rs1202301143
|
1.000 |
|
7 |
16091736 |
stop gained |
C/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs1282788711
|
1.000 |
|
7 |
16376100 |
missense variant |
A/G
|
snv
|
1.4E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs1554305719
|
0.925 |
|
7 |
16278176 |
frameshift variant |
TATCTTCTTCTGT/-
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs1554305719
|
0.925 |
|
7 |
16278176 |
frameshift variant |
TATCTTCTTCTGT/-
|
delins
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
|
0 |
|
|
rs1554320168
|
1.000 |
0.120 |
7 |
16308590 |
frameshift variant |
A/-
|
delins
|
|
|
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs368593151
|
1.000 |
|
7 |
16301454 |
stop gained |
G/A
|
snv
|
4.0E-06
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs387907161
|
1.000 |
|
7 |
16301424 |
stop gained |
T/A
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs397514548
|
1.000 |
|
7 |
16421067 |
stop gained |
T/A;C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs397515397
|
1.000 |
|
7 |
16308521 |
splice donor variant |
A/C
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
|
0 |
|
|
rs587777798
|
0.925 |
|
7 |
16258393 |
inframe insertion |
ACA/-;ACAACA
|
delins
|
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
|
0 |
|
|
rs587777798
|
0.925 |
|
7 |
16258393 |
inframe insertion |
ACA/-;ACAACA
|
delins
|
|
4.2E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8
|
|
0.700 |
|
0 |
|
|
rs1388044873
|
|
|
7 |
16249276 |
intron variant |
G/A;C
|
snv
|
|
|
High density lipoprotein measurement
|
|
0.700 |
1.000 |
1 |
2018 |
2018 |
rs186882839
|
1.000 |
|
7 |
16091697 |
stop lost |
A/G;T
|
snv
|
2.5E-05
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs397515398
|
0.925 |
|
7 |
16406316 |
inframe deletion |
AAT/-
|
del
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
1989 |
1989 |
rs397515398
|
0.925 |
|
7 |
16406316 |
inframe deletion |
AAT/-
|
del
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
1989 |
1989 |
rs767978961
|
0.925 |
|
7 |
16406338 |
splice acceptor variant |
C/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs767978961
|
0.925 |
|
7 |
16406338 |
splice acceptor variant |
C/G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs773325665
|
0.925 |
|
7 |
16301419 |
splice donor variant |
A/G
|
snv
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs773325665
|
0.925 |
|
7 |
16301419 |
splice donor variant |
A/G
|
snv
|
1.6E-05
|
4.9E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs397515396
|
0.925 |
|
7 |
16216198 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs397515396
|
0.925 |
|
7 |
16216198 |
splice acceptor variant |
C/A;T
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
2 |
2012 |
2013 |
rs886041302
|
0.925 |
|
7 |
16421269 |
frameshift variant |
-/A
|
delins
|
|
1.3E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7
|
|
0.700 |
1.000 |
2 |
1990 |
2012 |
rs886041302
|
0.925 |
|
7 |
16421269 |
frameshift variant |
-/A
|
delins
|
|
1.3E-04
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
2 |
1990 |
2012 |
rs587777797
|
1.000 |
|
7 |
16421162 |
missense variant |
C/A;G
|
snv
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.800 |
1.000 |
3 |
2013 |
2017 |
rs1289931198
|
1.000 |
|
7 |
16376099 |
missense variant |
T/C
|
snv
|
|
1.4E-05
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7
|
|
0.700 |
1.000 |
3 |
2013 |
2017 |