Links from Gene
Items: 1 to 20 of 3975
1.
rs1491587524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:78187338
(GRCh38)
17:76183420
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78187338:G:GG
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490759510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:78177341
(GRCh38)
17:76173422
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78177340:G:A
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490243676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:78188798
(GRCh38)
17:76184879
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78188797:T:C
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.001667/1
(NorthernSweden)
- HGVS:
7.
rs1489810764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:78188723
(GRCh38)
17:76184804
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78188722:A:G
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
8.
rs1489709444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:78187931
(GRCh38)
17:76184012
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78187930:A:T
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
9.
rs1489656602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:78174985
(GRCh38)
17:76171066
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78174984:G:A
- Gene:
- TK1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489651909 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:78182034
(GRCh38)
17:76178115
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78182033:G:A
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
11.
rs1489620496 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:78178295
(GRCh38)
17:76174376
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78178294:C:A
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
12.
rs1489568263 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 17:78179207
(GRCh38)
17:76175288
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78179206:AA:
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489441688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:78188665
(GRCh38)
17:76184746
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78188664:G:C
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
14.
rs1489283332 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:78187068
(GRCh38)
17:76183149
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78187067:G:A,NC_000017.11:78187067:G:T
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000017.11:g.78187068G>A, NC_000017.11:g.78187068G>T, NC_000017.10:g.76183149G>A, NC_000017.10:g.76183149G>T, NG_051962.1:g.5137C>T, NG_051962.1:g.5137C>A, NM_001363848.1:c.-74C>T, NM_001363848.1:c.-74C>A, NM_003258.4:c.-74C>T, NM_003258.4:c.-74C>A, NM_001346663.1:c.-74C>T, NM_001346663.1:c.-74C>A
15.
rs1489077580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:78183469
(GRCh38)
17:76179550
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78183468:G:A,NC_000017.11:78183468:G:C
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488982404 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:78186461
(GRCh38)
17:76182542
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78186460:C:G
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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:
17.
rs1488960981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:78185972
(GRCh38)
17:76182053
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78185971:A:C
- Gene:
- TK1 (Varview), AFMID (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
18.
rs1488928175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:78176472
(GRCh38)
17:76172554
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78176472:TT:TTT
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
19.
rs1488893512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:78182433
(GRCh38)
17:76178514
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78182432:T:C
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488746588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:78179079
(GRCh38)
17:76175160
(GRCh37)
- Canonical SPDI:
- NC_000017.11:78179078:G:C
- Gene:
- TK1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: