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: rs1057516048
rs1057516048
NSD1
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs864309486
rs864309486
GMNN
21 0.763 0.320 6 24777262 stop gained A/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1057518879
rs1057518879
PLOD1
19 0.776 0.280 1 11965571 stop gained G/A snv 0.700 0
dbSNP: rs113871094
rs113871094
FBN1
34 0.683 0.320 15 48465820 stop gained G/A snv 0.700 0
dbSNP: rs143044921
rs143044921
FREM2
8 0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 0.700 0
dbSNP: rs1443187318
rs1443187318
AEBP1
14 0.882 0.080 7 44108060 stop gained -/A delins 1.3E-05 0.700 0
dbSNP: rs1562931936
rs1562931936
KMT2E
5 1.000 7 105107527 stop gained C/T snv 0.700 0
dbSNP: rs1568406407
rs1568406407
LTBP4
4 0.925 0.280 19 40611169 stop gained C/T snv 0.700 0
dbSNP: rs1568718508
rs1568718508
RIN2
6 1.000 0.200 20 19992201 frameshift variant -/C delins 0.700 0
dbSNP: rs267607079
rs267607079
SOS1
13 0.776 0.240 2 39022772 missense variant C/A;G snv 0.700 0
dbSNP: rs372359356
rs372359356
FRAS1
3 0.925 0.120 4 78337784 missense variant G/A snv 2.8E-05 3.5E-05 0.700 0
dbSNP: rs397517148
rs397517148
SOS1
27 0.776 0.200 2 39023128 missense variant C/T snv 0.700 0
dbSNP: rs751953529
rs751953529
GNPTAB
6 0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs780263938
rs780263938
GLI3
3 0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 0.700 0
dbSNP: rs868064163
rs868064163
ACTL6A
13 1.000 0.040 3 179586552 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0
dbSNP: rs886040971
rs886040971
TRPS1
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0