Links from Gene
Items: 1 to 20 of 1271
1.
rs1491471721 has merged into rs35442441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:210232177
(GRCh38)
1:210405522
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:210232164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.45/18
(GENOME_DK)
- HGVS:
NC_000001.11:g.210232177_210232180del, NC_000001.11:g.210232179_210232180del, NC_000001.11:g.210232180del, NC_000001.11:g.210232180dup, NC_000001.11:g.210232179_210232180dup, NC_000001.11:g.210232178_210232180dup, NC_000001.11:g.210232177_210232180dup, NC_000001.11:g.210232171_210232180dup, NC_000001.11:g.210232170_210232180dup, NC_000001.11:g.210232180_210232181insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.210405522_210405525del, NC_000001.10:g.210405524_210405525del, NC_000001.10:g.210405525del, NC_000001.10:g.210405525dup, NC_000001.10:g.210405524_210405525dup, NC_000001.10:g.210405523_210405525dup, NC_000001.10:g.210405522_210405525dup, NC_000001.10:g.210405516_210405525dup, NC_000001.10:g.210405515_210405525dup, NC_000001.10:g.210405525_210405526insTTTTTTTTTTTTTTTTTT, NW_011332687.1:g.11919_11922del, NW_011332687.1:g.11921_11922del, NW_011332687.1:g.11922del, NW_011332687.1:g.11922dup, NW_011332687.1:g.11921_11922dup, NW_011332687.1:g.11920_11922dup, NW_011332687.1:g.11919_11922dup, NW_011332687.1:g.11913_11922dup, NW_011332687.1:g.11912_11922dup, NW_011332687.1:g.11922_11923insTTTTTTTTTTTTTTTTTT
2.
rs1491322844 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 1:210233994
(GRCh38)
1:210407340
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210233994::TA
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0./0
(
ALFA)
TA=0.000057/15
(TOPMED)
TA=0.000111/15
(GnomAD)
- HGVS:
3.
rs1491226894 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:210233994
(GRCh38)
1:210407339
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210233993:TA:
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00084/10
(
ALFA)
-=0.00227/220
(GnomAD)
- HGVS:
4.
rs1490561179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:210234691
(GRCh38)
1:210408036
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210234690:A:C,NC_000001.11:210234690:A:G
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490254495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:210233778
(GRCh38)
1:210407123
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210233777:C:A,NC_000001.11:210233777:C:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (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=0.000007/1
(GnomAD_exomes)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1488324818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:210231915
(GRCh38)
1:210405260
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210231914:G:A
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
- HGVS:
8.
rs1487993763 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:210232866
(GRCh38)
1:210406211
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232865:T:C
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_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)
C=0.000156/1
(1000Genomes)
- HGVS:
9.
rs1487880532 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:210232195
(GRCh38)
1:210405540
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232194:T:C
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
C=0.0275/80
(KOREAN)
- HGVS:
10.
rs1487826069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:210232816
(GRCh38)
1:210406161
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232815:C:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.000057/15
(TOPMED)
- HGVS:
11.
rs1487734452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 1:210233527
(GRCh38)
1:210406872
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210233526:A:C,NC_000001.11:210233526:A:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
12.
rs1487498272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 1:210232485
(GRCh38)
1:210405830
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232484:T:A
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
13.
rs1487424304 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:210232808
(GRCh38)
1:210406153
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232807:G:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
14.
rs1487405887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:210233198
(GRCh38)
1:210406543
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210233197:G:A,NC_000001.11:210233197:G:C,NC_000001.11:210233197:G:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
T=0.000312/2
(1000Genomes)
- HGVS:
15.
rs1487305054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:210235407
(GRCh38)
1:210408752
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210235406:T:C
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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:
16.
rs1486419791 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:210235920
(GRCh38)
1:210409265
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210235919:C:A
- Gene:
- SERTAD4 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS:
17.
rs1485997188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:210232165
(GRCh38)
1:210405510
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232164:T:C
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000063/1
(GnomAD)
- HGVS:
18.
rs1485866295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:210232135
(GRCh38)
1:210405480
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232134:C:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
19.
rs1485466754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:210232095
(GRCh38)
1:210405440
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210232094:G:A
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485348384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 1:210234286
(GRCh38)
1:210407631
(GRCh37)
- Canonical SPDI:
- NC_000001.11:210234285:G:A,NC_000001.11:210234285:G:C,NC_000001.11:210234285:G:T
- Gene:
- SERTAD4 (Varview), SERTAD4-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
C=0.001028/3
(KOREAN)
- HGVS: