rs1057523157, SETD2

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0
LUSCAN-LUMISH SYNDROME
CUI: C4085873
Disease: LUSCAN-LUMISH SYNDROME
8 0.925 0.120 3 47088172 missense variant G/A snv 0.700 0