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: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0008519
Disease: Ectopic Tissue
Ectopic Tissue 		0.700 1.000 3 1999 2003
dbSNP: rs113994198
rs113994198
PAFAH1B1
0.925 0.080 17 2666053 frameshift variant A/-;AA delins
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 1.000 3 1999 2003