Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
LUSCAN-LUMISH SYNDROME 		0.700 0
dbSNP: rs1057523157
rs1057523157
SETD2
0.925 0.120 3 47088172 missense variant G/A snv
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.700 0