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rs1057519463(-;TTCATGAG)

From SNPedia
Carrier of a Tay-Sachs mutation
Is agenotype
ofrs1057519463
GeneHEXA
Chromosome15
Position72,349,160
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(-;-) 8.8 Tay-Sachs disease (predicted)
(-;TTCATGAG) 3 Carrier of a Tay-Sachs mutation
(TTCATGAG;TTCATGAG) 0 common in clinvar

Unaffected in absence of a second HEXA gene mutation; see discussion at Tay-Sachs disease.