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rs541217363

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs541217363(C;T)
Make rs541217363(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome9
Position27180259
GeneTEK
is asnp
is mentioned by
dbSNPrs541217363
dbSNP (classic)rs541217363
ClinGenrs541217363
ebirs541217363
HLIrs541217363
Exacrs541217363
Gnomadrs541217363
Varsomers541217363
LitVarrs541217363
Maprs541217363
PheGenIrs541217363
Biobankrs541217363
1000 genomesrs541217363
hgdprs541217363
ensemblrs541217363
geneviewrs541217363
scholarrs541217363
googlers541217363
pharmgkbrs541217363
gwascentralrs541217363
openSNPrs541217363
23andMers541217363
SNPshotrs541217363
SNPdbers541217363
MSV3drs541217363
GWAS Ctlgrs541217363
Max Magnitude0
ClinVar
Risk rs541217363(A;A) rs541217363(T;T)
Alt rs541217363(A;A) rs541217363(T;T)
Reference Rs541217363(C;C)
Significance Pathogenic
Disease Glaucoma 3
Variation info
Gene TEK
CLNDBN Glaucoma 3, primary congenital, E
Reversed 0
HGVS NC_000009.11:g.27180257C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415569.1,