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: rs104893959
rs104893959
GCM2
2 0.925 0.040 6 10877343 missense variant C/A;T snv 2.0E-05; 8.0E-06 0.800 1.000 5 2005 2012
dbSNP: rs104893960
rs104893960
GCM2
2 0.925 0.040 6 10877296 missense variant C/T snv 4.0E-06 2.1E-05 0.800 1.000 5 2005 2012
dbSNP: rs104894271
rs104894271
PTH
1 1.000 0.040 11 13492804 missense variant A/G snv 0.800 1.000 3 1990 2007
dbSNP: rs104894272
rs104894272
PTH
1 1.000 0.040 11 13492789 missense variant A/G snv 0.800 1.000 3 1990 2007
dbSNP: rs533942394
rs533942394
GCM2
2 0.925 0.120 6 10874012 missense variant T/C;G snv 4.0E-06; 2.5E-04 0.700 1.000 5 2005 2012
dbSNP: rs1554103179
rs1554103179
GCM2
1 1.000 0.040 6 10876493 stop gained G/T snv 0.700 1.000 1 2012 2012
dbSNP: rs780594439
rs780594439
GCM2
2 0.925 0.040 6 10877155 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs886037646
rs886037646
GCM2
1 1.000 0.040 6 10874623 frameshift variant A/- del 0.700 0