rs1171462240, MTMR2

N. diseases: 6
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Bulbar weakness
CUI: C1301959
Disease: Bulbar weakness
1 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Cavovarus deformity of foot
CUI: C0579144
Disease: Cavovarus deformity of foot
2 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Claw-shaped deformity
CUI: C0333072
Disease: Claw-shaped deformity
2 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Generalized amyotrophy
CUI: C1389113
Disease: Generalized amyotrophy
6 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019
Talipes cavus
CUI: C0039273
Disease: Talipes cavus
2 0.851 0.160 11 95849784 stop gained G/A snv 7.0E-06 0.010 1.000 1 2019 2019