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: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.040 0.750 4 1998 2004
dbSNP: rs1206846668
rs1206846668
FOLH1
16 0.724 0.400 11 49185773 missense variant G/A snv 4.1E-06 0.010 1.000 1 2003 2003
dbSNP: rs1831992
rs1831992
ZIC2
2 1.000 0.080 13 99983123 synonymous variant C/T snv 8.1E-02 7.8E-02 0.010 < 0.001 1 2004 2004
dbSNP: rs368087026
rs368087026
SLC19A1
33 0.637 0.520 21 45530890 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs745579533
rs745579533
SP1
2 0.925 0.080 12 53382768 missense variant C/T snv 0.010 1.000 1 2004 2004