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

rs147718368

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs147718368(A;G)
Make rs147718368(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position17498964
GeneBFSP1
is asnp
is mentioned by
dbSNPrs147718368
ebirs147718368
HLIrs147718368
Exacrs147718368
Varsomers147718368
Maprs147718368
PheGenIrs147718368
hapmaprs147718368
1000 genomesrs147718368
hgdprs147718368
ensemblrs147718368
gopubmedrs147718368
geneviewrs147718368
scholarrs147718368
googlers147718368
pharmgkbrs147718368
gwascentralrs147718368
openSNPrs147718368
23andMers147718368
23andMe allrs147718368
SNP Nexus

SNPshotrs147718368
SNPdbers147718368
MSV3drs147718368
GWAS Ctlgrs147718368
Max Magnitude0
ClinVar
Risk rs147718368(G;G)
Alt rs147718368(G;G)
Reference rs147718368(A;A)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene BFSP1
CLNDBN Congenital cataract
Reversed 0
HGVS NC_000020.10:g.17479609A>G
CLNSRC
CLNACC RCV000203387.1,