Source: CLINVAR ×
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: rs28934906
rs28934906
MECP2
40 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 6 2000 2010
dbSNP: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs1060499939
rs1060499939
SPAST
4 0.882 0.120 2 32137172 missense variant G/C;T snv 0.700 0
dbSNP: rs1131692230
rs1131692230
PDHA1
9 0.807 0.160 X 19353124 missense variant A/G snv 0.700 0
dbSNP: rs121918455
rs121918455
PTPN11
31 0.695 0.440 12 112477720 missense variant A/C;G snv 0.700 0
dbSNP: rs1345176461
rs1345176461
IRF2BPL ; LOC107984638
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1555247672
rs1555247672
MED13L
14 0.827 0.200 12 116007542 stop gained G/A snv 0.700 0
dbSNP: rs1555303073
rs1555303073
COL4A1
5 0.851 0.120 13 110176912 missense variant C/T snv 0.700 0
dbSNP: rs1555377415
rs1555377415
IRF2BPL ; LOC107984638
18 0.827 0.200 14 77027274 stop gained G/C snv 0.700 0
dbSNP: rs28936415
rs28936415
PMM2
22 0.752 0.320 16 8811153 missense variant G/A snv 4.1E-03 3.7E-03 0.700 0
dbSNP: rs564185858
rs564185858
ADD3
3 0.882 0.040 10 110122249 missense variant G/A snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs606231435
rs606231435
ATP1A3
17 0.827 0.240 19 41970539 missense variant C/T snv 0.700 0
dbSNP: rs61749721
rs61749721
MECP2
15 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs756421370
rs756421370
MECR
8 0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 0.700 0
dbSNP: rs767399782
rs767399782
TUBB4A
2 0.925 0.120 19 6495736 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs780533096
rs780533096
MIPEP
44 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
dbSNP: rs80338700
rs80338700
PMM2
7 0.851 0.200 16 8806398 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 0
dbSNP: rs937726878
rs937726878
PMM2 ; TMEM186
3 0.882 0.240 16 8797949 splice donor variant G/T snv 1.4E-05 7.0E-06 0.700 0