rs765243124, COL17A1

N. diseases: 14
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.
Abnormal blistering of the skin
CUI: C2132198
Disease: Abnormal blistering of the skin
10 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Abnormality of skin morphology
CUI: C4023528
Disease: Abnormality of skin morphology
2 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Constipation
CUI: C0009806
Disease: Constipation
57 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Discolored lateral incisors
CUI: C1866510
Disease: Discolored lateral incisors
1 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Dystrophia unguium
CUI: C0221260
Disease: Dystrophia unguium
9 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Generalized abnormality of skin
CUI: C4021157
Disease: Generalized abnormality of skin
1 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Hyperkeratotic papule
CUI: C2047516
Disease: Hyperkeratotic papule
1 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Irregular dentition
CUI: C1856765
Disease: Irregular dentition
1 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
CUI: C3277900
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4
13 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Pterygium of nail
CUI: C0406438
Disease: Pterygium of nail
1 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Skin Abnormalities
CUI: C0037268
Disease: Skin Abnormalities
16 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0
Sparse scalp hair
CUI: C1857042
Disease: Sparse scalp hair
7 0.827 0.160 10 104033953 frameshift variant CTCT/- delins 4.0E-06 0.700 0