Links from Gene
Items: 1 to 20 of 769
1.
rs1488840505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:10625539
(GRCh38)
3:10667224
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10625538:C:T
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
2.
rs1488542803 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:10625783
(GRCh38)
3:10667468
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10625782:T:C
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_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:
3.
rs1488216043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 3:10626209
(GRCh38)
3:10667894
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10626202:AGAGAGAG:AGAGAG
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488057683 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:10625881
(GRCh38)
3:10667566
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10625880:T:C
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487561887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:10625772
(GRCh38)
3:10667457
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10625771:T:C
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_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)
C=0.000342/1
(KOREAN)
C=0.000546/1
(Korea1K)
T=0.5/1
(SGDP_PRJ)
- HGVS:
7.
rs1485568384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:10627830
(GRCh38)
3:10669515
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10627829:T:A
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
8.
rs1485344544 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:10628601
(GRCh38)
3:10670286
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10628600:C:T
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
9.
rs1485238870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:10626511
(GRCh38)
3:10668196
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10626510:G:A
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
10.
rs1484606246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:10628442
(GRCh38)
3:10670127
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10628441:G:C
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1482065596 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:10625658
(GRCh38)
3:10667343
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10625657:G:A
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant,genic_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:
12.
rs1480137385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:10627355
(GRCh38)
3:10669040
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10627354:A:T
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1479680562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:10627699
(GRCh38)
3:10669384
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10627698:A:G
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_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:
15.
rs1478170776 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:10627418
(GRCh38)
3:10669103
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10627417:G:A
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_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:
17.
rs1477321039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:10626417
(GRCh38)
3:10668102
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10626416:C:T
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000071/1
(TOMMO)
- HGVS:
19.
rs1474583435 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:10628433
(GRCh38)
3:10670118
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10628432:C:T
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1474198780 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:10627528
(GRCh38)
3:10669213
(GRCh37)
- Canonical SPDI:
- NC_000003.12:10627527:C:A
- Gene:
- ATP2B2 (Varview), ATP2B2-IT2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: