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: rs387906696
rs387906696
TGFBR1
1 9 99128891 missense variant A/G snv 8.0E-06 2.8E-05 0.700 1.000 1 2011 2011
dbSNP: rs111426349
rs111426349
TGFBR1
4 0.882 0.120 9 99149252 missense variant C/A;T snv 4.0E-06 0.700 0
dbSNP: rs387906697
rs387906697
TGFBR1
2 1.000 9 99146594 stop gained C/T snv 0.700 0
dbSNP: rs587776865
rs587776865
TGFBR1
1 9 99128911 missense variant G/C snv 0.700 0
dbSNP: rs587776866
rs587776866
TGFBR1
1 9 99142534 splice acceptor variant A/C snv 0.700 0
dbSNP: rs757374917
rs757374917
TGFBR1
1 9 99129005 missense variant C/T snv 0.700 0