rs797044884, PTRH2;CLTC

N. diseases: 4
Source: CLINVAR ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 17 59677123 frameshift variant -/GA delins 0.700 1.000 23 1976 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
CUI: C4693389
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 56
6 0.925 17 59677123 frameshift variant -/GA delins 0.700 0