Links from Gene
Items: 1 to 20 of 1093
1.
rs1490657554 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:37171385
(GRCh38)
14:37640590
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37171384:A:G
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490308430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37171240
(GRCh38)
14:37640445
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37171239:G:A
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,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)
...more- HGVS:
4.
rs1489393925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37172591
(GRCh38)
14:37641796
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172590:T:C
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488582144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37172551
(GRCh38)
14:37641756
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172550:G:A
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
...more- HGVS:
7.
rs1487833432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:37173475
(GRCh38)
14:37642680
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37173474:A:G
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
...more- HGVS:
8.
rs1487505730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:37172879
(GRCh38)
14:37642084
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172878:G:C
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1487183528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37173445
(GRCh38)
14:37642650
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37173444:T:C
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1486953452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37172362
(GRCh38)
14:37641567
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172361:G:A
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
11.
rs1486618350 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 14:37171042
(GRCh38)
14:37640247
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37171041:C:A,NC_000014.9:37171041:C:G,NC_000014.9:37171041:C:T
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
A=0.000071/1
(TOMMO)
...more- HGVS:
13.
rs1486129510 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37173643
(GRCh38)
14:37642848
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37173642:T:C
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
14.
rs1485977522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37172603
(GRCh38)
14:37641808
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172602:G:A
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000007/1
(GnomAD_exomes)
- HGVS:
15.
rs1485122013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:37172121
(GRCh38)
14:37641326
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172120:C:G
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000531/9
(TOMMO)
...more- HGVS:
16.
rs1484234692 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 14:37170605
(GRCh38)
14:37639810
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37170604:G:T
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
...more- HGVS:
17.
rs1483344608 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:37172055
(GRCh38)
14:37641260
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37172054:C:T
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
...more- HGVS:
18.
rs1482873247 has merged into rs1377957332 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGGG>-,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGGGGGG
[Show Flanks]
- Chromosome:
- 14:37171112
(GRCh38)
14:37640317
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37171110:GGGGGG:G,NC_000014.9:37171110:GGGGGG:GGGGGGGGGG,NC_000014.9:37171110:GGGGGG:GGGGGGGGGGG,NC_000014.9:37171110:GGGGGG:GGGGGGGGGGGGGGGG
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGGGG=0./0
(
ALFA)
-=0.00219/14
(1000Genomes)
- HGVS:
19.
rs1481194777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:37173953
(GRCh38)
14:37643158
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37173952:T:C
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000011/3
(TOPMED)
...more- HGVS:
20.
rs1480998025 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:37173911
(GRCh38)
14:37643116
(GRCh37)
- Canonical SPDI:
- NC_000014.9:37173910:G:A
- Gene:
- SLC25A21 (Varview), SLC25A21-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: