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: rs1562846694
rs1562846694
TFR2 ; ACTL6B
32 0.763 0.320 7 100643252 inframe deletion TTCGCTCCACGCACT/- delins 0.700 1.000 1 2019 2019
dbSNP: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057524820
rs1057524820
SCN8A
33 0.776 0.280 12 51765746 missense variant G/A;T snv 0.700 0
dbSNP: rs1064795760
rs1064795760
BICD2
14 0.882 0.080 9 92719007 inframe deletion ATT/- del 0.700 0
dbSNP: rs1223073957
rs1223073957
MED25
12 0.827 0.240 19 49835897 frameshift variant C/- delins 1.2E-05 1.4E-05 0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
63 0.645 0.520 1 226071445 missense variant A/G snv 0.700 0
dbSNP: rs1562927768
rs1562927768
KMT2E
15 0.790 0.080 7 105101476 frameshift variant AAAGA/- delins 0.700 0
dbSNP: rs1565679039
rs1565679039
COL2A1
45 0.701 0.400 12 47983399 stop gained T/A snv 0.700 0
dbSNP: rs368869806
rs368869806
PTCH1
97 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs776291104
rs776291104
MED25
12 0.827 0.240 19 49829816 missense variant C/T snv 8.7E-06 0.700 0
dbSNP: rs796052243
rs796052243
SPATA5
54 0.695 0.520 4 122934574 inframe deletion CAA/- delins 0.700 0