Links from Nucleotide
Items: 1 to 20 of 480
1.
rs1489440982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:18211407
(GRCh38)
11:18232954
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18211406:C:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- 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:
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.
rs1481600959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 11:18210919
(GRCh38)
11:18232466
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210918:T:A,NC_000011.10:18210918:T:C
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1478522012 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:18210844
(GRCh38)
11:18232391
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210843:C:A
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
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:
13.
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:
14.
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:
15.
rs1468707298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:18211020
(GRCh38)
11:18232567
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18211019:T:G
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- 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)
- HGVS:
17.
rs1467423890 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 11:18210893
(GRCh38)
11:18232440
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210892:T:
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000042/11
(TOPMED)
- HGVS:
18.
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:
19.
rs1465390836 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:18210993
(GRCh38)
11:18232540
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18210992:C:T
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0./0
(GnomAD)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1463806885 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:18211497
(GRCh38)
11:18233044
(GRCh37)
- Canonical SPDI:
- NC_000011.10:18211496:A:G
- Gene:
- SLC25A51P4 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: