Links from Gene
Items: 1 to 20 of 1429
1.
rs1490576740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:79009771
(GRCh38)
7:78639087
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79009770:A:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
2.
rs1490526455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 7:79007634
(GRCh38)
7:78636950
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79007633:T:A,NC_000007.14:79007633:T:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490522347 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 7:79012097
(GRCh38)
7:78641413
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79012096:AA:A
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490092237 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:79010704
(GRCh38)
7:78640020
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79010703:T:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
5.
rs1489943791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:79012575
(GRCh38)
7:78641891
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79012574:A:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489469646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:79007081
(GRCh38)
7:78636397
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79007080:T:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489110694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:79008557
(GRCh38)
7:78637874
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79008557:TTTTT:TTTTTT
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTT=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.00003/8
(TOPMED)
- HGVS:
8.
rs1488718275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:79008639
(GRCh38)
7:78637955
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79008638:A:T
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488645789 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:79007514
(GRCh38)
7:78636830
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79007513:T:A
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488593200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:79011513
(GRCh38)
7:78640829
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79011512:C:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1488127769 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 7:79008034
(GRCh38)
7:78637350
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79008033:G:
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
12.
rs1487977856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 7:79011600
(GRCh38)
7:78640916
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79011599:C:A
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487950779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:79010549
(GRCh38)
7:78639865
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79010548:T:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1487868222 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:79008695
(GRCh38)
7:78638011
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79008694:A:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486836917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:79009914
(GRCh38)
7:78639230
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79009913:T:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1486426594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:79011275
(GRCh38)
7:78640591
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79011274:A:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1486395633 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:79009028
(GRCh38)
7:78638345
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79009028:C:CC
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
18.
rs1485456788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:79008424
(GRCh38)
7:78637740
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79008423:C:T
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484546175 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:79009395
(GRCh38)
7:78638711
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79009394:T:C
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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.
rs1484288745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:79012285
(GRCh38)
7:78641601
(GRCh37)
- Canonical SPDI:
- NC_000007.14:79012284:C:G
- Gene:
- MAGI2 (Varview), MAGI2-AS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000072/19
(TOPMED)
- HGVS: