rs780893190
|
1.000 |
0.080 |
7 |
155803713 |
synonymous variant |
C/T
|
snv
|
8.8E-06
|
3.5E-05
|
Merkel cell carcinoma
|
Neoplasms; Infections
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs104894042
|
0.925 |
0.120 |
7 |
155803618 |
missense variant |
A/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1996 |
2009 |
rs104894043
|
0.925 |
0.120 |
7 |
155803613 |
missense variant |
C/T
|
snv
|
4.4E-05
|
5.6E-05
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1996 |
2009 |
rs104894047
|
1.000 |
0.120 |
7 |
155803420 |
missense variant |
C/T
|
snv
|
3.3E-03
|
2.0E-03
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs104894048
|
0.925 |
0.120 |
7 |
155803019 |
missense variant |
G/C;T
|
snv
|
3.7E-05
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1996 |
2009 |
rs104894050
|
0.925 |
0.120 |
7 |
155811860 |
missense variant |
T/A
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1996 |
2009 |
rs137853341
|
1.000 |
0.120 |
7 |
155803142 |
missense variant |
C/T
|
snv
|
1.4E-05
|
1.4E-05
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs1412744230
|
1.000 |
0.120 |
7 |
155803043 |
missense variant |
T/C
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs1428916820
|
1.000 |
0.120 |
7 |
155812007 |
missense variant |
A/G
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs1554494372
|
1.000 |
0.120 |
7 |
155806390 |
missense variant |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs267607047
|
0.925 |
0.120 |
7 |
155806513 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.800 |
1.000 |
12 |
1996 |
2009 |
rs556192490
|
1.000 |
0.120 |
7 |
155803465 |
missense variant |
G/A;T
|
snv
|
1.3E-05;
8.5E-05
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs587778792
|
0.925 |
0.120 |
7 |
155811823 |
missense variant |
C/G
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs587778799
|
0.925 |
0.120 |
7 |
155806296 |
missense variant |
C/G
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs587778805
|
0.925 |
0.120 |
7 |
155803625 |
missense variant |
C/T
|
snv
|
|
7.0E-06
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs587778806
|
0.925 |
0.120 |
7 |
155803581 |
missense variant |
G/T
|
snv
|
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs752650571
|
1.000 |
0.120 |
7 |
155803702 |
missense variant |
C/T
|
snv
|
4.4E-06
|
|
HOLOPROSENCEPHALY 3
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
1.000 |
12 |
1996 |
2009 |
rs104894049
|
0.925 |
0.120 |
7 |
155806527 |
missense variant |
T/A
|
snv
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
0.810 |
1.000 |
3 |
2001 |
2006 |
rs104894049
|
0.925 |
0.120 |
7 |
155806527 |
missense variant |
T/A
|
snv
|
|
|
Carcinoma, Basal Cell
|
Neoplasms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs104894049
|
0.925 |
0.120 |
7 |
155806527 |
missense variant |
T/A
|
snv
|
|
|
Experimental Organism Basal Cell Carcinoma
|
Neoplasms
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1233560
|
1.000 |
0.120 |
7 |
155800744 |
3 prime UTR variant |
G/A
|
snv
|
|
0.49
|
Carcinoma of urinary bladder, invasive
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs208684
|
1.000 |
0.120 |
7 |
155814463 |
upstream gene variant |
C/A
|
snv
|
|
0.75
|
Bladder cancer stage IV
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs587778792
|
0.925 |
0.120 |
7 |
155811823 |
missense variant |
C/G
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs587778799
|
0.925 |
0.120 |
7 |
155806296 |
missense variant |
C/G
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.710 |
1.000 |
1 |
2005 |
2005 |
rs104894042
|
0.925 |
0.120 |
7 |
155803618 |
missense variant |
A/T
|
snv
|
|
|
Holoprosencephaly
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|