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: rs312262830
rs312262830
OFD1
4 0.882 0.160 X 13739017 frameshift variant GAAA/- delins 0.700 1.000 2 2008 2014
dbSNP: rs398122968
rs398122968
TBC1D24
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs869312812
rs869312812
PGAP3
2 1.000 17 39684627 frameshift variant G/-;GG delins 0.700 1.000 2 2016 2018
dbSNP: rs121918104
rs121918104
PSAP
3 0.925 0.120 10 71825892 missense variant C/G snv 0.700 1.000 1 2009 2009
dbSNP: rs587777819
rs587777819
POMT1
3 0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06 0.700 1.000 1 2007 2007
dbSNP: rs1057517295
rs1057517295
VPS13B
2 1.000 0.320 8 99096433 splice donor variant G/A;T snv 0.700 0
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 0
dbSNP: rs1057521927
rs1057521927
PRUNE1
2 1.000 1 151017860 missense variant G/A snv 0.700 0
dbSNP: rs1060499734
rs1060499734
VARS1
2 1.000 6 31780935 missense variant G/A snv 0.700 0
dbSNP: rs1060499735
rs1060499735
CPLX1 ; LOC105374339
2 1.000 4 786584 stop gained C/A snv 0.700 0
dbSNP: rs1060499736
rs1060499736
SMARCA1
1 X 129523364 stop gained G/A snv 0.700 0
dbSNP: rs1060499737
rs1060499737
DHX37
3 12 124968903 missense variant G/T snv 0.700 0
dbSNP: rs1060499742
rs1060499742
ANK3
1 10 60071229 missense variant G/A snv 0.700 0
dbSNP: rs1060499743
rs1060499743
ARHGAP21
1 10 24596030 missense variant A/C snv 0.700 0
dbSNP: rs1060499747
rs1060499747
HELZ
1 17 67128716 missense variant T/C snv 0.700 0
dbSNP: rs1060499748
rs1060499748
KLHL15
1 X 23988262 missense variant C/T snv 0.700 0
dbSNP: rs1060499749
rs1060499749
PTPRT
1 20 42352288 splice region variant G/A snv 0.700 0
dbSNP: rs1060499751
rs1060499751
SNAPIN
1 1 153659157 missense variant C/T snv 0.700 0
dbSNP: rs1060499752
rs1060499752
TTC1 ; PWWP2A
1 5 160064970 missense variant T/G snv 0.700 0
dbSNP: rs1060499753
rs1060499753
UBQLN1
1 9 83683022 frameshift variant T/- delins 0.700 0
dbSNP: rs1060499754
rs1060499754
ULK2
1 17 19797472 missense variant T/C snv 0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
1 5 126577158 missense variant T/C snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499761
rs1060499761
GALC
1 14 87934803 missense variant A/C snv 0.700 0