Links from Gene
Items: 1 to 20 of 885
1.
rs1490824685 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:102142198
(GRCh38)
X:101397171
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142198:GGGG:GGGGG
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
2.
rs1490799410 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:102142123
(GRCh38)
X:101397095
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142122:G:
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00028/29
(GnomAD)
-=0.000416/110
(TOPMED)
-=0.000416/2
(1000Genomes)
- HGVS:
3.
rs1490281824 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:102143424
(GRCh38)
X:101398396
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102143423:T:C
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
4.
rs1489816535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- X:102142780
(GRCh38)
X:101397752
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142779:GGG:GG
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0.000084/1
(
ALFA)
-=0.000045/1
(TOMMO)
-=0.000048/5
(GnomAD)
-=0.000087/23
(TOPMED)
- HGVS:
5.
rs1489788567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:102144023
(GRCh38)
X:101398995
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102144022:T:G
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489539676 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:102139719
(GRCh38)
X:101394691
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102139718:C:G
- Gene:
- TCEAL6 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
7.
rs1487521029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:102142111
(GRCh38)
X:101397083
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142110:T:G
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
8.
rs1486433480 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:102143309
(GRCh38)
X:101398281
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102143308:A:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000315/4
(TOMMO)
T=0.001027/3
(KOREAN)
- HGVS:
10.
rs1485556191 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:102142776
(GRCh38)
X:101397748
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142775:G:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000039/4
(GnomAD)
T=0.000045/1
(TOMMO)
T=0.000208/1
(1000Genomes)
- HGVS:
13.
rs1483329384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- X:102141395
(GRCh38)
X:101396367
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102141394:G:C,NC_000023.11:102141394:G:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_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=0.00001/1
(GnomAD)
- HGVS:
14.
rs1482769343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:102141412
(GRCh38)
X:101396384
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102141411:G:C
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
15.
rs1482731097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- X:102142286
(GRCh38)
X:101397258
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142285:A:C,NC_000023.11:102142285:A:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.0003/9
(GnomAD)
C=0.01642/46
(KOREAN)
- HGVS:
16.
rs1482350001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:102141832
(GRCh38)
X:101396804
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102141831:G:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
17.
rs1482248546 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:102142521
(GRCh38)
X:101397493
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142520:C:G
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1481437412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:102142261
(GRCh38)
X:101397233
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142260:C:G
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00003/3
(GnomAD)
G=0.000057/15
(TOPMED)
- HGVS:
19.
rs1481334296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:102143049
(GRCh38)
X:101398021
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102143048:C:T
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
NC_000023.11:g.102143049C>T, NC_000023.10:g.101398021C>T, NW_025791816.1:g.38139C>T, NW_004070884.1:g.14907C>T, XR_938472.4:n.138C>T, XR_938472.3:n.138C>T, XR_938472.2:n.138C>T, XR_938472.1:n.138C>T, XR_938471.3:n.104C>T, XR_938471.2:n.104C>T, XR_938471.1:n.104C>T, XR_007068283.1:n.138C>T, XR_007068282.1:n.97C>T
20.
rs1480808516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- X:102142213
(GRCh38)
X:101397185
(GRCh37)
- Canonical SPDI:
- NC_000023.11:102142212:C:A
- Gene:
- TCEAL6 (Varview), LOC105373299 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00242/34
(
ALFA)
A=0.001873/9
(1000Genomes)
A=0.001901/194
(GnomAD)
A=0.002108/558
(TOPMED)
C=0.25/1
(SGDP_PRJ)
- HGVS: