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rs786205063

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
(TCTC;TCTC) 0 common in clinvar
Make rs786205063(-;-)
Make rs786205063(-;TCTC)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position146018373
GeneHFE2
is asnp
is mentioned by
dbSNPrs786205063
dbSNP (classic)rs786205063
ClinGenrs786205063
ebirs786205063
HLIrs786205063
Exacrs786205063
Gnomadrs786205063
Varsomers786205063
LitVarrs786205063
Maprs786205063
PheGenIrs786205063
Biobankrs786205063
1000 genomesrs786205063
hgdprs786205063
ensemblrs786205063
geneviewrs786205063
scholarrs786205063
googlers786205063
pharmgkbrs786205063
gwascentralrs786205063
openSNPrs786205063
23andMers786205063
SNPshotrs786205063
SNPdbers786205063
MSV3drs786205063
GWAS Ctlgrs786205063
Max Magnitude0
ClinVar
Risk rs786205063(-;-)
Alt rs786205063(-;-)
Reference Rs786205063(CTCT;CTCT)
Significance Pathogenic
Disease Hemochromatosis type 2A
Variation info
Gene HFE2
CLNDBN Hemochromatosis type 2A
Reversed 0
HGVS NC_000001.10:g.145416637_145416640delTCTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002470.4,