Links from Gene
Items: 1 to 20 of 4293
1.
rs1491091908 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 12:24567968
(GRCh38)
12:24720902
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24567966:ACA:A
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.00004/1
(TOMMO)
-=0.00006/6
(GnomAD)
- HGVS:
3.
rs1490291141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:24583405
(GRCh38)
12:24736339
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24583404:G:A
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00005/7
(GnomAD)
A=0.000068/18
(TOPMED)
A=0.000389/7
(TOMMO)
A=0.000546/1
(Korea1K)
A=0.001369/4
(KOREAN)
- HGVS:
4.
rs1490239135 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTCA>-
[Show Flanks]
- Chromosome:
- 12:24583899
(GRCh38)
12:24736833
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24583896:CAGTCA:CA
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000035/1
(TOMMO)
- HGVS:
5.
rs1490185732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:24566731
(GRCh38)
12:24719665
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24566730:T:C
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1489995708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:24584152
(GRCh38)
12:24737086
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24584151:C:T
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489891517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:24574970
(GRCh38)
12:24727904
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24574969:C:A
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1489812039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 12:24567402
(GRCh38)
12:24720336
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24567401:T:A,NC_000012.12:24567401:T:C,NC_000012.12:24567401:T:G
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00043/7
(
ALFA)
A=0.00157/7
(Estonian)
A=0.00404/114
(TOMMO)
A=0.00766/14
(Korea1K)
A=0.01097/32
(KOREAN)
- HGVS:
9.
rs1489798765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:24584358
(GRCh38)
12:24737292
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24584357:A:C
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00169/28
(TOMMO)
- HGVS:
11.
rs1489690881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:24568208
(GRCh38)
12:24721142
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24568207:A:G
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- 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:
12.
rs1489282329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:24568349
(GRCh38)
12:24721283
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24568348:C:G
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
13.
rs1489154710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:24581490
(GRCh38)
12:24734424
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24581489:G:A
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1489017948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:24572236
(GRCh38)
12:24725170
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24572235:A:G,NC_000012.12:24572235:A:T
- Gene:
- LINC00477 (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:
15.
rs1488988198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:24573508
(GRCh38)
12:24726442
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24573507:C:T
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1488924692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:24568828
(GRCh38)
12:24721762
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24568827:T:G
- Gene:
- LINC00477 (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:
17.
rs1488860696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:24583975
(GRCh38)
12:24736909
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24583974:A:G
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488808416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:24584817
(GRCh38)
12:24737751
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24584816:C:G,NC_000012.12:24584816:C:T
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488721151 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 12:24573148
(GRCh38)
12:24726082
(GRCh37)
- Canonical SPDI:
- NC_000012.12:24573144:TCTCT:TCT
- Gene:
- LINC00477 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.001638/3
(Korea1K)
- HGVS: