rs794727931, ALG8

N. diseases: 19
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 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Aplasia/hypoplasia of the proximal phalanx of the 5th toe
CUI: C4022114
Disease: Aplasia/hypoplasia of the proximal phalanx of the 5th toe
1 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Apnea
CUI: C0003578
Disease: Apnea
11 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Congenital disorder of glycosylation type 1H
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
8 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Cyanosis
CUI: C0010520
Disease: Cyanosis
2 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Fetal Distress
CUI: C0015930
Disease: Fetal Distress
1 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
21 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Macroglossia
CUI: C0024421
Disease: Macroglossia
2 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Motor retardation
CUI: C0424230
Disease: Motor retardation
8 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Partial thromboplastin time increased (finding)
CUI: C0240671
Disease: Partial thromboplastin time increased (finding)
1 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.790 0.240 11 78112692 missense variant A/C snv 0.700 0