Links from Gene
Items: 1 to 20 of 836
1.
rs1491575018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:76784745
(GRCh38)
11:76495790
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784745:T:TT
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.00007/1
(
ALFA)
T=0.000018/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
2.
rs1491205170 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:76784747
(GRCh38)
11:76495792
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784747::T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
4.
rs1491041788 has merged into rs200701601 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT
[Show Flanks]
- Chromosome:
- 11:76782575
(GRCh38)
11:76493619
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:76782563:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.76782575_76782578del, NC_000011.10:g.76782576_76782578del, NC_000011.10:g.76782577_76782578del, NC_000011.10:g.76782578del, NC_000011.10:g.76782578dup, NC_000011.10:g.76782577_76782578dup, NC_000011.10:g.76782576_76782578dup, NC_000011.10:g.76782575_76782578dup, NC_000011.9:g.76493619_76493622del, NC_000011.9:g.76493620_76493622del, NC_000011.9:g.76493621_76493622del, NC_000011.9:g.76493622del, NC_000011.9:g.76493622dup, NC_000011.9:g.76493621_76493622dup, NC_000011.9:g.76493620_76493622dup, NC_000011.9:g.76493619_76493622dup
5.
rs1490835200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76782472
(GRCh38)
11:76493516
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76782471:C:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
6.
rs1490346085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76782832
(GRCh38)
11:76493876
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76782831:C:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1488967728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:76783456
(GRCh38)
11:76494500
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76783455:C:G
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1488318817 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:76784149
(GRCh38)
11:76495193
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784148:G:A
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487650274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:76784462
(GRCh38)
11:76495506
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784461:T:G
- Gene:
- TSKU (Varview), TSKU-AS1 (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=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487630108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:76783370
(GRCh38)
11:76494414
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76783369:G:C
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1484631093 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76784494
(GRCh38)
11:76495538
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784493:C:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1484599962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:76782813
(GRCh38)
11:76493857
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76782812:A:C
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1484459182 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:76782619
(GRCh38)
11:76493663
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76782618:G:C,NC_000011.10:76782618:G:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
C=0.000106/3
(TOMMO)
- HGVS:
15.
rs1483602567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:76784282
(GRCh38)
11:76495326
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784281:T:C
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1482660294 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:76784939
(GRCh38)
11:76495983
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784938:T:G
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1481541827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76784823
(GRCh38)
11:76495867
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784822:C:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1480496565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:76784700
(GRCh38)
11:76495744
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76784699:C:T
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1479383332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCGCGGCCGG>-
[Show Flanks]
- Chromosome:
- 11:76783348
(GRCh38)
11:76494392
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76783345:GGCCCGCGGCCGG:GG
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1478670085 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 11:76783054
(GRCh38)
11:76494098
(GRCh37)
- Canonical SPDI:
- NC_000011.10:76783053:GGGG:GGG
- Gene:
- TSKU (Varview), TSKU-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: