Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863224900
rs863224900
MYH7
0.807 0.160 14 23428534 missense variant A/C;G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs587779393
rs587779393
MYH7 ; MHRT
1.000 0.120 14 23416020 missense variant A/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs587779414
rs587779414
MYH7 ; MHRT
1.000 0.120 14 23417230 missense variant A/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs797044602
rs797044602
MYH7 ; MHRT
1.000 0.120 14 23415669 missense variant A/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.710 1.000 0 2012 2012
dbSNP: rs730880808
rs730880808
MYH7 ; MHRT
1.000 0.120 14 23416185 missense variant A/G;T snv 4.0E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs121913647
rs121913647
MYH7 ; MHRT
0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.800 1.000 0 2004 2007
dbSNP: rs3218716
rs3218716
MYH7
0.716 0.280 14 23425316 missense variant C/A;G;T snv 4.0E-06; 2.4E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs370328209
rs370328209
MYH7 ; MHRT
1.000 0.120 14 23415801 missense variant C/A;G;T snv 4.0E-06; 6.0E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs587779391
rs587779391
MYH7 ; MHRT
1.000 0.120 14 23416134 missense variant C/A;G;T snv 4.0E-06; 8.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs3218713
rs3218713
MYH7
0.763 0.160 14 23431468 missense variant C/A;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs587779415
rs587779415
MYH7 ; MHRT
1.000 0.120 14 23416051 missense variant C/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs797044599
rs797044599
MYH7 ; MIR208B ; MHRT
1.000 0.120 14 23417541 missense variant C/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.710 1.000 0 2013 2013
dbSNP: rs797044601
rs797044601
MYH7 ; MHRT
1.000 0.120 14 23415799 missense variant C/G snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs121913628
rs121913628
MYH7
0.763 0.160 14 23424059 missense variant C/G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs397516171
rs397516171
MYH7
0.763 0.160 14 23424041 missense variant C/G;T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs730880809
rs730880809
MYH7 ; MHRT
0.925 0.160 14 23416150 missense variant C/G;T snv 8.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs797044600
rs797044600
MYH7 ; MHRT
1.000 0.120 14 23416194 missense variant C/G;T snv 8.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs371898076
rs371898076
MYH7
0.763 0.160 14 23426833 missense variant C/T snv 8.0E-06 4.9E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 1.000 5 1999 2014
dbSNP: rs397516248
rs397516248
MYH7 ; MHRT
0.851 0.200 14 23415153 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.710 1.000 1 2009 2015
dbSNP: rs397516254
rs397516254
MYH7 ; MHRT
0.925 0.160 14 23413809 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs397516264
rs397516264
MYH7
0.763 0.160 14 23431602 missense variant C/T snv 4.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs727504753
rs727504753
MYH7
0.807 0.160 14 23429345 missense variant C/T snv
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs797044598
rs797044598
MYH7 ; MHRT
0.925 0.120 14 23414096 missense variant C/T snv 4.0E-06
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs587779396
rs587779396
MYH7 ; MHRT
0.925 0.160 14 23415174 inframe deletion CAG/- delins
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 0
dbSNP: rs397516220
rs397516220
MYH7 ; MHRT
0.925 0.160 14 23416988 splice acceptor variant CTC/- delins
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.700 1.000 3 2004 2011