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rs797044498

From SNPedia

ClinVar
Risk
Alt
Reference Rs797044498(CA;CA)
Significance Pathogenic
Disease Fabry disease
Variation info
Gene RPL36A-HNRNPH2 GLA
CLNDBN Fabry disease
Reversed 1
HGVS NC_000023.10:g.100653557_100653558delTG
CLNSRC HGMD
CLNACC RCV000153317.5,