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: rs730882210
rs730882210
MATN4
6 0.827 0.280 20 45304356 missense variant C/G snv 0.700 0
dbSNP: rs758022116
rs758022116
RALGAPB
13 0.790 0.280 20 38535152 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs886040961
rs886040961
AVPR2
2 0.925 0.120 X 153906575 frameshift variant C/- delins 0.700 0