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rs3741040

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs3741040(C;T)
Make rs3741040(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position10500245
GeneAMPD3
is asnp
is mentioned by
dbSNPrs3741040
ebirs3741040
HLIrs3741040
Exacrs3741040
Varsomers3741040
Maprs3741040
PheGenIrs3741040
hapmaprs3741040
1000 genomesrs3741040
hgdprs3741040
ensemblrs3741040
gopubmedrs3741040
geneviewrs3741040
scholarrs3741040
googlers3741040
pharmgkbrs3741040
gwascentralrs3741040
openSNPrs3741040
23andMers3741040
23andMe allrs3741040
SNP Nexus

SNPshotrs3741040
SNPdbers3741040
MSV3drs3741040
GWAS Ctlgrs3741040
GMAF0.0004591
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM102772
Desc
Variant0001
Relatedalso


ClinVar
Risk rs3741040(T;T)
Alt rs3741040(T;T)
Reference rs3741040(C;C)
Significance Other
Disease Erythrocyte AMP deaminase deficiency
Variation info
Gene AMPD3
CLNDBN Erythrocyte AMP deaminase deficiency
Reversed 0
HGVS NC_000011.9:g.10521792C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019932.28,