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: rs431905509
rs431905509
SLC25A1
8 0.807 0.280 22 19176222 missense variant G/A;C snv 2.0E-05 0.700 0
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 0
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs776587763
rs776587763
FGFR2
7 0.790 0.120 10 121520085 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs797045412
rs797045412
BICD2
17 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
dbSNP: rs869312714
rs869312714
CREBBP
3 0.925 0.120 16 3729810 missense variant C/A snv 0.700 0
dbSNP: rs886039811
rs886039811
B9D1
6 0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs730882225
rs730882225
NID1
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1563406024
rs1563406024
FZD3
4 0.851 0.240 8 28555799 frameshift variant -/A delins 0.700 0
dbSNP: rs730882200
rs730882200
ARFGEF2
3 0.882 0.040 20 48953604 frameshift variant -/C delins 0.700 0
dbSNP: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs730882247
rs730882247
TMEM92
3 0.882 0.040 17 50277743 splice region variant A/G snv 0.700 0