Links from Gene
Items: 1 to 20 of 989
2.
rs1490402355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:116954903
(GRCh38)
7:116594958
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116954903:TTT:TTTT
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490255593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:116955058
(GRCh38)
7:116595112
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116955057:C:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000111/1
(
ALFA)
G=0.000014/2
(GnomAD_exomes)
- HGVS:
4.
rs1488726279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116953764
(GRCh38)
7:116593818
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116953763:G:A
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
5.
rs1488631193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:116952789
(GRCh38)
7:116592843
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116952788:T:C,NC_000007.14:116952788:T:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
C=0.000071/1
(TOMMO)
- HGVS:
6.
rs1488068846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116954371
(GRCh38)
7:116594425
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116954370:G:A
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
7.
rs1487771386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116954350
(GRCh38)
7:116594404
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116954349:G:A
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1487556025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 7:116954276
(GRCh38)
7:116594330
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116954275:G:A,NC_000007.14:116954275:G:C
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
C=0.00003/8
(TOPMED)
- HGVS:
9.
rs1486732223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 7:116956165
(GRCh38)
7:116596219
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116956164:C:A,NC_000007.14:116956164:C:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1486715409 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:116952970
(GRCh38)
7:116593024
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116952969:C:T
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
11.
rs1486699806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:116955007
(GRCh38)
7:116595061
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116955006:A:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1486424916 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:116954118
(GRCh38)
7:116594172
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116954117:C:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
13.
rs1485007446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:116953700
(GRCh38)
7:116593754
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116953699:T:C
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.000025/5
(GnomAD_exomes)
- HGVS:
14.
rs1484761264 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:116955035
(GRCh38)
7:116595089
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116955034:C:G,NC_000007.14:116955034:C:T
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000071/1
(TOMMO)
- HGVS:
15.
rs1484476846 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:116953413
(GRCh38)
7:116593467
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116953412:C:T
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000067/9
(GnomAD)
T=0.000076/20
(TOPMED)
- HGVS:
16.
rs1484426981 has merged into rs1056592348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGGCG>-,GCG,GCGGCGGCG,GCGGCGGCGGCG
[Show Flanks]
- Chromosome:
- 7:116953460
(GRCh38)
7:116593514
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCG,NC_000007.14:116953447:GCGGCGGCGGCGGCGGCG:GCGGCGGCGGCGGCGGCGGCGGCG
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGGCGGCGGCGGCGGCGGCG=0./0
(
ALFA)
GCG=0.00025/4
(TOMMO)
- HGVS:
NC_000007.14:g.116953448GCG[4], NC_000007.14:g.116953448GCG[5], NC_000007.14:g.116953448GCG[7], NC_000007.14:g.116953448GCG[8], NC_000007.13:g.116593502GCG[4], NC_000007.13:g.116593502GCG[5], NC_000007.13:g.116593502GCG[7], NC_000007.13:g.116593502GCG[8], NG_047088.1:g.5122GCG[4], NG_047088.1:g.5122GCG[5], NG_047088.1:g.5122GCG[7], NG_047088.1:g.5122GCG[8], NM_018412.3:c.-93GCG[4], NM_018412.3:c.-93GCG[5], NM_018412.3:c.-93GCG[7], NM_018412.3:c.-93GCG[8], NM_021908.2:c.-93GCG[4], NM_021908.2:c.-93GCG[5], NM_021908.2:c.-93GCG[7], NM_021908.2:c.-93GCG[8], NR_002330.1:n.870CGC[4], NR_002330.1:n.870CGC[5], NR_002330.1:n.870CGC[7], NR_002330.1:n.870CGC[8]
17.
rs1483624043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:116956291
(GRCh38)
7:116596345
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116956290:A:G
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1482161032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116955126
(GRCh38)
7:116595180
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116955125:G:A
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1482141748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116953907
(GRCh38)
7:116593961
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116953906:G:A
- Gene:
- ST7 (Varview), ST7-AS1 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: