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: rs387906652
rs387906652
SLC20A2
2 0.925 0.080 8 42417960 missense variant G/A;C snv 4.0E-06 0.800 1.000 8 2005 2014
dbSNP: rs387906653
rs387906653
SLC20A2
7 0.882 0.120 8 42428829 stop gained C/A;T snv 0.800 1.000 8 2005 2014
dbSNP: rs387906654
rs387906654
SLC20A2
1 1.000 0.080 8 42428768 missense variant G/A snv 0.800 1.000 8 2005 2014
dbSNP: rs1357615935
rs1357615935
SLC20A2
1 1.000 0.080 8 42437211 missense variant G/C snv 0.700 1.000 8 2005 2014
dbSNP: rs1388992742
rs1388992742
SLC20A2
1 1.000 0.080 8 42428841 missense variant C/T snv 0.700 1.000 8 2005 2014
dbSNP: rs1554561099
rs1554561099
SLC20A2
1 1.000 0.080 8 42472309 missense variant C/T snv 0.700 1.000 8 2005 2014
dbSNP: rs200010919
rs200010919
SLC20A2
1 1.000 0.080 8 42437367 missense variant C/T snv 1.2E-05 2.8E-05 0.700 1.000 8 2005 2014
dbSNP: rs201836672
rs201836672
SLC20A2
1 1.000 0.080 8 42472360 missense variant T/A;G snv 4.0E-06 7.0E-06 0.700 1.000 8 2005 2014
dbSNP: rs748252183
rs748252183
SLC20A2
1 1.000 0.080 8 42459928 missense variant T/C snv 8.0E-06 1.4E-05 0.700 1.000 8 2005 2014
dbSNP: rs763252801
rs763252801
SLC20A2
1 1.000 0.080 8 42430070 missense variant G/A snv 1.2E-05 0.700 1.000 8 2005 2014
dbSNP: rs775911275
rs775911275
SLC20A2
1 1.000 0.080 8 42465863 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2014
dbSNP: rs1563431044
rs1563431044
SLC20A2
1 1.000 0.080 8 42417968 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1563452322
rs1563452322
SLC20A2
1 1.000 0.080 8 42436991 frameshift variant AC/- delins 0.700 0
dbSNP: rs1563452941
rs1563452941
SLC20A2
13 0.882 0.120 8 42437137 stop gained C/A snv 0.700 0
dbSNP: rs1563453866
rs1563453866
SLC20A2
1 1.000 0.080 8 42437316 missense variant T/G snv 0.700 0
dbSNP: rs1563490467
rs1563490467
SLC20A2
1 1.000 0.080 8 42465904 frameshift variant C/- delins 0.700 0
dbSNP: rs1563497714
rs1563497714
SLC20A2
1 1.000 0.080 8 42472203 missense variant C/T snv 0.700 0
dbSNP: rs1563497719
rs1563497719
SLC20A2
1 1.000 0.080 8 42472204 missense variant C/T snv 0.700 0
dbSNP: rs1563498184
rs1563498184
SLC20A2
1 1.000 0.080 8 42472370 frameshift variant C/- del 0.700 0
dbSNP: rs398122395
rs398122395
SLC20A2
1 1.000 0.080 8 42463012 frameshift variant A/- delins 0.700 0
dbSNP: rs398122396
rs398122396
SLC20A2
1 1.000 0.080 8 42417931 frameshift variant GGAG/- delins 0.700 0
dbSNP: rs398122397
rs398122397
SLC20A2
1 1.000 0.080 8 42459925 frameshift variant CA/- delins 0.700 0
dbSNP: rs751093906
rs751093906
SLC20A2
8 0.882 0.200 8 42472255 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1273642311
rs1273642311
MIA2
2 0.925 0.120 14 39320963 missense variant C/G snv 7.0E-06 0.020 1.000 2 2011 2013
dbSNP: rs36060072
rs36060072
MIA2
2 0.925 0.120 14 39320945 missense variant C/G;T snv 4.7E-03; 6.0E-05 0.020 1.000 2 2011 2013