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rs121918428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918428(A;A)
Make rs121918428(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position49061381
GeneNTF4
is asnp
is mentioned by
dbSNPrs121918428
dbSNP (classic)rs121918428
ClinGenrs121918428
ebirs121918428
HLIrs121918428
Exacrs121918428
Gnomadrs121918428
Varsomers121918428
LitVarrs121918428
Maprs121918428
PheGenIrs121918428
Biobankrs121918428
1000 genomesrs121918428
hgdprs121918428
ensemblrs121918428
geneviewrs121918428
scholarrs121918428
googlers121918428
pharmgkbrs121918428
gwascentralrs121918428
openSNPrs121918428
23andMers121918428
SNPshotrs121918428
SNPdbers121918428
MSV3drs121918428
GWAS Ctlgrs121918428
Max Magnitude0
OMIM162662
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918428(A;A)
Alt rs121918428(A;A)
Reference Rs121918428(G;G)
Significance Pathogenic
Disease Glaucoma 1
Variation info
Gene NTF4
CLNDBN Glaucoma 1, open angle, O
Reversed 1
HGVS NC_000019.9:g.49564638C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015062.25,