rs28931591, CHRNA4

N. diseases: 4
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.
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
CUI: C3696898
Disease: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
8 0.882 0.160 20 63350560 missense variant G/A snv 0.720 1.000 6 1999 2012
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.160 20 63350560 missense variant G/A snv 0.700 1.000 9 1999 2013
ACTH Deficiency, Isolated
CUI: C0271583
Disease: ACTH Deficiency, Isolated
11 0.882 0.160 20 63350560 missense variant G/A snv 0.700 0
Epilepsy, Nocturnal Frontal Lobe, Type 1
CUI: C1838049
Disease: Epilepsy, Nocturnal Frontal Lobe, Type 1
2 0.882 0.160 20 63350560 missense variant G/A snv 0.700 0