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: rs1085307185
rs1085307185
BMPR2
2 0.925 0.040 2 202464978 missense variant A/C snv 0.700 0
dbSNP: rs1085307354
rs1085307354
BMPR2
2 0.925 0.040 2 202552749 missense variant T/C snv 0.700 0
dbSNP: rs137852742
rs137852742
BMPR2
2 0.925 0.080 2 202464950 stop gained C/G;T snv 0.700 0
dbSNP: rs1553508321
rs1553508321
BMPR2
1 1.000 0.040 2 202514980 splice donor variant G/T snv 0.700 0
dbSNP: rs1553509983
rs1553509983
BMPR2
1 1.000 0.040 2 202532596 frameshift variant -/GA delins 0.700 0
dbSNP: rs1553509984
rs1553509984
BMPR2
1 1.000 0.040 2 202532604 frameshift variant T/- del 0.700 0
dbSNP: rs1559073178
rs1559073178
BMPR2
1 1.000 0.040 2 202552814 frameshift variant -/A delins 0.700 0
dbSNP: rs398123039
rs398123039
KCNK3
2 0.925 0.040 2 26727991 missense variant G/A snv 0.700 0
dbSNP: rs483352902
rs483352902
BMPR2
2 0.925 0.040 2 202377517 frameshift variant C/- delins 0.700 0
dbSNP: rs878854272
rs878854272
BMPR2
1 1.000 0.040 2 202530951 splice donor variant CGAGGTGAGTGTATACAAAA/- del 0.700 0
dbSNP: rs886039220
rs886039220
BMPR2
1 1.000 0.040 2 202542301 intron variant -/GGG ins 0.700 0
dbSNP: rs886039221
rs886039221
BMPR2
1 1.000 0.040 2 202552743 inframe deletion AGA/- delins 0.700 0
dbSNP: rs886039223
rs886039223
BMPR2
1 1.000 0.040 2 202464903 frameshift variant -/AT delins 0.700 0
dbSNP: rs1006246556
rs1006246556
BMPR2
1 1.000 0.040 2 202556253 missense variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs1060502576
rs1060502576
BMPR2
3 0.882 0.080 2 202542432 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1085307144
rs1085307144
BMPR2
1 1.000 0.040 2 202376528 5 prime UTR variant GC/AT mnv 0.700 1.000 1 2007 2007
dbSNP: rs1085307145
rs1085307145
BMPR2
1 1.000 0.040 2 202377481 frameshift variant -/C delins 0.700 1.000 1 2015 2015
dbSNP: rs1085307146
rs1085307146
BMPR2
1 1.000 0.040 2 202377489 frameshift variant CAGCG/- delins 0.700 1.000 1 2004 2004
dbSNP: rs1085307147
rs1085307147
BMPR2
1 1.000 0.040 2 202377494 frameshift variant G/- delins 0.700 1.000 1 2012 2012
dbSNP: rs1085307148
rs1085307148
BMPR2
1 1.000 0.040 2 202377495 frameshift variant GCCCTGGCG/A delins 0.700 1.000 1 2006 2006
dbSNP: rs1085307150
rs1085307150
BMPR2
1 1.000 0.040 2 202377502 missense variant C/T snv 0.700 1.000 1 2008 2008
dbSNP: rs1085307152
rs1085307152
BMPR2
1 1.000 0.040 2 202377513 stop gained G/A;C snv 0.700 1.000 1 2010 2010
dbSNP: rs1085307155
rs1085307155
BMPR2
1 1.000 0.040 2 202377551 splice donor variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1085307156
rs1085307156
BMPR2
1 1.000 0.040 2 202377552 splice donor variant T/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1085307157
rs1085307157
BMPR2
2 0.925 0.080 2 202377555 splice region variant G/A snv 0.700 1.000 1 2009 2009