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rs794728629

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728629(C;C)
Make rs794728629(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position64804817
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs794728629
dbSNP (classic)rs794728629
ClinGenrs794728629
ebirs794728629
HLIrs794728629
Exacrs794728629
Gnomadrs794728629
Varsomers794728629
LitVarrs794728629
Maprs794728629
PheGenIrs794728629
Biobankrs794728629
1000 genomesrs794728629
hgdprs794728629
ensemblrs794728629
geneviewrs794728629
scholarrs794728629
googlers794728629
pharmgkbrs794728629
gwascentralrs794728629
openSNPrs794728629
23andMers794728629
SNPshotrs794728629
SNPdbers794728629
MSV3drs794728629
GWAS Ctlgrs794728629
Max Magnitude0
ClinVar
Risk rs794728629(A;A) rs794728629(C;C)
Alt rs794728629(A;A) rs794728629(C;C)
Reference Rs794728629(G;G)
Significance Probable-Pathogenic
Disease Multiple endocrine neoplasia
Variation info
Gene MAP4K2 MEN1
CLNDBN Multiple endocrine neoplasia, type 1
Reversed 1
HGVS NC_000011.9:g.64572289C>T
CLNSRC
CLNACC RCV000227993.1,