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: rs886041185
rs886041185
VPS13B
4 0.925 0.320 8 99835295 frameshift variant -/A delins 0.700 1.000 12 1998 2015
dbSNP: rs1554884733
rs1554884733
VPS13B
3 1.000 8 99641974 frameshift variant -/GTCC delins 0.700 1.000 12 1998 2015
dbSNP: rs120074152
rs120074152
VPS13B
3 0.925 0.320 8 99384294 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 12 1998 2015
dbSNP: rs1555384301
rs1555384301
BCL11B
1 1.000 14 99257660 stop gained G/A snv 0.700 1.000 19 2003 2016
dbSNP: rs1314314373
rs1314314373
BCL11B
4 1.000 14 99176115 stop gained G/A;C snv 4.1E-06 0.700 1.000 19 2003 2016
dbSNP: rs1182326570
rs1182326570
FBXL4
3 0.925 6 98926883 stop gained T/A snv 8.0E-06 0.700 1.000 6 1999 2017
dbSNP: rs754142863
rs754142863
FBXL4
3 0.925 6 98899281 missense variant C/A;T snv 1.6E-05 0.700 1.000 6 1999 2017
dbSNP: rs762904815
rs762904815
BRPF1
3 1.000 3 9744394 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 2017 2017
dbSNP: rs1553693712
rs1553693712
BRPF1
2 1.000 3 9734167 frameshift variant TT/- delins 0.700 1.000 2 2017 2017
dbSNP: rs1555447237
rs1555447237
NR2F2
2 1.000 15 96334573 missense variant T/C snv 0.700 1.000 10 1999 2017
dbSNP: rs1555446980
rs1555446980
NR2F2 ; MIR1469
2 1.000 15 96332169 stop gained C/T snv 0.700 1.000 10 1999 2017
dbSNP: rs781768965
rs781768965
PTCH1
3 1.000 9 95508175 stop gained C/A;G snv 4.0E-06 0.700 1.000 13 1996 2016
dbSNP: rs1554708787
rs1554708787
PTCH1
3 1.000 9 95506567 stop gained C/T snv 0.700 1.000 13 1996 2016
dbSNP: rs797044953
rs797044953
SETD5
3 1.000 3 9447684 splice acceptor variant A/T snv 0.700 1.000 26 1995 2018
dbSNP: rs72658127
rs72658127
COL1A2
2 1.000 7 94413139 splice region variant A/G snv 0.700 1.000 16 1979 2018
dbSNP: rs397514481
rs397514481
PLCB4
5 0.882 0.040 20 9409080 missense variant G/A;T snv 0.700 1.000 6 2005 2017
dbSNP: rs201893408
rs201893408
TMEM67
28 0.695 0.480 8 93795970 missense variant T/A;C snv 8.0E-06; 1.5E-04 0.700 1.000 10 1999 2016
dbSNP: rs775883520
rs775883520
TMEM67
6 0.851 0.240 8 93780603 missense variant A/G snv 8.0E-06 7.0E-06 0.700 1.000 10 1999 2016
dbSNP: rs1555445685
rs1555445685
CHD2
1 1.000 15 93014770 frameshift variant CT/- delins 0.700 1.000 12 2007 2017
dbSNP: rs1555445563
rs1555445563
CHD2
1 1.000 15 93012354 missense variant G/T snv 0.700 1.000 12 2007 2017
dbSNP: rs1555440555
rs1555440555
CHD2
2 1.000 15 92953386 missense variant T/C snv 0.700 1.000 12 2007 2017
dbSNP: rs1554863044
rs1554863044
KIF11
1 1.000 10 92648359 frameshift variant TGAA/- delins 0.700 1.000 10 2012 2017
dbSNP: rs748318386
rs748318386
AUH
1 1.000 9 91220824 missense variant G/A;T snv 4.4E-05 0.700 1.000 4 2003 2010
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0