T;T)
Alt rs120074156(T;T)
Reference rs120074156(C;C)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79403116C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002943.2,