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rs1060499690(A;G)

From SNPedia
Carrier of a mucolipidosis III gamma mutation
Is agenotype
ofrs1060499690
GeneGNPTG
Chromosome16
Position1,362,044
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6.1 Mucolipidosis III gamma
(A;G) 3 Carrier of a mucolipidosis III gamma mutation
(G;G) 0 common/normal

Unaffected in absence of a second mutation in the GNPTG gene; see ClinVar sidebar for links.