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: rs12613336
rs12613336 		6 2 210704675 regulatory region variant T/C snv 0.19 0.700 1.000 1 2019 2019
dbSNP: rs1744297
rs1744297
ASPG
12 14 104102135 intron variant T/C snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs2657879
rs2657879
GLS2 ; SPRYD4
9 1.000 0.080 12 56471554 missense variant A/G snv 0.17 0.15 0.700 1.000 1 2019 2019
dbSNP: rs7302925
rs7302925
MIP ; SPRYD4
3 12 56467674 intron variant A/G snv 0.69 0.700 1.000 1 2019 2019
dbSNP: rs774211
rs774211
RBMS2
4 12 56527155 intron variant T/C snv 0.12 0.700 1.000 1 2019 2019