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rs397514518(C;T)
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carrier of a spinal muscular atrophy disease allele
Is a
genotype
of
rs397514518
Gene
SMN1
Chromosome
5
Position
70,942,472
mentioned
by
Magnitude
3
Repute
Bad
Geno
Mag
Summary
(C;T)
3
carrier of a spinal muscular atrophy disease allele
(T;T)
0
common in clinvar
see discussion at
SMN1
Category
:
Is a genotype
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