visual system homeobox 1 [Source:HGNC Symbol;Acc:12723]
20
25051521
25062996
-1
p11.21
25051521
25062767
VSX1
VSX1-003
HGNC Symbol
HGNC transcript name
10
46.77
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
30813
12723
VSX1
NM_001256272
27522
MSeqDR Master Exome Data Set M1: 272 entries from same gene
No.
Chr
Position
Reference
Variant
EnsemblTranscriptID
EnsemblGeneID
Gene_Start
Gene_End
EnsemblProteinID
Gene
strand
Uniprot
cChange
pChange
Nature
dbSNP
Freq
EVS
phastCons
SIFT
Polyphen
HGMD
type
samples
1
20
25052099
C
T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
rs79919027
0.0367
-
-
-
-
-
het
1
2
20
25052119
C
-T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
3
20
25052119
C
+T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
347
4
20
25052119
C
+T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
hom
14
5
20
25052119
C
+TT
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
10
6
20
25052282
C
T
ENST00000409285
ENSG00000100987
25051521
25062996
ENSP00000386612
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
7
20
25052282
C
T
ENST00000409958
ENSG00000100987
25051521
25062996
ENSP00000387069
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
8
20
25052282
C
T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
9
20
25052282
C
T
ENST00000444511
ENSG00000100987
25051521
25062996
ENSP00000387720
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
10
20
25052306
T
A
ENST00000409285
ENSG00000100987
25051521
25062996
ENSP00000386612
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
11
20
25052306
T
A
ENST00000409958
ENSG00000100987
25051521
25062996
ENSP00000387069
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
12
20
25052306
T
A
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
13
20
25052306
T
A
ENST00000444511
ENSG00000100987
25051521
25062996
ENSP00000387720
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
14
20
25052308
G
C
ENST00000409285
ENSG00000100987
25051521
25062996
ENSP00000386612
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
rs6050296
0.1052
-
-
-
-
-
het
11
15
20
25052308
G
C
ENST00000409958
ENSG00000100987
25051521
25062996
ENSP00000387069
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
rs6050296
0.1052
-
-
-
-
-
het
11
16
20
25052308
G
C
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
rs6050296
0.1052
-
-
-
-
-
het
11
17
20
25052308
G
C
ENST00000444511
ENSG00000100987
25051521
25062996
ENSP00000387720
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
rs6050296
0.1052
-
-
-
-
-
het
11
18
20
25052412
C
T
ENST00000409285
ENSG00000100987
25051521
25062996
ENSP00000386612
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
19
20
25052412
C
T
ENST00000409958
ENSG00000100987
25051521
25062996
ENSP00000387069
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
20
20
25052412
C
T
ENST00000429762
ENSG00000100987
25051521
25062996
ENSP00000401690
VSX1
-1
VSX1_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
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