rs750195040, POMT1

N. diseases: 12
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.
Abnormality of the face
CUI: C4025871
Disease: Abnormality of the face
24 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Abnormality of the outer ear
CUI: C1846460
Disease: Abnormality of the outer ear
8 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
45 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Congenital ear anomaly NOS (disorder)
5 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
21 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0
Small for gestational age (disorder)
34 0.827 0.160 9 131506164 inframe deletion CTT/- delins 3.2E-05 7.0E-06 0.700 0