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: rs137852913
rs137852913
MCFD2
1 1.000 2 46905517 missense variant G/C snv 0.800 1.000 4 2003 2010
dbSNP: rs137852914
rs137852914
MCFD2
1 1.000 2 46905497 missense variant A/G snv 4.0E-06; 8.0E-06 0.800 1.000 4 2003 2010
dbSNP: rs78289603
rs78289603
MCFD2
1 1.000 2 46907878 missense variant C/A;G snv 0.800 1.000 4 2003 2010
dbSNP: rs1253799389
rs1253799389
MCFD2
1 1.000 2 46909069 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs1294221028
rs1294221028
MCFD2
1 1.000 2 46907870 frameshift variant A/- del 3.5E-05 0.700 0
dbSNP: rs1558461545
rs1558461545
MCFD2
1 1.000 2 46907847 frameshift variant CATCAAGC/- delins 0.700 0
dbSNP: rs387906286
rs387906286
MCFD2
2 0.925 0.080 2 46909018 splice region variant C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs387906287
rs387906287
MCFD2
1 1.000 2 46907809 splice donor variant C/T snv 0.700 0
dbSNP: rs748641905
rs748641905
MCFD2
3 0.882 0.080 2 46905501 missense variant A/T snv 0.700 0