Links from Gene
Items: 1 to 20 of 27482
1.
rs1491583623 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:142516558
(GRCh38)
8:143597919
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142516557:AT:
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00005/6
(GnomAD)
- HGVS:
2.
rs1491575589 has merged into rs1156247964 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 8:142449622
(GRCh38)
8:143530983
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000008.11:142449611:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.142449622_142449625del, NC_000008.11:g.142449623_142449625del, NC_000008.11:g.142449624_142449625del, NC_000008.11:g.142449625del, NC_000008.11:g.142449625dup, NC_000008.11:g.142449624_142449625dup, NC_000008.11:g.142449623_142449625dup, NC_000008.11:g.142449622_142449625dup, NC_000008.11:g.142449619_142449625dup, NC_000008.11:g.142449613_142449625dup, NC_000008.10:g.143530983_143530986del, NC_000008.10:g.143530984_143530986del, NC_000008.10:g.143530985_143530986del, NC_000008.10:g.143530986del, NC_000008.10:g.143530986dup, NC_000008.10:g.143530985_143530986dup, NC_000008.10:g.143530984_143530986dup, NC_000008.10:g.143530983_143530986dup, NC_000008.10:g.143530980_143530986dup, NC_000008.10:g.143530974_143530986dup
3.
rs1491542145 has merged into rs376323433 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGT>-,GT,GTGTGT
[Show Flanks]
- Chromosome:
- 8:142469459
(GRCh38)
8:143550820
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142469455:TGTGTGT:TGT,NC_000008.11:142469455:TGTGTGT:TGTGT,NC_000008.11:142469455:TGTGTGT:TGTGTGTGT
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.00078/4
(1000Genomes)
- HGVS:
5.
rs1491516869 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 8:142470541
(GRCh38)
8:143551902
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142470540:CT:
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1491497139 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GG>-
[Show Flanks]
- Chromosome:
- 8:142499600
(GRCh38)
8:143580961
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142499598:GGG:G
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000052/7
(GnomAD)
- HGVS:
8.
rs1491491626 has merged into rs763098191 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGT>-,GT,GTGT,GTGTGTGT
[Show Flanks]
- Chromosome:
- 8:142469611
(GRCh38)
8:143550972
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142469607:TGTGTGTGT:TGT,NC_000008.11:142469607:TGTGTGTGT:TGTGT,NC_000008.11:142469607:TGTGTGTGT:TGTGTGT,NC_000008.11:142469607:TGTGTGTGT:TGTGTGTGTGT
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGT=0./0
(
ALFA)
-=0.001092/2
(Korea1K)
-=0.003633/14
(ALSPAC)
-=0.004/67
(TOMMO)
-=0.004932/601
(GnomAD)
-=0.007551/28
(TWINSUK)
- HGVS:
NC_000008.11:g.142469609GT[1], NC_000008.11:g.142469609GT[2], NC_000008.11:g.142469609GT[3], NC_000008.11:g.142469609GT[5], NC_000008.10:g.143550970GT[1], NC_000008.10:g.143550970GT[2], NC_000008.10:g.143550970GT[3], NC_000008.10:g.143550970GT[5], XR_007061195.1:n.5811CA[1], XR_007061195.1:n.5811CA[2], XR_007061195.1:n.5811CA[3], XR_007061195.1:n.5811CA[5]
10.
rs1491445247 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 8:142469589
(GRCh38)
8:143550950
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142469588:AT:
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00003/3
(GnomAD)
- HGVS:
11.
rs1491440303 has merged into rs202096364 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG
[Show Flanks]
- Chromosome:
- 8:142469596
(GRCh38)
8:143550957
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142469589:TGTGTGTGTG:TGTGTG,NC_000008.11:142469589:TGTGTGTGTG:TGTGTGTG,NC_000008.11:142469589:TGTGTGTGTG:TGTGTGTGTGTG
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTG=0./0
(
ALFA)
-=0.00014/2
(TOMMO)
-=0.001/1
(GoNL)
-=0.01058/53
(1000Genomes)
- HGVS:
12.
rs1491347663 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 8:142478817
(GRCh38)
8:143560178
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142478816:GGG:GG
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1491321515 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 8:142527774
(GRCh38)
8:143609135
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142527773:AG:
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000043/6
(GnomAD)
-=0.000072/19
(TOPMED)
- HGVS:
17.
rs1491108974 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 8:142449612
(GRCh38)
8:143530974
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142449612::A,NC_000008.11:142449612::G
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
G=0.00025/3
(TOMMO)
- HGVS:
19.
rs1491083358 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 8:142502302
(GRCh38)
8:143583663
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142502301:AG:
- Gene:
- ADGRB1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000122/2
(
ALFA)
-=0.000278/35
(GnomAD)
-=0.005/3
(NorthernSweden)
- HGVS:
20.
rs1491065202 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AT,ATGT
[Show Flanks]
- Chromosome:
- 8:142469480
(GRCh38)
8:143550842
(GRCh37)
- Canonical SPDI:
- NC_000008.11:142469480::AT,NC_000008.11:142469480::ATGT
- Gene:
- ADGRB1 (Varview), LOC124902075 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGT=0./0
(
ALFA)
ATGT=0.00001/1
(GnomAD)
- HGVS: