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rs749553271

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a hemochromatosis variant
Make rs749553271(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome6
Position26092960
GeneHFE, LOC108783645
is asnp
is mentioned by
dbSNPrs749553271
dbSNP (classic)rs749553271
ClinGenrs749553271
ebirs749553271
HLIrs749553271
Exacrs749553271
Gnomadrs749553271
Varsomers749553271
LitVarrs749553271
Maprs749553271
PheGenIrs749553271
Biobankrs749553271
1000 genomesrs749553271
hgdprs749553271
ensemblrs749553271
geneviewrs749553271
scholarrs749553271
googlers749553271
pharmgkbrs749553271
gwascentralrs749553271
openSNPrs749553271
23andMers749553271
23andMe allrs749553271
SNPshotrs749553271
SNPdbers749553271
MSV3drs749553271
GWAS Ctlgrs749553271
Max Magnitude3
ClinVar
Risk rs749553271(T;T)
Alt rs749553271(T;T)
Reference Rs749553271(G;G)
Significance Pathogenic
Disease Hemochromatosis type 1
Variation info
Gene HFE
CLNDBN Hemochromatosis type 1
Reversed 0
HGVS NC_000006.11:g.26093188G>T
CLNSRC
CLNACC RCV000472479.1,