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: rs1057518966
rs1057518966
MUSK
4 1.000 0.040 9 110800743 missense variant G/A snv 0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1553603732
rs1553603732
DES
10 1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
10 0.807 0.320 10 100989331 missense variant G/A snv 0.700 0
dbSNP: rs1555038111
rs1555038111
KMT2A
37 0.701 0.480 11 118478153 stop gained T/G 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: rs397507520
rs397507520
PTPN11
39 0.658 0.520 12 112453279 missense variant G/C;T snv 0.700 0
dbSNP: rs727503109
rs727503109
KRAS
17 0.752 0.320 12 25245277 missense variant T/C snv 0.700 0
dbSNP: rs751889864
rs751889864
MUSK ; LOC107987115
5 0.925 0.120 9 110785664 missense variant T/A;C snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs753611141
rs753611141
PMPCA
14 0.827 0.280 9 136418847 missense variant G/A;T snv 2.4E-05; 4.0E-06 0.700 0
dbSNP: rs768643552
rs768643552
PMPCA
13 0.851 0.240 9 136418630 missense variant G/A;C 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: rs886041065
rs886041065
ASXL2
43 0.677 0.600 2 25743913 frameshift variant G/- delins 0.700 0