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: 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: 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: 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: rs1168634503
rs1168634503
LAMC2
1.000 0.080 1 183186431 missense variant G/A snv
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa 		0.010 1.000 1 2014 2014
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: rs118203900
rs118203900
LAMC2
1.000 0.080 1 183228564 stop gained C/A snv
CUI: C0026499
Disease: Monosomy
Monosomy 		0.010 1.000 1 2000 2000
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: rs201308300
rs201308300
LAMC2
1.000 1 183227579 stop gained C/A snv 2.0E-05
CUI: C3151140
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2D
PONTOCEREBELLAR HYPOPLASIA, TYPE 2D 		0.010 1.000 1 2015 2015
dbSNP: rs374263073
rs374263073
LAMC2
0.925 0.120 1 183222116 missense variant G/A;T snv 1.2E-05
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.010 1.000 1 2010 2010
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: 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: rs562010289
rs562010289
LAMC2
0.925 0.120 1 183227583 missense variant G/A;C snv 1.7E-04
CUI: C0038436
Disease: Post-Traumatic Stress Disorder
Post-Traumatic Stress Disorder 		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: rs746487237
rs746487237
LAMC2
1 183208049 missense variant C/A;T snv 4.0E-06; 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		0.010 1.000 1 2008 2008
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: 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: C0162534
Disease: Prion Diseases
Prion Diseases 		0.010 1.000 1 2019 2019
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C4310512
Disease: Sporadic CJD
Sporadic CJD 		0.010 1.000 1 2019 2019
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: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C2900450
Disease: Other Creutzfeldt-Jakob disease
Other Creutzfeldt-Jakob disease 		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: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.010 1.000 1 2010 2010