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: rs1560165127
rs1560165127
NKX3-2
2 0.925 0.080 4 13542487 frameshift variant TG/- del 0.700 1.000 1 2019 2019
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs183758503
rs183758503
SPAG17
5 0.851 0.160 1 118093260 missense variant C/G;T snv 2.0E-04; 1.2E-05 0.700 0
dbSNP: rs200140363
rs200140363
WDR35
5 0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs373730800
rs373730800
SBDS ; TYW1
4 0.925 7 66995320 missense variant T/C;G snv 6.0E-05 0.700 0
dbSNP: rs672601337
rs672601337
BHLHA9
3 0.882 0.080 17 1270774 missense variant A/G snv 0.700 0
dbSNP: rs672601338
rs672601338
BHLHA9
3 0.882 0.080 17 1270781 missense variant G/C snv 7.0E-06 0.700 0
dbSNP: rs672601339
rs672601339
BHLHA9
3 0.882 0.080 17 1270787 missense variant G/T snv 0.700 0
dbSNP: rs730882202
rs730882202
CACNA1G
4 0.925 0.160 17 50571953 inframe deletion TTC/- delins 0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs104894378
rs104894378
TBX5
6 0.882 0.120 12 114385521 missense variant C/G;T snv 0.010 1.000 1 1999 1999
dbSNP: rs104894381
rs104894381
TBX5
5 0.925 0.120 12 114401830 missense variant C/T snv 0.010 1.000 1 1999 1999
dbSNP: rs121434597
rs121434597
PTH1R
4 0.851 0.120 3 46898691 missense variant A/G snv 0.010 1.000 1 2020 2020
dbSNP: rs121913105
rs121913105
FGFR3
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.010 1.000 1 2017 2017
dbSNP: rs786204848
rs786204848
DDX58
4 0.882 0.040 9 32488884 missense variant C/A snv 0.010 1.000 1 2015 2015