Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C0040822
Disease: Tremor
Tremor 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs564856283
rs564856283
MYBPC1
12 101642495 missense variant G/A;C snv 3.2E-05
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		0.700 0