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rs121918427

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918427(C;T)
Make rs121918427(T;T)
ReferenceGRCh38 38.1/142
Chromosome19
Position49061382
GeneNTF4
is asnp
is mentioned by
dbSNPrs121918427
dbSNP (classic)rs121918427
ClinGenrs121918427
ebirs121918427
HLIrs121918427
Exacrs121918427
Gnomadrs121918427
Varsomers121918427
LitVarrs121918427
Maprs121918427
PheGenIrs121918427
Biobankrs121918427
1000 genomesrs121918427
hgdprs121918427
ensemblrs121918427
geneviewrs121918427
scholarrs121918427
googlers121918427
pharmgkbrs121918427
gwascentralrs121918427
openSNPrs121918427
23andMers121918427
SNPshotrs121918427
SNPdbers121918427
MSV3drs121918427
GWAS Ctlgrs121918427
Max Magnitude0
OMIM162662
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918427(T;T)
Alt rs121918427(T;T)
Reference Rs121918427(C;C)
Significance Pathogenic
Disease Glaucoma 1
Variation info
Gene NTF4
CLNDBN Glaucoma 1, open angle, O
Reversed 1
HGVS NC_000019.9:g.49564639G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000015061.21,