rs797045412, BICD2

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.
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
3 0.776 0.280 9 92718565 missense variant G/A;T snv 0.800 1.000 3 2016 2018
Abnormality of the genital system
CUI: C0744356
Disease: Abnormality of the genital system
4 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Bell-shaped thorax
CUI: C1865186
Disease: Bell-shaped thorax
7 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Early severe fetal akinesia sequence
CUI: C3151520
Disease: Early severe fetal akinesia sequence
15 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
37 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Hypoplastic labia minora
CUI: C1849295
Disease: Hypoplastic labia minora
1 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Pachygyria
CUI: C0266483
Disease: Pachygyria
8 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Polyhydramnios
CUI: C0020224
Disease: Polyhydramnios
28 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
14 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Tapering fingers (finding)
CUI: C0426886
Disease: Tapering fingers (finding)
19 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0
Vertical Talus
CUI: C0240912
Disease: Vertical Talus
20 0.776 0.280 9 92718565 missense variant G/A;T snv 0.700 0