Rs104894848

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894848(C;C)
Make rs104894848(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position101407710
GeneGLA, HNRNPH2
is asnp
is mentioned by
dbSNPrs104894848
Exacrs104894848
PheGenIrs104894848
nextbiors104894848
hapmaprs104894848
1000 genomesrs104894848
hgdprs104894848
ensemblrs104894848
gopubmedrs104894848
geneviewrs104894848
scholarrs104894848
googlers104894848
pharmgkbrs104894848
gwascentralrs104894848
openSNPrs104894848
23andMers104894848
23andMe allrs104894848
SNP Nexus

SNPshotrs104894848
SNPdbers104894848
MSV3drs104894848
Max Magnitude0
OMIM300644
Desc
Variant0054
Relatedalso
ClinVar
Risk rs104894848(C;C)
Alt rs104894848(C;C)
Reference rs104894848(G;G)
Significance Pathogenic
Disease Fabry's disease
Variation info
Gene RPL36A-HNRNPH2 HNRNPH2 GLA
CLNDBN Fabry's disease
Reversed 1
HGVS NC_000023.10:g.100662698C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011513.6,