Links from Gene
Items: 1 to 20 of 1551
1.
rs1490057746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:33678501
(GRCh38)
9:33678499
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33678500:C:T
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1489708839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:33675635
(GRCh38)
9:33675633
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33675634:T:C
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488923282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:33676476
(GRCh38)
9:33676474
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33676475:G:A
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488264194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:33675783
(GRCh38)
9:33675781
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33675782:A:G
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487005233 has merged into rs74178894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCGCCGCCGCCGCCGCCG>-,CCG,CCGCCG,CCGCCGCCG,CCGCCGCCGCCG,CCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCG,CCGCCGCCGCCGCCGCCGCCGCCGCCGCCG
[Show Flanks]
- Chromosome:
- 9:33677020
(GRCh38)
9:33677018
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG,NC_000009.12:33677009:GCCGCCGCCGCCGCCGCCGCCGCCGCCG:GCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCGCCGCCGCCG=0./0
(
ALFA)
-=0.001/4
(ALSPAC)
GCC=0.05/2
(GENOME_DK)
GCC=0.1312/657
(1000Genomes)
- HGVS:
NC_000009.12:g.33677011CCG[3], NC_000009.12:g.33677011CCG[4], NC_000009.12:g.33677011CCG[5], NC_000009.12:g.33677011CCG[6], NC_000009.12:g.33677011CCG[7], NC_000009.12:g.33677011CCG[8], NC_000009.12:g.33677011CCG[10], NC_000009.12:g.33677011CCG[11], NC_000009.12:g.33677011CCG[12], NC_000009.12:g.33677011CCG[13], NC_000009.11:g.33677009CCG[3], NC_000009.11:g.33677009CCG[4], NC_000009.11:g.33677009CCG[5], NC_000009.11:g.33677009CCG[6], NC_000009.11:g.33677009CCG[7], NC_000009.11:g.33677009CCG[8], NC_000009.11:g.33677009CCG[10], NC_000009.11:g.33677009CCG[11], NC_000009.11:g.33677009CCG[12], NC_000009.11:g.33677009CCG[13], NG_001337.2:g.70551CCG[3], NG_001337.2:g.70551CCG[4], NG_001337.2:g.70551CCG[5], NG_001337.2:g.70551CCG[6], NG_001337.2:g.70551CCG[7], NG_001337.2:g.70551CCG[8], NG_001337.2:g.70551CCG[10], NG_001337.2:g.70551CCG[11], NG_001337.2:g.70551CCG[12], NG_001337.2:g.70551CCG[13], NR_023917.1:n.385GGC[3], NR_023917.1:n.385GGC[4], NR_023917.1:n.385GGC[5], NR_023917.1:n.385GGC[6], NR_023917.1:n.385GGC[7], NR_023917.1:n.385GGC[8], NR_023917.1:n.385GGC[10], NR_023917.1:n.385GGC[11], NR_023917.1:n.385GGC[12], NR_023917.1:n.385GGC[13]
8.
rs1486922968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:33677973
(GRCh38)
9:33677971
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33677972:G:A,NC_000009.12:33677972:G:C
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
9.
rs1486350148 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:33675233
(GRCh38)
9:33675231
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33675232:C:T
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1485418296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:33674778
(GRCh38)
9:33674776
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33674777:T:A
- Gene:
- PTENP1 (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)
- HGVS:
11.
rs1485305398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:33673639
(GRCh38)
9:33673637
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33673638:T:C
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
12.
rs1484766716 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 9:33674345
(GRCh38)
9:33674343
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33674343:TCT:T
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000015/2
(GnomAD)
- HGVS:
13.
rs1483542793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:33674612
(GRCh38)
9:33674610
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33674611:T:C
- Gene:
- PTENP1 (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:
14.
rs1483431753 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:33673492
(GRCh38)
9:33673490
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33673491:A:G
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
15.
rs1483096048 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:33677463
(GRCh38)
9:33677461
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33677462:C:G
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1483006035 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:33675536
(GRCh38)
9:33675534
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33675535:A:G
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000019/5
(TOPMED)
G=0.000212/4
(TOMMO)
- HGVS:
17.
rs1482469387 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:33673319
(GRCh38)
9:33673317
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33673318:G:A
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1479962519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:33673341
(GRCh38)
9:33673339
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33673340:G:A
- Gene:
- PTENP1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
19.
rs1479913620 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:33677426
(GRCh38)
9:33677424
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33677425:G:T
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1479802247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:33678603
(GRCh38)
9:33678601
(GRCh37)
- Canonical SPDI:
- NC_000009.12:33678602:T:C
- Gene:
- PTENP1 (Varview), PTENP1-AS (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS: