Links from Gene
Items: 1 to 20 of 4234
1.
rs1491431673 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- X:39391377
(GRCh38)
X:39250631
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39391376:CA:
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00017/2
(
ALFA)
-=0.00007/4
(GnomAD)
- HGVS:
2.
rs1491251551 has merged into rs5902227 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- X:39382565
(GRCh38)
X:39241819
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTCTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:39382554:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01282 (Varview), LOC105373176 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
T=0.4307/1626
(1000Genomes)
- HGVS:
NC_000023.11:g.39382565_39382566del, NC_000023.11:g.39382566del, NC_000023.11:g.39382566dup, NC_000023.11:g.39382555_39382566T[13]CTTTTTTTTTTTT[2]T[11], NC_000023.11:g.39382565_39382566dup, NC_000023.11:g.39382563_39382566dup, NC_000023.11:g.39382561_39382566dup, NC_000023.11:g.39382566_39382567insTTTTTTTTTTTTTTTTTTT, NC_000023.11:g.39382566_39382567insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.39241819_39241820del, NC_000023.10:g.39241820del, NC_000023.10:g.39241820dup, NC_000023.10:g.39241809_39241820T[13]CTTTTTTTTTTTT[2]T[11], NC_000023.10:g.39241819_39241820dup, NC_000023.10:g.39241817_39241820dup, NC_000023.10:g.39241815_39241820dup, NC_000023.10:g.39241820_39241821insTTTTTTTTTTTTTTTTTTT, NC_000023.10:g.39241820_39241821insTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491166949 has merged into rs35085287 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA
[Show Flanks]
- Chromosome:
- X:39391386
(GRCh38)
X:39250640
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:39391377:AAAAAAAAAAA:AAAAAAAAAAAA
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
AA=0.2708/13
(Vietnamese)
-=0.425/17
(GENOME_DK)
-=0.4441/1283
(ALSPAC)
-=0.4606/1708
(TWINSUK)
- HGVS:
5.
rs1490486302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:39367414
(GRCh38)
X:39226668
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39367413:A:G
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
G=0.000495/6
(TOMMO)
- HGVS:
6.
rs1490398461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:39384511
(GRCh38)
X:39243765
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39384510:C:T
- Gene:
- LINC01282 (Varview), LOC105373176 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
- HGVS:
7.
rs1490356371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:39389878
(GRCh38)
X:39249132
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39389877:C:T
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490226180 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:39369534
(GRCh38)
X:39228788
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39369533:C:T
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490192383 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:39390604
(GRCh38)
X:39249858
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39390603:C:T
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489814997 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:39391975
(GRCh38)
X:39251229
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39391974:T:C
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
12.
rs1489792542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:39380299
(GRCh38)
X:39239553
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39380298:T:C
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00001/1
(GnomAD)
- HGVS:
14.
rs1489719586 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:39381750
(GRCh38)
X:39241004
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39381749:T:C
- Gene:
- LINC01282 (Varview), LOC105373176 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000142/2
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
15.
rs1489328578 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:39392157
(GRCh38)
X:39251411
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39392156:A:G
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489219548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:39368887
(GRCh38)
X:39228141
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39368886:A:C
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
- HGVS:
17.
rs1489174883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:39375887
(GRCh38)
X:39235141
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39375886:C:T
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
18.
rs1489024840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:39370336
(GRCh38)
X:39229590
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39370335:A:G
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488956863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:39391312
(GRCh38)
X:39250566
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39391311:G:A
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
20.
rs1488839562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- X:39390651
(GRCh38)
X:39249905
(GRCh37)
- Canonical SPDI:
- NC_000023.11:39390650:T:C,NC_000023.11:39390650:T:G
- Gene:
- LINC01282 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: