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rs386834241

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386834241(-;-)
Make rs386834241(-;A)
Make rs386834241(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position88429395
GeneSPATA7
is asnp
is mentioned by
dbSNPrs386834241
ebirs386834241
HLIrs386834241
Exacrs386834241
Varsomers386834241
Maprs386834241
PheGenIrs386834241
hapmaprs386834241
1000 genomesrs386834241
hgdprs386834241
ensemblrs386834241
gopubmedrs386834241
geneviewrs386834241
scholarrs386834241
googlers386834241
pharmgkbrs386834241
gwascentralrs386834241
openSNPrs386834241
23andMers386834241
23andMe allrs386834241
SNP Nexus

SNPshotrs386834241
SNPdbers386834241
MSV3drs386834241
GWAS Ctlgrs386834241
Max Magnitude0
ClinVar
Risk rs386834241(A;A)
Alt rs386834241(A;A)
Reference rs386834241(;)
Significance Pathogenic
Disease Leber congenital amaurosis 3
Variation info
Gene SPATA7
CLNDBN Leber congenital amaurosis 3
Reversed 0
HGVS NC_000014.8:g.88895739dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001461.4,