rs369160589, ALG1

N. diseases: 35
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.
Congenital disorder of glycosylation type 1K
CUI: C2931005
Disease: Congenital disorder of glycosylation type 1K
27 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 1.000 2 2016 2017
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Abnormally lax or hyperextensible skin
CUI: C4024736
Disease: Abnormally lax or hyperextensible skin
53 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Actual Aspiration
CUI: C2712334
Disease: Actual Aspiration
8 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
38 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
29 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Downturned corners of mouth
CUI: C1866195
Disease: Downturned corners of mouth
14 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Dysphasia
CUI: C0973461
Disease: Dysphasia
4 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Encephalopathy, CTCAE 3.0
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
24 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Exophthalmos
CUI: C0015300
Disease: Exophthalmos
12 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Moderate intrauterine growth retardation
CUI: C4023370
Disease: Moderate intrauterine growth retardation
3 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Neurogenic Urinary Bladder
CUI: C0005697
Disease: Neurogenic Urinary Bladder
9 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Premature adrenarche
CUI: C0342546
Disease: Premature adrenarche
11 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 0.700 0