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: rs397515337
rs397515337
SDCCAG8
2 0.925 1 243305133 missense variant C/T snv 1.2E-04 6.3E-05 0.700 1.000 2 2010 2011
dbSNP: rs756907665
rs756907665
SDCCAG8
2 0.925 1 243286398 splice donor variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs1390963789
rs1390963789
SDCCAG8
1 1.000 1 243378822 frameshift variant A/- del 0.700 0
dbSNP: rs387906218
rs387906218
SDCCAG8
1 1.000 1 243341153 frameshift variant -/G delins 0.700 0
dbSNP: rs397515335
rs397515335
SDCCAG8 ; MIR4677
2 0.925 0.120 1 243344277 frameshift variant G/- delins 0.700 0
dbSNP: rs397515336
rs397515336
SDCCAG8
1 1.000 1 243426517 frameshift variant GTGT/- delins 0.700 0
dbSNP: rs797045946
rs797045946
SDCCAG8
2 0.925 1 243270976 splice acceptor variant A/G snv 0.700 0
dbSNP: rs797045947
rs797045947
SDCCAG8
1 1.000 1 243286332 stop gained C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs797045948
rs797045948
SDCCAG8
1 1.000 1 243293111 stop gained G/A snv 0.700 0