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.
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
CUI: C3276228
Disease: ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE
5 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
18 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
47 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Hydrops Fetalis
CUI: C0020305
Disease: Hydrops Fetalis
8 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Microcornea
CUI: C0266544
Disease: Microcornea
3 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.752 0.480 17 68530405 stop gained C/T snv 0.700 0