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rs104894911

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894911(C;C)
Make rs104894911(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position41473755
GeneNYX
is asnp
is mentioned by
dbSNPrs104894911
dbSNP (classic)rs104894911
ClinGenrs104894911
ebirs104894911
HLIrs104894911
Exacrs104894911
Gnomadrs104894911
Varsomers104894911
LitVarrs104894911
Maprs104894911
PheGenIrs104894911
Biobankrs104894911
1000 genomesrs104894911
hgdprs104894911
ensemblrs104894911
geneviewrs104894911
scholarrs104894911
googlers104894911
pharmgkbrs104894911
gwascentralrs104894911
openSNPrs104894911
23andMers104894911
SNPshotrs104894911
SNPdbers104894911
MSV3drs104894911
GWAS Ctlgrs104894911
Max Magnitude0
OMIM300278
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104894911(C;C)
Alt rs104894911(C;C)
Reference Rs104894911(T;T)
Significance Pathogenic
Disease Congenital stationary night blindness
Variation info
Gene NYX
CLNDBN Congenital stationary night blindness, type 1A
Reversed 0
HGVS NC_000023.10:g.41333008T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012178.2,