Links from Gene
Items: 1 to 20 of 602
1.
rs1490129086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72615381
(GRCh38)
11:72326425
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615380:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
2.
rs1486628866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72614777
(GRCh38)
11:72325821
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72614776:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
3.
rs1486322632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72615232
(GRCh38)
11:72326276
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615231:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000034/9
(TOPMED)
- HGVS:
4.
rs1486243844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72615105
(GRCh38)
11:72326149
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615104:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
5.
rs1485592103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72615907
(GRCh38)
11:72326951
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615906:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
6.
rs1484250993 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 11:72615833
(GRCh38)
11:72326878
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615833:AA:AAA
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1481947603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:72614947
(GRCh38)
11:72325991
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72614946:G:A,NC_000011.10:72614946:G:C
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1479000526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:72616089
(GRCh38)
11:72327133
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72616088:G:A,NC_000011.10:72616088:G:C
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00007/1
(TOMMO)
- HGVS:
9.
rs1478916241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:72616824
(GRCh38)
11:72327868
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72616823:C:T
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1478182672 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:72616450
(GRCh38)
11:72327494
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72616449:C:G
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1478136576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:72615495
(GRCh38)
11:72326539
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615494:G:T
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
12.
rs1477644434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:72614639
(GRCh38)
11:72325683
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72614638:T:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,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:
13.
rs1475644782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:72614960
(GRCh38)
11:72326004
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72614959:C:G,NC_000011.10:72614959:C:T
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000036/5
(GnomAD)
G=0.000156/1
(1000Genomes)
G=0.000223/1
(Estonian)
- HGVS:
14.
rs1470112879 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:72615154
(GRCh38)
11:72326198
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615153:A:G
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1467713883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:72614594
(GRCh38)
11:72325638
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72614593:G:A,NC_000011.10:72614593:G:T
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
- HGVS:
17.
rs1465258900 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72616053
(GRCh38)
11:72327097
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72616052:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
18.
rs1464878607 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:72615986
(GRCh38)
11:72327030
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615985:G:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1464857968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 11:72615597
(GRCh38)
11:72326641
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72615596:A:C
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00006/1
(TOMMO)
C=0.00218/4
(Korea1K)
- HGVS:
20.
rs1464705950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:72617046
(GRCh38)
11:72328090
(GRCh37)
- Canonical SPDI:
- NC_000011.10:72617045:C:A
- Gene:
- PDE2A (Varview), MIR139 (Varview), LOC105369377 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,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: