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: rs1043679457
rs1043679457
ERCC8
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518934
rs1057518934
HERC2
8 0.851 0.240 15 28211095 frameshift variant G/- delins 0.700 0
dbSNP: rs1564069651
rs1564069651
AGTPBP1
2 1.000 9 85619123 missense variant T/C snv 0.700 0
dbSNP: rs1564069807
rs1564069807
AGTPBP1
3 0.925 0.040 9 85619213 splice donor variant A/C snv 0.700 0
dbSNP: rs797045074
rs797045074
TUBB4A
7 0.882 0.120 19 6495335 missense variant C/G;T snv 0.700 0