Links from Gene
Items: 1 to 20 of 8168
1.
rs1491583676 has merged into rs202045519 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 3:20007008
(GRCh38)
3:20048500
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20007005:TATA:TA,NC_000003.12:20007005:TATA:TATATA
- Gene:
- PP2D1 (Varview), LOC124909352 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0./0
(
ALFA)
-=0.00003/2
(GnomAD)
- HGVS:
2.
rs1491574409 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 3:20012813
(GRCh38)
3:20054306
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20012813:T:TGT
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.00396/47
(
ALFA)
TG=0.0044/412
(GnomAD)
TG=0.01254/7
(NorthernSweden)
...more- HGVS:
3.
rs1491541217 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->ACGT,AT
[Show Flanks]
- Chromosome:
- 3:20007004
(GRCh38)
3:20048497
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20007004::ACGT,NC_000003.12:20007004::AT
- Gene:
- PP2D1 (Varview), LOC124909352 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACGT=0./0
(
ALFA)
ACGT=0.000011/3
(TOPMED)
- HGVS:
4.
rs1491482795 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 3:20012933
(GRCh38)
3:20054426
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20012933::G
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000078/8
(GnomAD)
- HGVS:
5.
rs1491415921 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 3:19985514
(GRCh38)
3:20027006
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19985513:TA:
- Gene:
- RAB5A (Varview), PP2D1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,frameshift_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
-=0.000007/1
(GnomAD_exomes)
- HGVS:
6.
rs1491412799 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:20012939
(GRCh38)
3:20054431
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20012932:ATATATAT:ATATAT
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATAT=0./0
(
ALFA)
-=0.00004/3
(GnomAD)
- HGVS:
7.
rs1491120101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:19985514
(GRCh38)
3:20027007
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19985514:A:AA
- Gene:
- RAB5A (Varview), PP2D1 (Varview)
- Functional Consequence:
- coding_sequence_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
...more- HGVS:
8.
rs1491084504 has merged into rs35816290 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT
[Show Flanks]
- Chromosome:
- 3:19999558
(GRCh38)
3:20041050
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:19999545:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTT=0.0002/2
(
ALFA)
-=0.1954/753
(ALSPAC)
-=0.199/738
(TWINSUK)
-=0.2408/1206
(1000Genomes)
...more- HGVS:
10.
rs1491026180 has merged into rs1553641812 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACA
[Show Flanks]
- Chromosome:
- 3:20012922
(GRCh38)
3:20054414
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20012920:ACACA:A,NC_000003.12:20012920:ACACA:ACA,NC_000003.12:20012920:ACACA:ACACACA
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACA=0./0
(
ALFA)
-=0.00333/6
(Korea1K)
- HGVS:
11.
rs1491015021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 3:19983364
(GRCh38)
3:20024856
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19983362:AGA:A
- Gene:
- RAB5A (Varview), PP2D1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
12.
rs1490898282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:19987172
(GRCh38)
3:20028664
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19987171:A:G
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490848342 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:20006358
(GRCh38)
3:20047850
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20006357:A:G
- Gene:
- PP2D1 (Varview), LOC124909352 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490834384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:20013691
(GRCh38)
3:20055183
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20013690:C:T
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490791324 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:19986971
(GRCh38)
3:20028463
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19986970:A:T
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
16.
rs1490749206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:19984193
(GRCh38)
3:20025685
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19984192:C:T
- Gene:
- RAB5A (Varview), PP2D1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,splice_donor_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
...more- HGVS:
17.
rs1490630440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:19997757
(GRCh38)
3:20039249
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19997756:G:T
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490575749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:19996846
(GRCh38)
3:20038338
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19996845:C:T
- Gene:
- PP2D1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
...more- HGVS:
19.
rs1490565001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:20008242
(GRCh38)
3:20049734
(GRCh37)
- Canonical SPDI:
- NC_000003.12:20008241:A:G
- Gene:
- PP2D1 (Varview), LOC124909352 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490515614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:19982971
(GRCh38)
3:20024463
(GRCh37)
- Canonical SPDI:
- NC_000003.12:19982970:G:A
- Gene:
- RAB5A (Varview), PP2D1 (Varview)
- Functional Consequence:
- intron_variant,genic_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)
...more- HGVS: