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: rs587777819
rs587777819
POMT1
0.925 0.120 9 131523038 frameshift variant TC/-;TCTC delins 7.0E-06
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 1.000 1 2007 2007