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: rs59026483
rs59026483
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
Hereditary Motor and Sensory-Neuropathy Type II
0.700 1.000 8 2002 2015
dbSNP: rs59026483
rs59026483
0.827 0.160 1 156134457 missense variant C/T snv 7.0E-06
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
0.700 0