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: rs121434618
rs121434618
BCOR
7 0.827 0.200 X 40075092 missense variant G/A;C snv 5.6E-06 0.010 1.000 1 2004 2004
dbSNP: rs1620675
rs1620675
TRNT1 ; CRBN
1 1.000 0.120 3 3151243 intron variant T/G snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs2070744
rs2070744
NOS3
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2016 2016