Links from Gene
Items: 1 to 20 of 910
1.
rs1491106496 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:34690424
(GRCh38)
9:34690421
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690423:CT:
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
-=0.00007/1
(TOMMO)
-=0.00219/4
(Korea1K)
- HGVS:
2.
rs1490876691 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CTGT>-
[Show Flanks]
- Chromosome:
- 9:34690424
(GRCh38)
9:34690421
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690423:CTGT:
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
-=0.00004/1
(TOMMO)
- HGVS:
3.
rs1489713027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:34692594
(GRCh38)
9:34692591
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34692593:A:T
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1487562837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 9:34689263
(GRCh38)
9:34689260
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34689262:A:C,NC_000009.12:34689262:A:G
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
5.
rs1485407242 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:34692479
(GRCh38)
9:34692476
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34692478:G:A,NC_000009.12:34692478:G:C
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1484979764 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:34689823
(GRCh38)
9:34689820
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34689822:C:T
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1484698124 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:34690958
(GRCh38)
9:34690955
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690957:G:A
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
8.
rs1484655351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:34692794
(GRCh38)
9:34692791
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34692793:T:C
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
9.
rs1484334453 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:34691098
(GRCh38)
9:34691095
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34691097:A:G
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1481811275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:34691852
(GRCh38)
9:34691849
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34691851:G:A
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
12.
rs1481724686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:34689806
(GRCh38)
9:34689803
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34689805:G:C
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
13.
rs1481682624 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:34689238
(GRCh38)
9:34689235
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34689237:C:T
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
14.
rs1481441425 has merged into rs74180568 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 9:34690440
(GRCh38)
9:34690437
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:34690424:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TG=0.2963/1484
(1000Genomes)
- HGVS:
NC_000009.12:g.34690426GT[7], NC_000009.12:g.34690426GT[10], NC_000009.12:g.34690426GT[12], NC_000009.12:g.34690426GT[13], NC_000009.12:g.34690426GT[14], NC_000009.12:g.34690426GT[15], NC_000009.12:g.34690426GT[16], NC_000009.12:g.34690426GT[17], NC_000009.12:g.34690426GT[18], NC_000009.12:g.34690426GT[19], NC_000009.12:g.34690426GT[20], NC_000009.12:g.34690426GT[21], NC_000009.12:g.34690426GT[23], NC_000009.12:g.34690426GT[24], NC_000009.12:g.34690426GT[25], NC_000009.12:g.34690426GT[26], NC_000009.12:g.34690426GT[27], NC_000009.12:g.34690426GT[28], NC_000009.12:g.34690426GT[29], NC_000009.12:g.34690426GT[30], NC_000009.12:g.34690426GT[31], NC_000009.12:g.34690426GT[32], NC_000009.12:g.34690426GT[33], NC_000009.11:g.34690423GT[7], NC_000009.11:g.34690423GT[10], NC_000009.11:g.34690423GT[12], NC_000009.11:g.34690423GT[13], NC_000009.11:g.34690423GT[14], NC_000009.11:g.34690423GT[15], NC_000009.11:g.34690423GT[16], NC_000009.11:g.34690423GT[17], NC_000009.11:g.34690423GT[18], NC_000009.11:g.34690423GT[19], NC_000009.11:g.34690423GT[20], NC_000009.11:g.34690423GT[21], NC_000009.11:g.34690423GT[23], NC_000009.11:g.34690423GT[24], NC_000009.11:g.34690423GT[25], NC_000009.11:g.34690423GT[26], NC_000009.11:g.34690423GT[27], NC_000009.11:g.34690423GT[28], NC_000009.11:g.34690423GT[29], NC_000009.11:g.34690423GT[30], NC_000009.11:g.34690423GT[31], NC_000009.11:g.34690423GT[32], NC_000009.11:g.34690423GT[33]
15.
rs1480984174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:34690251
(GRCh38)
9:34690248
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690250:G:A,NC_000009.12:34690250:G:C
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000119/2
(TOMMO)
- HGVS:
17.
rs1479739608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:34691611
(GRCh38)
9:34691608
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34691610:G:T
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
18.
rs1478438139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:34690795
(GRCh38)
9:34690792
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34690794:T:C
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1478224201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:34692149
(GRCh38)
9:34692146
(GRCh37)
- Canonical SPDI:
- NC_000009.12:34692148:C:T
- Gene:
- CCL19 (Varview), PHF24 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: