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: rs1553920379
rs1553920379
PPP3CA
27 0.776 0.160 4 101032294 frameshift variant -/AGTA delins 0.700 0
dbSNP: rs1553511224
rs1553511224
TBR1
10 0.882 0.080 2 161423825 frameshift variant -/C delins 0.700 0
dbSNP: rs1569146993
rs1569146993
TCF20
5 0.851 0.320 22 42211700 frameshift variant -/C delins 0.700 0
dbSNP: rs1555639411
rs1555639411
BPTF
10 0.790 0.360 17 67894102 frameshift variant -/G delins 0.700 1.000 1 2017 2017
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
8 0.882 0.200 3 48466711 frameshift variant -/G delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1555043939
rs1555043939
KMT2A
9 0.851 0.240 11 118496323 frameshift variant -/G delins 0.700 0
dbSNP: rs1561498701
rs1561498701
SMN1 ; SMN2
5 1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 0.700 1.000 1 2013 2013
dbSNP: rs1562203136
rs1562203136
PHIP
9 0.882 0.120 6 79042902 frameshift variant -/T ins 0.700 0
dbSNP: rs1554558365
rs1554558365
TMEM67
4 0.925 0.120 8 93804851 inframe insertion -/TATGAA delins 0.700 0
dbSNP: rs775835429
rs775835429
SLC19A3
4 0.925 0.040 2 227702236 frameshift variant -/TC delins 2.4E-05 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs1555639076
rs1555639076
BPTF
16 0.790 0.400 17 67893677 splice donor variant A/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs794727931
rs794727931
ALG8
19 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
dbSNP: rs1057524157
rs1057524157
DEAF1
19 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
dbSNP: rs145999922
rs145999922
SLC19A3
5 0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs1057519443
rs1057519443
MPP4
7 0.882 0.200 2 201675255 missense variant A/G snv 0.700 0
dbSNP: rs12720458
rs12720458
KCNQ1
20 0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1555497604
rs1555497604
COG7
10 0.851 0.240 16 23452993 start lost A/G snv 0.700 0
dbSNP: rs80338945
rs80338945
GJB2
32 0.695 0.440 13 20189313 missense variant A/G snv 6.4E-04 6.4E-04 0.700 0
dbSNP: rs749895856
rs749895856
CPT2
8 0.925 0.160 1 53211110 missense variant A/G;T snv 1.2E-05; 4.0E-05 0.700 0
dbSNP: rs1553525325
rs1553525325
SCN1A ; SCN1A-AS1 ; LOC102724058
9 0.807 0.120 2 166002716 missense variant A/T snv 0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs878855331
rs878855331
TPP1
5 0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 0.700 0