Links from Gene
Items: 1 to 20 of 1000
2.
rs1490393733 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 2:241678968
(GRCh38)
2:242618383
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241678966:TAT:T
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000029/4
(GnomAD)
- HGVS:
3.
rs1490380748 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:241678063
(GRCh38)
2:242617478
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241678062:G:A
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490101730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:241678195
(GRCh38)
2:242617610
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241678194:A:G
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1489607165 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:241685230
(GRCh38)
2:242624645
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241685229:T:C
- Gene:
- DTYMK (Varview), ING5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1489336802 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:241679526
(GRCh38)
2:242618941
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241679525:T:C
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489263643 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:241686753
(GRCh38)
2:242626168
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241686752:G:A
- Gene:
- DTYMK (Varview), ING5 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000008/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.241686753G>A, NC_000002.11:g.242626168G>A, NM_012145.4:c.31C>T, NM_012145.3:c.31C>T, NM_001320905.2:c.31C>T, NM_001320905.1:c.31C>T, NR_135492.2:n.63C>T, NR_135492.1:n.216C>T, NM_001320904.2:c.31C>T, NM_001320904.1:c.31C>T, NM_001165031.2:c.31C>T, NM_001165031.1:c.31C>T, NR_033255.2:n.63C>T, NR_033255.1:n.216C>T, NM_001320902.2:c.31C>T, NM_001320902.1:c.31C>T, NM_001320903.2:c.31C>T, NM_001320903.1:c.31C>T
9.
rs1489130266 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:241682277
(GRCh38)
2:242621692
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241682276:G:C
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000008/1
(GnomAD_exomes)
- HGVS:
10.
rs1489070025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:241680668
(GRCh38)
2:242620083
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241680667:A:G
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488336507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:241687539
(GRCh38)
2:242626954
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241687538:T:G
- Gene:
- DTYMK (Varview), ING5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
14.
rs1488286951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:241682728
(GRCh38)
2:242622143
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241682727:C:T
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488258625 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAG>-
[Show Flanks]
- Chromosome:
- 2:241684155
(GRCh38)
2:242623570
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241684152:AGGAG:AG
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
16.
rs1488053488 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 2:241679429
(GRCh38)
2:242618844
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241679428:G:T
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487990465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:241682072
(GRCh38)
2:242621487
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241682071:C:T
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1487915108 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 2:241685225
(GRCh38)
2:242624641
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241685225:A:AA
- Gene:
- DTYMK (Varview), ING5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487830560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:241677057
(GRCh38)
2:242616472
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241677056:C:A
- Gene:
- DTYMK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487351304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:241687163
(GRCh38)
2:242626578
(GRCh37)
- Canonical SPDI:
- NC_000002.12:241687162:T:C
- Gene:
- DTYMK (Varview), ING5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: