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rs1957948

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1957948(A;A)
Make rs1957948(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position65075911
GeneMAX
is asnp
is mentioned by
dbSNPrs1957948
dbSNP (classic)rs1957948
ClinGenrs1957948
ebirs1957948
HLIrs1957948
Exacrs1957948
Gnomadrs1957948
Varsomers1957948
LitVarrs1957948
Maprs1957948
PheGenIrs1957948
Biobankrs1957948
1000 genomesrs1957948
hgdprs1957948
ensemblrs1957948
geneviewrs1957948
scholarrs1957948
googlers1957948
pharmgkbrs1957948
gwascentralrs1957948
openSNPrs1957948
23andMers1957948
SNPshotrs1957948
SNPdbers1957948
MSV3drs1957948
GWAS Ctlgrs1957948
GMAF0.4614
Max Magnitude0
? (A;A) (A;G) (G;G) 28


[PMID 23743562] MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours


ClinVar
Risk rs1957948(A;A)
Alt rs1957948(A;A)
Reference Rs1957948(G;G)
Significance Non-pathogenic
Disease Pheochromocytoma
Variation info
Gene MAX
CLNDBN Pheochromocytoma
Reversed 1
HGVS NC_000014.8:g.65542629C>T
CLNSRC
CLNACC RCV000370674.1,