rs1202430946, IGHMBP2

N. diseases: 17
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.
Abnormality of the calf musculature
CUI: C4021779
Disease: Abnormality of the calf musculature
2 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Anterior Horn Cell Disease
CUI: C0154681
Disease: Anterior Horn Cell Disease
1 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Bilateral coxa valga
CUI: C3810018
Disease: Bilateral coxa valga
3 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
CUI: C4015349
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
32 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Distal lower limb muscle weakness
CUI: C1836450
Disease: Distal lower limb muscle weakness
11 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Distal upper limb muscle weakness
CUI: C3150620
Disease: Distal upper limb muscle weakness
3 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
EEG with abnormally slow frequencies
CUI: C4023471
Disease: EEG with abnormally slow frequencies
1 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Foot Deformities
CUI: C0016506
Disease: Foot Deformities
5 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Hypoplastic feet
CUI: C1848673
Disease: Hypoplastic feet
21 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Joint laxity
CUI: C0086437
Disease: Joint laxity
15 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Lordosis
CUI: C0024003
Disease: Lordosis
15 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Migraine with Aura
CUI: C0154723
Disease: Migraine with Aura
56 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Motor axonal neuropathy
CUI: C2749625
Disease: Motor axonal neuropathy
4 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0
Vitamin D Deficiency
CUI: C0042870
Disease: Vitamin D Deficiency
37 0.827 0.080 11 68930251 non coding transcript exon variant C/A;T snv 1.4E-05 0.700 0