Links from Gene
Items: 1 to 20 of 2517
1.
rs1491578771 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:43706603
(GRCh38)
1:44172274
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43706602:CT:
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490898288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43706000
(GRCh38)
1:44171671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43705999:A:G
- Gene:
- ST3GAL3 (Varview), KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490560006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:43707958
(GRCh38)
1:44173629
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43707957:C:T
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
NC_000001.11:g.43707958C>T, NC_000001.10:g.44173629C>T, NG_028196.1:g.5412C>T, XM_017002113.2:c.-159C>T, XM_017002113.1:c.-159C>T, XM_047428185.1:c.-205C>T, XM_047428200.1:c.-205C>T, XM_047428199.1:c.-159C>T, XM_047428221.1:c.-205C>T, XM_047428232.1:c.-205C>T, XM_047428273.1:c.-205C>T
4.
rs1490409962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:43704871
(GRCh38)
1:44170542
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43704870:C:T
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
5.
rs1490079520 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:43707016
(GRCh38)
1:44172687
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43707015:T:C
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.00003/8
(TOPMED)
C=0.001092/2
(Korea1K)
C=0.001345/23
(TOMMO)
C=0.001711/5
(KOREAN)
- HGVS:
6.
rs1489985664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:43700474
(GRCh38)
1:44166145
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43700473:C:T
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489947001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:43704842
(GRCh38)
1:44170513
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43704841:C:A
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
9.
rs1489467774 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAAGGCGGGGTCGGGGCACGG
[Show Flanks]
- Chromosome:
- 1:43707824
(GRCh38)
1:44173496
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43707824:CGGGAAGGCGGGGTCGGGGCACGG:CGGGAAGGCGGGGTCGGGGCACGGGAAGGCGGGGTCGGGGCACGG
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CGGGAAGGCGGGGTCGGGGCACGGGAAGGCGGGGTCGGGGCACGG=0./0
(
ALFA)
CGGGAAGGCGGGGTCGGGGCA=0.000029/4
(GnomAD)
CGGGAAGGCGGGGTCGGGGCA=0.000156/1
(1000Genomes)
- HGVS:
NC_000001.11:g.43707828_43707848dup, NC_000001.10:g.44173499_44173519dup, NG_028196.1:g.5282_5302dup, XM_017002113.2:c.-289_-269dup, XM_017002113.1:c.-269_-268insGAAGGCGGGGTCGGGGCACGG, XM_017002113.1:c.-269_-268insGAAGGCGGGGTCGGGGCACGGGAAGGCGGGGTCGGGGCACGG, XM_047428185.1:c.-335_-315dup, XM_047428200.1:c.-335_-315dup, XM_047428199.1:c.-289_-269dup, XM_047428221.1:c.-335_-315dup, XM_047428232.1:c.-335_-315dup, XM_047428273.1:c.-335_-315dup
10.
rs1488877625 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:43702227
(GRCh38)
1:44167898
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43702226:G:
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488565345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:43699567
(GRCh38)
1:44165238
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43699566:T:C
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
12.
rs1488514133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:43700462
(GRCh38)
1:44166133
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43700458:TGTGT:TGT
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
13.
rs1488397126 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:43705778
(GRCh38)
1:44171449
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43705776:ACA:A
- Gene:
- ST3GAL3 (Varview), KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
14.
rs1488347131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:43709102
(GRCh38)
1:44174773
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43709101:G:A
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview), ST3GAL3-AS1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,genic_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:
15.
rs1488167007 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43702355
(GRCh38)
1:44168026
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43702354:A:G
- Gene:
- KDM4A (Varview), KDM4A-AS1 (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:
16.
rs1488085619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43708855
(GRCh38)
1:44174526
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43708854:A:G
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487731220 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43708319
(GRCh38)
1:44173990
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43708318:A:G
- Gene:
- ST3GAL3 (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_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:
18.
rs1487478985 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43705324
(GRCh38)
1:44170995
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43705323:A:G
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487386784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:43703626
(GRCh38)
1:44169297
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43703625:T:C
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1487270273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:43702776
(GRCh38)
1:44168447
(GRCh37)
- Canonical SPDI:
- NC_000001.11:43702775:A:G
- Gene:
- KDM4A (Varview), KDM4A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: