Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554121443
rs1554121443
SYNGAP1 ; MIR5004
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs63751220
rs63751220
GDF6
3 0.882 0.120 8 96145065 missense variant A/G snv 6.4E-05 8.8E-04 0.010 1.000 1 2008 2008