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rs727503490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;G) 6.2 Hereditary PGL/PCC Syndrome
(G;G) 0 common in clinvar


Make rs727503490(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position96254934
GeneTMEM127
is asnp
is mentioned by
dbSNPrs727503490
dbSNP (classic)rs727503490
ClinGenrs727503490
ebirs727503490
HLIrs727503490
Exacrs727503490
Gnomadrs727503490
Varsomers727503490
LitVarrs727503490
Maprs727503490
PheGenIrs727503490
Biobankrs727503490
1000 genomesrs727503490
hgdprs727503490
ensemblrs727503490
geneviewrs727503490
scholarrs727503490
googlers727503490
pharmgkbrs727503490
gwascentralrs727503490
openSNPrs727503490
23andMers727503490
SNPshotrs727503490
SNPdbers727503490
MSV3drs727503490
GWAS Ctlgrs727503490
Max Magnitude6.2
ClinVar
Risk rs727503490(-;-)
Alt rs727503490(-;-)
Reference Rs727503490(G;G)
Significance Probable-Pathogenic
Disease Hereditary Paraganglioma-Pheochromocytoma Syndromes
Variation info
Gene TMEM127
CLNDBN Hereditary Paraganglioma-Pheochromocytoma Syndromes
Reversed 1
HGVS NC_000002.11:g.96920672delC
CLNSRC
CLNACC RCV000152047.2,