rs387906271, CHD7

N. diseases: 11
Source: INFERRED ×
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 sense of smell
CUI: C4021655
Disease: Abnormality of the sense of smell
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Absent earlobe
CUI: C1849364
Disease: Absent earlobe
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Bilateral Cryptorchidism
CUI: C0431663
Disease: Bilateral Cryptorchidism
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
CHARGE Syndrome
CUI: C0265354
Disease: CHARGE Syndrome
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Cleft palate and bilateral cleft lip
CUI: C1398522
Disease: Cleft palate and bilateral cleft lip
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
CUI: C3552553
Disease: HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Micropenis
CUI: C4551492
Disease: Micropenis
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Mild hearing impairment
CUI: C4022758
Disease: Mild hearing impairment
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0
Severe hearing loss
CUI: C3874334
Disease: Severe hearing loss
0.790 0.320 8 60801598 splice region variant G/C snv 0.700 0