rs913477149, RFT1

N. diseases: 13
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.
Abnormal isoelectric focusing of serum transferrin
CUI: C2749688
Disease: Abnormal isoelectric focusing of serum transferrin
10 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
67 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Congenital Disorder Of Glycosylation, Type In
CUI: C2677590
Disease: Congenital Disorder Of Glycosylation, Type In
10 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Facial hemangioma
CUI: C1861443
Disease: Facial hemangioma
2 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Long face
CUI: C1836047
Disease: Long face
12 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Reduced factor XI activity
CUI: C4317093
Disease: Reduced factor XI activity
1 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Strabismus
CUI: C0038379
Disease: Strabismus
89 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
Thick vermilion border
CUI: C1836543
Disease: Thick vermilion border
15 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0
West Syndrome
CUI: C0037769
Disease: West Syndrome
28 0.851 0.160 3 53105728 missense variant T/A;C snv 0.700 0