Links from Nucleotide
Items: 1 to 20 of 500
1.
rs1490952276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35447374
(GRCh38)
9:35447371
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35447373:G:A
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490663873 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35406816
(GRCh38)
9:35406813
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35406815:C:T
- Gene:
- ATP8B5P (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:
3.
rs1490230627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:35447277
(GRCh38)
9:35447274
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35447276:T:C
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
4.
rs1486758534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35449579
(GRCh38)
9:35449576
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35449578:C:T
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00032/6
(
ALFA)
T=0.00112/5
(Estonian)
- HGVS:
5.
rs1485235864 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 9:35450422
(GRCh38)
9:35450419
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35450421:T:C,NC_000009.12:35450421:T:G
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
NC_000009.12:g.35450422T>C, NC_000009.12:g.35450422T>G, NC_000009.11:g.35450419T>C, NC_000009.11:g.35450419T>G, NG_029329.2:g.883T>C, NG_029329.2:g.883T>G, NM_001029857.2:c.*94T>C, NM_001029857.2:c.*94T>G, NR_003582.1:n.1829T>C, NR_003582.1:n.1829T>G, NR_110320.1:n.1825T>C, NR_110320.1:n.1825T>G
6.
rs1483691173 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:35449744
(GRCh38)
9:35449741
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35449743:G:T
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1483659445 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 9:35450899
(GRCh38)
9:35450896
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35450898:T:A,NC_000009.12:35450898:T:G
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.35450899T>A, NC_000009.12:g.35450899T>G, NC_000009.11:g.35450896T>A, NC_000009.11:g.35450896T>G, NG_029329.2:g.1360T>A, NG_029329.2:g.1360T>G, NM_001029857.2:c.*572T>A, NM_001029857.2:c.*572T>G, NR_003582.1:n.2306T>A, NR_003582.1:n.2306T>G, NR_110320.1:n.2302T>A, NR_110320.1:n.2302T>G
8.
rs1483364123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35440427
(GRCh38)
9:35440424
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35440426:G:A
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
9.
rs1482912308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:35433736
(GRCh38)
9:35433733
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35433735:A:C
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
10.
rs1482644702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:35406827
(GRCh38)
9:35406824
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35406826:G:C
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_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:
11.
rs1482418355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:35438787
(GRCh38)
9:35438784
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35438786:T:C
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
12.
rs1482410846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 9:35406781
(GRCh38)
9:35406778
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35406780:GG:G
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480618080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:35450756
(GRCh38)
9:35450753
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35450755:T:G
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1477955718 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:35450809
(GRCh38)
9:35450806
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35450808:TT:T
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
16.
rs1476272782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:35444862
(GRCh38)
9:35444859
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35444861:A:G
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- 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.
rs1472256244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:35450403
(GRCh38)
9:35450400
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35450402:T:C
- Gene:
- ATP8B5P (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:
18.
rs1471393085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35406826
(GRCh38)
9:35406823
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35406825:C:T
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1469429319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35444410
(GRCh38)
9:35444407
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35444409:G:A
- Gene:
- ATP8B5P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS: