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: rs1488808726
rs1488808726
MACF1
1 1.000 0.080 1 39451086 missense variant G/C snv 0.700 1.000 1 2018 2018
dbSNP: rs1064796460
rs1064796460
TUBA1A
8 0.790 0.400 12 49185197 missense variant C/G;T snv 0.700 0
dbSNP: rs387907196
rs387907196
EXOSC3
12 0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 0.700 0
dbSNP: rs587776650
rs587776650
NBN
11 0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04 0.700 0
dbSNP: rs61752129
rs61752129
PEX26
14 0.776 0.240 22 18078405 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs730882212
rs730882212
TUBA3E
4 0.851 0.120 2 130194199 missense variant G/A snv 7.2E-05; 4.0E-06 4.2E-05 0.700 0
dbSNP: rs797045005
rs797045005
TUBA1A
4 0.851 0.320 12 49185140 missense variant A/G snv 0.700 0
dbSNP: rs1017790646
rs1017790646
ARX
1 1.000 0.080 X 25013333 missense variant G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs587777034
rs587777034
KIF2A ; DIMT1
3 0.882 0.120 5 62361319 missense variant G/A snv 0.010 1.000 1 2017 2017