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i5012660

From SNPedia
23andMe dataI5012660
23andMe searchI5012660
opensnpI5012660
Gene (via rs)BCS1L, ZNF142
iGeno Mag Summary
(A;A) 0 normal
(A;G) 4 Gracile Syndrome carrier
(G;G) 5 Gracile Syndrome

aliasrs28937590
Rs_StabilizedOrientationplus
RsGeno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3 carrier for a GRACILE syndrome mutation
(G;G) 8 GRACILE syndrome

GRACILE syndrome is a very rare metabolic disorder that affects newborn infants of Finnish ancestry.

rs28937590