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: rs112795301
rs112795301
FOXP1
13 0.776 0.160 3 70972634 stop gained G/A snv 0.700 0
dbSNP: rs1554691658
rs1554691658
PTCH1
11 0.807 0.240 9 95459653 frameshift variant C/GGGTCCACAACATCT 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: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs886041239
rs886041239
SMC3
9 1.000 0.160 10 110593202 missense variant A/G snv 0.700 0