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: rs121908595
rs121908595
MAP2K1
0.827 0.280 15 66436843 missense variant A/G snv 4.0E-06
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.700 1.000 7 2006 2009