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: rs1553630279
rs1553630279
CTNNB1
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs1060502227
rs1060502227
SPAST
6 0.851 0.120 2 32136593 missense variant C/G;T 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: rs137853066
rs137853066
KCNJ10
7 0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06 0.700 0
dbSNP: rs145465528
rs145465528
LAMA2
7 0.882 0.240 6 129143976 missense variant C/T snv 6.0E-05 9.1E-05 0.700 0
dbSNP: rs1553878395
rs1553878395
SEPSECS
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0