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rs864309704

From SNPedia

Orientationminus
Make rs864309704(-;-)
Make rs864309704(-;T)
ReferenceGRCh38.p2 38.2/147
Chromosome20
Position17494580
GeneBFSP1
is asnp
is mentioned by
dbSNPrs864309704
ebirs864309704
HLIrs864309704
Exacrs864309704
Varsomers864309704
Maprs864309704
PheGenIrs864309704
hapmaprs864309704
1000 genomesrs864309704
hgdprs864309704
ensemblrs864309704
gopubmedrs864309704
geneviewrs864309704
scholarrs864309704
googlers864309704
pharmgkbrs864309704
gwascentralrs864309704
openSNPrs864309704
23andMers864309704
23andMe allrs864309704
SNP Nexus

SNPshotrs864309704
SNPdbers864309704
MSV3drs864309704
GWAS Ctlgrs864309704
Max Magnitude
ClinVar
Risk rs864309704(;)
Alt rs864309704(;)
Reference rs864309704(T;T)
Significance Probable-Pathogenic
Disease Congenital cataract
Variation info
Gene BFSP1
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000020.10:g.17475225delA
CLNSRC
CLNACC RCV000203387.1,