Links from Gene
Items: 1 to 20 of 1110
1.
rs1490489519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:105420661
(GRCh38)
14:105886998
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105420660:C:G,NC_000014.9:105420660:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
2.
rs1490418203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105420102
(GRCh38)
14:105886439
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105420101:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490324942 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:105421087
(GRCh38)
14:105887424
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105421086:C:G,NC_000014.9:105421086:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
T=0.000312/2
(1000Genomes)
- HGVS:
4.
rs1490253171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:105420358
(GRCh38)
14:105886695
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105420357:A:C
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1489385335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:105418079
(GRCh38)
14:105884416
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105418078:C:G,NC_000014.9:105418078:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000014.9:g.105418079C>G, NC_000014.9:g.105418079C>T, NC_000014.8:g.105884416C>G, NC_000014.8:g.105884416C>T, NG_029515.1:g.3231C>G, NG_029515.1:g.3231C>T, NW_004166863.1:g.81246C>G, NW_004166863.1:g.81246C>T, NR_125384.1:n.1084G>C, NR_125384.1:n.1084G>A, NR_125385.1:n.949G>C, NR_125385.1:n.949G>A
6.
rs1487774422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:105419677
(GRCh38)
14:105886014
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105419676:C:A,NC_000014.9:105419676:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
NC_000014.9:g.105419677C>A, NC_000014.9:g.105419677C>T, NC_000014.8:g.105886014C>A, NC_000014.8:g.105886014C>T, NG_029515.1:g.4829C>A, NG_029515.1:g.4829C>T, NW_004166863.1:g.82844C>A, NW_004166863.1:g.82844C>T, NR_125384.1:n.63G>T, NR_125384.1:n.63G>A, NR_125385.1:n.63G>T, NR_125385.1:n.63G>A
7.
rs1487724327 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCGCCCTGCA
[Show Flanks]
- Chromosome:
- 14:105418531
(GRCh38)
14:105884869
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105418531:GCACCGCCCTGCA:GCACCGCCCTGCACCGCCCTGCA
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GCACCGCCCTGCACCGCCCTGCA=0./0
(
ALFA)
GCACCGCCCT=0.000004/1
(TOPMED)
- HGVS:
8.
rs1487447534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGGCGG
[Show Flanks]
- Chromosome:
- 14:105419884
(GRCh38)
14:105886222
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105419884:GGCGG:GGCGGGGGCGG
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGCGGGGGCGG=0./0
(
ALFA)
GGCGGG=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.105419889_105419890insGGGCGG, NC_000014.8:g.105886226_105886227insGGGCGG, NG_029515.1:g.5041_5042insGGGCGG, NM_004689.4:c.-147_-146insGGGCGG, NM_004689.3:c.-147_-146insGGGCGG, NM_001203258.2:c.-147_-146insGGGCGG, NM_001203258.1:c.-147_-146insGGGCGG, NW_004166863.1:g.83056_83057insGGGCGG, XM_047431904.1:c.-147_-146insGGGCGG, XM_047431905.1:c.-147_-146insGGGCGG, NM_001411061.1:c.-147_-146insGGGCGG, XM_047431906.1:c.-147_-146insGGGCGG, XM_047431907.1:c.-147_-146insGGGCGG, NM_001411062.1:c.-147_-146insGGGCGG, XM_047431908.1:c.-147_-146insGGGCGG
9.
rs1487396011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:105419025
(GRCh38)
14:105885362
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105419024:A:G
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487084982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:105419920
(GRCh38)
14:105886257
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105419919:G:A
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.105419920G>A, NC_000014.8:g.105886257G>A, NG_029515.1:g.5072G>A, NM_004689.4:c.-116G>A, NM_004689.3:c.-116G>A, NM_001203258.2:c.-116G>A, NM_001203258.1:c.-116G>A, NW_004166863.1:g.83087G>A, XM_047431904.1:c.-116G>A, XM_047431905.1:c.-116G>A, NM_001411061.1:c.-116G>A, XM_047431906.1:c.-116G>A, XM_047431907.1:c.-116G>A, NM_001411062.1:c.-116G>A, XM_047431908.1:c.-116G>A
11.
rs1486861242 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGGATGGA>-,GTGGATGGAGTGGATGGA
[Show Flanks]
- Chromosome:
- 14:105417386
(GRCh38)
14:105883723
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105417375:AGTGGATGGAGTGGATGGA:AGTGGATGGA,NC_000014.9:105417375:AGTGGATGGAGTGGATGGA:AGTGGATGGAGTGGATGGAGTGGATGGA
- Gene:
- MTA1-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTGGATGGAGTGGATGGAGTGGATGGA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1485512686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:105420789
(GRCh38)
14:105887126
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105420788:G:A,NC_000014.9:105420788:G:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000035/1
(TOMMO)
A=0.000546/1
(Korea1K)
A=0.002391/7
(KOREAN)
- HGVS:
14.
rs1484838930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:105417304
(GRCh38)
14:105883641
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105417303:G:C
- Gene:
- MTA1-DT (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
15.
rs1483986825 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105421501
(GRCh38)
14:105887838
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105421500:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1483844318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:105420651
(GRCh38)
14:105886988
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105420650:T:C
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
17.
rs1483816095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105419270
(GRCh38)
14:105885607
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105419269:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000128/34
(TOPMED)
T=0.000135/19
(GnomAD)
- HGVS:
18.
rs1483760438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:105418180
(GRCh38)
14:105884517
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105418179:A:G
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
19.
rs1483513985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:105421075
(GRCh38)
14:105887412
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105421074:C:T
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1482718681 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:105421375
(GRCh38)
14:105887712
(GRCh37)
- Canonical SPDI:
- NC_000014.9:105421374:C:G
- Gene:
- MTA1 (Varview), MTA1-DT (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS: