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: 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: rs886045625
rs886045625
LAMC2
1.000 0.080 1 183186353 start lost A/G snv
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1479808203
rs1479808203
LAMC2
1.000 0.080 1 183186355 start lost G/C;T snv 7.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
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: 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: 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: rs771613805
rs771613805
LAMC2
1.000 0.080 1 183207879 splice acceptor variant A/G snv 1.6E-05 1.5E-05
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1057516806
rs1057516806
LAMC2
1.000 0.080 1 183207932 frameshift variant GACA/- delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1057517353
rs1057517353
LAMC2
1.000 0.080 1 183207945 frameshift variant -/ATGGA delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1553264644
rs1553264644
LAMC2
1.000 0.080 1 183207980 frameshift variant -/T delins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
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: rs759509443
rs759509443
LAMC2
1.000 0.080 1 183208070 splice donor variant G/A snv 4.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
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: 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: rs1057516410
rs1057516410
LAMC2
1.000 0.080 1 183218489 splice donor variant G/C snv
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1553265770
rs1553265770
LAMC2
1.000 0.080 1 183220823 splice acceptor variant A/C snv
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs745512079
rs745512079
LAMC2
1.000 0.080 1 183220853 frameshift variant G/- delins 4.0E-06
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
dbSNP: rs1057516444
rs1057516444
LAMC2
1.000 0.080 1 183220880 stop gained -/AA ins
CUI: C0079683
Disease: Herlitz Disease
Herlitz Disease 		0.700 0
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: 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