Links from Gene
Items: 1 to 20 of 3691
2.
rs1490910305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:109624047
(GRCh38)
1:110166669
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109624046:A:G
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490850013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:109626137
(GRCh38)
1:110168759
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109626136:C:G
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1490796544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:109626769
(GRCh38)
1:110169391
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109626768:G:A,NC_000001.11:109626768:G:T
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.109626769G>A, NC_000001.11:g.109626769G>T, NC_000001.10:g.110169391G>A, NC_000001.10:g.110169391G>T, NG_034075.1:g.11957G>A, NG_034075.1:g.11957G>T, NM_004037.9:c.575G>A, NM_004037.9:c.575G>T, NM_004037.8:c.575G>A, NM_004037.8:c.575G>T, NM_004037.7:c.737G>A, NM_004037.7:c.737G>T, NM_139156.4:c.494G>A, NM_139156.4:c.494G>T, NM_139156.3:c.494G>A, NM_139156.3:c.494G>T, NM_001368809.2:c.575G>A, NM_001368809.2:c.575G>T, NM_001368809.1:c.575G>A, NM_001368809.1:c.575G>T, NM_001257361.2:c.383G>A, NM_001257361.2:c.383G>T, NM_001257361.1:c.383G>A, NM_001257361.1:c.383G>T, NM_001257360.1:c.737G>A, NM_001257360.1:c.737G>T, NM_001308170.1:c.512G>A, NM_001308170.1:c.512G>T, NM_001257360.2:c.737G>A, NM_001257360.2:c.737G>T, NM_203404.1:c.380G>A, NM_203404.1:c.380G>T, NP_004028.4:p.Arg192Gln, NP_004028.4:p.Arg192Leu, NP_631895.1:p.Arg165Gln, NP_631895.1:p.Arg165Leu, NP_001355738.1:p.Arg192Gln, NP_001355738.1:p.Arg192Leu, NP_001244290.1:p.Arg128Gln, NP_001244290.1:p.Arg128Leu, NP_001295099.1:p.Arg171Gln, NP_001295099.1:p.Arg171Leu
5.
rs1490134772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:109631605
(GRCh38)
1:110174227
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109631604:A:C,NC_000001.11:109631604:A:G
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.109631605A>C, NC_000001.11:g.109631605A>G, NC_000001.10:g.110174227A>C, NC_000001.10:g.110174227A>G, NG_034075.1:g.16793A>C, NG_034075.1:g.16793A>G, NM_004037.9:c.*453A>C, NM_004037.9:c.*453A>G, NM_004037.8:c.*453A>C, NM_004037.8:c.*453A>G, NM_004037.7:c.*453A>C, NM_004037.7:c.*453A>G, NM_139156.4:c.*453A>C, NM_139156.4:c.*453A>G, NM_139156.3:c.*453A>C, NM_139156.3:c.*453A>G, NM_001368809.2:c.*453A>C, NM_001368809.2:c.*453A>G, NM_001368809.1:c.*453A>C, NM_001368809.1:c.*453A>G, NM_001257361.2:c.*453A>C, NM_001257361.2:c.*453A>G, NM_001257361.1:c.*453A>C, NM_001257361.1:c.*453A>G, NM_001257360.1:c.*453A>C, NM_001257360.1:c.*453A>G, NM_001308170.1:c.*453A>C, NM_001308170.1:c.*453A>G, NM_001257360.2:c.*453A>C, NM_001257360.2:c.*453A>G, NM_203404.1:c.*453A>C, NM_203404.1:c.*453A>G
6.
rs1489759863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:109625991
(GRCh38)
1:110168613
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109625990:G:A,NC_000001.11:109625990:G:C
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
7.
rs1489738013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:109623503
(GRCh38)
1:110166125
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109623502:A:T
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489421329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:109630810
(GRCh38)
1:110173432
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109630809:C:G,NC_000001.11:109630809:C:T
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489308905 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:109622808
(GRCh38)
1:110165430
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109622807:T:A
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1489190822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:109622762
(GRCh38)
1:110165384
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109622761:G:C
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
11.
rs1488974932 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:109619901
(GRCh38)
1:110162523
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109619900:C:T
- Gene:
- AMPD2 (Varview), GNAT2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
13.
rs1488831507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:109619494
(GRCh38)
1:110162116
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109619493:G:A,NC_000001.11:109619493:G:T
- Gene:
- AMPD2 (Varview), GNAT2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1488535901 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTTGAGG
[Show Flanks]
- Chromosome:
- 1:109630553
(GRCh38)
1:110173176
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109630553:GGAGTTGAGG:GGAGTTGAGGAGTTGAGG
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
GGAGTTGAGGAGTTGAGG=0./0
(
ALFA)
GGAGTTGA=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487929834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:109626510
(GRCh38)
1:110169132
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109626509:G:A
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS:
17.
rs1486795232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:109618009
(GRCh38)
1:110160631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109618008:C:T
- Gene:
- AMPD2 (Varview), GNAT2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
18.
rs1486732944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:109627459
(GRCh38)
1:110170081
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109627458:C:T
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.0005/1
(Korea1K)
- HGVS:
NC_000001.11:g.109627459C>T, NC_000001.10:g.110170081C>T, NG_034075.1:g.12647C>T, NM_004037.9:c.891C>T, NM_004037.8:c.891C>T, NM_004037.7:c.1053C>T, NM_139156.4:c.810C>T, NM_139156.3:c.810C>T, NM_001368809.2:c.891C>T, NM_001368809.1:c.891C>T, NM_001257361.2:c.699C>T, NM_001257361.1:c.699C>T, NM_001257360.1:c.1053C>T, NM_001308170.1:c.828C>T, NM_001257360.2:c.1053C>T, NM_203404.1:c.696C>T
19.
rs1486617050 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:109628738
(GRCh38)
1:110171360
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109628737:G:A
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.109628738G>A, NC_000001.10:g.110171360G>A, NG_034075.1:g.13926G>A, NM_004037.9:c.1503G>A, NM_004037.8:c.1503G>A, NM_004037.7:c.1665G>A, NM_139156.4:c.1422G>A, NM_139156.3:c.1422G>A, NM_001368809.2:c.1503G>A, NM_001368809.1:c.1503G>A, NM_001257361.2:c.1311G>A, NM_001257361.1:c.1311G>A, NM_001257360.1:c.1665G>A, NM_001308170.1:c.1440G>A, NG_082146.1:g.713G>A, NM_001257360.2:c.1665G>A, NM_203404.1:c.1308G>A
20.
rs1486295076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:109625942
(GRCh38)
1:110168564
(GRCh37)
- Canonical SPDI:
- NC_000001.11:109625941:T:C
- Gene:
- AMPD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
C=0.000035/1
(TOMMO)
- HGVS: