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: rs1193888919
rs1193888919
SASS6
1 1.000 1 100107513 frameshift variant -/T delins 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs1555985372
rs1555985372
PCDH19
2 1.000 X 100407591 frameshift variant -/C delins 0.700 1.000 16 2008 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: rs1555408829
rs1555408829
DYNC1H1
2 1.000 14 101994794 missense variant T/C snv 0.700 1.000 18 1998 2018
dbSNP: rs1553234339
rs1553234339
COL11A1
2 1.000 1 103012412 splice donor variant C/T snv 0.700 1.000 6 1998 2014
dbSNP: rs1554404013
rs1554404013
RELN
1 1.000 7 103697970 stop gained G/T snv 0.700 1.000 9 2000 2015
dbSNP: rs1554404338
rs1554404338
RELN
1 1.000 7 103701000 missense variant C/A snv 0.700 1.000 9 2000 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: rs121909574
rs121909574
TFAP2A ; TFAP2A-AS2
17 0.724 0.400 6 10404509 missense variant T/A;C;G snv 4.6E-06 0.700 1.000 6 1995 2015
dbSNP: rs151344530
rs151344530
TFAP2A ; TFAP2A-AS2
3 0.925 0.040 6 10404511 missense variant C/G;T snv 0.700 1.000 6 1995 2015
dbSNP: rs151344525
rs151344525
TFAP2A ; TFAP2A-AS2
3 0.925 0.040 6 10404562 missense variant C/G;T snv 0.700 1.000 6 1995 2015
dbSNP: rs1553426462
rs1553426462
POU3F3
1 1.000 2 104856496 inframe deletion AGCGGCGCATCAAGC/- delins 0.700 1.000 18 1989 2017
dbSNP: rs587777450
rs587777450
PIEZO2
9 0.790 0.320 18 10671729 missense variant C/T snv 0.700 1.000 9 2007 2017
dbSNP: rs745895175
rs745895175
PIEZO2
1 1.000 18 10680240 frameshift variant G/- delins 1.2E-05 2.8E-05 0.700 1.000 9 2007 2017
dbSNP: rs1555639568
rs1555639568
PIEZO2
1 1.000 18 10758112 frameshift variant A/- del 0.700 1.000 9 2007 2017
dbSNP: rs1556299881
rs1556299881
PRPS1
2 1.000 X 107640900 splice acceptor variant A/G snv 0.700 1.000 12 1993 2015
dbSNP: rs137852540
rs137852540
PRPS1
3 0.925 0.080 X 107640936 missense variant A/G snv 0.700 1.000 12 1993 2015
dbSNP: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 1.000 9 2001 2016
dbSNP: rs780879476
rs780879476
LIG4
2 0.925 0.160 13 108210656 frameshift variant A/- delins 5.6E-05 5.6E-05 0.700 1.000 9 2001 2016
dbSNP: rs1304422857
rs1304422857
UBE3B
3 1.000 12 109511304 splice donor variant G/A;T snv 0.700 1.000 8 2003 2018
dbSNP: rs1555208063
rs1555208063
TRPV4
1 1.000 12 109800629 missense variant T/G snv 0.700 1.000 24 1976 2017
dbSNP: rs672601347
rs672601347
COL4A1
3 0.925 0.120 13 110179298 missense variant C/G;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: rs794726860
rs794726860
SLC6A1
3 0.925 3 11025786 missense variant C/T snv 0.700 1.000 6 1998 2016