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: rs1555985372
rs1555985372
PCDH19
2 1.000 X 100407591 frameshift variant -/C delins 0.700 1.000 16 2008 2017
dbSNP: rs1158141270
rs1158141270
NALCN
3 0.925 13 101061967 splice donor variant C/A snv 4.0E-06 0.700 1.000 9 2013 2017
dbSNP: rs1555373511
rs1555373511
NALCN
1 13 101062119 splice acceptor variant C/G snv 0.700 1.000 9 2013 2017
dbSNP: rs886039763
rs886039763
HNRNPH2 ; RPL36A-HNRNPH2
3 0.925 X 101412604 missense variant C/T snv 0.700 1.000 3 2014 2016
dbSNP: rs1429181351
rs1429181351
GNPTAB
4 0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 0.700 1.000 9 2005 2016
dbSNP: rs587780564
rs587780564
DYNC1H1
5 0.882 0.080 14 101986017 missense variant C/T snv 0.700 1.000 18 1998 2018
dbSNP: rs1057518776
rs1057518776
DYNC1H1
4 0.925 0.080 14 101986027 missense variant T/A snv 0.700 0
dbSNP: rs1555408829
rs1555408829
DYNC1H1
2 1.000 14 101994794 missense variant T/C snv 0.700 1.000 18 1998 2018
dbSNP: rs1567010427
rs1567010427
DYNC1H1
11 0.882 14 102010824 missense variant G/A snv 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs62514895
rs62514895
PAH
2 1.000 0.120 12 102917066 splice region variant C/A;T snv 7.2E-05 0.700 1.000 17 1993 2015
dbSNP: rs864622194
rs864622194
PLP1 ; RAB9B
3 0.925 0.080 X 103776997 start lost T/C;G snv 0.700 1.000 12 1989 2016
dbSNP: rs1560755661
rs1560755661
TBCK
44 0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 0.700 0
dbSNP: rs374319146
rs374319146
TBCK
6 0.851 0.080 4 106194717 splice donor variant C/A;T snv 4.3E-06; 8.7E-06 0.700 0
dbSNP: rs137852540
rs137852540
PRPS1
3 0.925 0.080 X 107640936 missense variant A/G snv 0.700 1.000 12 1993 2015
dbSNP: rs1304422857
rs1304422857
UBE3B
3 1.000 12 109511304 splice donor variant G/A;T snv 0.700 1.000 8 2003 2018
dbSNP: rs377357931
rs377357931
FIG4
2 1.000 0.080 6 109760253 stop gained C/T snv 3.6E-05 8.4E-05 0.700 1.000 7 1993 2015
dbSNP: rs747768373
rs747768373
FIG4
1 6 109792665 splice donor variant G/A snv 8.0E-06 2.8E-05 0.700 1.000 7 1993 2015
dbSNP: rs387906905
rs387906905
TRPV4
10 0.882 0.120 12 109798819 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1555302454
rs1555302454
COL4A1
1 13 110170615 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1555303010
rs1555303010
COL4A1
2 13 110176450 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1553689580
rs1553689580
SLC6A1
1 3 11025543 missense variant T/C snv 0.700 1.000 6 1998 2016
dbSNP: rs794726860
rs794726860
SLC6A1
3 0.925 3 11025786 missense variant C/T snv 0.700 1.000 6 1998 2016
dbSNP: rs1553690452
rs1553690452
SLC6A1
2 1.000 3 11028845 stop gained C/T snv 0.700 1.000 6 1998 2016