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rs786205249

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs786205249(-;-)
Make rs786205249(-;AG)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position67458631
GeneCABP4
is asnp
is mentioned by
dbSNPrs786205249
dbSNP (classic)rs786205249
ClinGenrs786205249
ebirs786205249
HLIrs786205249
Exacrs786205249
Gnomadrs786205249
Varsomers786205249
LitVarrs786205249
Maprs786205249
PheGenIrs786205249
Biobankrs786205249
1000 genomesrs786205249
hgdprs786205249
ensemblrs786205249
geneviewrs786205249
scholarrs786205249
googlers786205249
pharmgkbrs786205249
gwascentralrs786205249
openSNPrs786205249
23andMers786205249
SNPshotrs786205249
SNPdbers786205249
MSV3drs786205249
GWAS Ctlgrs786205249
Max Magnitude0
ClinVar
Risk rs786205249(-;-)
Alt rs786205249(-;-)
Reference Rs786205249(AG;AG)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene CABP4
CLNDBN Congenital stationary night blindness, type 2B
Reversed 0
HGVS NC_000011.9:g.67226102_67226103delAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002029.3,