rs80338957, SCN4A

N. diseases: 11
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.
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
30 0.776 0.160 17 63957427 missense variant G/A snv 0.850 1.000 15 1991 2019
Paramyotonia Congenita (disorder)
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
26 0.776 0.160 17 63957427 missense variant G/A snv 0.840 1.000 20 1992 2019
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
27 0.776 0.160 17 63957427 missense variant G/A snv 0.700 1.000 8 1991 2015
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
24 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
Hypokalemic Periodic Paralysis, Type 2
CUI: C2750061
Disease: Hypokalemic Periodic Paralysis, Type 2
15 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
MYASTHENIC SYNDROME, CONGENITAL, 16
CUI: C3280112
Disease: MYASTHENIC SYNDROME, CONGENITAL, 16
10 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
CUI: C1858891
Disease: PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS
4 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
Potassium aggravated myotonia
CUI: C2931826
Disease: Potassium aggravated myotonia
18 0.776 0.160 17 63957427 missense variant G/A snv 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.776 0.160 17 63957427 missense variant G/A snv 0.010 1.000 1 1994 1994
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
3 0.776 0.160 17 63957427 missense variant G/A snv 0.010 1.000 1 2018 2018
Paresis
CUI: C0030552
Disease: Paresis
49 0.776 0.160 17 63957427 missense variant G/A snv 0.010 1.000 1 1994 1994