Links from Nucleotide
Items: 1 to 20 of 384
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:
3.
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:
5.
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:
6.
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:
7.
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:
8.
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:
11.
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:
12.
rs1476537597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:9368164
(GRCh38)
4:9369890
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368163:C:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.0001/1
(GnomAD_exomes)
- HGVS:
17.
rs1470400010 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 4:9368711
(GRCh38)
4:9370437
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368710:T:G
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00016/1
(1000Genomes)
- HGVS:
19.
rs1465193104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 4:9368424
(GRCh38)
4:9370150
(GRCh37)
- Canonical SPDI:
- NC_000004.12:9368423:A:T
- Gene:
- USP17L6P (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.00007/3
(GnomAD_exomes)
- HGVS: