Links from Gene
Items: 1 to 20 of 837
1.
rs1490967343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:9368491
(GRCh38)
4:9370217
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368490:G:C
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00163/20
(
ALFA)
C=0.00017/8
(GnomAD_exomes)
C=0.00054/6
(TOMMO)
C=0.00606/14
(KOREAN)
- HGVS:
2.
rs1490856876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:9369265
(GRCh38)
4:9370991
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369264:C:A,NC_000004.12:9369264:C:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1489427674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:9369273
(GRCh38)
4:9370999
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369272:T:A
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1488888316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:9369384
(GRCh38)
4:9371110
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369383:T:C
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
6.
rs1487865720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 4:9369495
(GRCh38)
4:9371221
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369494:G:C,NC_000004.12:9369494:G:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
7.
rs1487703707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:9368573
(GRCh38)
4:9370299
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368572:C:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00064/1
(
ALFA)
T=0.00002/1
(GnomAD_exomes)
- HGVS:
8.
rs1487052619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 4:9369546
(GRCh38)
4:9371272
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369545:T:C,NC_000004.12:9369545:T:G
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1484623281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 4:9369049
(GRCh38)
4:9370775
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369048:A:G,NC_000004.12:9369048:A:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1483639714 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:9368918
(GRCh38)
4:9370644
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368917:A:G
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000012/2
(GnomAD_exomes)
- HGVS:
12.
rs1483012299 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:9369359
(GRCh38)
4:9371085
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369358:G:A,NC_000004.12:9369358:G:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000034/9
(TOPMED)
T=0.000342/1
(KOREAN)
T=0.000546/1
(Korea1K)
- HGVS:
13.
rs1482882652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:9369053
(GRCh38)
4:9370779
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369052:C:G,NC_000004.12:9369052:C:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000009/2
(GnomAD_exomes)
- HGVS:
14.
rs1482857617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 4:9369488
(GRCh38)
4:9371214
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369487:G:C,NC_000004.12:9369487:G:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
15.
rs1482261030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:9368697
(GRCh38)
4:9370423
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368696:T:C
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
C=0.00003/2
(GnomAD_exomes)
- HGVS:
18.
rs1478645525 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 4:9369391
(GRCh38)
4:9371117
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9369390:G:A,NC_000004.12:9369390:G:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
19.
rs1478505637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 4:9368765
(GRCh38)
4:9370491
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368764:C:A,NC_000004.12:9368764:C:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001041/17
(
ALFA)
A=0.000108/15
(GnomAD)
A=0.001562/10
(1000Genomes)
A=0.005476/16
(KOREAN)
A=0.008422/238
(TOMMO)
C=0.5/1
(SGDP_PRJ)
- HGVS: