Links from Gene
Items: 1 to 20 of 1885
2.
rs1491447333 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:95060129
(GRCh38)
1:95525685
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95060127:AAA:A
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
-=0.00026/19
(GnomAD)
- HGVS:
3.
rs1490210944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:95060062
(GRCh38)
1:95525618
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95060061:A:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489787085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:95067505
(GRCh38)
1:95533061
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95067504:T:C
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489195225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:95067373
(GRCh38)
1:95532929
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95067372:T:C
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1488626172 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:95060090
(GRCh38)
1:95525646
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95060089:C:G
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000042/11
(TOPMED)
- HGVS:
7.
rs1488607976 has merged into rs1211071279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 1:95065114
(GRCh38)
1:95530670
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95065113:GGGGGGG:GGGGGG,NC_000001.11:95065113:GGGGGGG:GGGGGGGG
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1487930431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:95067019
(GRCh38)
1:95532575
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95067018:T:C
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487500431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:95060262
(GRCh38)
1:95525818
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95060261:G:A
- Gene:
- ALG14 (Varview), ALG14-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=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1486990411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:95061035
(GRCh38)
1:95526591
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95061034:G:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1486665708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:95062167
(GRCh38)
1:95527723
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95062166:C:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
13.
rs1485202904 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:95060003
(GRCh38)
1:95525559
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95060002:G:A
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1484803653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:95063982
(GRCh38)
1:95529538
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95063981:G:C
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1484716855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 1:95064121
(GRCh38)
1:95529677
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95064120:C:A,NC_000001.11:95064120:C:G,NC_000001.11:95064120:C:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00005/1
(
ALFA)
T=0.00022/1
(Estonian)
- HGVS:
17.
rs1484667991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:95068009
(GRCh38)
1:95533565
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95068008:C:A
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1484597033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:95066943
(GRCh38)
1:95532499
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95066942:A:G
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484523832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:95061730
(GRCh38)
1:95527286
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95061729:A:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1484198890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:95066002
(GRCh38)
1:95531558
(GRCh37)
- Canonical SPDI:
- NC_000001.11:95066001:C:T
- Gene:
- ALG14 (Varview), ALG14-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS: