Source: ALL

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: rs11658743
rs11658743
TIMP2 ; CEP295NL
1.000 0.040 17 78877679 intron variant T/C snv 0.17
CUI: C0595995
Disease: Idiopathic scoliosis
Idiopathic scoliosis 		0.010 < 0.001 1 2019 2019