Links from Gene
Items: 1 to 20 of 1720
1.
rs1491512018 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 9:62836208
(GRCh38)
9:66492032
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62836207:AAAAAAA:AAAAAA,NC_000009.12:62836207:AAAAAAA:AAAAAAAA
- Gene:
- LOC100132249 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000036/5
(GnomAD)
-=0.000156/1
(1000Genomes)
- HGVS:
3.
rs1490830485 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:62835621
(GRCh38)
9:66491445
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62835620:A:C
- Gene:
- LOC100132249 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000084/1
(
ALFA)
C=0.000114/16
(GnomAD)
C=0.000625/4
(1000Genomes)
- HGVS:
5.
rs1490086465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:62838160
(GRCh38)
9:66493984
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62838159:C:A
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00843/100
(
ALFA)
A=0.03825/1081
(TOMMO)
A=0.14897/435
(KOREAN)
- HGVS:
6.
rs1489508844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:62838315
(GRCh38)
9:66494140
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62838315:G:GG
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.000207/29
(GnomAD)
- HGVS:
7.
rs1488941653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:62836719
(GRCh38)
9:66492543
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62836718:T:A
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488892775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:62837502
(GRCh38)
9:66493326
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62837501:C:G
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (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=0.000043/6
(GnomAD)
G=0.000071/1
(TOMMO)
- HGVS:
9.
rs1488542786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 9:62837248
(GRCh38)
9:66493072
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62837247:T:A,NC_000009.12:62837247:T:C
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00109/7
(1000Genomes)
A=0.00318/53
(TOMMO)
A=0.00491/9
(Korea1K)
A=0.00719/21
(KOREAN)
T=0.5/1
(SGDP_PRJ)
- HGVS:
12.
rs1488049487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:62839799
(GRCh38)
9:66495623
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62839798:G:A
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_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:
13.
rs1487866187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:62837454
(GRCh38)
9:66493278
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62837453:G:A,NC_000009.12:62837453:G:C
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.002951/35
(
ALFA)
C=0.002046/283
(GnomAD)
C=0.015642/262
(TOMMO)
C=0.026694/78
(KOREAN)
C=0.030568/56
(Korea1K)
G=0.5/6
(SGDP_PRJ)
- HGVS:
14.
rs1487834274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:62837656
(GRCh38)
9:66493480
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62837655:C:T
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487453527 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:62837990
(GRCh38)
9:66493814
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62837989:G:A,NC_000009.12:62837989:G:C
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00008/1
(
ALFA)
C=0.00014/2
(TOMMO)
- HGVS:
17.
rs1487205232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 9:62835003
(GRCh38)
9:66490827
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62835002:A:C,NC_000009.12:62835002:A:T
- Gene:
- LOC100132249 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.05099/149
(KOREAN)
C=0.15801/4465
(TOMMO)
- HGVS:
19.
rs1486546104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:62835788
(GRCh38)
9:66491612
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62835787:T:C
- Gene:
- LOC100132249 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000057/8
(GnomAD)
- HGVS:
20.
rs1484985613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 9:62838426
(GRCh38)
9:66494250
(GRCh37)
- Canonical SPDI:
- NC_000009.12:62838424:CTC:C
- Gene:
- PTGER4P2-CDK2AP2P2 (Varview), LOC100132249 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.09568/1135
(
ALFA)
-=0.10021/1675
(TOMMO)
- HGVS: