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rs104894263

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5.8 Multiple Endocrine Neoplasia Type 1
Make rs104894263(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64809695
GeneMEN1
is asnp
is mentioned by
dbSNPrs104894263
dbSNP (classic)rs104894263
ClinGenrs104894263
ebirs104894263
HLIrs104894263
Exacrs104894263
Gnomadrs104894263
Varsomers104894263
LitVarrs104894263
Maprs104894263
PheGenIrs104894263
Biobankrs104894263
1000 genomesrs104894263
hgdprs104894263
ensemblrs104894263
geneviewrs104894263
scholarrs104894263
googlers104894263
pharmgkbrs104894263
gwascentralrs104894263
openSNPrs104894263
23andMers104894263
SNPshotrs104894263
SNPdbers104894263
MSV3drs104894263
GWAS Ctlgrs104894263
Max Magnitude5.8
OMIM131100
Desc
Variant0023
Relatedalso
ClinVar
Risk rs104894263(G;G)
Alt rs104894263(G;G)
Reference Rs104894263(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome
Variation info
Gene MEN1
CLNDBN Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000011.9:g.64577167G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018179.3, RCV000491226.1,