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: rs1131692270
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.700 0
dbSNP: rs1131692270
rs1131692270
POGZ
1.000 0.160 1 151412327 missense variant T/C snv
CUI: C4225351
Disease: White Sutton syndrome
White Sutton syndrome 		0.700 0