Links from Gene
Items: 1 to 20 of 1000
1.
rs1490707778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:67286682
(GRCh38)
11:67054153
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67286681:G:T
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490551717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 11:67286419
(GRCh38)
11:67053890
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67286418:T:A,NC_000011.10:67286418:T:G
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.67286419T>A, NC_000011.10:g.67286419T>G, NC_000011.9:g.67053890T>A, NC_000011.9:g.67053890T>G, NG_052619.1:g.2129T>A, NG_052619.1:g.2129T>G, NM_001619.5:c.*969T>A, NM_001619.5:c.*969T>G, NM_001619.4:c.*969T>A, NM_001619.4:c.*969T>G, NM_001619.3:c.*969T>A, NM_001619.3:c.*969T>G, XM_011544773.2:c.*969T>A, XM_011544773.2:c.*969T>G, XM_011544773.1:c.*969T>A, XM_011544773.1:c.*969T>G
3.
rs1490551602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 11:67274565
(GRCh38)
11:67042036
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67274564:A:C,NC_000011.10:67274564:A:T
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.04873/142
(KOREAN)
- HGVS:
4.
rs1489964228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:67272891
(GRCh38)
11:67040362
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67272890:G:C
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489869090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCCGGG
[Show Flanks]
- Chromosome:
- 11:67266496
(GRCh38)
11:67033968
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67266496:GCCGGGGCCGGG:GCCGGGGCCGGGGCCGGG
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCGGGGCCGGGGCCGGG=0./0
(
ALFA)
GCCGGG=0.000039/5
(GnomAD)
GCCGGG=0.000071/1
(TOMMO)
- HGVS:
6.
rs1489838311 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:67266396
(GRCh38)
11:67033867
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67266395:C:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489810662 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AGCTCCAG>-
[Show Flanks]
- Chromosome:
- 11:67280134
(GRCh38)
11:67047605
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67280133:AGCTCCAG:
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489294892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:67266717
(GRCh38)
11:67034188
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67266716:G:C
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- coding_sequence_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1489053764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:67275352
(GRCh38)
11:67042823
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67275351:A:G
- Gene:
- GRK2 (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:
10.
rs1488751122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:67273202
(GRCh38)
11:67040673
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67273201:G:T
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
11.
rs1488593037 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:67268479
(GRCh38)
11:67035950
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67268478:C:T
- Gene:
- GRK2 (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:
12.
rs1488567444 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:67267860
(GRCh38)
11:67035331
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67267859:G:C
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1488457172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67286476
(GRCh38)
11:67053947
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67286475:G:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000037/5
(GnomAD_exomes)
- HGVS:
14.
rs1488407286 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:67285029
(GRCh38)
11:67052500
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67285028:T:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
A=0.000012/3
(GnomAD_exomes)
- HGVS:
15.
rs1488308608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:67267453
(GRCh38)
11:67034924
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67267452:G:C
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488275713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67266467
(GRCh38)
11:67033938
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67266466:G:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000008/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
17.
rs1488246192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:67285595
(GRCh38)
11:67053066
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67285594:C:G,NC_000011.10:67285594:C:T
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
- HGVS:
NC_000011.10:g.67285595C>G, NC_000011.10:g.67285595C>T, NC_000011.9:g.67053066C>G, NC_000011.9:g.67053066C>T, NG_052619.1:g.1305C>G, NG_052619.1:g.1305C>T, NM_001619.5:c.*145C>G, NM_001619.5:c.*145C>T, NM_001619.4:c.*145C>G, NM_001619.4:c.*145C>T, NM_001619.3:c.*145C>G, NM_001619.3:c.*145C>T, XM_011544773.2:c.*145C>G, XM_011544773.2:c.*145C>T, XM_011544773.1:c.*145C>G, XM_011544773.1:c.*145C>T
18.
rs1488204257 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67274107
(GRCh38)
11:67041578
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67274106:G:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488055459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:67284643
(GRCh38)
11:67052114
(GRCh37)
- Canonical SPDI:
- NC_000011.10:67284642:G:A
- Gene:
- GRK2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS: