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: rs104894366
rs104894366
0.776 0.400 12 25245284 missense variant G/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 6 2006 2014
dbSNP: rs104894359
rs104894359
0.851 0.200 12 25227346 missense variant C/G;T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs387907205
rs387907205
0.925 0.160 12 25227313 missense variant A/C;G snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs387907206
rs387907206
1.000 12 25225625 missense variant T/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.800 1.000 5 2006 2012
dbSNP: rs104894360
rs104894360
0.724 0.560 12 25209904 missense variant T/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.700 0
dbSNP: rs104894361
rs104894361
0.882 0.240 12 25245370 missense variant T/A;C;G snv 4.0E-06
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.700 0
dbSNP: rs104894362
rs104894362
0.882 0.200 12 25209894 missense variant G/C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.700 0
dbSNP: rs727503110
rs727503110
0.882 0.160 12 25245320 missense variant T/A;C snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.700 0
dbSNP: rs730880471
rs730880471
0.851 0.280 12 25225709 missense variant C/T snv
CUI: C3809005
Disease: CARDIOFACIOCUTANEOUS SYNDROME 2
CARDIOFACIOCUTANEOUS SYNDROME 2
0.700 0