ADAM metallopeptidase with thrombospondin type 1 motif, 17 [Source:HGNC Symbol;Acc:17109]
15
100511794
100882210
-1
q26.3
100511794
100882210
ADAMTS17
ADAMTS17-001
HGNC Symbol
HGNC transcript name
9
46.62
protein_coding
protein_coding
ensembl_hava
ensembl_hava
KNOWN
KNOWN
170691
17109
ADAMTS17
NM_139057
27521
MSeqDR Master Exome Data Set M1: 411 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
15
100511817
G
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
NA
-
-
lod=221:546
-
-
-
het
1
2
15
100511860
A
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs183457005
0.0027
-
-
-
-
-
het
2
3
15
100511885
C
T
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs116467016
0.0341
-
lod=31:336
-
-
-
het
1
4
15
100511906
C
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs13329612
0.1997
-
-
-
-
-
hom
2
5
15
100511906
C
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs13329612
0.1997
-
-
-
-
-
het
10
6
15
100511962
G
T
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs114391483
-
-
lod=63:412
-
-
-
het
2
7
15
100511978
C
-TGG
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
2
8
15
100511983
A
-ACACGTGCGTTAGTG
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
9
15
100511988
G
A
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs151153777
0.0085
-
-
-
-
-
het
1
10
15
100511991
C
-GTTAGTGACACGTGT
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
1
11
15
100512029
C
T
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs183671964
0.03
-
lod=115:476
-
-
-
het
2
12
15
100512047
A
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs10468183
0.42545
-
-
-
-
-
hom
141
13
15
100512047
A
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs10468183
0.42545
-
-
-
-
-
het
285
14
15
100512066
T
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs8041971
0.1525
-
-
-
-
-
het
10
15
15
100512079
A
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs8037666
0.42532
-
-
-
-
-
het
288
16
15
100512079
A
G
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs8037666
0.42532
-
-
-
-
-
hom
144
17
15
100512096
T
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs145561763
0.00272
-
-
-
-
-
het
2
18
15
100512128
G
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
NA
-
-
-
-
-
-
het
3
19
15
100512253
G
A
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs8036076
0.025
-
-
-
-
-
het
5
20
15
100512255
G
C
ENST00000268070
ENSG00000140470
100511794
100882210
ENSP00000268070
ADAMTS17
-1
ATS17_HUMAN
-
-
3'_UTR
rs138578029
0.0229
-
-
-
-
-
het
2
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