Source: CLINVAR ×
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: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 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: rs751569508
rs751569508
NCOR1
5 1.000 17 16194473 missense variant G/A snv 2.5E-05 1.4E-05 0.700 0
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039802
rs886039802
BBS4
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0