Links from Nucleotide
Items: 1 to 20 of 449
3.
rs1490997495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 22:24003774
(GRCh38)
22:24400220
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24003773:A:G
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000022.11:g.24003774A>G, NT_187633.1:g.294395A>G, NC_000022.10:g.24400220A>G, NR_003081.3:n.283T>C, NR_003081.2:n.191T>C, NR_003081.1:n.191T>C, XM_024452200.2:c.168T>C, XM_024452200.1:c.168T>C, NM_001358664.2:c.186T>C, NM_001358664.1:c.186T>C, XM_024452199.2:c.198T>C, XM_024452199.1:c.198T>C, XM_024452202.2:c.198T>C, XM_024452202.1:c.198T>C, NM_001040638.1:c.186T>C, NM_015371.1:c.186T>C, NM_001039498.1:c.186T>C, NR_003082.1:n.1347T>C
5.
rs1488888011 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 22:24004334
(GRCh38)
22:24400780
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004333:G:A,NC_000022.11:24004333:G:C,NC_000022.11:24004333:G:T
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
- HGVS:
NC_000022.11:g.24004334G>A, NC_000022.11:g.24004334G>C, NC_000022.11:g.24004334G>T, NT_187633.1:g.294955G>A, NT_187633.1:g.294955G>C, NT_187633.1:g.294955G>T, NC_000022.10:g.24400780G>A, NC_000022.10:g.24400780G>C, NC_000022.10:g.24400780G>T, NR_003082.1:n.1120C>T, NR_003082.1:n.1120C>G, NR_003082.1:n.1120C>A
6.
rs1488237200 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 22:24004919
(GRCh38)
22:24401365
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004918:C:G
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000026/7
(TOPMED)
G=0.000106/2
(TOMMO)
G=0.000342/1
(KOREAN)
- HGVS:
7.
rs1487250360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:24004640
(GRCh38)
22:24401086
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004639:G:A
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485591142 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 22:24004330
(GRCh38)
22:24400776
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004329:GGGGG:GGGG,NC_000022.11:24004329:GGGGG:GGGGGG
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
9.
rs1481462097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:24003816
(GRCh38)
22:24400262
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24003815:G:A
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.24003816G>A, NT_187633.1:g.294437G>A, NC_000022.10:g.24400262G>A, NR_003081.3:n.241C>T, NR_003081.2:n.149C>T, NR_003081.1:n.149C>T, XM_024452200.2:c.126C>T, XM_024452200.1:c.126C>T, NM_001358664.2:c.144C>T, NM_001358664.1:c.144C>T, XM_024452199.2:c.156C>T, XM_024452199.1:c.156C>T, XM_024452202.2:c.156C>T, XM_024452202.1:c.156C>T, NM_001040638.1:c.144C>T, NM_015371.1:c.144C>T, NM_001039498.1:c.144C>T, NR_003082.1:n.1305C>T
11.
rs1477587227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 22:24005433
(GRCh38)
22:24401879
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24005432:G:A
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000043/6
(GnomAD)
- HGVS:
NC_000022.11:g.24005433G>A, NT_187633.1:g.296054G>A, NC_000022.10:g.24401879G>A, NR_003081.3:n.21C>T, XM_024452200.2:c.-237C>T, XM_024452200.1:c.-237C>T, NM_001358664.2:c.-77C>T, XM_024452199.2:c.-65C>T, XM_024452199.1:c.-65C>T, XM_024452202.2:c.-65C>T, XM_024452202.1:c.-65C>T, NR_003082.1:n.21C>T
12.
rs1476834688 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 22:24004702
(GRCh38)
22:24401148
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004700:TGT:T
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000023/6
(TOPMED)
- HGVS:
13.
rs1476186950 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 22:24005298
(GRCh38)
22:24401744
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24005297:AA:A
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,frameshift_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AA=0.000071/1
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
NC_000022.11:g.24005299del, NT_187633.1:g.295920del, NC_000022.10:g.24401745del, NR_003081.3:n.156del, NR_003081.2:n.64del, NR_003081.1:n.64del, XM_024452200.2:c.-102del, XM_024452200.1:c.-102del, NM_001358664.2:c.59del, NM_001358664.1:c.59del, XM_024452199.2:c.71del, XM_024452199.1:c.71del, XM_024452202.2:c.71del, XM_024452202.1:c.71del, NM_001040638.1:c.59del, NM_015371.1:c.59del, NM_001039498.1:c.59del, NR_003082.1:n.156del, NP_001345593.1:p.Phe20fs, XP_024307967.1:p.Phe24fs, XP_024307970.1:p.Phe24fs
15.
rs1473552927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 22:24004696
(GRCh38)
22:24401142
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004695:G:T
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1472113386 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 22:24004997
(GRCh38)
22:24401443
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004996:CT:
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
18.
rs1469057363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 22:24005443
(GRCh38)
22:24401889
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24005442:C:T
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000022.11:g.24005443C>T, NT_187633.1:g.296064C>T, NC_000022.10:g.24401889C>T, NR_003081.3:n.11G>A, XM_024452200.2:c.-247G>A, XM_024452200.1:c.-247G>A, NM_001358664.2:c.-87G>A, XM_024452199.2:c.-75G>A, XM_024452199.1:c.-75G>A, XM_024452202.2:c.-75G>A, XM_024452202.1:c.-75G>A, NR_003082.1:n.11G>A
19.
rs1468917385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 22:24004193
(GRCh38)
22:24400639
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24004192:G:A,NC_000022.11:24004192:G:C
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000022.11:g.24004193G>A, NC_000022.11:g.24004193G>C, NT_187633.1:g.294814G>A, NT_187633.1:g.294814G>C, NC_000022.10:g.24400639G>A, NC_000022.10:g.24400639G>C, XM_024452200.2:c.82C>T, XM_024452200.2:c.82C>G, XM_024452200.1:c.82C>T, XM_024452200.1:c.82C>G, NR_003082.1:n.1261C>T, NR_003082.1:n.1261C>G, XP_024307968.1:p.Leu28Phe, XP_024307968.1:p.Leu28Val
20.
rs1466372515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 22:24003809
(GRCh38)
22:24400255
(GRCh37)
- Canonical SPDI:
- NC_000022.11:24003808:G:C
- Gene:
- GSTT4 (Varview), LOC105372959 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000022.11:g.24003809G>C, NT_187633.1:g.294430G>C, NC_000022.10:g.24400255G>C, NR_003081.3:n.248C>G, NR_003081.2:n.156C>G, NR_003081.1:n.156C>G, XM_024452200.2:c.133C>G, XM_024452200.1:c.133C>G, NM_001358664.2:c.151C>G, NM_001358664.1:c.151C>G, XM_024452199.2:c.163C>G, XM_024452199.1:c.163C>G, XM_024452202.2:c.163C>G, XM_024452202.1:c.163C>G, NM_001040638.1:c.151C>G, NM_015371.1:c.151C>G, NM_001039498.1:c.151C>G, NR_003082.1:n.1312C>G, XP_024307968.1:p.Leu45Val, NP_001345593.1:p.Leu51Val, XP_024307967.1:p.Leu55Val, XP_024307970.1:p.Leu55Val