ALX4, ALX homeobox 4, 60529

N. diseases: 129; N. variants: 18
Disease: FRONTONASAL DYSPLASIA 2 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs267606653
rs267606653 		0.925 11 44267607 stop gained G/A snv
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0
dbSNP: rs587777701
rs587777701 		1.000 11 44275452 missense variant G/C snv
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0
dbSNP: rs869320717
rs869320717 		0.925 0.120 11 44309772 frameshift variant C/- del
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0
dbSNP: rs876657391
rs876657391 		1.000 11 44275622 frameshift variant G/- delins
CUI: C3150703
Disease: FRONTONASAL DYSPLASIA 2
FRONTONASAL DYSPLASIA 2 		0.700 0