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: rs148634289
rs148634289
SDHD
0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.010 1.000 1 2014 2014