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: rs267606908
rs267606908
MYH7
0.763 0.160 14 23424112 missense variant T/C snv 4.0E-06 7.0E-06
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: 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: rs730880761
rs730880761
MYH7
0.925 0.120 14 23424025 missense variant T/A snv 8.0E-06
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: 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: 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: 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: 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: rs121913653
rs121913653
MYH7
0.925 0.160 14 23429040 missense variant G/A snv 2.3E-04 7.0E-05
CUI: C4552004
Disease: Distal Myopathy 1
Distal Myopathy 1 		0.800 1.000 0 2004 2007