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: rs1554297905
rs1554297905
RALA
0.882 0.160 7 39686740 missense variant G/A snv
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 1.000 1 2018 2018