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rs104894264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894264(A;A)
Make rs104894264(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64805132
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs104894264
dbSNP (classic)rs104894264
ClinGenrs104894264
ebirs104894264
HLIrs104894264
Exacrs104894264
Gnomadrs104894264
Varsomers104894264
LitVarrs104894264
Maprs104894264
PheGenIrs104894264
Biobankrs104894264
1000 genomesrs104894264
hgdprs104894264
ensemblrs104894264
geneviewrs104894264
scholarrs104894264
googlers104894264
pharmgkbrs104894264
gwascentralrs104894264
openSNPrs104894264
23andMers104894264
SNPshotrs104894264
SNPdbers104894264
MSV3drs104894264
GWAS Ctlgrs104894264
Max Magnitude0
OMIM131100
Desc
Variant0027
Relatedalso
ClinVar
Risk rs104894264(A;A) rs104894264(C;C) rs104894264(T;T)
Alt rs104894264(A;A) rs104894264(C;C) rs104894264(T;T)
Reference Rs104894264(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Multiple endocrine neoplasia
Variation info
Gene MAP4K2 MEN1
CLNDBN Hereditary cancer-predisposing syndrome not provided Multiple endocrine neoplasia, type 1
Reversed 1
HGVS NC_000011.9:g.64572604C>A; NC_000011.9:g.64572604C>G; NC_000011.9:g.64572604C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000491697.1, RCV000182455.2, RCV000018183.5, RCV000490854.1,