Gene: BMPR1A ×
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: rs199476087
rs199476087
BMPR1A
2 1.000 0.120 10 86899830 missense variant T/C snv 0.800 1.000 8 2001 2017
dbSNP: rs199476088
rs199476088
BMPR1A
1 1.000 0.120 10 86919430 missense variant G/A snv 0.800 1.000 8 2001 2017
dbSNP: rs199476086
rs199476086
BMPR1A
3 0.925 0.120 10 86919316 missense variant C/A;T snv 0.800 1.000 4 2001 2003
dbSNP: rs587783038
rs587783038
BMPR1A
1 1.000 0.120 10 86890109 frameshift variant -/A ins 0.700 1.000 7 2001 2013
dbSNP: rs199476089
rs199476089
BMPR1A
1 1.000 0.120 10 86923442 missense variant T/C snv 0.700 1.000 4 2001 2003
dbSNP: rs1564673999
rs1564673999
BMPR1A
1 1.000 0.120 10 86756638 splice donor variant CGGCCGCTGCAGAGATTGGAATCCGCCTGCCGGGCTTGGCGAAGGAGAAGGGAGGAGGCAGGAGCGAGGAGGGAGGAGGGCCAAGGGCGGGCAGGAAGGCTTAGGCTCGGCGCGTCCGTCCGCGCGCGGCGAAGATCGCACGGCCCGATCGAGGGGCGACCGGGTCGGGGCCGCTGCACGCCAAGGGCGAAGGCCGATTCGGGCCCCACTTCGCCCCGGCGGCTCGCCGCGCCCACCCGCTCCGCGCCGAGGGCTGGAGGATGCGTTCCCTGGGGTCCGGG/- delins 0.700 1.000 3 2010 2012
dbSNP: rs1060503408
rs1060503408
BMPR1A
1 1.000 0.120 10 86919236 frameshift variant C/- delins 0.700 1.000 2 2001 2002
dbSNP: rs1554886816
rs1554886816
BMPR1A
1 1.000 0.120 10 86876060 frameshift variant TGTT/- delins 0.700 1.000 2 2001 2013
dbSNP: rs1564715427
rs1564715427
BMPR1A
1 1.000 0.120 10 86892126 splice acceptor variant G/C snv 0.700 1.000 2 2001 2002
dbSNP: rs1564724111
rs1564724111
BMPR1A
1 1.000 0.120 10 86919170 splice acceptor variant AGGTT/- del 0.700 1.000 2 2001 2002
dbSNP: rs587782400
rs587782400
BMPR1A
2 1.000 0.120 10 86917275 stop gained C/T snv 0.700 1.000 2 2001 2009
dbSNP: rs587782682
rs587782682
BMPR1A
2 1.000 0.120 10 86917140 stop gained C/A;T snv 3.2E-05 0.700 1.000 2 2002 2013
dbSNP: rs786203157
rs786203157
BMPR1A
2 1.000 0.120 10 86876019 start lost A/C;G snv 0.700 1.000 2 2009 2013
dbSNP: rs1564722014
rs1564722014
BMPR1A
1 1.000 0.120 10 86912382 frameshift variant T/- delins 0.700 1.000 1 2004 2004
dbSNP: rs786201038
rs786201038
BMPR1A
2 1.000 0.120 10 86890165 frameshift variant T/- delins 0.700 1.000 1 2013 2013
dbSNP: rs876660442
rs876660442
BMPR1A
2 1.000 0.120 10 86899863 frameshift variant -/A delins 0.700 1.000 1 2006 2006
dbSNP: rs878854664
rs878854664
BMPR1A
2 1.000 0.120 10 86923631 stop gained G/A snv 0.700 1.000 1 1993 1993
dbSNP: rs1060503409
rs1060503409
BMPR1A
1 1.000 0.120 10 86919249 frameshift variant CTCT/- delins 0.700 0
dbSNP: rs1064792985
rs1064792985
BMPR1A
1 1.000 0.120 10 86890203 frameshift variant TATTAATAACACATGC/- delins 0.700 0
dbSNP: rs1131691168
rs1131691168
BMPR1A
2 1.000 0.120 10 86899848 missense variant T/C snv 0.700 0
dbSNP: rs1131691179
rs1131691179
BMPR1A
2 1.000 0.120 10 86900037 frameshift variant TGATGGCAGCATTCGATG/GA delins 0.700 0
dbSNP: rs1131691181
rs1131691181
BMPR1A
2 1.000 0.120 10 86921574 stop gained C/G snv 0.700 0
dbSNP: rs1230919713
rs1230919713
BMPR1A
1 1.000 0.120 10 86917292 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1404557708
rs1404557708
BMPR1A
1 1.000 0.120 10 86919213 stop gained C/A;T snv 4.0E-06 0.700 0
dbSNP: rs1554888970
rs1554888970
BMPR1A
1 1.000 0.120 10 86899822 frameshift variant AGAATGTTGTCGGACCAAT/- delins 0.700 0