rs1568019012, LAMA1

N. diseases: 13
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.
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
395 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
12 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Cerebellar cyst
CUI: C1847762
Disease: Cerebellar cyst
3 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Cerebellar dysplasia
CUI: C3278322
Disease: Cerebellar dysplasia
1 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Oculomotor apraxia
CUI: C3489733
Disease: Oculomotor apraxia
14 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Poor coordination
CUI: C0563243
Disease: Poor coordination
8 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Reduced tendon reflexes
CUI: C1866934
Disease: Reduced tendon reflexes
8 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Severe expressive language delay
CUI: C1851085
Disease: Severe expressive language delay
7 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Severe receptive language delay
CUI: C3532947
Disease: Severe receptive language delay
4 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0
Velopharyngeal Insufficiency
CUI: C0042454
Disease: Velopharyngeal Insufficiency
6 0.790 0.360 18 6985616 stop gained G/A snv 0.700 0