Links from Gene
Items: 1 to 20 of 14023
1.
rs1491548894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 14:97642948
(GRCh38)
14:98109286
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97642948:T:TAT
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
TA=0.000004/1
(TOPMED)
TA=0.000097/1
(GnomAD)
TA=0.000212/3
(TOMMO)
- HGVS:
2.
rs1491396059 has merged into rs34055914 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:97636368
(GRCh38)
14:98102705
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:97636356:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC02291 (Varview), LOC124903378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.97636368_97636380del, NC_000014.9:g.97636369_97636380del, NC_000014.9:g.97636370_97636380del, NC_000014.9:g.97636371_97636380del, NC_000014.9:g.97636372_97636380del, NC_000014.9:g.97636373_97636380del, NC_000014.9:g.97636374_97636380del, NC_000014.9:g.97636375_97636380del, NC_000014.9:g.97636376_97636380del, NC_000014.9:g.97636377_97636380del, NC_000014.9:g.97636378_97636380del, NC_000014.9:g.97636379_97636380del, NC_000014.9:g.97636380del, NC_000014.9:g.97636380dup, NC_000014.9:g.97636379_97636380dup, NC_000014.9:g.97636378_97636380dup, NC_000014.9:g.97636377_97636380dup, NC_000014.9:g.97636376_97636380dup, NC_000014.9:g.97636375_97636380dup, NC_000014.9:g.97636366_97636380dup, NC_000014.9:g.97636380_97636381insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.98102705_98102717del, NC_000014.8:g.98102706_98102717del, NC_000014.8:g.98102707_98102717del, NC_000014.8:g.98102708_98102717del, NC_000014.8:g.98102709_98102717del, NC_000014.8:g.98102710_98102717del, NC_000014.8:g.98102711_98102717del, NC_000014.8:g.98102712_98102717del, NC_000014.8:g.98102713_98102717del, NC_000014.8:g.98102714_98102717del, NC_000014.8:g.98102715_98102717del, NC_000014.8:g.98102716_98102717del, NC_000014.8:g.98102717del, NC_000014.8:g.98102717dup, NC_000014.8:g.98102716_98102717dup, NC_000014.8:g.98102715_98102717dup, NC_000014.8:g.98102714_98102717dup, NC_000014.8:g.98102713_98102717dup, NC_000014.8:g.98102712_98102717dup, NC_000014.8:g.98102703_98102717dup, NC_000014.8:g.98102717_98102718insAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491328349 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:97640581
(GRCh38)
14:98106918
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97640580:AT:
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000184/3
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000254/31
(GnomAD)
- HGVS:
4.
rs1491324159 has merged into rs10628952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC
[Show Flanks]
- Chromosome:
- 14:97663212
(GRCh38)
14:98129549
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97663198:CACACACACACACAC:CACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACACAC
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACAC=0./0
(
ALFA)
-=0.32/192
(NorthernSweden)
- HGVS:
NC_000014.9:g.97663200AC[6], NC_000014.9:g.97663200AC[8], NC_000014.9:g.97663200AC[9], NC_000014.9:g.97663200AC[10], NC_000014.9:g.97663200AC[11], NC_000014.8:g.98129537AC[6], NC_000014.8:g.98129537AC[8], NC_000014.8:g.98129537AC[9], NC_000014.8:g.98129537AC[10], NC_000014.8:g.98129537AC[11], XR_007064325.1:n.2698TG[6], XR_007064325.1:n.2698TG[8], XR_007064325.1:n.2698TG[9], XR_007064325.1:n.2698TG[10], XR_007064325.1:n.2698TG[11]
5.
rs1491247711 has merged into rs1369778969 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 14:97648015
(GRCh38)
14:98114352
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97648013:AGA:A
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00038/49
(GnomAD)
- HGVS:
7.
rs1491094676 has merged into rs10628952 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AC>-,ACAC,ACACAC,ACACACAC,ACACACACAC
[Show Flanks]
- Chromosome:
- 14:97663212
(GRCh38)
14:98129549
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97663198:CACACACACACACAC:CACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACAC,NC_000014.9:97663198:CACACACACACACAC:CACACACACACACACACACACAC
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACACAC=0./0
(
ALFA)
-=0.32/192
(NorthernSweden)
- HGVS:
NC_000014.9:g.97663200AC[6], NC_000014.9:g.97663200AC[8], NC_000014.9:g.97663200AC[9], NC_000014.9:g.97663200AC[10], NC_000014.9:g.97663200AC[11], NC_000014.8:g.98129537AC[6], NC_000014.8:g.98129537AC[8], NC_000014.8:g.98129537AC[9], NC_000014.8:g.98129537AC[10], NC_000014.8:g.98129537AC[11], XR_007064325.1:n.2698TG[6], XR_007064325.1:n.2698TG[8], XR_007064325.1:n.2698TG[9], XR_007064325.1:n.2698TG[10], XR_007064325.1:n.2698TG[11]
8.
rs1491093887 has merged into rs755655597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA
[Show Flanks]
- Chromosome:
- 14:97648017
(GRCh38)
14:98114354
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97648015:ACACACA:A,NC_000014.9:97648015:ACACACA:ACACA,NC_000014.9:97648015:ACACACA:ACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACACA,NC_000014.9:97648015:ACACACA:ACACACACACACACA
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000014.9:g.97648017_97648022del, NC_000014.9:g.97648017CA[2], NC_000014.9:g.97648017CA[4], NC_000014.9:g.97648017CA[5], NC_000014.9:g.97648017CA[6], NC_000014.9:g.97648017CA[7], NC_000014.8:g.98114354_98114359del, NC_000014.8:g.98114354CA[2], NC_000014.8:g.98114354CA[4], NC_000014.8:g.98114354CA[5], NC_000014.8:g.98114354CA[6], NC_000014.8:g.98114354CA[7]
9.
rs1491091351 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 14:97636357
(GRCh38)
14:98102695
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97636357::G
- Gene:
- LINC02291 (Varview), LOC124903378 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1491053736 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 14:97640651
(GRCh38)
14:98106988
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97640649:ACA:A
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490993015 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:97686477
(GRCh38)
14:98152814
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97686476:G:A,NC_000014.9:97686476:G:T
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1490968036 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:97687942
(GRCh38)
14:98154279
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97687941:C:T
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
14.
rs1490887481 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GCAC
[Show Flanks]
- Chromosome:
- 14:97663202
(GRCh38)
14:98129540
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97663202:CAC:CACGCAC
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview), LOC124903377 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CACGCAC=0.000084/1
(
ALFA)
CACG=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490842710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:97657893
(GRCh38)
14:98124230
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97657892:C:A
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490822322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:97643356
(GRCh38)
14:98109693
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97643355:C:A
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490799583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:97657256
(GRCh38)
14:98123593
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97657255:G:A
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- 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.
rs1490638728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 14:97655869
(GRCh38)
14:98122206
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97655868:A:G,NC_000014.9:97655868:A:T
- Gene:
- LINC02291 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490620967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:97671104
(GRCh38)
14:98137441
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97671103:C:T
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
20.
rs1490595286 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AAG
[Show Flanks]
- Chromosome:
- 14:97669475
(GRCh38)
14:98135813
(GRCh37)
- Canonical SPDI:
- NC_000014.9:97669475:AGAAG:AGAAGAAG
- Gene:
- LINC02291 (Varview), LOC105370650 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAAGAAG=0./0
(
ALFA)
AGA=0.000007/1
(GnomAD)
AGA=0.000008/2
(TOPMED)
- HGVS: