Links from Gene
Items: 1 to 20 of 4036
1.
rs1491554636 has merged into rs372812565 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 12:10029253
(GRCh38)
12:10181852
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:10029238:GTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGTGTGT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.10029239GT[7], NC_000012.12:g.10029239GT[8], NC_000012.12:g.10029239GT[9], NC_000012.12:g.10029239GT[10], NC_000012.12:g.10029239GT[12], NC_000012.12:g.10029239GT[13], NC_000012.12:g.10029239GT[14], NC_000012.12:g.10029239GT[15], NC_000012.12:g.10029239GT[16], NC_000012.12:g.10029239GT[17], NC_000012.12:g.10029239GT[18], NC_000012.12:g.10029239GT[19], NC_000012.12:g.10029239GT[20], NC_000012.11:g.10181838GT[7], NC_000012.11:g.10181838GT[8], NC_000012.11:g.10181838GT[9], NC_000012.11:g.10181838GT[10], NC_000012.11:g.10181838GT[12], NC_000012.11:g.10181838GT[13], NC_000012.11:g.10181838GT[14], NC_000012.11:g.10181838GT[15], NC_000012.11:g.10181838GT[16], NC_000012.11:g.10181838GT[17], NC_000012.11:g.10181838GT[18], NC_000012.11:g.10181838GT[19], NC_000012.11:g.10181838GT[20]
2.
rs1491497324 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTT
[Show Flanks]
- Chromosome:
- 12:10032390
(GRCh38)
12:10184990
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10032390:TT:TTCTT
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCTT=0.00025/3
(
ALFA)
TTC=0.00004/0
(TOMMO)
TTC=0.00422/37
(GnomAD)
- HGVS:
3.
rs1491120049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 12:10029239
(GRCh38)
12:10181839
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10029239:T:TAT
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0.00008/1
(
ALFA)
TA=0.0333/844
(GnomAD)
- HGVS:
4.
rs1491098360 has merged into rs10647036 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:10032399
(GRCh38)
12:10184998
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:10032389:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.10032399_10032408del, NC_000012.12:g.10032400_10032408del, NC_000012.12:g.10032402_10032408del, NC_000012.12:g.10032403_10032408del, NC_000012.12:g.10032404_10032408del, NC_000012.12:g.10032405_10032408del, NC_000012.12:g.10032406_10032408del, NC_000012.12:g.10032407_10032408del, NC_000012.12:g.10032408del, NC_000012.12:g.10032408dup, NC_000012.12:g.10032407_10032408dup, NC_000012.12:g.10032406_10032408dup, NC_000012.12:g.10032405_10032408dup, NC_000012.12:g.10032404_10032408dup, NC_000012.12:g.10032403_10032408dup, NC_000012.12:g.10032402_10032408dup, NC_000012.12:g.10032401_10032408dup, NC_000012.12:g.10032400_10032408dup, NC_000012.12:g.10032399_10032408dup, NC_000012.12:g.10032393_10032408dup, NC_000012.11:g.10184998_10185007del, NC_000012.11:g.10184999_10185007del, NC_000012.11:g.10185001_10185007del, NC_000012.11:g.10185002_10185007del, NC_000012.11:g.10185003_10185007del, NC_000012.11:g.10185004_10185007del, NC_000012.11:g.10185005_10185007del, NC_000012.11:g.10185006_10185007del, NC_000012.11:g.10185007del, NC_000012.11:g.10185007dup, NC_000012.11:g.10185006_10185007dup, NC_000012.11:g.10185005_10185007dup, NC_000012.11:g.10185004_10185007dup, NC_000012.11:g.10185003_10185007dup, NC_000012.11:g.10185002_10185007dup, NC_000012.11:g.10185001_10185007dup, NC_000012.11:g.10185000_10185007dup, NC_000012.11:g.10184999_10185007dup, NC_000012.11:g.10184998_10185007dup, NC_000012.11:g.10184992_10185007dup
5.
rs1491069166 has merged into rs71434106 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:10029390
(GRCh38)
12:10181989
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:10029379:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.22324/1118
(1000Genomes)
T=0.45/18
(GENOME_DK)
- HGVS:
NC_000012.12:g.10029390_10029394del, NC_000012.12:g.10029392_10029394del, NC_000012.12:g.10029393_10029394del, NC_000012.12:g.10029394del, NC_000012.12:g.10029394dup, NC_000012.12:g.10029393_10029394dup, NC_000012.12:g.10029389_10029394dup, NC_000012.11:g.10181989_10181993del, NC_000012.11:g.10181991_10181993del, NC_000012.11:g.10181992_10181993del, NC_000012.11:g.10181993del, NC_000012.11:g.10181993dup, NC_000012.11:g.10181992_10181993dup, NC_000012.11:g.10181988_10181993dup
6.
rs1490930691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10018256
(GRCh38)
12:10170855
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10018255:A:G
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490802469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:10017648
(GRCh38)
12:10170247
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017647:T:G
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490216806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 12:10017879
(GRCh38)
12:10170478
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017878:C:A,NC_000012.12:10017878:C:T
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.000684/2
(KOREAN)
- HGVS:
NC_000012.12:g.10017879C>A, NC_000012.12:g.10017879C>T, NC_000012.11:g.10170478C>A, NC_000012.11:g.10170478C>T, NM_205852.3:c.*2133C>A, NM_205852.3:c.*2133C>T, NM_205852.2:c.*2133C>A, NM_205852.2:c.*2133C>T, NM_001319242.1:c.*2133C>A, NM_001319242.1:c.*2133C>T, XM_047428833.1:c.*2140C>A, XM_047428833.1:c.*2140C>T
9.
rs1490177062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:10028683
(GRCh38)
12:10181282
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10028682:A:C
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489656126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 12:10019026
(GRCh38)
12:10171625
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10019025:T:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489606739 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:10032009
(GRCh38)
12:10184608
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10032008:A:C,NC_000012.12:10032008:A:G
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1489124271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10015776
(GRCh38)
12:10168375
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10015775:G:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000142/2
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1488940277 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:10030911
(GRCh38)
12:10183510
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10030910:A:G
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488830424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10025395
(GRCh38)
12:10177994
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10025394:T:C
- Gene:
- LOC102724020 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
16.
rs1488795693 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10017196
(GRCh38)
12:10169795
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017195:T:C
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488770678 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:10032356
(GRCh38)
12:10184955
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10032355:T:C,NC_000012.12:10032355:T:G
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000022/3
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
18.
rs1488754636 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:10029969
(GRCh38)
12:10182568
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10029968:T:C,NC_000012.12:10029968:T:G
- Gene:
- CLEC9A (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
C=0.000177/3
(TOMMO)
- HGVS:
19.
rs1488693169 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:10017624
(GRCh38)
12:10170223
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10017623:T:C
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488642497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:10016323
(GRCh38)
12:10168922
(GRCh37)
- Canonical SPDI:
- NC_000012.12:10016322:G:A
- Gene:
- CLEC12B (Varview), LOC102724020 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: