SHH, sonic hedgehog signaling molecule, 6469

N. diseases: 303; N. variants: 44
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: rs104894040
rs104894040 		0.882 0.160 7 155806509 missense variant A/C;G snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894042
rs104894042 		0.925 0.120 7 155803618 missense variant A/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894043
rs104894043 		0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894044
rs104894044 		0.925 0.120 7 155811825 stop gained G/A snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894044
rs104894044 		0.925 0.120 7 155811825 stop gained G/A snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894045
rs104894045 		0.925 0.120 7 155806545 stop gained T/A snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894045
rs104894045 		0.925 0.120 7 155806545 stop gained T/A snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894046
rs104894046 		0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894046
rs104894046 		0.925 0.120 7 155803439 stop gained C/A;T snv 1.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894048
rs104894048 		0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894050
rs104894050 		0.925 0.120 7 155811860 missense variant T/A snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894051
rs104894051 		0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894051
rs104894051 		0.925 0.120 7 155803523 stop gained C/A;G snv 1.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894053
rs104894053 		0.925 0.160 7 155806475 stop gained C/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894053
rs104894053 		0.925 0.160 7 155806475 stop gained C/T snv
CUI: C1840235
Disease: SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases 0.700 0
dbSNP: rs1057518660
rs1057518660 		1.000 0.120 7 155803005 frameshift variant G/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1347054935
rs1347054935 		1.000 0.120 7 155803595 missense variant G/C snv 8.8E-06 1.4E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1420292012
rs1420292012 		1.000 0.120 7 155803493 missense variant G/A;T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs146990376
rs146990376 		1.000 0.120 7 155806384 stop gained G/A;C snv 1.2E-05
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554493607
rs1554493607 		1.000 0.120 7 155802982 stop gained G/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554493810
rs1554493810 		1.000 0.120 7 155803416 frameshift variant GAGCCCGAGGACGCCTCGGGCTC/- delins
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554495331
rs1554495331 		1.000 0.120 7 155811980 frameshift variant A/- del
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs267607047
rs267607047 		0.925 0.120 7 155806513 missense variant G/A;T snv 4.0E-06
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28936675
rs28936675 		0.925 0.120 7 155812032 missense variant C/T snv
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs28936675
rs28936675 		0.925 0.120 7 155812032 missense variant C/T snv
CUI: C0079541
Disease: Holoprosencephaly
Holoprosencephaly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0