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Gene: SGMS2


SGMS2
sphingomyelin synthase 2
Number of variants
(Including filtered: 246)
Number of CNVs
(Including filtered: )
OMIM
SGMS2
Other
Constraint
from ExAC
Expected
no. variants
Observed
no. variants
Constraint
Metric
Synonymous 50.7 62 z = -0.99
Missense 121.0 99 z = 0.98
LoF 14.6 5 pLI = 0.04
CNV 5.8 2 z = 0.66

Gene summary

(canonical transcript: ENST00000394684)

Mean coverage


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