Links from Gene
Items: 1 to 20 of 6978
1.
rs1491557969 has merged into rs34300741 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTG>-,TG,TGTGTG,TGTGTGTG,TGTGTGTGTG
[Show Flanks]
- Chromosome:
- 13:113896177
(GRCh38)
13:114599150
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000013.11:113896162:TGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGTG=0./0
(
ALFA)
TGTGTG=0.000004/1
(TOPMED)
TG=0.225/9
(GENOME_DK)
TG=0.248333/149
(NorthernSweden)
- HGVS:
2.
rs1491301183 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 13:113920528
(GRCh38)
13:114623502
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113920528:T:TT
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
3.
rs1491283705 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 13:113919944
(GRCh38)
13:114622917
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113919943:CA:
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000015/2
(GnomAD)
- HGVS:
4.
rs1491142219 has merged into rs1352604078 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCACTGAGTGTGCCAG>-,GCACTGAGTGTGCCAGGCACTGAGTGTGCCAG
[Show Flanks]
- Chromosome:
- 13:113919955
(GRCh38)
13:114622928
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113919944:AGTGTGCCAGGCACTGAGTGTGCCAG:AGTGTGCCAG,NC_000013.11:113919944:AGTGTGCCAGGCACTGAGTGTGCCAG:AGTGTGCCAGGCACTGAGTGTGCCAGGCACTGAGTGTGCCAG
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGTGTGCCAGGCACTGAGTGTGCCAGGCACTGAGTGTGCCAG=0./0
(
ALFA)
- HGVS:
5.
rs1490842275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:113907367
(GRCh38)
13:114610340
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113907366:C:G
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490569970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:113898252
(GRCh38)
13:114601225
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113898251:C:G
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
8.
rs1490331122 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 13:113905211
(GRCh38)
13:114608184
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113905210:A:C
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490300074 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 13:113923121
(GRCh38)
13:114626094
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113923120:AA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490276649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 13:113909701
(GRCh38)
13:114612674
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113909700:A:G
- Gene:
- LINC00452 (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:
11.
rs1490205396 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 13:113907529
(GRCh38)
13:114610502
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113907528:G:A
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490148357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:113901743
(GRCh38)
13:114604716
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113901742:G:T
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
13.
rs1490022421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 13:113916293
(GRCh38)
13:114619266
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113916292:G:T
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- 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:
14.
rs1489985887 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 13:113924531
(GRCh38)
13:114627504
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113924527:TCTCT:TCT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0.000054/1
(
ALFA)
-=0.000034/9
(TOPMED)
-=0.00005/7
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
15.
rs1489767731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 13:113906279
(GRCh38)
13:114609252
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113906278:C:T
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
16.
rs1489679318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 13:113922193
(GRCh38)
13:114625166
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113922192:C:G,NC_000013.11:113922192:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
17.
rs1489600263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 13:113893301
(GRCh38)
13:114596274
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113893300:T:A
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489560735 has merged into rs34861359 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 13:113894599
(GRCh38)
13:114597572
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000013.11:113894589:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000013.11:g.113894599_113894613del, NC_000013.11:g.113894600_113894613del, NC_000013.11:g.113894602_113894613del, NC_000013.11:g.113894603_113894613del, NC_000013.11:g.113894605_113894613del, NC_000013.11:g.113894606_113894613del, NC_000013.11:g.113894607_113894613del, NC_000013.11:g.113894608_113894613del, NC_000013.11:g.113894609_113894613del, NC_000013.11:g.113894610_113894613del, NC_000013.11:g.113894611_113894613del, NC_000013.11:g.113894612_113894613del, NC_000013.11:g.113894613del, NC_000013.11:g.113894613dup, NC_000013.11:g.113894612_113894613dup, NC_000013.11:g.113894611_113894613dup, NC_000013.11:g.113894610_113894613dup, NC_000013.11:g.113894609_113894613dup, NC_000013.11:g.113894608_113894613dup, NC_000013.11:g.113894607_113894613dup, NC_000013.11:g.113894606_113894613dup, NC_000013.11:g.113894605_113894613dup, NC_000013.11:g.113894603_113894613dup, NC_000013.11:g.113894602_113894613dup, NC_000013.11:g.113894601_113894613dup, NC_000013.11:g.113894600_113894613dup, NC_000013.11:g.113894599_113894613dup, NC_000013.11:g.113894593_113894613dup, NC_000013.11:g.113894613_113894614insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000013.10:g.114597572_114597586del, NC_000013.10:g.114597573_114597586del, NC_000013.10:g.114597575_114597586del, NC_000013.10:g.114597576_114597586del, NC_000013.10:g.114597578_114597586del, NC_000013.10:g.114597579_114597586del, NC_000013.10:g.114597580_114597586del, NC_000013.10:g.114597581_114597586del, NC_000013.10:g.114597582_114597586del, NC_000013.10:g.114597583_114597586del, NC_000013.10:g.114597584_114597586del, NC_000013.10:g.114597585_114597586del, NC_000013.10:g.114597586del, NC_000013.10:g.114597586dup, NC_000013.10:g.114597585_114597586dup, NC_000013.10:g.114597584_114597586dup, NC_000013.10:g.114597583_114597586dup, NC_000013.10:g.114597582_114597586dup, NC_000013.10:g.114597581_114597586dup, NC_000013.10:g.114597580_114597586dup, NC_000013.10:g.114597579_114597586dup, NC_000013.10:g.114597578_114597586dup, NC_000013.10:g.114597576_114597586dup, NC_000013.10:g.114597575_114597586dup, NC_000013.10:g.114597574_114597586dup, NC_000013.10:g.114597573_114597586dup, NC_000013.10:g.114597572_114597586dup, NC_000013.10:g.114597566_114597586dup, NC_000013.10:g.114597586_114597587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1489553965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 13:113920808
(GRCh38)
13:114623781
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113920807:C:G
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD_exomes)
- HGVS:
20.
rs1489502766 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 13:113920041
(GRCh38)
13:114623014
(GRCh37)
- Canonical SPDI:
- NC_000013.11:113920040:A:T
- Gene:
- LINC00452 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00068/2
(KOREAN)
- HGVS: