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: rs61750420
rs61750420
PEX1
52 0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 0.700 0
dbSNP: rs1561843914
rs1561843914
ADGRV1
2 1.000 0.200 5 90848817 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: rs1561790371
rs1561790371
ADGRV1
2 1.000 0.200 5 90815669 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: rs1561543496
rs1561543496
ADGRV1
2 1.000 0.200 5 90694641 stop gained G/T snv 0.700 0
dbSNP: rs1561441451
rs1561441451
ADGRV1
2 1.000 0.200 5 90642715 stop gained G/T snv 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: rs751989516
rs751989516
PHC1
2 1.000 12 8932951 synonymous variant C/T snv 0.010 < 0.001 1 2010 2010
dbSNP: rs886039902
rs886039902
ANKRD11
6 0.851 0.360 16 89284130 frameshift variant TTTTT/-;T;TTTT delins 0.700 0
dbSNP: rs878855327
rs878855327
ANKRD11
5 0.925 0.280 16 89279750 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1553904404
rs1553904404
DSPP
2 1.000 0.200 4 87615910 frameshift variant -/C ins 0.700 0
dbSNP: rs1262403457
rs1262403457
NT5E
1 6 85493984 missense variant A/G snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs1554700718
rs1554700718
HNRNPK
59 0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1569280385
rs1569280385
POU3F4
2 1.000 0.160 X 83509299 stop gained G/A snv 0.700 0
dbSNP: rs1569280235
rs1569280235
POU3F4 ; LOC107985635
1 X 83508802 stop gained C/T snv 0.700 0
dbSNP: rs1454033665
rs1454033665
POU3F4 ; LOC107985635
2 1.000 0.160 X 83508494 stop gained G/A snv 0.700 0
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: rs996035812
rs996035812
CEMIP
2 1.000 0.120 15 80925682 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs144446375
rs144446375
CEMIP
2 1.000 0.120 15 80881079 missense variant G/A snv 1.2E-05 4.2E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs368854657
rs368854657
CEMIP
1 15 80881078 missense variant C/T snv 3.6E-05 1.4E-05 0.010 < 0.001 1 2003 2003
dbSNP: rs1445287184
rs1445287184
PTPRQ ; LOC105369867
7 1.000 0.120 12 80670365 stop gained C/T snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1477766714
rs1477766714
OTOGL
2 1.000 12 80339241 stop gained C/G;T snv 0.700 0