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: 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: rs752650571
rs752650571 		1.000 0.120 7 155803702 missense variant C/T snv 4.4E-06
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
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: rs780893190
rs780893190 		1.000 0.080 7 155803713 synonymous variant C/T snv 8.8E-06 3.5E-05
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		Neoplasms; Infections 0.010 1.000 1 2017 2017
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: rs556192490
rs556192490 		1.000 0.120 7 155803465 missense variant G/A;T snv 1.3E-05; 8.5E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
dbSNP: rs137853341
rs137853341 		1.000 0.120 7 155803142 missense variant C/T snv 1.4E-05 1.4E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009
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: 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: rs779093031
rs779093031 		1.000 0.120 7 155811909 stop gained G/A;T snv 1.6E-05 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: rs104894048
rs104894048 		0.925 0.120 7 155803019 missense variant G/C;T snv 3.7E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
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: rs104894043
rs104894043 		0.925 0.120 7 155803613 missense variant C/T snv 4.4E-05 5.6E-05
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 12 1996 2009
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: rs104894047
rs104894047 		1.000 0.120 7 155803420 missense variant C/T snv 3.3E-03 2.0E-03
CUI: C1840529
Disease: HOLOPROSENCEPHALY 3
HOLOPROSENCEPHALY 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 12 1996 2009