rs730882250, DPH1

N. diseases: 5
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.
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
CUI: C4310801
Disease: DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR
3 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.800 0
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
26 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
Dandy-Walker Syndrome
CUI: C0010964
Disease: Dandy-Walker Syndrome
9 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0