Links from Gene
Items: 1 to 20 of 4470
2.
rs1491233767 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:103261681
(GRCh38)
5:102597383
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103261681:C:CC
- Gene:
- MACIR (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000025/3
(GnomAD)
C=0.001957/33
(TOMMO)
- HGVS:
3.
rs1491166029 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 5:103261701
(GRCh38)
5:102597403
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103261701:C:CC
- Gene:
- MACIR (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.000066/7
(GnomAD)
- HGVS:
5.
rs1490961235 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:103265497
(GRCh38)
5:102601198
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103265496:CC:C
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490686889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:103264333
(GRCh38)
5:102600034
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103264332:A:G
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490646991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTTA>-
[Show Flanks]
- Chromosome:
- 5:103274412
(GRCh38)
5:102610113
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103274408:TTACTTTA:TTA
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTA=0./0
(
ALFA)
-=0.000045/12
(TOPMED)
-=0.00005/7
(GnomAD)
- HGVS:
8.
rs1490621581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:103273349
(GRCh38)
5:102609050
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103273348:T:A,NC_000005.10:103273348:T:C
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
C=0.00004/0
(TOMMO)
- HGVS:
9.
rs1490522897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:103264915
(GRCh38)
5:102600616
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103264914:C:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
11.
rs1490245702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:103271213
(GRCh38)
5:102606914
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103271212:A:G
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
12.
rs1490009593 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:103256724
(GRCh38)
5:102592425
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103256723:G:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
13.
rs1489984433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:103257943
(GRCh38)
5:102593644
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103257942:G:A
- Gene:
- MACIR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489807966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:103272811
(GRCh38)
5:102608512
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103272810:G:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
15.
rs1489760626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:103265574
(GRCh38)
5:102601275
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103265573:G:C
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
16.
rs1489717597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:103271785
(GRCh38)
5:102607486
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103271784:A:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
17.
rs1489518000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:103256868
(GRCh38)
5:102592569
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103256867:C:G
- Gene:
- MACIR (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489304181 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:103262489
(GRCh38)
5:102598190
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103262488:A:G
- Gene:
- MACIR (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489166361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:103271807
(GRCh38)
5:102607508
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103271806:C:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489064924 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:103270705
(GRCh38)
5:102606406
(GRCh37)
- Canonical SPDI:
- NC_000005.10:103270704:A:T
- Gene:
- MACIR (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: