rs368869806, PTCH1

N. diseases: 97
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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormal Descemet membrane morphology
CUI: C4023330
Disease: Abnormal Descemet membrane morphology
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormal retinal morphology
CUI: C0035300
Disease: Abnormal retinal morphology
8 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormal uvea morphology
CUI: C4025842
Disease: Abnormal uvea morphology
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormality of dental eruption
CUI: C1859363
Disease: Abnormality of dental eruption
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Anomalous branches of internal carotid artery
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Anterior segment mesenchymal dysgenesis
CUI: C1862839
Disease: Anterior segment mesenchymal dysgenesis
2 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Aphakia, congenital primary
CUI: C1853230
Disease: Aphakia, congenital primary
7 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Aplasia/Hypoplasia of the mandible
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Appendicular hypotonia
CUI: C4022919
Disease: Appendicular hypotonia
8 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
124 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Bilateral microphthalmos
CUI: C1843496
Disease: Bilateral microphthalmos
11 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
43 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Broad first metatarsal
CUI: C1855899
Disease: Broad first metatarsal
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Cerebral Hemorrhage
CUI: C2937358
Disease: Cerebral Hemorrhage
78 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Congenital hypoplasia of kidney
CUI: C0266295
Disease: Congenital hypoplasia of kidney
8 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
6 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Contracture of the distal interphalangeal joint of the fingers
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Defect of skull ossification
CUI: C0432073
Disease: Defect of skull ossification
1 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0
Deformity of lower limb
CUI: C1096086
Disease: Deformity of lower limb
5 0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 0.700 0