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: rs267607570
rs267607570
LMNA
0.925 0.120 1 156130757 missense variant G/A;C snv 4.8E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 4 2008 2015
dbSNP: rs59026483
rs59026483
LMNA
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2002 2015
dbSNP: rs267607571
rs267607571
LMNA
0.882 0.160 1 156134458 missense variant G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2002 2017
dbSNP: rs28933091
rs28933091
LMNA
0.882 0.160 1 156134474 missense variant C/A;G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2001 2013
dbSNP: rs1553265165
rs1553265165
LMNA
1.000 0.080 1 156134481 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs61195471
rs61195471
LMNA
0.827 0.160 1 156134496 missense variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 6 1999 2012
dbSNP: rs869125101
rs869125101
LMNA
1.000 0.080 1 156134529 splice donor variant G/A;C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2008 2008
dbSNP: rs794728591
rs794728591
LMNA
1.000 0.080 1 156134811 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2013 2018
dbSNP: rs60682848
rs60682848
LMNA
0.790 0.200 1 156134838 stop gained C/T snv 7.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 1990 2014
dbSNP: rs267607573
rs267607573
LMNA
1.000 0.080 1 156134865 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2008 2017
dbSNP: rs1553265328
rs1553265328
LMNA
1.000 0.080 1 156134893 frameshift variant -/T delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553265342
rs1553265342
LMNA
1.000 0.080 1 156134909 missense variant GC/TT mnv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 11 2000 2015
dbSNP: rs121912496
rs121912496
LMNA
0.882 0.120 1 156134910 missense variant C/G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 8 2008 2015
dbSNP: rs59332535
rs59332535
LMNA
0.827 0.160 1 156134911 missense variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2000 2014
dbSNP: rs267607632
rs267607632
LMNA
0.851 0.120 1 156134976 splice donor variant G/A;C snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs397517912
rs397517912
LMNA
1.000 0.080 1 156135244 missense variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2014 2018
dbSNP: rs1553265455
rs1553265455
LMNA
1.000 0.080 1 156135253 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs797044758
rs797044758
LMNA
1.000 0.080 1 156135262 frameshift variant -/A ins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs59885338
rs59885338
LMNA
0.851 0.120 1 156135268 missense variant C/T snv 3.6E-05 2.8E-05
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2004 2008
dbSNP: rs59684335
rs59684335
LMNA
0.882 0.120 1 156135280 frameshift variant CT/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2007 2007
dbSNP: rs878855234
rs878855234
LMNA
1.000 0.080 1 156135304 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs267607588
rs267607588
LMNA
1.000 0.080 1 156135313 splice donor variant G/A;C;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553265606
rs1553265606
LMNA
1.000 0.080 1 156135900 splice acceptor variant G/A snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2008 2008
dbSNP: rs56816490
rs56816490
LMNA
0.925 0.120 1 156135913 stop gained G/A;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 4 2002 2017
dbSNP: rs267607554
rs267607554
LMNA
1.000 0.080 1 156135925 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2008 2016