Source: UNIPROT

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: rs146092501
rs146092501
COL6A3
1.000 0.120 2 237371861 missense variant C/T snv 6.2E-03 5.9E-03
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 1.000 4 1998 2007