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: rs1114167891
rs1114167891
OGT
2 0.925 X 71555312 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs121918524
rs121918524
PHF8
6 0.827 0.200 X 54011232 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs1464216639
rs1464216639
MAN1B1
2 1.000 9 137106289 stop gained G/A snv 6.1E-06 0.010 1.000 1 2011 2011
dbSNP: rs1487917041
rs1487917041
CSHL1 ; GH1 ; LOC112268204
1 1.000 17 63917839 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs80338761
rs80338761
SEPTIN9
4 0.882 0.080 17 77402298 missense variant C/T snv 0.010 1.000 1 2008 2008
dbSNP: rs9878928
rs9878928
HESX1
2 0.925 0.080 3 57198476 missense variant T/C snv 1.8E-02 7.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs1057520918
rs1057520918
CACNA1A
11 0.790 0.160 19 13262780 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs1318353774
rs1318353774
CACNA1A
2 1.000 19 13298827 stop gained G/A;C snv 0.700 1.000 46 1988 2017
dbSNP: rs1555756091
rs1555756091
CACNA1A
1 1.000 19 13298847 frameshift variant -/A ins 0.700 1.000 46 1988 2017
dbSNP: rs886037945
rs886037945
CACNA1A
6 0.827 0.160 19 13303584 missense variant C/T snv 0.700 1.000 46 1988 2017
dbSNP: rs1554767317
rs1554767317
DNM1 ; CIZ1
2 1.000 9 128203604 missense variant G/A snv 0.700 1.000 38 1983 2017
dbSNP: rs1554773487
rs1554773487
DNM1
1 1.000 9 128220205 missense variant G/T snv 0.700 1.000 38 1983 2017
dbSNP: rs147001633
rs147001633
DNMT3A
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.700 1.000 36 1989 2018
dbSNP: rs1064794276
rs1064794276
NF1
2 0.925 0.120 17 31235639 frameshift variant TTTG/- delins 0.700 1.000 34 1967 2017
dbSNP: rs137854562
rs137854562
NF1
4 0.925 0.120 17 31235623 stop gained C/T snv 0.700 1.000 34 1967 2017
dbSNP: rs1553583712
rs1553583712
SCN2A
2 1.000 2 165354339 frameshift variant GA/- del 0.700 1.000 34 1991 2017
dbSNP: rs1555533842
rs1555533842
NF1
3 1.000 17 31330303 frameshift variant -/C delins 0.700 1.000 34 1967 2017
dbSNP: rs1555534380
rs1555534380
NF1
1 1.000 17 31334860 stop gained T/A snv 0.700 1.000 34 1967 2017
dbSNP: rs1555535052
rs1555535052
NF1
1 1.000 17 31338798 frameshift variant -/TA delins 0.700 1.000 34 1967 2017
dbSNP: rs28933068
rs28933068
FGFR3
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 34 1985 2016
dbSNP: rs796053162
rs796053162
SCN2A
3 0.882 0.080 2 165389123 missense variant G/A snv 0.700 1.000 34 1991 2017
dbSNP: rs1554698878
rs1554698878
HNRNPK
4 0.925 9 83971976 stop gained G/A snv 0.700 1.000 30 1996 2018
dbSNP: rs797044870
rs797044870
CDC42
3 0.925 1 22086456 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs797044916
rs797044916
CDC42
1 1.000 1 22078546 missense variant A/G snv 0.700 1.000 30 1993 2015
dbSNP: rs113001196
rs113001196
FBN1
5 0.882 0.160 15 48432947 stop gained G/A snv 0.700 1.000 29 1986 2016