Gene: PORCN ×
Source: INFERRED ×
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: rs267606973
rs267606973
PORCN
1 1.000 0.120 X 48511336 missense variant G/A snv 0.800 1.000 0 2007 2011
dbSNP: rs1057519006
rs1057519006
PORCN
1 1.000 0.120 X 48512598 missense variant T/C snv 0.700 0
dbSNP: rs1114167283
rs1114167283
PORCN
1 1.000 0.120 X 48511426 stop gained C/T snv 0.700 0
dbSNP: rs137852218
rs137852218
PORCN
1 1.000 0.120 X 48511932 stop gained C/T snv 0.700 0
dbSNP: rs137852219
rs137852219
PORCN
1 1.000 0.120 X 48511380 stop gained G/A snv 0.700 0
dbSNP: rs1556975151
rs1556975151
PORCN
1 1.000 0.120 X 48515795 splice donor variant T/A snv 0.700 0
dbSNP: rs387906723
rs387906723
PORCN
1 1.000 0.120 X 48516082 missense variant G/A snv 1.6E-05 9.5E-06 0.700 0
dbSNP: rs587776737
rs587776737
PORCN
1 1.000 0.120 X 48515922 frameshift variant -/CCTGGCTTTTATC delins 0.700 0