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: rs864309488
rs864309488
GMNN
14 0.776 0.440 6 24777296 missense variant A/G snv 0.700 1.000 1 2015 2015
dbSNP: rs878853220
rs878853220
LMNA
6 0.827 0.200 1 156130818 intron variant T/G snv 0.700 1.000 1 2016 2016
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: 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: rs1554236040
rs1554236040
ARID1B
5 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
dbSNP: rs1554438441
rs1554438441
CLCN1
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
dbSNP: rs864321670
rs864321670
ALDH18A1
24 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0