SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO ×
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: rs1064793003
rs1064793003 		15 66703925 stop gained C/T snv 7.0E-06
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1085307122
rs1085307122 		15 66781078 frameshift variant G/- del
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs761888345
rs761888345 		1.000 15 66781437 missense variant C/T snv 5.6E-05 1.4E-05
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0