rs121912855, COL7A1

N. diseases: 16
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hallopeau-Siemens Disease
CUI: C0079474
Disease: Hallopeau-Siemens Disease
54 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 14 1993 2010
Abnormal blistering of the skin
CUI: C2132198
Disease: Abnormal blistering of the skin
10 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Abnormality of dental enamel
CUI: C4021800
Disease: Abnormality of dental enamel
4 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Cicatrization
CUI: C0008767
Disease: Cicatrization
3 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Distal muscle weakness
CUI: C0427065
Disease: Distal muscle weakness
16 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Epidermolysis Bullosa Dystrophica Inversa, Autosomal Recessive
4 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Hyperpigmentation
CUI: C0162834
Disease: Hyperpigmentation
11 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Loss of scalp hair
CUI: C0574769
Disease: Loss of scalp hair
4 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Scarring alopecia of scalp
CUI: C3806301
Disease: Scarring alopecia of scalp
3 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.851 0.200 3 48575218 missense variant G/A snv 2.0E-05 7.0E-06 0.700 0