Source: ALL

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: rs58932704
rs58932704
LMNA
0.776 0.200 1 156136413 missense variant C/T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.810 1.000 3 2008 2017
dbSNP: rs57629361
rs57629361
LMNA
0.827 0.280 1 156137207 missense variant C/A;G;T snv 9.3E-06
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 11 1991 2014
dbSNP: rs121912496
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 5 2008 2017
dbSNP: rs57207746
rs57207746
LMNA
0.925 0.120 1 156134860 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 5 2000 2017
dbSNP: rs57520892
rs57520892
LMNA
0.776 0.200 1 156137204 missense variant G/A;C snv 4.1E-05
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 2 2012 2017
dbSNP: rs60934003
rs60934003
LMNA
0.882 0.160 1 156137213 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.800 1.000 2 2012 2017
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2001 2001
dbSNP: rs58034145
rs58034145
LMNA
0.827 0.160 1 156134830 missense variant A/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2005 2005
dbSNP: rs59653062
rs59653062
LMNA
0.925 0.120 1 156136076 missense variant T/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2006 2006
dbSNP: rs61672878
rs61672878
LMNA
0.776 0.200 1 156136094 missense variant G/A;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.710 1.000 1 2004 2004
dbSNP: rs59332535
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 13 2000 2014
dbSNP: rs267607545
rs267607545
LMNA
0.882 0.200 1 156136121 missense variant G/A;C;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607571
rs267607571
LMNA
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607614
rs267607614
LMNA
1.000 0.120 1 156115016 missense variant A/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607629
rs267607629
LMNA
1.000 0.120 1 156134507 missense variant C/G snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607630
rs267607630
LMNA
1.000 0.120 1 156134967 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607633
rs267607633
LMNA
1.000 0.120 1 156135259 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607634
rs267607634
LMNA
0.925 0.120 1 156136045 missense variant G/A;C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607637
rs267607637
LMNA
0.925 0.120 1 156136402 missense variant G/A snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607638
rs267607638
LMNA
1.000 0.120 1 156136417 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607639
rs267607639
LMNA
0.882 0.200 1 156136939 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607641
rs267607641
LMNA
1.000 0.120 1 156135188 missense variant T/C snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607642
rs267607642
LMNA
1.000 0.120 1 156136921 missense variant G/T snv 8.0E-06
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs267607643
rs267607643
LMNA
1.000 0.120 1 156134455 missense variant GG/CC mnv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017
dbSNP: rs56984562
rs56984562
LMNA
0.827 0.200 1 156137666 missense variant C/A;G;T snv
CUI: C0410190
Disease: Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) 		0.700 1.000 2 2012 2017