Links from Gene
Items: 1 to 20 of 1587
1.
rs1489330176 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:139742957
(GRCh38)
5:139122542
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139742956:T:C
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
2.
rs1488876322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:139746072
(GRCh38)
5:139125657
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139746071:C:T
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
3.
rs1488545576 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:139742415
(GRCh38)
5:139122000
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139742414:G:A
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
4.
rs1487405517 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:139744862
(GRCh38)
5:139124447
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139744861:C:T
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
5.
rs1487187854 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 5:139747594
(GRCh38)
5:139127180
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139747594:GGG:GGGG
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGG=0./0
(
ALFA)
G=0.00007/2
(TOMMO)
- HGVS:
6.
rs1487115987 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CCGCCAA>-
[Show Flanks]
- Chromosome:
- 5:139747719
(GRCh38)
5:139127304
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139747718:CCGCCAA:
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
7.
rs1486626830 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 5:139746933
(GRCh38)
5:139126518
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139746932:G:A,NC_000005.10:139746932:G:C,NC_000005.10:139746932:G:T
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00328/6
(Korea1K)
- HGVS:
8.
rs1486210657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:139741458
(GRCh38)
5:139121043
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139741457:T:C
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486154617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:139744948
(GRCh38)
5:139124533
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139744947:A:G
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1485619489 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 5:139743590
(GRCh38)
5:139123175
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139743589:AT:
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
11.
rs1485228041 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:139741948
(GRCh38)
5:139121533
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139741947:T:C
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1483794627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:139743684
(GRCh38)
5:139123269
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139743683:A:G
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
15.
rs1483482336 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:139746703
(GRCh38)
5:139126288
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139746702:C:T
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
- HGVS:
16.
rs1483275871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:139743784
(GRCh38)
5:139123369
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139743783:G:A
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
- HGVS:
17.
rs1483272028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:139743099
(GRCh38)
5:139122684
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139743098:C:T
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
18.
rs1483046074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:139748097
(GRCh38)
5:139127682
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139748096:C:G
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1482811647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:139744139
(GRCh38)
5:139123724
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139744138:A:G
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1482291085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:139743565
(GRCh38)
5:139123150
(GRCh37)
- Canonical SPDI:
- NC_000005.10:139743564:A:G
- Gene:
- PSD2 (Varview), PSD2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS: