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: rs113288603
rs113288603 		1 19 40856388 intron variant C/T snv 8.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs7720606
rs7720606 		2 1.000 0.080 5 127216040 intron variant A/G snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs281875330
rs281875330
ACTG1 ; FSCN2
2 1.000 0.120 17 81511626 missense variant T/C snv 0.010 1.000 1 2008 2008
dbSNP: rs281875329
rs281875329
ACTG1 ; FSCN2
3 0.925 0.120 17 81511224 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1561441451
rs1561441451
ADGRV1
2 1.000 0.200 5 90642715 stop gained G/T snv 0.700 0
dbSNP: rs1561543496
rs1561543496
ADGRV1
2 1.000 0.200 5 90694641 stop gained G/T snv 0.700 0
dbSNP: rs1561790371
rs1561790371
ADGRV1
2 1.000 0.200 5 90815669 stop gained G/T snv 0.700 0
dbSNP: rs1561805689
rs1561805689
ADGRV1
2 1.000 0.200 5 90823424 splice acceptor variant G/T snv 0.700 0
dbSNP: rs1561843914
rs1561843914
ADGRV1
2 1.000 0.200 5 90848817 stop gained G/T snv 0.700 0
dbSNP: rs377650415
rs377650415
ADGRV1
2 1.000 0.200 5 90815654 stop gained G/A;T snv 1.4E-05 0.700 0
dbSNP: rs765574676
rs765574676
ADGRV1
1 5 90627593 missense variant C/T snv 2.8E-05 7.0E-06 0.700 0
dbSNP: rs777476179
rs777476179
ALMS1
5 0.851 0.280 2 73448259 frameshift variant A/- del 1.4E-05 0.700 0
dbSNP: rs1057519338
rs1057519338
AMMECR1
8 0.882 X 110264571 stop gained G/A snv 0.700 0
dbSNP: rs765498367
rs765498367
AMMECR1 ; LOC105373312
6 0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 0.700 0
dbSNP: rs1565331646
rs1565331646
ANAPC15 ; LRTOMT
2 1.000 0.120 11 72107947 frameshift variant -/CTCG delins 0.700 0
dbSNP: rs878855327
rs878855327
ANKRD11
5 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs886039902
rs886039902
ANKRD11
6 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
dbSNP: rs387907141
rs387907141
ARID1B
24 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
dbSNP: rs373145711
rs373145711
ASXL1
25 0.732 0.520 20 32433408 stop gained C/T snv 2.0E-05 2.8E-05 0.700 0
dbSNP: rs121908354
rs121908354
CDH23
4 0.882 0.240 10 71570884 missense variant C/T snv 4.0E-05 7.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs1060499791
rs1060499791
CDH23
2 1.000 0.120 10 71617295 missense variant C/T snv 0.700 0
dbSNP: rs1264310782
rs1264310782
CDH23
2 1.000 0.120 10 71799579 missense variant G/A snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1344509500
rs1344509500
CDH23
2 1.000 0.120 10 71810017 stop gained G/T snv 4.1E-06 1.4E-05 0.700 0
dbSNP: rs1390562340
rs1390562340
CDH23
2 1.000 0.120 10 71682520 missense variant A/G snv 0.700 0
dbSNP: rs1554871816
rs1554871816
CDH23
2 1.000 0.120 10 71777711 missense variant A/C snv 0.700 0