Links from Gene
Items: 1 to 20 of 1700
1.
rs1491544182 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AC
[Show Flanks]
- Chromosome:
- 5:159939323
(GRCh38)
5:159366331
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939323:C:CAC
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CAC=0./0
(
ALFA)
CA=0.000071/1
(TOMMO)
CA=0.000075/8
(GnomAD)
- HGVS:
2.
rs1491345402 has merged into rs542707574 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC
[Show Flanks]
- Chromosome:
- 5:159939329
(GRCh38)
5:159366336
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC,NC_000005.10:159939322:GCGCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCGCGC=0./0
(
ALFA)
GCGCGCGCGC=0.00351/2
(NorthernSweden)
- HGVS:
NC_000005.10:g.159939323GC[3], NC_000005.10:g.159939323GC[4], NC_000005.10:g.159939323GC[5], NC_000005.10:g.159939323GC[6], NC_000005.10:g.159939323GC[8], NC_000005.10:g.159939323GC[9], NC_000005.10:g.159939323GC[10], NC_000005.10:g.159939323GC[11], NC_000005.10:g.159939323GC[12], NC_000005.10:g.159939323GC[13], NC_000005.9:g.159366330GC[3], NC_000005.9:g.159366330GC[4], NC_000005.9:g.159366330GC[5], NC_000005.9:g.159366330GC[6], NC_000005.9:g.159366330GC[8], NC_000005.9:g.159366330GC[9], NC_000005.9:g.159366330GC[10], NC_000005.9:g.159366330GC[11], NC_000005.9:g.159366330GC[12], NC_000005.9:g.159366330GC[13]
3.
rs1491031018 has merged into rs70987981 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
[Show Flanks]
- Chromosome:
- 5:159939298
(GRCh38)
5:159366305
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:159939278:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
- HGVS:
NC_000005.10:g.159939280TG[9], NC_000005.10:g.159939280TG[10], NC_000005.10:g.159939280TG[11], NC_000005.10:g.159939280TG[12], NC_000005.10:g.159939280TG[13], NC_000005.10:g.159939280TG[14], NC_000005.10:g.159939280TG[15], NC_000005.10:g.159939280TG[16], NC_000005.10:g.159939280TG[17], NC_000005.10:g.159939280TG[18], NC_000005.10:g.159939280TG[19], NC_000005.10:g.159939280TG[20], NC_000005.10:g.159939280TG[21], NC_000005.10:g.159939280TG[23], NC_000005.10:g.159939280TG[24], NC_000005.10:g.159939280TG[25], NC_000005.10:g.159939280TG[26], NC_000005.9:g.159366287TG[9], NC_000005.9:g.159366287TG[10], NC_000005.9:g.159366287TG[11], NC_000005.9:g.159366287TG[12], NC_000005.9:g.159366287TG[13], NC_000005.9:g.159366287TG[14], NC_000005.9:g.159366287TG[15], NC_000005.9:g.159366287TG[16], NC_000005.9:g.159366287TG[17], NC_000005.9:g.159366287TG[18], NC_000005.9:g.159366287TG[19], NC_000005.9:g.159366287TG[20], NC_000005.9:g.159366287TG[21], NC_000005.9:g.159366287TG[23], NC_000005.9:g.159366287TG[24], NC_000005.9:g.159366287TG[25], NC_000005.9:g.159366287TG[26]
4.
rs1490953667 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 5:159938353
(GRCh38)
5:159365360
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159938352:A:
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490002259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:159939292
(GRCh38)
5:159366299
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939291:T:A
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.016131/263
(
ALFA)
A=0.00319/53
(TOMMO)
A=0.005459/10
(Korea1K)
A=0.005818/17
(KOREAN)
A=0.033422/4175
(GnomAD)
T=0.5/6
(SGDP_PRJ)
- HGVS:
8.
rs1489305993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:159943187
(GRCh38)
5:159370194
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159943186:G:C
- Gene:
- ADRA1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1488876887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:159936732
(GRCh38)
5:159363739
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159936731:T:G
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
10.
rs1488417983 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:159936290
(GRCh38)
5:159363297
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159936289:T:C
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488103547 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGTGTGTGCG>-
[Show Flanks]
- Chromosome:
- 5:159939312
(GRCh38)
5:159366319
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939310:GTGTGTGTGTGTGCG:G
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
-=0.000088/11
(GnomAD)
- HGVS:
12.
rs1487062717 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:159941515
(GRCh38)
5:159368522
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159941514:CC:C
- Gene:
- ADRA1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
13.
rs1486803349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:159937892
(GRCh38)
5:159364899
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159937891:T:C
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1486541497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:159939767
(GRCh38)
5:159366774
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939766:G:A
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_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:
15.
rs1486369655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:159937454
(GRCh38)
5:159364461
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159937453:T:C
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1485158060 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:159943175
(GRCh38)
5:159370182
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159943174:G:A
- Gene:
- ADRA1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
17.
rs1485106507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:159942166
(GRCh38)
5:159369173
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159942165:C:A
- Gene:
- ADRA1B (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1484567086 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTGCG>-
[Show Flanks]
- Chromosome:
- 5:159939318
(GRCh38)
5:159366325
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159939316:GTGTGTGCG:G
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000054/6
(GnomAD)
- HGVS:
19.
rs1484305827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 5:159937425
(GRCh38)
5:159364432
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159937424:C:G,NC_000005.10:159937424:C:T
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483757938 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:159937586
(GRCh38)
5:159364593
(GRCh37)
- Canonical SPDI:
- NC_000005.10:159937585:G:C
- Gene:
- ADRA1B (Varview), LOC101927790 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: