Links from Gene
Items: 1 to 20 of 3467
1.
rs1491300287 has merged into rs35078476 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 17:81720823
(GRCh38)
17:79687853
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81720822:CCCCCCC:CCCCCC,NC_000017.11:81720822:CCCCCCC:CCCCCCCC
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCC=0./0
(
ALFA)
-=0.00006/1
(TOMMO)
-=0.00031/2
(1000Genomes)
-=0.00055/1
(Korea1K)
-=0.06012/60
(GoNL)
- HGVS:
NC_000017.11:g.81720829del, NC_000017.11:g.81720829dup, NC_000017.10:g.79687859del, NC_000017.10:g.79687859dup, NM_012140.5:c.*752del, NM_012140.5:c.*752dup, NM_012140.4:c.*752del, NM_012140.4:c.*752dup, NM_001270888.2:c.*752del, NM_001270888.2:c.*752dup, NM_001270888.1:c.*752del, NM_001270888.1:c.*752dup, NM_001270953.2:c.*312del, NM_001270953.2:c.*312dup, NM_001270953.1:c.*312del, NM_001270953.1:c.*312dup, XM_047435432.1:c.*752del, XM_047435432.1:c.*752dup
2.
rs1490941925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:81720608
(GRCh38)
17:79687638
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81720607:G:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490693749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:81718104
(GRCh38)
17:79685134
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81718103:GGG:GG
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- frameshift_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490592293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:81716987
(GRCh38)
17:79684017
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81716986:C:T
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490117102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:81712882
(GRCh38)
17:79679912
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81712881:T:C
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.000043/6
(GnomAD)
- HGVS:
6.
rs1489989533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:81719133
(GRCh38)
17:79686163
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81719132:A:G
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489641519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:81718483
(GRCh38)
17:79685513
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81718482:C:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489575366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:81721030
(GRCh38)
17:79688060
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81721029:G:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
9.
rs1489555019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:81721363
(GRCh38)
17:79688393
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81721362:C:T
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
C=0.5/1
(SGDP_PRJ)
- HGVS:
10.
rs1489299019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:81718415
(GRCh38)
17:79685445
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81718414:G:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1489104090 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 17:81710403
(GRCh38)
17:79677433
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81710400:CACA:CA
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACA=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000064/9
(GnomAD)
- HGVS:
12.
rs1488995827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:81721262
(GRCh38)
17:79688292
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81721261:G:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488452099 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:81718154
(GRCh38)
17:79685184
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81718153:T:C
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,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:
14.
rs1488080608 has merged into rs1038613889 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 17:81712297
(GRCh38)
17:79679327
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81712296:GGGG:GGG,NC_000017.11:81712296:GGGG:GGGGG
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0.00005/1
(
ALFA)
-=0.00022/1
(Estonian)
- HGVS:
NC_000017.11:g.81712300del, NC_000017.11:g.81712300dup, NC_000017.10:g.79679330del, NC_000017.10:g.79679330dup, NM_012140.5:c.-127del, NM_012140.5:c.-127dup, NM_012140.4:c.-127del, NM_012140.4:c.-127dup, NM_001270888.2:c.-127del, NM_001270888.2:c.-127dup, NM_001270888.1:c.-127del, NM_001270888.1:c.-127dup, NM_001270953.2:c.-127del, NM_001270953.2:c.-127dup, NM_001270953.1:c.-127del, NM_001270953.1:c.-127dup, XM_047435431.1:c.-127del, XM_047435431.1:c.-127dup
15.
rs1487999195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:81718897
(GRCh38)
17:79685927
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81718896:C:T
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
17.
rs1487613811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:81712157
(GRCh38)
17:79679187
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81712156:G:T
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1487552993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:81712609
(GRCh38)
17:79679639
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81712608:G:A,NC_000017.11:81712608:G:C
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487334491 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 17:81717609
(GRCh38)
17:79684639
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81717608:T:
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486707585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:81717347
(GRCh38)
17:79684377
(GRCh37)
- Canonical SPDI:
- NC_000017.11:81717346:T:A
- Gene:
- SLC25A10 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
- HGVS: