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: rs17278665
rs17278665
EFEMP1 ; LOC112268416
1 1.000 0.040 2 55868859 intron variant C/G snv 0.13 0.700 1.000 1 2017 2017
dbSNP: rs2030136
rs2030136
SKAP2
1 1.000 0.040 7 26851397 intron variant T/C snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs727139
rs727139
KCNH8
1 1.000 0.040 3 19293203 intron variant A/G snv 0.13 0.700 1.000 1 2017 2017