rs1559931177, QRICH1

N. diseases: 34
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.
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
57 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Bradycardia
CUI: C0428977
Disease: Bradycardia
2 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Decreased muscle mass
CUI: C1837108
Disease: Decreased muscle mass
12 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Decreased tendon reflex
CUI: C0700078
Disease: Decreased tendon reflex
13 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Decreased vibratory sense
CUI: C1295585
Disease: Decreased vibratory sense
8 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Developmental stagnation
CUI: C1848980
Disease: Developmental stagnation
2 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Gastrointestinal dysmotility
CUI: C1836923
Disease: Gastrointestinal dysmotility
13 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Intermittent painful muscle spasms
CUI: C4023104
Disease: Intermittent painful muscle spasms
1 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Mitochondrial respiratory chain defects
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
4 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Nasal, dysarthic speech
CUI: C1834664
Disease: Nasal, dysarthic speech
3 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Peripheral Neuropathy
CUI: C0031117
Disease: Peripheral Neuropathy
81 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Progressive inability to walk
CUI: C1836843
Disease: Progressive inability to walk
3 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0
Prolonged neonatal jaundice
CUI: C1859236
Disease: Prolonged neonatal jaundice
14 0.827 0.120 3 49047207 stop gained G/A snv 0.700 0