WNT1, Wnt family member 1, 7471

N. diseases: 216; N. variants: 12
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV ×
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: rs387907358
rs387907358 		1.000 12 48981590 missense variant G/T snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.800 0
dbSNP: rs1555178899
rs1555178899 		0.925 12 48978757 splice region variant AGTGAGCTGGTGCGGGGTCGCCACTTGTCCCGCGGCACAGA/- delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0
dbSNP: rs387907353
rs387907353 		1.000 12 48981380 splice acceptor variant -/C delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0
dbSNP: rs387907354
rs387907354 		1.000 12 48980693 splice region variant A/G snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0
dbSNP: rs387907355
rs387907355 		1.000 12 48980630 stop gained G/A;T snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0
dbSNP: rs387907356
rs387907356 		1.000 12 48981411 stop gained C/A snv
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0
dbSNP: rs387907357
rs387907357 		1.000 12 48981472 frameshift variant -/AACA delins
CUI: C3808844
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV
OSTEOGENESIS IMPERFECTA, TYPE XV 		0.700 0