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rs864309522

From SNPedia

ClinVar
Risk rs864309522(;)
Alt rs864309522(;)
Reference rs864309522(ATC;ATC)
Significance Pathogenic
Disease Stomatin-deficient cryohydrocytosis with neurologic defects
Variation info
Gene SLC2A1
CLNDBN Stomatin-deficient cryohydrocytosis with neurologic defects
Reversed 1
HGVS NC_000001.10:g.43392883_43392885delGAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000202573.1,