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rs121908938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs121908938(-;-)
Make rs121908938(-;GAA)
ReferenceGRCh38 38.1/141
Chromosome3
Position133448613
GeneBFSP2
is asnp
is mentioned by
dbSNPrs121908938
ebirs121908938
HLIrs121908938
Exacrs121908938
Varsomers121908938
Maprs121908938
PheGenIrs121908938
hapmaprs121908938
1000 genomesrs121908938
hgdprs121908938
ensemblrs121908938
gopubmedrs121908938
geneviewrs121908938
scholarrs121908938
googlers121908938
pharmgkbrs121908938
gwascentralrs121908938
openSNPrs121908938
23andMers121908938
23andMe allrs121908938
SNP Nexus

SNPshotrs121908938
SNPdbers121908938
MSV3drs121908938
GWAS Ctlgrs121908938
Max Magnitude0
OMIM603212
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121908938(;)
Alt rs121908938(;)
Reference rs121908938(AAG;AAG)
Significance Pathogenic
Disease Cataract not provided
Variation info
Gene BFSP2-AS1 BFSP2
CLNDBN Cataract, autosomal dominant, multiple types 1 not provided
Reversed 0
HGVS NC_000003.11:g.133167457_133167459delGAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006962.4, RCV000056968.1,