Source: CLINVAR

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: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0877024
Disease: Schimke immunoosseous dysplasia
Schimke immunoosseous dysplasia 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs864309531
rs864309531
SMARCAL1
0.882 0.400 2 216423668 stop gained G/T snv
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		0.700 0