Links from Gene
Items: 1 to 20 of 1000
1.
rs1491017607 has merged into rs34132237 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:116958175
(GRCh38)
7:116598229
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:116958162:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.0059/22
(TWINSUK)
-=0.0067/26
(ALSPAC)
-=0.3/12
(GENOME_DK)
- HGVS:
NC_000007.14:g.116958175_116958186del, NC_000007.14:g.116958176_116958186del, NC_000007.14:g.116958177_116958186del, NC_000007.14:g.116958178_116958186del, NC_000007.14:g.116958179_116958186del, NC_000007.14:g.116958180_116958186del, NC_000007.14:g.116958181_116958186del, NC_000007.14:g.116958182_116958186del, NC_000007.14:g.116958183_116958186del, NC_000007.14:g.116958184_116958186del, NC_000007.14:g.116958185_116958186del, NC_000007.14:g.116958186del, NC_000007.14:g.116958186dup, NC_000007.14:g.116958185_116958186dup, NC_000007.14:g.116958184_116958186dup, NC_000007.14:g.116958183_116958186dup, NC_000007.14:g.116958182_116958186dup, NC_000007.14:g.116958181_116958186dup, NC_000007.14:g.116958180_116958186dup, NC_000007.14:g.116958179_116958186dup, NC_000007.14:g.116958178_116958186dup, NC_000007.14:g.116958177_116958186dup, NC_000007.14:g.116958176_116958186dup, NC_000007.14:g.116958175_116958186dup, NC_000007.14:g.116958174_116958186dup, NC_000007.14:g.116958166_116958186dup, NC_000007.14:g.116958186_116958187insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.116958186_116958187insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.116598229_116598240del, NC_000007.13:g.116598230_116598240del, NC_000007.13:g.116598231_116598240del, NC_000007.13:g.116598232_116598240del, NC_000007.13:g.116598233_116598240del, NC_000007.13:g.116598234_116598240del, NC_000007.13:g.116598235_116598240del, NC_000007.13:g.116598236_116598240del, NC_000007.13:g.116598237_116598240del, NC_000007.13:g.116598238_116598240del, NC_000007.13:g.116598239_116598240del, NC_000007.13:g.116598240del, NC_000007.13:g.116598240dup, NC_000007.13:g.116598239_116598240dup, NC_000007.13:g.116598238_116598240dup, NC_000007.13:g.116598237_116598240dup, NC_000007.13:g.116598236_116598240dup, NC_000007.13:g.116598235_116598240dup, NC_000007.13:g.116598234_116598240dup, NC_000007.13:g.116598233_116598240dup, NC_000007.13:g.116598232_116598240dup, NC_000007.13:g.116598231_116598240dup, NC_000007.13:g.116598230_116598240dup, NC_000007.13:g.116598229_116598240dup, NC_000007.13:g.116598228_116598240dup, NC_000007.13:g.116598220_116598240dup, NC_000007.13:g.116598240_116598241insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.116598240_116598241insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047088.1:g.9849_9860del, NG_047088.1:g.9850_9860del, NG_047088.1:g.9851_9860del, NG_047088.1:g.9852_9860del, NG_047088.1:g.9853_9860del, NG_047088.1:g.9854_9860del, NG_047088.1:g.9855_9860del, NG_047088.1:g.9856_9860del, NG_047088.1:g.9857_9860del, NG_047088.1:g.9858_9860del, NG_047088.1:g.9859_9860del, NG_047088.1:g.9860del, NG_047088.1:g.9860dup, NG_047088.1:g.9859_9860dup, NG_047088.1:g.9858_9860dup, NG_047088.1:g.9857_9860dup, NG_047088.1:g.9856_9860dup, NG_047088.1:g.9855_9860dup, NG_047088.1:g.9854_9860dup, NG_047088.1:g.9853_9860dup, NG_047088.1:g.9852_9860dup, NG_047088.1:g.9851_9860dup, NG_047088.1:g.9850_9860dup, NG_047088.1:g.9849_9860dup, NG_047088.1:g.9848_9860dup, NG_047088.1:g.9840_9860dup, NG_047088.1:g.9860_9861insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047088.1:g.9860_9861insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
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:
4.
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:
5.
rs1490148609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:116958158
(GRCh38)
7:116598212
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116958157:G:C
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000009/1
(GnomAD)
- HGVS:
6.
rs1490099291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 7:116957084
(GRCh38)
7:116597138
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116957083:C:A,NC_000007.14:116957083:C:T
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
7.
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:
8.
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:
9.
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:
10.
rs1487784583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116957655
(GRCh38)
7:116597709
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116957654:G:A
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
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:
12.
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:
13.
rs1486970324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116958715
(GRCh38)
7:116598769
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116958714:G:A
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
14.
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:
15.
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:
16.
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:
17.
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:
18.
rs1486244526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:116959609
(GRCh38)
7:116599663
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116959608:G:T
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1486142184 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:116958505
(GRCh38)
7:116598559
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116958504:G:A
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485849028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:116957797
(GRCh38)
7:116597851
(GRCh37)
- Canonical SPDI:
- NC_000007.14:116957796:A:G
- Gene:
- ST7 (Varview), ST7-OT4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: