Links from Gene
Items: 1 to 20 of 3056
1.
rs1490879078 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70407777
(GRCh38)
4:71273494
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70407776:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490844170 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70409019
(GRCh38)
4:71274736
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70409018:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
3.
rs1490700542 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:70400232
(GRCh38)
4:71265949
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70400231:T:C
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000064/17
(TOPMED)
C=0.000684/2
(KOREAN)
C=0.000885/15
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS:
4.
rs1489985658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70400297
(GRCh38)
4:71266014
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70400296:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489415835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:70402367
(GRCh38)
4:71268084
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70402366:T:G
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
6.
rs1489404288 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:70406463
(GRCh38)
4:71272180
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70406462:T:G
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
7.
rs1489374062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:70408848
(GRCh38)
4:71274565
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70408847:G:A
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489314631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70407911
(GRCh38)
4:71273628
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70407910:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
- HGVS:
9.
rs1489291415 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->AG
[Show Flanks]
- Chromosome:
- 4:70406642
(GRCh38)
4:71272360
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70406642::AG
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
AG=0.000021/3
(GnomAD)
- HGVS:
10.
rs1489252666 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATT>-
[Show Flanks]
- Chromosome:
- 4:70405670
(GRCh38)
4:71271387
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70405663:TTAATTAATT:TTAATT
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTAATT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489132132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:70397963
(GRCh38)
4:71263680
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70397962:T:C
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
12.
rs1489088355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:70409682
(GRCh38)
4:71275399
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70409681:G:A
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- synonymous_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000016/4
(GnomAD_exomes)
A=0.000025/3
(ExAC)
A=0.00006/16
(TOPMED)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
- HGVS:
13.
rs1488836883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70397525
(GRCh38)
4:71263242
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70397524:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000015/2
(GnomAD)
- HGVS:
14.
rs1488679714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:70408910
(GRCh38)
4:71274627
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70408909:T:A
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488478459 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70400068
(GRCh38)
4:71265785
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70400067:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
16.
rs1488341920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:70402939
(GRCh38)
4:71268656
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70402938:G:C
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
17.
rs1488310072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:70405647
(GRCh38)
4:71271364
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70405646:C:T
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488254042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 4:70397367
(GRCh38)
4:71263084
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70397366:T:A,NC_000004.12:70397366:T:C
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488115265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 4:70410070
(GRCh38)
4:71275787
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70410069:GG:G
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- frameshift_variant,3_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487968715 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 4:70407024
(GRCh38)
4:71272741
(GRCh37)
- Canonical SPDI:
- NC_000004.12:70407023:CCC:CC
- Gene:
- OPRPN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS: