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: rs1014959895
rs1014959895
PRMT7
16 0.763 0.360 16 68329105 stop gained G/C;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs1057518799
rs1057518799
POGZ
7 0.925 0.080 1 151430715 frameshift variant -/GATTGGCA delins 0.700 0
dbSNP: rs1057519335
rs1057519335
NPR2
5 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
dbSNP: rs1251713297
rs1251713297
PRMT7
15 0.776 0.360 16 68355785 stop gained C/A snv 8.1E-06 0.700 0
dbSNP: rs1272546759
rs1272546759
GNAS
4 0.925 0.120 20 58909718 missense variant C/G;T snv 7.0E-06 0.700 0
dbSNP: rs769540174
rs769540174
CHST3
4 1.000 0.080 10 72007559 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs771866012
rs771866012
CHST3
8 0.882 0.080 10 72007522 missense variant C/G;T snv 4.2E-06; 4.2E-06 0.700 0