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: rs201431517
rs201431517
MTFMT
0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 1.000 2 2011 2014