Gene: MYBPC3 ×
Source: CLINVAR ×
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: rs397515947
rs397515947
MYBPC3
2 1.000 0.040 11 47339376 frameshift variant G/- delins 0.700 1.000 7 1998 2017
dbSNP: rs727503204
rs727503204
MYBPC3
5 0.882 0.080 11 47343020 splice donor variant C/G;T snv 0.700 1.000 3 2006 2011
dbSNP: rs397516028
rs397516028
MYBPC3
3 1.000 0.080 11 47332594 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs397515939
rs397515939
MYBPC3
1 11 47339758 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs730880140
rs730880140
MYBPC3
2 1.000 0.080 11 47333297 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs876657704
rs876657704
MYBPC3
1 11 47337489 frameshift variant C/- del 0.700 0