Links from Gene
Items: 1 to 20 of 1000
2.
rs1491377597 has merged into rs36088432 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 15:100624911
(GRCh38)
15:101165116
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100624903:AAAAAAAAA:AAAAAAA,NC_000015.10:100624903:AAAAAAAAA:AAAAAAAA,NC_000015.10:100624903:AAAAAAAAA:AAAAAAAAAA,NC_000015.10:100624903:AAAAAAAAA:AAAAAAAAAAA
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.3/12
(GENOME_DK)
-=0.31/186
(NorthernSweden)
-=0.37545/1447
(ALSPAC)
-=0.37976/379
(GoNL)
-=0.38511/1428
(TWINSUK)
-=0.39147/1753
(Estonian)
-=0.46471/2327
(1000Genomes)
- HGVS:
3.
rs1491285249 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:100624904
(GRCh38)
15:101165110
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100624904::T
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000047/2
(GnomAD)
- HGVS:
4.
rs1491279627 has merged into rs1172063471 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:100643489
(GRCh38)
15:101183694
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:100643477:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.100643489_100643503del, NC_000015.10:g.100643490_100643503del, NC_000015.10:g.100643491_100643503del, NC_000015.10:g.100643492_100643503del, NC_000015.10:g.100643493_100643503del, NC_000015.10:g.100643494_100643503del, NC_000015.10:g.100643495_100643503del, NC_000015.10:g.100643496_100643503del, NC_000015.10:g.100643497_100643503del, NC_000015.10:g.100643498_100643503del, NC_000015.10:g.100643499_100643503del, NC_000015.10:g.100643500_100643503del, NC_000015.10:g.100643501_100643503del, NC_000015.10:g.100643502_100643503del, NC_000015.10:g.100643503del, NC_000015.10:g.100643503dup, NC_000015.10:g.100643502_100643503dup, NC_000015.10:g.100643501_100643503dup, NC_000015.10:g.100643500_100643503dup, NC_000015.10:g.100643499_100643503dup, NC_000015.10:g.100643498_100643503dup, NC_000015.10:g.100643497_100643503dup, NC_000015.10:g.100643496_100643503dup, NC_000015.10:g.100643495_100643503dup, NC_000015.10:g.100643494_100643503dup, NC_000015.10:g.100643493_100643503dup, NC_000015.10:g.100643492_100643503dup, NC_000015.10:g.100643491_100643503dup, NC_000015.10:g.100643488_100643503dup, NC_000015.10:g.100643484_100643503dup, NC_000015.9:g.101183694_101183708del, NC_000015.9:g.101183695_101183708del, NC_000015.9:g.101183696_101183708del, NC_000015.9:g.101183697_101183708del, NC_000015.9:g.101183698_101183708del, NC_000015.9:g.101183699_101183708del, NC_000015.9:g.101183700_101183708del, NC_000015.9:g.101183701_101183708del, NC_000015.9:g.101183702_101183708del, NC_000015.9:g.101183703_101183708del, NC_000015.9:g.101183704_101183708del, NC_000015.9:g.101183705_101183708del, NC_000015.9:g.101183706_101183708del, NC_000015.9:g.101183707_101183708del, NC_000015.9:g.101183708del, NC_000015.9:g.101183708dup, NC_000015.9:g.101183707_101183708dup, NC_000015.9:g.101183706_101183708dup, NC_000015.9:g.101183705_101183708dup, NC_000015.9:g.101183704_101183708dup, NC_000015.9:g.101183703_101183708dup, NC_000015.9:g.101183702_101183708dup, NC_000015.9:g.101183701_101183708dup, NC_000015.9:g.101183700_101183708dup, NC_000015.9:g.101183699_101183708dup, NC_000015.9:g.101183698_101183708dup, NC_000015.9:g.101183697_101183708dup, NC_000015.9:g.101183696_101183708dup, NC_000015.9:g.101183693_101183708dup, NC_000015.9:g.101183689_101183708dup
5.
rs1491243622 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 15:100600550
(GRCh38)
15:101140755
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100600549:GC:
- Gene:
- LINS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00036/6
(TOMMO)
- HGVS:
6.
rs1491200378 has merged into rs36083050 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:100614284
(GRCh38)
15:101154489
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:100614272:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1907/98
(NorthernSweden)
- HGVS:
NC_000015.10:g.100614284_100614288del, NC_000015.10:g.100614285_100614288del, NC_000015.10:g.100614286_100614288del, NC_000015.10:g.100614287_100614288del, NC_000015.10:g.100614288del, NC_000015.10:g.100614288dup, NC_000015.10:g.100614287_100614288dup, NC_000015.10:g.100614286_100614288dup, NC_000015.10:g.100614285_100614288dup, NC_000015.10:g.100614282_100614288dup, NC_000015.9:g.101154489_101154493del, NC_000015.9:g.101154490_101154493del, NC_000015.9:g.101154491_101154493del, NC_000015.9:g.101154492_101154493del, NC_000015.9:g.101154493del, NC_000015.9:g.101154493dup, NC_000015.9:g.101154492_101154493dup, NC_000015.9:g.101154491_101154493dup, NC_000015.9:g.101154490_101154493dup, NC_000015.9:g.101154487_101154493dup
8.
rs1490976430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:100613280
(GRCh38)
15:101153485
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100613279:C:A
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490902166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:100650399
(GRCh38)
15:101190604
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100650398:G:C
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000214/3
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1490891944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:100644702
(GRCh38)
15:101184907
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100644701:G:T
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490845591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:100647870
(GRCh38)
15:101188075
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100647869:C:G
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490718717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 15:100631693
(GRCh38)
15:101171898
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100631692:G:A,NC_000015.10:100631692:G:C
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
13.
rs1490693410 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:100637641
(GRCh38)
15:101177846
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100637640:T:C
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,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:
14.
rs1490601659 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:100630839
(GRCh38)
15:101171044
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100630838:A:C,NC_000015.10:100630838:A:G
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490551960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:100601892
(GRCh38)
15:101142097
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100601891:C:T
- Gene:
- LINS1 (Varview), ASB7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490513996 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:100602560
(GRCh38)
15:101142765
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100602559:A:C
- Gene:
- LINS1 (Varview), ASB7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490464391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:100632617
(GRCh38)
15:101172822
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100632616:G:A
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490215510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:100601125
(GRCh38)
15:101141330
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100601124:T:A
- Gene:
- LINS1 (Varview), ASB7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490137617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:100603423
(GRCh38)
15:101143628
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100603422:C:A,NC_000015.10:100603422:C:T
- Gene:
- LINS1 (Varview), ASB7 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490135431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:100632197
(GRCh38)
15:101172402
(GRCh37)
- Canonical SPDI:
- NC_000015.10:100632196:A:G
- Gene:
- ASB7 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: