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: rs372445155
rs372445155
NPC1
7 0.851 0.280 18 23554890 missense variant G/A snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs80358257
rs80358257
NPC1
8 0.827 0.280 18 23538564 missense variant G/C snv 1.2E-04 2.1E-04 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs12425451
rs12425451 		3 0.882 0.080 12 3055757 TF binding site variant C/T snv 0.54 0.010 1.000 1 2013 2013
dbSNP: rs2859998
rs2859998
UBXN2B
4 0.882 0.080 8 58411603 intron variant G/A snv 0.30 0.010 1.000 1 2013 2013