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rs376633374

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs376633374(-;-)
Make rs376633374(-;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position81528603
GeneFSCN2
is asnp
is mentioned by
dbSNPrs376633374
dbSNP (classic)rs376633374
ClinGenrs376633374
ebirs376633374
HLIrs376633374
Exacrs376633374
Gnomadrs376633374
Varsomers376633374
LitVarrs376633374
Maprs376633374
PheGenIrs376633374
Biobankrs376633374
1000 genomesrs376633374
hgdprs376633374
ensemblrs376633374
geneviewrs376633374
scholarrs376633374
googlers376633374
pharmgkbrs376633374
gwascentralrs376633374
openSNPrs376633374
23andMers376633374
SNPshotrs376633374
SNPdbers376633374
MSV3drs376633374
GWAS Ctlgrs376633374
Max Magnitude0
ClinVar
Risk rs376633374(-;-)
Alt rs376633374(-;-)
Reference Rs376633374(G;G)
Significance Pathogenic
Disease Retinitis pigmentosa 30 not provided Leber congenital amaurosis Degenerative disorder of macula
Variation info
Gene FSCN2
CLNDBN Retinitis pigmentosa 30 not provided Leber congenital amaurosis Degenerative disorder of macula
Reversed 0
HGVS NC_000017.10:g.79495629delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000003079.3, RCV000132615.1, RCV000144473.1, RCV000412604.1,