Links from Gene
Items: 1 to 20 of 11607
1.
rs1491544809 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATT
[Show Flanks]
- Chromosome:
- 17:15959495
(GRCh38)
17:15862810
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15959495:TT:TTATT
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
TTA=0.0003/1
(GnomAD)
- HGVS:
2.
rs1491497079 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 17:15958018
(GRCh38)
17:15861332
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15958017:CT:
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000088/11
(GnomAD)
- HGVS:
3.
rs1491495335 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CC>-
[Show Flanks]
- Chromosome:
- 17:15958017
(GRCh38)
17:15861331
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15958016:CC:
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0024/9
(TWINSUK)
-=0.0054/21
(ALSPAC)
- HGVS:
4.
rs1491491047 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 17:15973994
(GRCh38)
17:15877309
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15973994:A:AA
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
5.
rs1491458687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAAA
[Show Flanks]
- Chromosome:
- 17:15976142
(GRCh38)
17:15879456
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15976140:AAA:A,NC_000017.11:15976140:AAA:AA,NC_000017.11:15976140:AAA:AAAAA
- Gene:
- ADORA2B (Varview), ZSWIM7 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
-=0.0044/71
(TOMMO)
-=0.01366/5
(NorthernSweden)
- HGVS:
6.
rs1491455949 has merged into rs537170795 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 17:15961292
(GRCh38)
17:15864606
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15961279:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000017.11:15961279:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:15961279:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.00167/1
(NorthernSweden)
-=0.125/5
(GENOME_DK)
-=0.16474/825
(1000Genomes)
- HGVS:
8.
rs1491423172 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:15967848
(GRCh38)
17:15871163
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15967848:T:TT
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000356/5
(
ALFA)
T=0.000186/26
(GnomAD)
T=0.000242/64
(TOPMED)
T=0.000468/3
(1000Genomes)
- HGVS:
9.
rs1491287666 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:15973994
(GRCh38)
17:15877308
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15973993:CA:
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491275622 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:15961164
(GRCh38)
17:15864478
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15961163:CA:
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0062/23
(TWINSUK)
-=0.0117/45
(ALSPAC)
- HGVS:
12.
rs1491128575 has merged into rs56097835 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:15959505
(GRCh38)
17:15862819
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:15959494:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
T=0.475/19
(GENOME_DK)
- HGVS:
NC_000017.11:g.15959505_15959518del, NC_000017.11:g.15959507_15959518del, NC_000017.11:g.15959509_15959518del, NC_000017.11:g.15959510_15959518del, NC_000017.11:g.15959511_15959518del, NC_000017.11:g.15959512_15959518del, NC_000017.11:g.15959513_15959518del, NC_000017.11:g.15959514_15959518del, NC_000017.11:g.15959515_15959518del, NC_000017.11:g.15959516_15959518del, NC_000017.11:g.15959517_15959518del, NC_000017.11:g.15959518del, NC_000017.11:g.15959518dup, NC_000017.11:g.15959517_15959518dup, NC_000017.11:g.15959516_15959518dup, NC_000017.11:g.15959515_15959518dup, NC_000017.11:g.15959514_15959518dup, NC_000017.11:g.15959512_15959518dup, NC_000017.11:g.15959511_15959518dup, NC_000017.11:g.15959496_15959518dup, NC_000017.11:g.15959518_15959519insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.15959518_15959519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.15959518_15959519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.15959518_15959519insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.15862819_15862832del, NC_000017.10:g.15862821_15862832del, NC_000017.10:g.15862823_15862832del, NC_000017.10:g.15862824_15862832del, NC_000017.10:g.15862825_15862832del, NC_000017.10:g.15862826_15862832del, NC_000017.10:g.15862827_15862832del, NC_000017.10:g.15862828_15862832del, NC_000017.10:g.15862829_15862832del, NC_000017.10:g.15862830_15862832del, NC_000017.10:g.15862831_15862832del, NC_000017.10:g.15862832del, NC_000017.10:g.15862832dup, NC_000017.10:g.15862831_15862832dup, NC_000017.10:g.15862830_15862832dup, NC_000017.10:g.15862829_15862832dup, NC_000017.10:g.15862828_15862832dup, NC_000017.10:g.15862826_15862832dup, NC_000017.10:g.15862825_15862832dup, NC_000017.10:g.15862810_15862832dup, NC_000017.10:g.15862832_15862833insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.15862832_15862833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.15862832_15862833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.15862832_15862833insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
13.
rs1491098938 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 17:15961280
(GRCh38)
17:15864595
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15961280::G
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000038/10
(TOPMED)
G=0.000073/8
(GnomAD)
- HGVS:
14.
rs1490831174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15960950
(GRCh38)
17:15864264
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15960949:G:A
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
15.
rs1490815673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:15930315
(GRCh38)
17:15833629
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15930314:G:T
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00043/7
(
ALFA)
T=0.00218/4
(Korea1K)
T=0.01506/44
(KOREAN)
T=0.02042/342
(TOMMO)
- HGVS:
16.
rs1490780689 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:15927820
(GRCh38)
17:15831134
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15927819:G:A
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490776869 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,G
[Show Flanks]
- Chromosome:
- 17:15932966
(GRCh38)
17:15836281
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15932966::C,NC_000017.11:15932966::G
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_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)
- HGVS:
18.
rs1490697188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 17:15948362
(GRCh38)
17:15851676
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15948361:T:A,NC_000017.11:15948361:T:C,NC_000017.11:15948361:T:G
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000057/15
(TOPMED)
C=0.000149/2
(GnomAD)
- HGVS:
19.
rs1490610354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:15945948
(GRCh38)
17:15849262
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15945947:A:T
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490559367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:15975325
(GRCh38)
17:15878639
(GRCh37)
- Canonical SPDI:
- NC_000017.11:15975324:C:G
- Gene:
- ADORA2B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000017.11:g.15975325C>G, NC_000017.10:g.15878639C>G, XM_011523659.4:c.673C>G, XM_011523659.3:c.673C>G, XM_011523659.2:c.673C>G, XM_011523659.1:c.673C>G, NM_000676.4:c.982C>G, NM_000676.3:c.982C>G, NM_000676.2:c.982C>G, XM_017024197.3:c.679C>G, XM_017024197.2:c.679C>G, XM_017024197.1:c.679C>G, XM_047435373.1:c.673C>G, XM_047435374.1:c.673C>G, XP_011521961.1:p.Leu225Val, NP_000667.1:p.Leu328Val, XP_016879686.1:p.Leu227Val, XP_047291329.1:p.Leu225Val, XP_047291330.1:p.Leu225Val