Links from Nucleotide
Items: 1 to 20 of 442
1.
rs1490701565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:18213374
(GRCh38)
11:18234921
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18213373:T:C
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
2.
rs1488800196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18209889
(GRCh38)
11:18231436
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209888:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_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:
3.
rs1486968780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18213284
(GRCh38)
11:18234831
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18213283:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
4.
rs1486444525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18209913
(GRCh38)
11:18231460
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209912:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
5.
rs1486154206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:18210287
(GRCh38)
11:18231834
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210286:C:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000023/6
(TOPMED)
- HGVS:
6.
rs1483012837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:18209788
(GRCh38)
11:18231335
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209787:C:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
7.
rs1482934900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:18210389
(GRCh38)
11:18231936
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210388:C:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1482028400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:18210170
(GRCh38)
11:18231717
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210169:A:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1476436174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:18213106
(GRCh38)
11:18234653
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18213105:A:G
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1474001611 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:18209862
(GRCh38)
11:18231409
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209861:A:G,NC_000011.10:18209861:A:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1472333295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:18209732
(GRCh38)
11:18231279
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209731:C:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1471349466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18210084
(GRCh38)
11:18231631
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210083:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1467939974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:18213540
(GRCh38)
11:18235087
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18213539:G:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00007/9
(GnomAD)
- HGVS:
16.
rs1466858708 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18209705
(GRCh38)
11:18231252
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209704:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
17.
rs1462775118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:18210513
(GRCh38)
11:18232060
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210512:G:C
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1461928780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:18209835
(GRCh38)
11:18231382
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18209834:A:G
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1461712816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:18213495
(GRCh38)
11:18235042
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18213494:G:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: