ARSL, arylsulfatase L, 415

N. diseases: 49; N. variants: 13
Disease: Chondrodysplasia Punctata ×
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: rs122460151
rs122460151 		0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05
CUI: C0008445
Disease: Chondrodysplasia Punctata
Chondrodysplasia Punctata 		Musculoskeletal Diseases 0.010 < 0.001 1 1999 1999