Links from Gene
Items: 1 to 20 of 583
2.
rs1489077049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATAA>-
[Show Flanks]
- Chromosome:
- 7:136903675
(GRCh38)
7:136588422
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903671:TAAATAA:TAA
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
3.
rs1488822420 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:136902742
(GRCh38)
7:136587489
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902741:C:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1487579059 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:136902929
(GRCh38)
7:136587676
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902928:TT:T
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
5.
rs1487105678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:136901495
(GRCh38)
7:136586242
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136901494:C:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1485573803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:136902825
(GRCh38)
7:136587572
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902824:A:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
7.
rs1484112576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:136902091
(GRCh38)
7:136586838
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902090:T:C
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1483183827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:136903568
(GRCh38)
7:136588315
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903567:A:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (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=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000212/4
(TOMMO)
- HGVS:
9.
rs1483132193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:136902445
(GRCh38)
7:136587192
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902444:T:A
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1482490518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:136901604
(GRCh38)
7:136586351
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136901603:T:C
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1481902968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 7:136903090
(GRCh38)
7:136587837
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903089:A:T
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000347/5
(
ALFA)
T=0.000072/19
(TOPMED)
T=0.000193/27
(GnomAD)
- HGVS:
12.
rs1478713232 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTT>-
[Show Flanks]
- Chromosome:
- 7:136903543
(GRCh38)
7:136588290
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903541:TATTT:T
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
14.
rs1476783997 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 7:136903721
(GRCh38)
7:136588468
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903720:TTT:TT
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
15.
rs1474730272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:136903446
(GRCh38)
7:136588193
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903445:A:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1473598277 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 7:136902193
(GRCh38)
7:136586940
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136902191:TAT:T
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1472663958 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:136903689
(GRCh38)
7:136588436
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136903688:G:A
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1472551161 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:136901255
(GRCh38)
7:136586002
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136901254:G:A
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_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:
19.
rs1471973594 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:136901665
(GRCh38)
7:136586412
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136901664:A:G
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1470810983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:136901599
(GRCh38)
7:136586346
(GRCh37)
- Canonical SPDI:
- NC_000007.14:136901598:T:C
- Gene:
- CHRM2 (Varview), LOC349160 (Varview), MIR490 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: