RIT1, Ras like without CAAX 1, 6016

N. diseases: 184; N. variants: 18
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs672601335
rs672601335
0.882 0.160 1 155904456 missense variant C/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.800 1.000 10 1987 2016
dbSNP: rs672601334
rs672601334
0.752 0.400 1 155904798 missense variant G/C snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.800 1.000 9 2013 2016
dbSNP: rs869025193
rs869025193
0.925 0.160 1 155904498 missense variant T/C snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.800 1.000 3 2013 2016
dbSNP: rs730881014
rs730881014
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 9 2013 2016
dbSNP: rs869025194
rs869025194
0.882 0.280 1 155904496 missense variant A/C;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 7 2013 2016
dbSNP: rs869025189
rs869025189
0.925 0.160 1 155910658 missense variant C/G snv 7.0E-06
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 6 2013 2016
dbSNP: rs483352822
rs483352822
0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 5 2013 2016
dbSNP: rs869025191
rs869025191
0.827 0.160 1 155904739 missense variant C/A;G;T snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 5 1989 2016
dbSNP: rs869025197
rs869025197
0.925 0.160 1 155904475 missense variant A/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 2 2016 2016
dbSNP: rs1557962794
rs1557962794
0.882 0.160 1 155910693 missense variant T/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 1.000 1 2016 2016
dbSNP: rs1557960039
rs1557960039
1.000 1 155904472 missense variant T/C snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 0
dbSNP: rs869312687
rs869312687
0.925 0.080 1 155910695 missense variant T/G snv
CUI: C3809233
Disease: NOONAN SYNDROME 8
NOONAN SYNDROME 8
0.700 0