Rs104894847

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894847(C;C)
Make rs104894847(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407846
GeneGLA, HNRNPH2
is asnp
is mentioned by
dbSNPrs104894847
Exacrs104894847
PheGenIrs104894847
nextbiors104894847
hapmaprs104894847
1000 genomesrs104894847
hgdprs104894847
ensemblrs104894847
gopubmedrs104894847
geneviewrs104894847
scholarrs104894847
googlers104894847
pharmgkbrs104894847
gwascentralrs104894847
openSNPrs104894847
23andMers104894847
23andMe allrs104894847
SNP Nexus

SNPshotrs104894847
SNPdbers104894847
MSV3drs104894847
Max Magnitude0
OMIM300644
Desc
Variant0052
Relatedalso
ClinVar
Risk rs104894847(C;C)
Alt rs104894847(C;C)
Reference rs104894847(G;G)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN Fabry disease, cardiac variant
Reversed 1
HGVS NC_000023.10:g.100662834C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011511.1,