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rs199422256

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199422256(C;G)
Make rs199422256(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position169765160
GeneTERC
is asnp
is mentioned by
dbSNPrs199422256
dbSNP (classic)rs199422256
ClinGenrs199422256
ebirs199422256
HLIrs199422256
Exacrs199422256
Gnomadrs199422256
Varsomers199422256
LitVarrs199422256
Maprs199422256
PheGenIrs199422256
Biobankrs199422256
1000 genomesrs199422256
hgdprs199422256
ensemblrs199422256
geneviewrs199422256
scholarrs199422256
googlers199422256
pharmgkbrs199422256
gwascentralrs199422256
openSNPrs199422256
23andMers199422256
SNPshotrs199422256
SNPdbers199422256
MSV3drs199422256
GWAS Ctlgrs199422256
Max Magnitude0
ClinVar
Risk rs199422256(G;G)
Alt rs199422256(G;G)
Reference Rs199422256(C;C)
Significance Pathogenic
Disease Paroxysmal nocturnal hemoglobinuria 1
Variation info
Gene TERC
CLNDBN Paroxysmal nocturnal hemoglobinuria 1
Reversed 1
HGVS NC_000003.11:g.169482948G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000034302.2,