Links from Gene
Items: 1 to 20 of 987
1.
rs1491546106 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 7:9634255
(GRCh38)
7:9673885
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9634254:TA:
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000063/7
(GnomAD)
-=0.000425/7
(TOMMO)
- HGVS:
2.
rs1491336552 has merged into rs60893428 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 7:9634266
(GRCh38)
7:9673896
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:9634255:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.287755/76166
(TOPMED)
-=0.302516/1515
(1000Genomes)
-=0.35/14
(GENOME_DK)
- HGVS:
NC_000007.14:g.9634266_9634269del, NC_000007.14:g.9634267_9634269del, NC_000007.14:g.9634268_9634269del, NC_000007.14:g.9634269del, NC_000007.14:g.9634269dup, NC_000007.14:g.9634268_9634269dup, NC_000007.13:g.9673896_9673899del, NC_000007.13:g.9673897_9673899del, NC_000007.13:g.9673898_9673899del, NC_000007.13:g.9673899del, NC_000007.13:g.9673899dup, NC_000007.13:g.9673898_9673899dup
3.
rs1489948875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 7:9632629
(GRCh38)
7:9672259
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9632628:T:A
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 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:
4.
rs1487078048 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 7:9635495
(GRCh38)
7:9675126
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635495::G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00106/148
(GnomAD)
G=0.001093/7
(1000Genomes)
- HGVS:
5.
rs1486945921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:9636083
(GRCh38)
7:9675713
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9636082:T:C,NC_000007.14:9636082:T:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486245053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:9635012
(GRCh38)
7:9674642
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635011:C:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
7.
rs1486007375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:9635763
(GRCh38)
7:9675393
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635762:T:C
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1485013392 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 7:9632902
(GRCh38)
7:9672533
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9632902:A:AA
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
9.
rs1484617040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:9635492
(GRCh38)
7:9675122
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635491:C:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
10.
rs1482915941 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TGT>-
[Show Flanks]
- Chromosome:
- 7:9633267
(GRCh38)
7:9672897
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9633266:TGT:
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000021/3
(GnomAD)
-=0.005556/93
(TOMMO)
-=0.01583/29
(Korea1K)
- HGVS:
11.
rs1481870014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:9633285
(GRCh38)
7:9672915
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9633284:T:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00787/23
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1481769609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 7:9633005
(GRCh38)
7:9672635
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9633004:C:G,NC_000007.14:9633004:C:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1479608482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:9632607
(GRCh38)
7:9672237
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9632606:G:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1479234218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:9632727
(GRCh38)
7:9672357
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9632726:C:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
15.
rs1479106082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:9634261
(GRCh38)
7:9673891
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9634260:A:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000049/13
(TOPMED)
- HGVS:
16.
rs1478715990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 7:9635507
(GRCh38)
7:9675137
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635506:C:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1478123077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:9633845
(GRCh38)
7:9673475
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9633844:A:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000026/7
(TOPMED)
- HGVS:
18.
rs1477329296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 7:9633453
(GRCh38)
7:9673083
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9633452:A:G,NC_000007.14:9633452:A:T
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
19.
rs1475840281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:9635150
(GRCh38)
7:9674780
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9635149:A:G
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1475760042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:9634197
(GRCh38)
7:9673827
(GRCh37)
- Canonical SPDI:
- NC_000007.14:9634196:G:C
- Gene:
- PER3P1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,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: