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: rs786200930
rs786200930
LRSAM1
0.925 0.080 9 127502846 frameshift variant -/GC delins
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.710 1.000 0 2017 2017
dbSNP: rs756880678
rs756880678
LRSAM1
0.925 0.080 9 127501009 splice acceptor variant G/A snv 2.0E-05 2.8E-05
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.700 0