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: rs1057519525
rs1057519525
SCN2A
1 1.000 0.040 2 165308760 missense variant T/G snv 0.700 0
dbSNP: rs1057519541
rs1057519541
CDKL5
1 1.000 0.040 X 18628515 stop gained C/T snv 0.700 0
dbSNP: rs1057519543
rs1057519543
MECP2
1 1.000 0.040 X 154030913 missense variant C/A snv 0.700 0
dbSNP: rs587780455
rs587780455
SCN8A
3 0.827 0.160 12 51807116 missense variant A/G snv 0.700 0
dbSNP: rs587784440
rs587784440
SPTAN1
3 0.925 0.040 9 128632261 inframe deletion ACCAGCTGG/-;ACCAGCTGGACCAGCTGG delins 0.700 0
dbSNP: rs730882225
rs730882225
NID1
3 0.925 0.040 1 235980495 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs797044873
rs797044873
SNAP25 ; SNAP25-AS1
4 0.925 0.040 20 10284751 missense variant G/T snv 0.700 0