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: rs1567368243
rs1567368243
SIN3A
9 0.882 0.040 15 75411651 frameshift variant -/T delins 0.700 1.000 1 2019 2019
dbSNP: rs1032242817
rs1032242817
DHCR7
17 0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs121913378
rs121913378
BRAF
11 0.776 0.280 7 140753337 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs138659167
rs138659167
DHCR7
20 0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 0.700 0
dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs1566785444
rs1566785444
IRF2BPL
20 0.827 0.200 14 77025671 frameshift variant C/- delins 0.700 0
dbSNP: rs1569301036
rs1569301036
TAF1
17 0.827 0.240 X 71397354 missense variant C/T snv 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0
dbSNP: rs913477149
rs913477149
RFT1
13 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0