Links from Gene
Items: 1 to 20 of 2478
1.
rs1490930291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46072730
(GRCh38)
22:46468610
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46072729:G:A
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
2.
rs1489739797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46064711
(GRCh38)
22:46460591
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46064710:C:T
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
4.
rs1489244366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46072122
(GRCh38)
22:46468002
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46072121:T:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000022/3
(GnomAD)
C=0.000026/7
(TOPMED)
C=0.000156/1
(1000Genomes)
C=0.00211/6
(KOREAN)
C=0.003788/63
(TOMMO)
- HGVS:
5.
rs1489233392 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46068115
(GRCh38)
22:46463995
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46068114:T:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
7.
rs1488619295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:46070086
(GRCh38)
22:46465966
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46070085:C:G
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1488453936 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCACCGTCGGCCCCGAGCGCTG>-
[Show Flanks]
- Chromosome:
- 22:46070805
(GRCh38)
22:46466685
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46070799:CGCTGCCACCGTCGGCCCCGAGCGCTG:CGCTG
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGCTG=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1488365160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:46070770
(GRCh38)
22:46466650
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46070769:C:A,NC_000022.11:46070769:C:T
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000029/4
(GnomAD)
- HGVS:
10.
rs1488256119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46067651
(GRCh38)
22:46463531
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46067650:T:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
11.
rs1487924545 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46068347
(GRCh38)
22:46464227
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46068346:G:A
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487392209 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 22:46073095
(GRCh38)
22:46468975
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46073094:T:
- Gene:
- LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487220425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:46064249
(GRCh38)
22:46460129
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46064248:C:T
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
- HGVS:
14.
rs1487207053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 22:46065369
(GRCh38)
22:46461249
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46065368:T:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1486731840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 22:46070963
(GRCh38)
22:46466843
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46070962:C:A
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486706500 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:46067191
(GRCh38)
22:46463071
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46067190:G:A
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
17.
rs1486660236 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:46070301
(GRCh38)
22:46466181
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46070300:G:A,NC_000022.11:46070300:G:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_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)
C=0.002477/70
(TOMMO)
- HGVS:
19.
rs1486136724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:46072217
(GRCh38)
22:46468097
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46072216:G:A,NC_000022.11:46072216:G:C
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
20.
rs1486110299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 22:46071368
(GRCh38)
22:46467248
(GRCh37)
- Canonical SPDI:
- NC_000022.11:46071367:C:A,NC_000022.11:46071367:C:T
- Gene:
- LINC02939 (Varview), LOC124905135 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00011/2
(
ALFA)
T=0.00045/2
(Estonian)
- HGVS: