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: rs1057518731
rs1057518731
SMARCD2
7 0.807 0.280 17 63833908 splice donor variant C/T snv 0.700 0
dbSNP: rs1057518733
rs1057518733
SMARCD2
7 0.807 0.280 17 63837439 splice donor variant A/G snv 0.700 0
dbSNP: rs1555580263
rs1555580263
SMARCD2
6 0.827 0.240 17 63837200 stop gained -/AGGTAGAACCTTATCTGCCATCTTC delins 0.700 0
dbSNP: rs76992529
rs76992529
TTR
36 0.653 0.560 18 31598655 missense variant G/A snv 1.1E-03 4.9E-03 0.700 0
dbSNP: rs601338
rs601338
FUT2 ; LOC105447645
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
dbSNP: rs1131692245
rs1131692245
NPHS1
7 0.925 0.160 19 35844109 missense variant C/T snv 0.700 0
dbSNP: rs2294021
rs2294021
CCDC22
8 0.776 0.280 X 49249149 intron variant T/A;C snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs1057520529
rs1057520529
FOXP3
5 0.851 0.320 X 49251440 missense variant C/T snv 0.700 0