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: rs1057519324
rs1057519324
NPR2
4 0.925 0.080 9 35801153 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs1057519334
rs1057519334
NPR2
7 0.925 0.040 9 35802550 frameshift variant C/- del 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs1057519369
rs1057519369
NF1
13 0.790 0.280 17 31340532 frameshift variant -/G delins 0.700 0
dbSNP: rs1057519370
rs1057519370
NF1
7 0.882 0.120 17 31159091 splice donor variant G/- delins 0.700 0
dbSNP: rs1057519436
rs1057519436
DHX30
7 0.882 0.200 3 47846550 missense variant G/A snv 0.700 0
dbSNP: rs1057519451
rs1057519451
NRXN3 ; LOC105370589
2 1.000 0.120 14 78709310 missense variant A/G snv 1.4E-05 0.700 0
dbSNP: rs1057521737
rs1057521737
EP300
11 0.827 0.240 22 41173768 missense variant T/C snv 0.700 0
dbSNP: rs1060505041
rs1060505041
NACC1
34 0.716 0.400 19 13136099 missense variant C/A;T snv 0.700 0
dbSNP: rs1064796765
rs1064796765
DYNC1H1
19 0.763 0.240 14 102002950 missense variant G/A snv 0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs1085307138
rs1085307138
PUF60 ; SCRIB
9 0.807 0.160 8 143817591 splice donor variant C/T snv 0.700 0
dbSNP: rs1085307139
rs1085307139
PUF60 ; SCRIB
5 0.925 0.040 8 143817380 frameshift variant -/C delins 0.700 0
dbSNP: rs1131691804
rs1131691804
FBN1
8 0.807 0.200 15 48463123 missense variant G/A snv 0.700 0
dbSNP: rs1131692272
rs1131692272
AFF3
9 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
dbSNP: rs113993993
rs113993993
SBDS
9 0.851 0.040 7 66994210 splice donor variant A/C;G snv 4.0E-06; 3.9E-03 0.700 0
dbSNP: rs114925667
rs114925667
UBA5 ; NPHP3-ACAD11
64 0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 0.700 0
dbSNP: rs1158061584
rs1158061584
N4BP2L2
1 13 32443086 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs119103263
rs119103263
MFN2
19 0.827 0.240 1 11992659 missense variant C/T snv 0.700 0
dbSNP: rs119473033
rs119473033
SMARCAL1
11 0.827 0.320 2 216478216 stop gained G/T snv 8.0E-05 1.3E-04 0.700 0
dbSNP: rs120074160
rs120074160
SBDS
7 0.925 7 66994286 stop gained T/A snv 1.7E-04 1.0E-03 0.700 0
dbSNP: rs121434616
rs121434616
CUL4B
6 0.925 0.080 X 120544179 stop gained G/A snv 0.700 0
dbSNP: rs121908216
rs121908216
CACNA1A
7 0.882 0.200 19 13235702 missense variant C/T snv 0.700 0
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121912854
rs121912854
COL7A1
16 0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06 0.700 0