HPCA, hippocalcin, 3208

N. diseases: 24; N. variants: 4
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: rs550921485
rs550921485
1.000 0.080 1 32893848 missense variant G/A snv 4.9E-04 7.0E-05
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs574658589
rs574658589
1 32888928 synonymous variant C/T snv 1.2E-05
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs775863165
rs775863165
1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs786205675
rs786205675
1.000 0.080 1 32889123 missense variant C/A snv
CUI: C0393593
Disease: Dystonia Disorders
Dystonia Disorders
Nervous System Diseases 0.010 1.000 1 2019 2019