COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: Tonometry ×
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: rs143937055
rs143937055 		2 227279251 intron variant GTT/-;GTTGTT delins 0.31
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2017 2017
dbSNP: rs4608502
rs4608502 		2 227269439 intron variant T/A;C snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018