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: rs1035448844
rs1035448844
SLITRK1
1 1.000 0.040 13 83879757 missense variant C/T snv 3.2E-05 1.4E-05 0.700 0
dbSNP: rs1085307845
rs1085307845
PHIP
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1368546312
rs1368546312
SLITRK1
1 1.000 0.040 13 83879731 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs193302861
rs193302861
SLITRK1
2 0.925 0.120 13 83880244 frameshift variant G/- delins 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs11583978
rs11583978
DLGAP3
2 0.925 0.040 1 34864921 downstream gene variant A/C;G snv 0.010 1.000 1 2011 2011