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: rs1064797102
rs1064797102
OTUD6B ; OTUD6B-AS1
15 0.827 0.120 8 91071136 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1064797103
rs1064797103
OTUD6B
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1131690789
rs1131690789
RBM10
2 1.000 X 47181316 frameshift variant AG/- delins 0.700 0
dbSNP: rs1281877795
rs1281877795
MTIF2
2 1.000 2 55249467 frameshift variant CTTTTTTCACT/- delins 0.700 0
dbSNP: rs1553878198
rs1553878198
RBPJ
2 1.000 4 26406245 missense variant C/G snv 0.700 0
dbSNP: rs1555740650
rs1555740650
PRR12
13 0.807 0.240 19 49596253 stop gained G/T snv 0.700 0
dbSNP: rs1555933969
rs1555933969
USP9X
1 1.000 X 41216161 frameshift variant T/- delins 0.700 0
dbSNP: rs1556024875
rs1556024875
THOC2
4 0.882 0.160 X 123634002 missense variant G/A snv 0.700 0
dbSNP: rs1557189252
rs1557189252
FGD1
2 1.000 X 54465532 missense variant G/A snv 0.700 0
dbSNP: rs368313959
rs368313959
OTUD6B
8 0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 0.700 0
dbSNP: rs397517156
rs397517156
SOS1
4 0.851 0.200 2 39012333 missense variant T/A snv 0.700 0
dbSNP: rs759317757
rs759317757
OTUD6B
12 0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 0.700 0
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039804
rs886039804
TMEM138
4 0.882 0.120 11 61366050 missense variant A/G snv 0.700 0
dbSNP: rs886039807
rs886039807
TMEM231
11 0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 0.700 0
dbSNP: rs5030869
rs5030869
G6PD
4 0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 0.700 1.000 5 1981 2008
dbSNP: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs1487917041
rs1487917041
CSHL1 ; GH1 ; LOC112268204
1 1.000 17 63917839 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs9878928
rs9878928
HESX1
2 0.925 0.080 3 57198476 missense variant T/C snv 1.8E-02 7.4E-02 0.010 1.000 1 2009 2009
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: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs80359388
rs80359388
BRCA2
4 0.882 0.200 13 32337899 frameshift variant TT/-;T delins 0.700 1.000 10 1998 2011
dbSNP: rs80359541
rs80359541
BRCA2
6 0.882 0.200 13 32340183 frameshift variant C/- del 8.0E-06 0.700 1.000 10 1998 2011
dbSNP: rs80359775
rs80359775
BRCA2
3 0.882 0.200 13 32398210 frameshift variant TATG/- delins 0.700 1.000 10 1998 2011
dbSNP: rs606231193
rs606231193
PQBP1
6 0.925 0.080 X 48902391 frameshift variant AGAG/-;AG;AGAGAG delins 0.700 1.000 6 1962 2011