COL13A1, collagen type XIII alpha 1 chain, 1305

N. diseases: 139; N. variants: 8
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19 ×
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: rs1554943789
rs1554943789 		1.000 10 69897533 splice donor variant T/C snv
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.700 0
dbSNP: rs864309662
rs864309662 		1.000 10 69922768 frameshift variant G/- delins
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.700 0
dbSNP: rs864309663
rs864309663 		1.000 10 69888303 splice region variant G/- delins
CUI: C4225235
Disease: MYASTHENIC SYNDROME, CONGENITAL, 19
MYASTHENIC SYNDROME, CONGENITAL, 19 		0.700 0