Links from Gene
Items: 1 to 20 of 1000
1.
rs1491346193 has merged into rs1409458574 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAAAGAGAGAGAGAGAAA>-,AGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA
[Show Flanks]
- Chromosome:
- 2:95046893
(GRCh38)
2:95712638
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95046877:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA:AGAGAGAGAGAGAAA,NC_000002.12:95046877:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA:AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA
- Gene:
- MAL (Varview), LOC124906047 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAAAGAAAGAGAGAGAGAGAAA=0.000061/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490941389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:95041837
(GRCh38)
2:95707582
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95041836:T:G
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
4.
rs1490806551 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:95039011
(GRCh38)
2:95704756
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95039010:G:A,NC_000002.12:95039010:G:T
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.01065/174
(
ALFA)
A=0.00014/14
(GnomAD)
A=0.00305/51
(TOMMO)
A=0.01198/35
(KOREAN)
- HGVS:
5.
rs1490795863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:95050035
(GRCh38)
2:95715780
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95050034:A:C
- Gene:
- MAL (Varview), LOC124906047 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490793514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95040414
(GRCh38)
2:95706159
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95040413:T:C
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1490604731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95024611
(GRCh38)
2:95690356
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95024610:C:T
- Gene:
- MAL (Varview), LOC124906046 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
8.
rs1490566146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:95049155
(GRCh38)
2:95714900
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95049154:G:A
- Gene:
- MAL (Varview), LOC124906047 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490533471 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGTGAGTGAGTGACTGAGTG>-,GGTGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG
[Show Flanks]
- Chromosome:
- 2:95037347
(GRCh38)
2:95703092
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95037328:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG:TGAGTGAGTGACTGAGTG,NC_000002.12:95037328:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG:TGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTGGGTGAGTGAGTGACTGAGTG
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGAGTGAGTGACTGAGTG=0./0
(
ALFA)
- HGVS:
10.
rs1490452158 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:95041293
(GRCh38)
2:95707038
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95041292:G:A,NC_000002.12:95041292:G:T
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490316559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95025070
(GRCh38)
2:95690815
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95025069:T:C
- Gene:
- MAL (Varview), LOC124906046 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00031/2
(1000Genomes)
- HGVS:
12.
rs1490290592 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:95024082
(GRCh38)
2:95689827
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95024081:A:G
- Gene:
- MAL (Varview), LOC124906046 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490264017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:95024846
(GRCh38)
2:95690591
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95024845:A:T
- Gene:
- MAL (Varview), LOC124906046 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490238375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:95049934
(GRCh38)
2:95715679
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95049933:G:A
- Gene:
- MAL (Varview), LOC124906047 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
16.
rs1489988467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:95038619
(GRCh38)
2:95704364
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95038618:A:G
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000283/8
(TOMMO)
- HGVS:
17.
rs1489977675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95050542
(GRCh38)
2:95716287
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95050541:T:C
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489777641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95030740
(GRCh38)
2:95696485
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95030739:T:C
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
19.
rs1489750239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95025947
(GRCh38)
2:95691692
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95025946:C:T
- Gene:
- MAL (Varview), LOC124906046 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
20.
rs1489570822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 2:95036971
(GRCh38)
2:95702716
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95036970:G:A,NC_000002.12:95036970:G:T
- Gene:
- MAL (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS: