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rs1057516640

From SNPedia
ClinVar
Risk rs1057516640(-;-)
Alt rs1057516640(-;-)
Reference Rs1057516640(CGACGAGGCCT;CGACGAGGCCT)
Significance Probable-Pathogenic
Disease Tay-Sachs disease
Variation info
Gene HEXA-AS1 HEXA
CLNDBN Tay-Sachs disease
Reversed 1
HGVS NC_000015.9:g.72668121_72668131delAGGCCTCGTCG
CLNSRC
CLNACC RCV000410519.1,