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: rs387906781
rs387906781
MYLK ; MYLK-AS1
0.925 3 123620300 missense variant A/G snv
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.800 1.000 1 2010 2010
dbSNP: rs368390254
rs368390254
MYLK
1.000 3 123682239 missense variant C/A;G;T snv 4.4E-06; 4.4E-05; 1.0E-04
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 4 2010 2015