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: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs1554411234
rs1554411234
DDC ; FIGNL1
5 1.000 7 50463322 missense variant C/A snv 0.700 0
dbSNP: rs1557055311
rs1557055311
ABCD1
5 0.882 0.200 X 153743220 splice acceptor variant G/A;C snv 0.700 0
dbSNP: rs1563005360
rs1563005360
FLNC ; FLNC-AS1
11 0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins 0.700 0
dbSNP: rs199469465
rs199469465
SRCAP
50 0.672 0.560 16 30737343 stop gained C/A;T snv 0.700 0
dbSNP: rs367814475
rs367814475
IVD
9 0.925 0.080 15 40415482 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs559979281
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 0.700 0
dbSNP: rs771317809
rs771317809
DDC ; FIGNL1
6 0.925 0.080 7 50470140 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs863225422
rs863225422
CLASP1 ; RNU4ATAC ; LOC107985942
23 0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 0.700 0
dbSNP: rs886041091
rs886041091
NTRK2
18 0.807 0.120 9 84751990 missense variant A/G snv 0.700 0