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: rs312262830
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 2 2008 2014
dbSNP: rs312262830
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C2749019
Disease: JOUBERT SYNDROME 10 (disorder)
JOUBERT SYNDROME 10 (disorder) 		0.700 1.000 2 2008 2014
dbSNP: rs312262830
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.700 1.000 1 2008 2008
dbSNP: rs312262830
rs312262830
OFD1
0.882 0.160 X 13739017 frameshift variant GAAA/- delins
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.700 1.000 1 2008 2008