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: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1569324457
rs1569324457
ASXL1
7 0.851 0.280 20 32433481 frameshift variant AG/- del 0.700 0
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.700 0
dbSNP: rs730882246
rs730882246
NPC2 ; ISCA2
8 0.807 0.200 14 74494329 missense variant G/A snv 0.700 0
dbSNP: rs1800796
rs1800796
IL6 ; STEAP1B ; IL6-AS1
74 0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs2069837
rs2069837
IL6 ; IL6-AS1
18 0.724 0.520 7 22728408 intron variant A/C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs3782219
rs3782219
NOS1
1 1.000 0.080 12 117350435 intron variant C/T snv 0.17 0.010 1.000 1 2018 2018