rs863225045, ALDH18A1

N. diseases: 15
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.
CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
3 0.790 0.360 10 95637327 missense variant C/A;T snv 0.800 0
Adducted thumb
CUI: C3554617
Disease: Adducted thumb
5 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Brisk reflexes
CUI: C2673700
Disease: Brisk reflexes
7 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Cataract
CUI: C0086543
Disease: Cataract
124 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
De Barsy syndrome
CUI: C0268354
Disease: De Barsy syndrome
12 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Joint hyperflexibility
CUI: C3553764
Disease: Joint hyperflexibility
12 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Late closure of anterior fontanel
CUI: C3840083
Disease: Late closure of anterior fontanel
2 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0
Postnatal growth retardation
CUI: C1859778
Disease: Postnatal growth retardation
11 0.790 0.360 10 95637327 missense variant C/A;T snv 0.700 0