Source: CURATED ×
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: rs1135401778
rs1135401778
BPTF
20 0.752 0.400 17 67854315 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs587783070
rs587783070
IARS2
3 0.925 0.040 1 220143109 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057518802
rs1057518802
SLC19A1 ; COL18A1
4 0.882 0.080 21 45509554 stop gained C/T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1303044966
rs1303044966
ABHD12
4 0.882 0.160 20 25339294 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1339616347
rs1339616347
WRN
6 0.925 0.120 8 31068328 splice donor variant G/T snv 0.700 0
dbSNP: rs142285818
rs142285818
RHO
11 0.807 0.120 3 129532727 missense variant C/G;T snv 9.7E-04 4.1E-04 0.700 0
dbSNP: rs1423415130
rs1423415130
XYLT2
6 0.851 0.120 17 50360241 missense variant G/A snv 7.0E-06 0.700 0
dbSNP: rs1554781700
rs1554781700
COL5A1
12 0.851 0.240 9 134701287 missense variant G/T snv 0.700 0
dbSNP: rs1568480054
rs1568480054
LIM2
2 0.925 0.200 19 51380577 missense variant G/A snv 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs765919785
rs765919785
COL18A1 ; MIR6815
4 0.882 0.080 21 45477409 splice acceptor variant A/G snv 8.2E-06 2.8E-05 0.700 0
dbSNP: rs863225045
rs863225045
ALDH18A1
15 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0