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: rs1217053724
rs1217053724
LAMC2
0.925 0.080 1 183243272 stop gained C/T snv 7.0E-06
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.700 1.000 1 2017 2017
dbSNP: rs118203901
rs118203901
LAMC2
0.925 0.080 1 183222181 stop gained C/T snv 2.1E-05
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.700 0
dbSNP: rs1558088792
rs1558088792
LAMC2
1.000 0.080 1 183218389 splice acceptor variant G/A snv
CUI: C0268374
Disease: Adult junctional epidermolysis bullosa (disorder)
Adult junctional epidermolysis bullosa (disorder) 		0.700 0
dbSNP: rs374263073
rs374263073
LAMC2
0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05
CUI: C0750901
Disease: Alzheimer Disease, Early Onset
Alzheimer Disease, Early Onset 		0.010 1.000 1 2010 2010
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0002622
Disease: Amnesia
Amnesia 		0.010 1.000 1 2010 2010
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0004134
Disease: Ataxia
Ataxia 		0.010 1.000 1 2010 2010
dbSNP: rs2276543
rs2276543
LAMC2
1 183186170 upstream gene variant G/A snv 0.27
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs3768610
rs3768610
LAMC2
1 183195338 intron variant G/A snv 8.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.010 1.000 1 2010 2010
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.050 1.000 5 1997 2019
dbSNP: rs374263073
rs374263073
LAMC2
0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.010 1.000 1 2010 2010
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.010 1.000 1 2010 2010
dbSNP: rs562010289
rs562010289
LAMC2
0.925 0.120 1 183227583 missense variant G/A;C snv 1.7E-04
CUI: C0016053
Disease: Fibromyalgia
Fibromyalgia 		0.010 1.000 1 2010 2010
dbSNP: rs80356683
rs80356683
LAMC2
1.000 0.080 1 183215467 stop gained C/T snv 4.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 5 1994 2008
dbSNP: rs118203901
rs118203901
LAMC2
0.925 0.080 1 183222181 stop gained C/T snv 2.1E-05
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 2 2002 2006
dbSNP: rs1057516473
rs1057516473
LAMC2
1.000 0.080 1 183243172 frameshift variant G/- delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2006 2006
dbSNP: rs118203899
rs118203899
LAMC2
1.000 0.080 1 183225719 stop gained C/G;T snv
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 1994 1994
dbSNP: rs1217053724
rs1217053724
LAMC2
0.925 0.080 1 183243272 stop gained C/T snv 7.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2017 2017
dbSNP: rs151190720
rs151190720
LAMC2
1.000 0.080 1 183236593 stop gained C/G;T snv 6.8E-05
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2001 2001
dbSNP: rs1553266871
rs1553266871
LAMC2
1.000 0.080 1 183231028 frameshift variant GC/- del
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2004 2004
dbSNP: rs1553267882
rs1553267882
LAMC2
1.000 0.080 1 183243192 frameshift variant GAAGCTTTCCCGAGCCAAGA/- delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2001 2001
dbSNP: rs1553267885
rs1553267885
LAMC2
1.000 0.080 1 183243228 frameshift variant A/- delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2001 2001
dbSNP: rs201307156
rs201307156
LAMC2
1.000 0.080 1 183243203 stop gained C/T snv 4.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2001 2001
dbSNP: rs753268823
rs753268823
LAMC2
1.000 0.080 1 183222115 stop gained C/T snv 4.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2004 2004
dbSNP: rs778012079
rs778012079
LAMC2
1.000 0.080 1 183232331 frameshift variant TTTCAGA/- delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 1.000 1 2006 2006