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: rs57920071
rs57920071
0.769 0.214 1 156136984 missense variant C/T snp 4.0E-06
Familial Partial Lipodystrophy, Type 2
0.830 1.000 9 2000 2018
dbSNP: rs57318642
rs57318642
0.821 0.179 1 156137203 missense variant C/T snp 1.4E-05 6.4E-05
CUI: C0033300
Disease: Progeria
Progeria
0.820 1.000 6 1993 2014
dbSNP: rs58932704
rs58932704
0.769 0.179 1 156136413 missense variant C/T snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.810 1.000 10 1999 2014
dbSNP: rs61672878
rs61672878
0.801 0.179 1 156136094 missense variant G/A,T snp
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder)
0.810 < 0.001 9 2000 2014
dbSNP: rs56984562
rs56984562
0.846 0.179 1 156137666 missense variant C/A,G,T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 7 2004 2016
dbSNP: rs57520892
rs57520892
0.756 0.214 1 156137204 missense variant G/A,C snp 4.1E-05 3.2E-05
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 1.000 7 2002 2014
dbSNP: rs59026483
rs59026483
0.821 0.143 1 156134457 missense variant C/T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 < 0.001 4 2002 2006
dbSNP: rs28933093
rs28933093
0.923 0.071 1 156130741 missense variant G/A snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.810 1.000 3 2003 2012
dbSNP: rs60310264
rs60310264
0.923 0.071 1 156130693 missense variant G/A snp
CUI: C0033300
Disease: Progeria
Progeria
0.810 1.000 3 1993 2013
dbSNP: rs60580541
rs60580541
1.000 0.107 1 156137210 missense variant C/T snp
CUI: C0432291
Disease: Mandibuloacral dysostosis
Mandibuloacral dysostosis
0.810 1.000 2 2003 2005
dbSNP: rs57629361
rs57629361
0.801 0.250 1 156137207 missense variant C/A,G,T snp 9.3E-06
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 15 1991 2016
dbSNP: rs59332535
rs59332535
0.821 0.143 1 156134911 missense variant G/A snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 15 2000 2016
dbSNP: rs11575937
rs11575937
0.715 0.321 1 156136985 missense variant G/A,T snp
Familial Partial Lipodystrophy, Type 2
0.800 9 2000 2013
dbSNP: rs60864230
rs60864230
0.784 0.250 1 156130658 missense variant G/A,C,T snp 4.0E-06 6.4E-05
Familial Partial Lipodystrophy, Type 2
0.800 7 2001 2006
dbSNP: rs59885338
rs59885338
0.878 0.071 1 156135268 missense variant C/T snp 3.6E-05
Charcot-Marie-Tooth disease, Type 2B1
0.800 6 1993 2016
dbSNP: rs267607545
rs267607545
0.878 0.179 1 156136121 missense variant G/A,C,T snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 5 2000 2014
dbSNP: rs28933091
rs28933091
0.923 0.143 1 156134474 missense variant C/A,G snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 5 1993 2013
dbSNP: rs121912496
rs121912496
0.923 0.107 1 156134910 missense variant C/G,T snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 4 2008 2016
dbSNP: rs57207746
rs57207746
0.923 0.107 1 156134860 missense variant G/A snp
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 4 2000 2016
dbSNP: rs61064130
rs61064130
0.923 0.071 1 156138611 missense variant G/A,T snp
CUI: C0033300
Disease: Progeria
Progeria
0.800 4 1993 2010
dbSNP: rs61195471
rs61195471
0.846 0.107 1 156134496 missense variant G/A snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 4 1993 2010
dbSNP: rs28928903
rs28928903
0.923 0.179 1 156115087 missense variant G/A,C snp
CUI: C0796031
Disease: Malouf syndrome
Malouf syndrome
0.800 3 2003 2009
dbSNP: rs28933092
rs28933092
1.000 0.036 1 156134497 missense variant A/G,T snp
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic
0.800 3 1999 2008
dbSNP: rs57520892
rs57520892
0.756 0.214 1 156137204 missense variant G/A,C snp 4.1E-05 3.2E-05
Familial Partial Lipodystrophy, Type 2
0.800 3 1999 2009
dbSNP: rs57520892
rs57520892
0.756 0.214 1 156137204 missense variant G/A,C snp 4.1E-05 3.2E-05
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
0.800 3 1999 2009