Links from Gene
Items: 1 to 20 of 972
1.
rs1488417722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:53441045
(GRCh38)
1:53906718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53441044:T:C
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488218547 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53437870
(GRCh38)
1:53903543
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53437869:C:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_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:
3.
rs1486580179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53438392
(GRCh38)
1:53904065
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53438391:C:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
4.
rs1486245062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:53438772
(GRCh38)
1:53904445
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53438771:T:C,NC_000001.11:53438771:T:G
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
C=0.001638/3
(Korea1K)
- HGVS:
5.
rs1486137039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:53439554
(GRCh38)
1:53905227
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53439553:G:A,NC_000001.11:53439553:G:C
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000054/1
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
6.
rs1486058178 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53439280
(GRCh38)
1:53904953
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53439279:C:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
T=0.000425/7
(TOMMO)
T=0.000685/2
(KOREAN)
- HGVS:
7.
rs1486035841 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:53441955
(GRCh38)
1:53907629
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53441955::G
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000034/9
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
8.
rs1484688772 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:53439708
(GRCh38)
1:53905381
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53439707:T:C
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1484469040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53438606
(GRCh38)
1:53904279
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53438605:G:A
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
11.
rs1484358571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:53440180
(GRCh38)
1:53905853
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53440179:C:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (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:
12.
rs1482600629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:53440530
(GRCh38)
1:53906203
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53440529:C:A
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- 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)
- HGVS:
13.
rs1481194975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:53440193
(GRCh38)
1:53905866
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53440192:G:C
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_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.
rs1480724209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:53441767
(GRCh38)
1:53907440
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53441766:G:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1476095877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53441730
(GRCh38)
1:53907403
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53441729:G:A
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- 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)
- HGVS:
16.
rs1475719921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:53440764
(GRCh38)
1:53906437
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53440763:C:G
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1475583071 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:53441811
(GRCh38)
1:53907484
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53441810:C:G,NC_000001.11:53441810:C:T
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1475539590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:53439493
(GRCh38)
1:53905166
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53439492:A:G
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1475340549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:53438921
(GRCh38)
1:53904594
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53438920:G:A
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1473953361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:53439201
(GRCh38)
1:53904874
(GRCh37)
- Canonical SPDI:
- NC_000001.11:53439200:T:C
- Gene:
- SLC25A3P1 (Varview), LOC105378733 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_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: