Links from Gene
Items: 1 to 20 of 10259
1.
rs1491493323 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 4:57439021
(GRCh38)
4:58305187
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57439020:TG:
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00017/2
(
ALFA)
-=0.00156/25
(TOMMO)
-=0.00219/14
(1000Genomes)
-=0.0046/247
(GnomAD)
TG=0.26336/1015
(ALSPAC)
TG=0.27724/1028
(TWINSUK)
- HGVS:
2.
rs1491427336 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 4:57429325
(GRCh38)
4:58295491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57429324:TT:
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.0008/27
(GnomAD)
- HGVS:
3.
rs1491421522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 4:57429160
(GRCh38)
4:58295326
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57429158:TCT:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00008/1
(
ALFA)
-=0.00002/1
(GnomAD)
- HGVS:
4.
rs1491368998 has merged into rs1553882265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTT
[Show Flanks]
- Chromosome:
- 4:57426897
(GRCh38)
4:58293063
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57426895:TTT:T,NC_000004.12:57426895:TTT:TTTT,NC_000004.12:57426895:TTT:TTTTT
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.0005/8
(TOMMO)
- HGVS:
6.
rs1491358042 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 4:57429327
(GRCh38)
4:58295493
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57429325:TAT:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.00031/10
(GnomAD)
- HGVS:
8.
rs1491217453 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,TC,TCTTTC,TCTTTCTTTC,TCTTTCTTTCTTTC,TCTTTCTTTCTTTCTTTC,TCTTTCTTTCTTTCTTTCTTTC
[Show Flanks]
- Chromosome:
- 4:57429326
(GRCh38)
4:58295493
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57429326::C,NC_000004.12:57429326::TC,NC_000004.12:57429326::TCTTTC,NC_000004.12:57429326::TCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTCTTTC,NC_000004.12:57429326::TCTTTCTTTCTTTCTTTCTTTC
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTTTC=0./0
(
ALFA)
TCTTTCTTTCTTTCTTTCTTTC=0.000004/1
(TOPMED)
TCTTTCTTTCTTTC=0.000041/1
(GnomAD)
- HGVS:
NC_000004.12:g.57429326_57429327insC, NC_000004.12:g.57429326_57429327insTC, NC_000004.12:g.57429326_57429327insTCTTTC, NC_000004.12:g.57429326_57429327insTCTTTCTTTC, NC_000004.12:g.57429326_57429327insTCTTTCTTTCTTTC, NC_000004.12:g.57429326_57429327insTCTTTCTTTCTTTCTTTC, NC_000004.12:g.57429326_57429327insTCTTTCTTTCTTTCTTTCTTTC, NC_000004.11:g.58295492_58295493insC, NC_000004.11:g.58295492_58295493insTC, NC_000004.11:g.58295492_58295493insTCTTTC, NC_000004.11:g.58295492_58295493insTCTTTCTTTC, NC_000004.11:g.58295492_58295493insTCTTTCTTTCTTTC, NC_000004.11:g.58295492_58295493insTCTTTCTTTCTTTCTTTC, NC_000004.11:g.58295492_58295493insTCTTTCTTTCTTTCTTTCTTTC
9.
rs1491209664 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT,TTT
[Show Flanks]
- Chromosome:
- 4:57429140
(GRCh38)
4:58295306
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57429139:TTTT:TTT,NC_000004.12:57429139:TTTT:TTTTT,NC_000004.12:57429139:TTTT:TTTTTT
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
TT=0.00018/3
(TOMMO)
- HGVS:
10.
rs1491019024 has merged into rs58312088 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:57439437
(GRCh38)
4:58305603
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:57439426:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.14333/86
(NorthernSweden)
T=0.225/9
(GENOME_DK)
- HGVS:
NC_000004.12:g.57439437_57439438del, NC_000004.12:g.57439438del, NC_000004.12:g.57439438dup, NC_000004.12:g.57439437_57439438dup, NC_000004.12:g.57439436_57439438dup, NC_000004.12:g.57439432_57439438dup, NC_000004.11:g.58305603_58305604del, NC_000004.11:g.58305604del, NC_000004.11:g.58305604dup, NC_000004.11:g.58305603_58305604dup, NC_000004.11:g.58305602_58305604dup, NC_000004.11:g.58305598_58305604dup
11.
rs1490995867 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:57438101
(GRCh38)
4:58304267
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57438100:T:G
- Gene:
- LINC02380 (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:
12.
rs1490978145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 4:57451896
(GRCh38)
4:58318062
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57451895:G:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1490949755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:57437214
(GRCh38)
4:58303380
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57437213:A:G
- Gene:
- LINC02380 (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:
14.
rs1490896701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:57424948
(GRCh38)
4:58291114
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57424947:A:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490823561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:57458604
(GRCh38)
4:58324770
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57458603:C:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000142/2
(TOMMO)
- HGVS:
16.
rs1490719654 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:57430644
(GRCh38)
4:58296810
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57430643:A:G
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490719323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:57457664
(GRCh38)
4:58323830
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57457663:A:G
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
18.
rs1490708185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:57443193
(GRCh38)
4:58309359
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57443192:G:A
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
19.
rs1490682190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:57444134
(GRCh38)
4:58310300
(GRCh37)
- Canonical SPDI:
- NC_000004.12:57444133:C:T
- Gene:
- LINC02380 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS: