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: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1553546045
rs1553546045
PTH2R
5 0.925 0.200 2 208442425 missense variant C/T snv 0.700 0
dbSNP: rs80356474
rs80356474
SCN9A ; SCN1A-AS1
4 0.925 0.040 2 166277281 missense variant A/G snv 0.700 0