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: rs1558115754
rs1558115754
LMNA
1.000 0.080 1 156114922 stop gained G/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
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: rs1553261855
rs1553261855
LMNA
1.000 0.080 1 156114968 frameshift variant -/TC delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2015 2015
dbSNP: rs1558115970
rs1558115970
LMNA
1.000 0.080 1 156114989 frameshift variant C/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
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: 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: 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: 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: rs60872029
rs60872029
LMNA
0.925 0.120 1 156115010 inframe deletion AAG/- delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 7 2002 2014
dbSNP: rs1553261891
rs1553261891
LMNA
0.925 0.120 1 156115012 missense variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
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: rs1060502215
rs1060502215
LMNA
0.925 0.120 1 156115040 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 1 2010 2010
dbSNP: rs58436778
rs58436778
LMNA
0.925 0.120 1 156115052 missense variant A/G snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs60290646
rs60290646
LMNA
1.000 0.080 1 156115076 missense variant A/G;T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs56793579
rs56793579
LMNA
0.851 0.240 1 156115102 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 0
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: rs1553261982
rs1553261982
LMNA
1.000 0.080 1 156115165 frameshift variant -/CCGA delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs59040894
rs59040894
LMNA
0.925 0.120 1 156115184 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 0
dbSNP: rs267607646
rs267607646
LMNA
1.000 0.080 1 156115265 frameshift variant -/G delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 2 2009 2012
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: rs794728605
rs794728605
LMNA
1.000 0.080 1 156130641 frameshift variant GAT/TGGTCACCTGAGAG delins
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 0
dbSNP: rs1553264593
rs1553264593
LMNA
1.000 0.080 1 156130651 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: rs60864230
rs60864230
LMNA
0.790 0.280 1 156130658 missense variant G/A;C;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 5 2001 2005
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