Links from Nucleotide
Items: 1 to 20 of 375
1.
rs1489058212 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:65788780
(GRCh38)
6:66498673
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788779:A:C,NC_000006.12:65788779:A:G
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.5/1
(SGDP_PRJ)
- HGVS:
3.
rs1486195131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:65788265
(GRCh38)
6:66498158
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788264:C:G
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
4.
rs1485027198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:65789150
(GRCh38)
6:66499043
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65789149:T:A
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1484705542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:65788530
(GRCh38)
6:66498423
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788529:C:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1482596454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:65787987
(GRCh38)
6:66497880
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65787986:G:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1482534107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:65788827
(GRCh38)
6:66498720
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788826:G:A
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000342/1
(KOREAN)
A=0.001451/24
(TOMMO)
- HGVS:
10.
rs1479115650 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 6:65789434
(GRCh38)
6:66499327
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65789433:TTTT:TTT
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000044/6
(GnomAD)
-=0.000045/12
(TOPMED)
- HGVS:
11.
rs1478967974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 6:65788572
(GRCh38)
6:66498465
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788571:G:A,NC_000006.12:65788571:G:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1476131090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:65788732
(GRCh38)
6:66498625
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788731:T:C
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000143/20
(GnomAD)
C=0.000204/54
(TOPMED)
- HGVS:
13.
rs1473425737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:65788843
(GRCh38)
6:66498736
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788842:T:G
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
14.
rs1473323477 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 6:65789442
(GRCh38)
6:66499335
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65789441:AA:A
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
15.
rs1472060403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:65788030
(GRCh38)
6:66497923
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788029:A:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1471355400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:65788524
(GRCh38)
6:66498417
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788523:C:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1470057046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:65789108
(GRCh38)
6:66499001
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65789107:A:G
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
19.
rs1468565977 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:65788550
(GRCh38)
6:66498443
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788549:C:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
20.
rs1467970267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:65788460
(GRCh38)
6:66498353
(GRCh37)
- Canonical SPDI:
- NC_000006.12:65788459:C:T
- Gene:
- SLC25A51P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS: