Links from Gene
Items: 1 to 20 of 1623
3.
rs1491288314 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 17:79708976
(GRCh38)
17:77682786
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79708976:C:CC
- Gene:
- MIR4739 (Varview), LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
C=0.00002/1
(GnomAD)
- HGVS:
4.
rs1490697142 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 17:79710201
(GRCh38)
17:-1
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79710200:C:A,NC_000017.11:79710200:C:G,NC_000017.11:79710200:C:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00703/127
(TOMMO)
G=0.01013/93
(GnomAD)
- HGVS:
5.
rs1489879549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:79709709
(GRCh38)
17:77683517
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79709708:C:A
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000009/1
(GnomAD)
- HGVS:
6.
rs1489538548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:79712079
(GRCh38)
17:77685843
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79712078:G:A
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489226183 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:79709327
(GRCh38)
17:77683135
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79709326:C:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
8.
rs1489127958 has merged into rs1283466944 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGCCCT>-,GAGCCCTGAGCCCT
[Show Flanks]
- Chromosome:
- 17:79705831
(GRCh38)
17:77679640
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79705813:CCTGAGCCCTGAGCCCTGAGCCCT:CCTGAGCCCTGAGCCCT,NC_000017.11:79705813:CCTGAGCCCTGAGCCCTGAGCCCT:CCTGAGCCCTGAGCCCTGAGCCCTGAGCCCT
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCTGAGCCCTGAGCCCTGAGCCCTGAGCCCT=0./0
(
ALFA)
CCTGAGC=0.00004/1
(TOMMO)
- HGVS:
9.
rs1489075241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 17:79706509
(GRCh38)
17:77680318
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79706508:C:A,NC_000017.11:79706508:C:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000212/4
(TOMMO)
T=0.000343/1
(KOREAN)
- HGVS:
11.
rs1488609675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:79705890
(GRCh38)
17:77679699
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79705889:G:A
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000108/2
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
12.
rs1488558202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:79706567
(GRCh38)
17:77680376
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79706566:C:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
13.
rs1488556131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:79712516
(GRCh38)
17:77686280
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79712515:G:A
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
14.
rs1488363801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:79711338
(GRCh38)
17:77685102
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79711337:A:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
15.
rs1488000241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:79710699
(GRCh38)
17:77684463
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79710698:A:G
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000023/6
(TOPMED)
- HGVS:
16.
rs1487900359 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:79711638
(GRCh38)
17:77685402
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79711637:C:T
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000035/1
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS:
17.
rs1487741391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 17:79707409
(GRCh38)
17:77681218
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79707408:G:C,NC_000017.11:79707408:G:T
- Gene:
- MIR4739 (Varview), LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1487698837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:79708264
(GRCh38)
17:77682073
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79708263:C:T
- Gene:
- MIR4739 (Varview), LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
19.
rs1487493678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:79710821
(GRCh38)
17:77684585
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79710820:T:C
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000042/11
(TOPMED)
C=0.000342/1
(KOREAN)
- HGVS:
20.
rs1487488406 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:79705359
(GRCh38)
17:77679168
(GRCh37)
- Canonical SPDI:
- NC_000017.11:79705358:G:A
- Gene:
- LINC02078 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: