CAST, calpastatin, 831

N. diseases: 141; N. variants: 31
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1277121650
rs1277121650
5 96746364 missense variant T/C snv 7.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch
Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs1355799280
rs1355799280
5 96742749 missense variant T/C snv 7.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch
Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs750877321
rs750877321
5 96741291 missense variant T/C snv 1.2E-05
CUI: C0234233
Disease: Sore to touch
Sore to touch
Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs774652019
rs774652019
5 96765222 splice acceptor variant A/G;T snv 8.1E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch
Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs779255105
rs779255105
5 96762316 missense variant G/A snv 4.0E-06
CUI: C0234233
Disease: Sore to touch
Sore to touch
Pathological Conditions, Signs and Symptoms; Mental Disorders 0.010 1.000 1 2014 2014