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: rs16944244
rs16944244 		1 1.000 0.040 17 11123376 intergenic variant C/G snv 4.2E-02 0.700 1.000 1 2018 2018
dbSNP: rs4308942
rs4308942
LOC105378641
1 1.000 0.040 1 34635035 intergenic variant G/A snv 6.3E-02 0.700 1.000 1 2018 2018
dbSNP: rs58331610
rs58331610
MAST4
1 1.000 0.040 5 66724629 intron variant A/G snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs6546997
rs6546997 		1 1.000 0.040 2 75431654 regulatory region variant T/C snv 0.87 0.700 1.000 1 2018 2018
dbSNP: rs6958716
rs6958716
KIAA1324L
1 1.000 0.040 7 86965067 intron variant T/C snv 4.6E-02 6.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs6978155
rs6978155
GRM3
1 1.000 0.040 7 86848578 intron variant T/A snv 7.7E-02 0.700 1.000 1 2018 2018
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0