Links from Gene
Items: 1 to 20 of 1000
1.
rs1491509385 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:213010571
(GRCh38)
1:213183913
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213010570:CA:
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000084/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491484457 has merged into rs202124670 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:213007111
(GRCh38)
1:213180453
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213007099:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00017/2
(
ALFA)
-=0.43686/1671
(1000Genomes)
- HGVS:
NC_000001.11:g.213007111_213007116del, NC_000001.11:g.213007114_213007116del, NC_000001.11:g.213007115_213007116del, NC_000001.11:g.213007116del, NC_000001.11:g.213007116dup, NC_000001.11:g.213007115_213007116dup, NC_000001.11:g.213007114_213007116dup, NC_000001.11:g.213007113_213007116dup, NC_000001.11:g.213007110_213007116dup, NC_000001.11:g.213007109_213007116dup, NC_000001.11:g.213007105_213007116dup, NC_000001.11:g.213007116_213007117insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.213180453_213180458del, NC_000001.10:g.213180456_213180458del, NC_000001.10:g.213180457_213180458del, NC_000001.10:g.213180458del, NC_000001.10:g.213180458dup, NC_000001.10:g.213180457_213180458dup, NC_000001.10:g.213180456_213180458dup, NC_000001.10:g.213180455_213180458dup, NC_000001.10:g.213180452_213180458dup, NC_000001.10:g.213180451_213180458dup, NC_000001.10:g.213180447_213180458dup, NC_000001.10:g.213180458_213180459insAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491455531 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:212996623
(GRCh38)
1:213169965
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212996622:CA:
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.01425/169
(
ALFA)
-=0.45562/6878
(TOMMO)
- HGVS:
5.
rs1491291204 has merged into rs11339532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:213010584
(GRCh38)
1:213183926
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.4/16
(GENOME_DK)
- HGVS:
NC_000001.11:g.213010584_213010588del, NC_000001.11:g.213010585_213010588del, NC_000001.11:g.213010586_213010588del, NC_000001.11:g.213010587_213010588del, NC_000001.11:g.213010588del, NC_000001.11:g.213010588dup, NC_000001.11:g.213010587_213010588dup, NC_000001.11:g.213010586_213010588dup, NC_000001.11:g.213010585_213010588dup, NC_000001.11:g.213010581_213010588dup, NC_000001.11:g.213010579_213010588dup, NC_000001.10:g.213183926_213183930del, NC_000001.10:g.213183927_213183930del, NC_000001.10:g.213183928_213183930del, NC_000001.10:g.213183929_213183930del, NC_000001.10:g.213183930del, NC_000001.10:g.213183930dup, NC_000001.10:g.213183929_213183930dup, NC_000001.10:g.213183928_213183930dup, NC_000001.10:g.213183927_213183930dup, NC_000001.10:g.213183923_213183930dup, NC_000001.10:g.213183921_213183930dup
6.
rs1491153437 has merged into rs71585821 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAA,AAAAAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 1:212996624
(GRCh38)
1:213169966
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:212996623:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.212996641del, NC_000001.11:g.212996641dup, NC_000001.11:g.212996640_212996641dup, NC_000001.11:g.212996639_212996641dup, NC_000001.11:g.212996637_212996641dup, NC_000001.11:g.212996636_212996641dup, NC_000001.10:g.213169983del, NC_000001.10:g.213169983dup, NC_000001.10:g.213169982_213169983dup, NC_000001.10:g.213169981_213169983dup, NC_000001.10:g.213169979_213169983dup, NC_000001.10:g.213169978_213169983dup
7.
rs1491115751 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:213016754
(GRCh38)
1:213190096
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213016753:CA:
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00093/11
(
ALFA)
-=0.0004/11
(TOMMO)
- HGVS:
8.
rs1491104721 has merged into rs762298608 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:213016764
(GRCh38)
1:213190106
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:213016754:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.275/11
(GENOME_DK)
- HGVS:
NC_000001.11:g.213016764_213016779del, NC_000001.11:g.213016766_213016779del, NC_000001.11:g.213016767_213016779del, NC_000001.11:g.213016768_213016779del, NC_000001.11:g.213016769_213016779del, NC_000001.11:g.213016770_213016779del, NC_000001.11:g.213016771_213016779del, NC_000001.11:g.213016772_213016779del, NC_000001.11:g.213016773_213016779del, NC_000001.11:g.213016774_213016779del, NC_000001.11:g.213016775_213016779del, NC_000001.11:g.213016776_213016779del, NC_000001.11:g.213016777_213016779del, NC_000001.11:g.213016778_213016779del, NC_000001.11:g.213016779del, NC_000001.11:g.213016779dup, NC_000001.11:g.213016778_213016779dup, NC_000001.11:g.213016777_213016779dup, NC_000001.11:g.213016776_213016779dup, NC_000001.11:g.213016775_213016779dup, NC_000001.11:g.213016774_213016779dup, NC_000001.11:g.213016773_213016779dup, NC_000001.11:g.213016769_213016779dup, NC_000001.11:g.213016768_213016779dup, NC_000001.11:g.213016760_213016779dup, NC_000001.10:g.213190106_213190121del, NC_000001.10:g.213190108_213190121del, NC_000001.10:g.213190109_213190121del, NC_000001.10:g.213190110_213190121del, NC_000001.10:g.213190111_213190121del, NC_000001.10:g.213190112_213190121del, NC_000001.10:g.213190113_213190121del, NC_000001.10:g.213190114_213190121del, NC_000001.10:g.213190115_213190121del, NC_000001.10:g.213190116_213190121del, NC_000001.10:g.213190117_213190121del, NC_000001.10:g.213190118_213190121del, NC_000001.10:g.213190119_213190121del, NC_000001.10:g.213190120_213190121del, NC_000001.10:g.213190121del, NC_000001.10:g.213190121dup, NC_000001.10:g.213190120_213190121dup, NC_000001.10:g.213190119_213190121dup, NC_000001.10:g.213190118_213190121dup, NC_000001.10:g.213190117_213190121dup, NC_000001.10:g.213190116_213190121dup, NC_000001.10:g.213190115_213190121dup, NC_000001.10:g.213190111_213190121dup, NC_000001.10:g.213190110_213190121dup, NC_000001.10:g.213190102_213190121dup
10.
rs1490959549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:213007688
(GRCh38)
1:213181030
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213007687:A:C,NC_000001.11:213007687:A:G
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490888609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:213006622
(GRCh38)
1:213179964
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213006621:T:C
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490820679 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:213000004
(GRCh38)
1:213173346
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213000003:T:C
- Gene:
- ANGEL2 (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)
- HGVS:
13.
rs1490474388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:213017554
(GRCh38)
1:213190896
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213017553:C:G
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490052470 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:213016618
(GRCh38)
1:213189960
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213016617:G:A
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
15.
rs1489990121 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:213016522
(GRCh38)
1:213189864
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213016521:A:G
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000071/2
(TOMMO)
G=0.000684/2
(KOREAN)
- HGVS:
16.
rs1489974464 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:213008655
(GRCh38)
1:213181997
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213008651:ACACA:ACA
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489903524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:213007665
(GRCh38)
1:213181007
(GRCh37)
- Canonical SPDI:
- NC_000001.11:213007664:T:C
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000035/1
(TOMMO)
C=0.000546/1
(Korea1K)
- HGVS:
18.
rs1489826283 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:212999863
(GRCh38)
1:213173205
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212999862:T:G
- Gene:
- ANGEL2 (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:
19.
rs1489749407 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAAT>-
[Show Flanks]
- Chromosome:
- 1:212999443
(GRCh38)
1:213172785
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212999440:ATGAAT:AT
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
20.
rs1489498164 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:212996939
(GRCh38)
1:213170281
(GRCh37)
- Canonical SPDI:
- NC_000001.11:212996938:GGG:GG
- Gene:
- ANGEL2 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000053/14
(TOPMED)
-=0.000093/13
(GnomAD)
- HGVS: