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: rs1558939623
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.700 0