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: rs1553403917
rs1553403917
ALMS1
0.807 0.320 2 73451171 frameshift variant -/A delins
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 1.000 1 2018 2018