COL7A1, collagen type VII alpha 1 chain, 1294

N. diseases: 160; N. variants: 87
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912832
rs121912832 		0.882 0.080 3 48575512 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 4 1986 2015
dbSNP: rs74780677
rs74780677 		3 48564341 3 prime UTR variant A/G snv 1.5E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518863
rs1057518863 		0.925 0.120 3 48567190 missense variant C/A;T snv
CUI: C4024876
Disease: Palmoplantar blistering
Palmoplantar blistering 		0.700 0
dbSNP: rs121912834
rs121912834 		0.827 0.120 3 48572941 missense variant C/G;T snv 4.0E-06
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912837
rs121912837 		1.000 0.080 3 48573047 missense variant C/G;T snv
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912845
rs121912845 		1.000 3 48580301 missense variant G/A snv 2.1E-05 7.0E-06
CUI: C4015945
Disease: EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912847
rs121912847 		1.000 3 48581271 stop gained G/A snv 7.0E-06
CUI: C1853063
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs121912848
rs121912848 		3 48575125 missense variant C/A snv
CUI: C2675780
Disease: EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT
EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs121912854
rs121912854 		0.851 0.200 3 48592915 stop gained G/A snv 1.2E-05 7.0E-06
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C3806301
Disease: Scarring alopecia of scalp
Scarring alopecia of scalp 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0
dbSNP: rs121912855
rs121912855 		0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		0.700 0
dbSNP: rs121912856
rs121912856 		0.732 0.120 3 48593538 missense variant T/C snv 3.2E-05 9.1E-05
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4 		0.700 0
dbSNP: rs144023803
rs144023803 		0.776 0.120 3 48590721 stop gained G/A snv 3.6E-05 2.1E-05
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		0.700 0