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rs786205221

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs786205221(A;A)
Make rs786205221(A;C)
ReferenceGRCh38.p2 38.2/146
Chromosome16
Position79599008
GeneLOC101928230, MAF
is asnp
is mentioned by
dbSNPrs786205221
dbSNP (classic)rs786205221
ClinGenrs786205221
ebirs786205221
HLIrs786205221
Exacrs786205221
Gnomadrs786205221
Varsomers786205221
LitVarrs786205221
Maprs786205221
PheGenIrs786205221
Biobankrs786205221
1000 genomesrs786205221
hgdprs786205221
ensemblrs786205221
geneviewrs786205221
scholarrs786205221
googlers786205221
pharmgkbrs786205221
gwascentralrs786205221
openSNPrs786205221
23andMers786205221
SNPshotrs786205221
SNPdbers786205221
MSV3drs786205221
GWAS Ctlgrs786205221
Max Magnitude0
ClinVar
Risk rs786205221(A;A)
Alt rs786205221(A;A)
Reference Rs786205221(C;C)
Significance Pathogenic
Disease Cataract
Variation info
Gene MAF LOC101928230
CLNDBN Cataract, pulverulent, juvenile-onset
Reversed 1
HGVS NC_000016.9:g.79632905G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000170458.3,