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rs377046630

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs377046630(C;T)
Make rs377046630(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position78252452
GeneFRAS1
is asnp
is mentioned by
dbSNPrs377046630
ebirs377046630
HLIrs377046630
Exacrs377046630
Varsomers377046630
Maprs377046630
PheGenIrs377046630
hapmaprs377046630
1000 genomesrs377046630
hgdprs377046630
ensemblrs377046630
gopubmedrs377046630
geneviewrs377046630
scholarrs377046630
googlers377046630
pharmgkbrs377046630
gwascentralrs377046630
openSNPrs377046630
23andMers377046630
23andMe allrs377046630
SNP Nexus

SNPshotrs377046630
SNPdbers377046630
MSV3drs377046630
GWAS Ctlgrs377046630
Max Magnitude0
ClinVar
Risk rs377046630(T;T)
Alt rs377046630(T;T)
Reference rs377046630(C;C)
Significance Pathogenic
Disease Cryptophthalmos syndrome
Variation info
Gene FRAS1
CLNDBN Cryptophthalmos syndrome
Reversed 0
HGVS NC_000004.11:g.79173606C>T
CLNSRC
CLNACC RCV000178998.1,