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rs41295774

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs41295774(A;G)
Make rs41295774(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position133757854
GeneTF
is asnp
is mentioned by
dbSNPrs41295774
dbSNP (classic)rs41295774
ClinGenrs41295774
ebirs41295774
HLIrs41295774
Exacrs41295774
Gnomadrs41295774
Varsomers41295774
LitVarrs41295774
Maprs41295774
PheGenIrs41295774
Biobankrs41295774
1000 genomesrs41295774
hgdprs41295774
ensemblrs41295774
geneviewrs41295774
scholarrs41295774
googlers41295774
pharmgkbrs41295774
gwascentralrs41295774
openSNPrs41295774
23andMers41295774
SNPshotrs41295774
SNPdbers41295774
MSV3drs41295774
GWAS Ctlgrs41295774
GMAF0.00551
Max Magnitude0
OMIM190000
Desc
Variant0002
Relatedalso
ClinVar
Risk rs41295774(G;G)
Alt rs41295774(G;G)
Reference Rs41295774(A;A)
Significance Pathogenic
Disease Transferrin variant chi Atransferrinemia
Variation info
Gene TF
CLNDBN Transferrin variant chi Atransferrinemia
Reversed 0
HGVS NC_000003.11:g.133476698A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013449.24, RCV000390823.1,