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rs386834243

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386834243(-;-)
Make rs386834243(-;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position88438017
GeneSPATA7
is asnp
is mentioned by
dbSNPrs386834243
ebirs386834243
HLIrs386834243
Exacrs386834243
Varsomers386834243
Maprs386834243
PheGenIrs386834243
hapmaprs386834243
1000 genomesrs386834243
hgdprs386834243
ensemblrs386834243
gopubmedrs386834243
geneviewrs386834243
scholarrs386834243
googlers386834243
pharmgkbrs386834243
gwascentralrs386834243
openSNPrs386834243
23andMers386834243
23andMe allrs386834243
SNP Nexus

SNPshotrs386834243
SNPdbers386834243
MSV3drs386834243
GWAS Ctlgrs386834243
Max Magnitude0
ClinVar
Risk rs386834243(;)
Alt rs386834243(;)
Reference rs386834243(A;A)
Significance Pathogenic
Disease Leber congenital amaurosis 3
Variation info
Gene SPATA7
CLNDBN Leber congenital amaurosis 3
Reversed 0
HGVS NC_000014.8:g.88904361delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001463.4,