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: rs886037931
rs886037931
PYCR2
2 1.000 1 225921209 stop gained G/A snv 8.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs1057521927
rs1057521927
PRUNE1
2 1.000 1 151017860 missense variant G/A snv 0.700 0
dbSNP: rs1060499751
rs1060499751
SNAPIN
1 1 153659157 missense variant C/T snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 1 113900063 missense variant A/G snv 0.700 0
dbSNP: rs138686233
rs138686233
ASTN1
1 1 176945951 missense variant C/G;T snv 4.2E-04 0.700 0
dbSNP: rs139912214
rs139912214
STIL
1 1 47281003 missense variant C/G snv 2.2E-03 1.9E-03 0.700 0
dbSNP: rs1553196101
rs1553196101
CDC42
8 0.925 0.080 1 22086507 missense variant T/C snv 0.700 0
dbSNP: rs1553196134
rs1553196134
CDC42
6 0.925 0.080 1 22086856 missense variant C/T snv 0.700 0
dbSNP: rs1557714302
rs1557714302
PPT1
3 0.925 0.120 1 40092486 stop gained A/C snv 0.700 0
dbSNP: rs1557966012
rs1557966012
ASPM
2 1.000 0.120 1 197143564 frameshift variant C/- del 0.700 0
dbSNP: rs200618384
rs200618384
PRUNE1
2 1.000 1 151024795 stop gained G/C;T snv 0.700 0
dbSNP: rs369348360
rs369348360
STIL
1 1 47282367 missense variant C/G snv 2.0E-05 2.1E-05 0.700 0
dbSNP: rs374879755
rs374879755
MXRA8
1 1 1353913 missense variant A/G;T snv 1.2E-05 0.700 0
dbSNP: rs767769359
rs767769359
PRUNE1
2 1.000 1 151024658 missense variant G/A;C;T snv 2.0E-05; 8.0E-06 0.700 0
dbSNP: rs772050241
rs772050241
ASPM
2 1.000 0.120 1 197104402 stop gained G/A snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs773618224
rs773618224
PRUNE1
2 1.000 1 151018650 missense variant G/A snv 5.2E-05 2.8E-05 0.700 0
dbSNP: rs1060499770
rs1060499770
ZEB2
1 2 144429823 frameshift variant ACCCTCC/- delins 0.700 0
dbSNP: rs1060499772
rs1060499772
DARS1
1 2 135943412 missense variant C/G snv 0.700 0
dbSNP: rs1445957469
rs1445957469
TMEM237
2 1.000 2 201639047 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1559122277
rs1559122277
BBS5
2 1.000 2 169488115 splice donor variant G/T snv 0.700 0
dbSNP: rs972221242
rs972221242
TMEM237
2 1.000 2 201632186 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs1060499777
rs1060499777
NGLY1
1 3 25764244 missense variant A/C snv 0.700 0
dbSNP: rs780333963
rs780333963
OPA1
2 1.000 0.160 3 193637279 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs1060499735
rs1060499735
CPLX1 ; LOC105374339
2 1.000 4 786584 stop gained C/A snv 0.700 0