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: rs794728598
rs794728598
LMNA
1.000 0.080 1 156114921 start lost G/A;C;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 5 2007 2011
dbSNP: rs11575937
rs11575937
LMNA
0.653 0.480 1 156136985 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 4 2000 2013
dbSNP: rs1228406418
rs1228406418
LMNA
1.000 0.080 1 156115009 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 4 2012 2017
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: rs386134243
rs386134243
LMNA
0.708 0.360 1 156135967 missense variant C/A;T snv 4.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 4 2012 2017
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: rs59270054
rs59270054
LMNA
0.925 0.120 1 156115162 missense 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 4 2006 2010
dbSNP: rs794728589
rs794728589
LMNA
1.000 0.080 1 156115275 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 4 2008 2013
dbSNP: rs886043109
rs886043109
LMNA
1.000 0.080 1 156115001 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 4 2002 2011
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: rs28933093
rs28933093
LMNA
0.882 0.160 1 156130741 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 2013 2018
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: rs57508089
rs57508089
LMNA
1.000 0.080 1 156136110 synonymous variant 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 2007 2016
dbSNP: rs57983345
rs57983345
LMNA
0.851 0.160 1 156115034 missense variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2007 2011
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: rs59914820
rs59914820
LMNA
0.925 0.160 1 156115000 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 3 2002 2011
dbSNP: rs864309525
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 3 2012 2017
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: rs1553265760
rs1553265760
LMNA
1.000 0.080 1 156136106 frameshift variant A/- del
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2011 2012
dbSNP: rs1553265924
rs1553265924
LMNA
1.000 0.080 1 156136438 splice donor variant T/G 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: rs267607552
rs267607552
LMNA
1.000 0.080 1 156136437 splice donor 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 2 2008 2008
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
dbSNP: rs267607557
rs267607557
LMNA
1.000 0.080 1 156137182 missense variant T/C;G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2017 2018
dbSNP: rs267607620
rs267607620
LMNA
0.925 0.120 1 156114929 missense variant C/G;T snv 6.0E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2009 2014
dbSNP: rs267607637
rs267607637
LMNA
0.925 0.120 1 156136402 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 2 2014 2015