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: 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: rs525410
rs525410
LAMC2
1.000 0.080 1 183207295 intron variant A/G snv 0.47
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.800 1.000 1 2011 2011
dbSNP: rs672059
rs672059
LAMC2
1 183193404 intron variant G/A snv 0.57
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.700 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: 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: 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
dbSNP: rs767181086
rs767181086
LAMC2
0.827 0.240 1 183220922 stop gained G/A;T snv 8.0E-06; 4.0E-06
CUI: C0751295
Disease: Memory Loss
Memory Loss 		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: C0037317
Disease: Sleep disturbances
Sleep disturbances 		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: 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: rs1057516444
rs1057516444
LAMC2
1.000 0.080 1 183220880 stop gained -/AA ins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0