Links from Nucleotide
Items: 1 to 20 of 362
1.
rs1486390272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:119234111
(GRCh38)
1:119776734
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119234110:G:A
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
2.
rs1486334249 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:119140741
(GRCh38)
1:119683364
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140740:C:G,NC_000001.11:119140740:C:T
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
G=0.000546/1
(Korea1K)
- HGVS:
NC_000001.11:g.119140741C>G, NC_000001.11:g.119140741C>T, NC_000001.10:g.119683364C>G, NC_000001.10:g.119683364C>T, NG_050658.1:g.5048G>C, NG_050658.1:g.5048G>A, NR_125974.1:n.346C>G, NR_125974.1:n.346C>T, NR_125975.1:n.346C>G, NR_125975.1:n.346C>T, NR_125976.1:n.346C>G, NR_125976.1:n.346C>T, NR_125977.1:n.346C>G, NR_125977.1:n.346C>T
3.
rs1477477432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:119140445
(GRCh38)
1:119683068
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140444:G:A
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.119140445G>A, NC_000001.10:g.119683068G>A, NG_050658.1:g.5344C>T, NM_001378227.1:c.-242C>T, NM_001378230.1:c.-370C>T, XM_024449826.2:c.-242C>T, XM_024449826.1:c.-242C>T, XM_024449860.2:c.-370C>T, XM_024449860.1:c.-370C>T, NR_125974.1:n.50G>A, NR_125975.1:n.50G>A, NR_125976.1:n.50G>A, NR_125977.1:n.50G>A
4.
rs1477460349 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:119150746
(GRCh38)
1:119693369
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119150745:C:T
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000036/5
(GnomAD)
T=0.000156/1
(1000Genomes)
- HGVS:
6.
rs1470538273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:119140563
(GRCh38)
1:119683186
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140562:C:A,NC_000001.11:119140562:C:T
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00004/1
(TOMMO)
- HGVS:
NC_000001.11:g.119140563C>A, NC_000001.11:g.119140563C>T, NC_000001.10:g.119683186C>A, NC_000001.10:g.119683186C>T, NG_050658.1:g.5226G>T, NG_050658.1:g.5226G>A, NM_015836.4:c.82G>T, NM_015836.4:c.82G>A, NM_015836.3:c.82G>T, NM_015836.3:c.82G>A, NM_201263.2:c.82G>T, NM_201263.2:c.82G>A, NM_001378227.1:c.-264G>T, NM_001378227.1:c.-264G>A, NM_001378230.1:c.-392G>T, NM_001378230.1:c.-392G>A, NM_001378226.1:c.-73G>T, NM_001378226.1:c.-73G>A, NM_001378231.1:c.82G>T, NM_001378231.1:c.82G>A, NM_001378228.1:c.82G>T, NM_001378228.1:c.82G>A, NM_001378229.1:c.82G>T, NM_001378229.1:c.82G>A, XM_024449826.2:c.-360G>T, XM_024449826.2:c.-360G>A, XM_024449826.1:c.-360G>T, XM_024449826.1:c.-360G>A, XM_024449860.2:c.-488G>T, XM_024449860.2:c.-488G>A, XM_024449860.1:c.-488G>T, XM_024449860.1:c.-488G>A, XM_017000038.2:c.82G>T, XM_017000038.2:c.82G>A, XM_017000038.1:c.82G>T, XM_017000038.1:c.82G>A, XM_047429105.1:c.82G>T, XM_047429105.1:c.82G>A, NR_125974.1:n.168C>A, NR_125974.1:n.168C>T, NR_125975.1:n.168C>A, NR_125975.1:n.168C>T, NR_125976.1:n.168C>A, NR_125976.1:n.168C>T, NR_125977.1:n.168C>A, NR_125977.1:n.168C>T, NP_056651.1:p.Ala28Ser, NP_056651.1:p.Ala28Thr, NP_957715.1:p.Ala28Ser, NP_957715.1:p.Ala28Thr, NP_001365160.1:p.Ala28Ser, NP_001365160.1:p.Ala28Thr, NP_001365157.1:p.Ala28Ser, NP_001365157.1:p.Ala28Thr, NP_001365158.1:p.Ala28Ser, NP_001365158.1:p.Ala28Thr, XP_016855527.1:p.Ala28Ser, XP_016855527.1:p.Ala28Thr, XP_047285061.1:p.Ala28Ser, XP_047285061.1:p.Ala28Thr
7.
rs1468506930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:119140543
(GRCh38)
1:119683166
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140542:G:C
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.119140543G>C, NC_000001.10:g.119683166G>C, NG_050658.1:g.5246C>G, XM_024449826.2:c.-340C>G, XM_024449826.1:c.-340C>G, XM_024449860.2:c.-468C>G, XM_024449860.1:c.-468C>G, NR_125974.1:n.148G>C, NR_125975.1:n.148G>C, NR_125976.1:n.148G>C, NR_125977.1:n.148G>C
8.
rs1467336986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119150725
(GRCh38)
1:119693348
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119150724:A:G
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
9.
rs1461683575 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 1:119233819
(GRCh38)
1:119776442
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119233818:T:
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1459027346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119141753
(GRCh38)
1:119684376
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119141752:A:G
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1452510801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:119233968
(GRCh38)
1:119776591
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119233967:T:C
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1450956069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:119140649
(GRCh38)
1:119683272
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140648:A:G
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.119140649A>G, NC_000001.10:g.119683272A>G, NG_050658.1:g.5140T>C, NM_015836.4:c.-5T>C, NM_015836.3:c.-5T>C, NM_201263.2:c.-5T>C, NM_001378227.1:c.-350T>C, NM_001378230.1:c.-478T>C, NM_001378226.1:c.-159T>C, NM_001378231.1:c.-5T>C, NM_001378228.1:c.-5T>C, NM_001378229.1:c.-5T>C, XM_024449826.2:c.-446T>C, XM_024449826.1:c.-446T>C, XM_024449860.2:c.-574T>C, XM_024449860.1:c.-574T>C, XM_017000038.2:c.-5T>C, XM_017000038.1:c.-5T>C, XM_047429105.1:c.-5T>C, NR_125974.1:n.254A>G, NR_125975.1:n.254A>G, NR_125976.1:n.254A>G, NR_125977.1:n.254A>G
15.
rs1435834189 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:119233537
(GRCh38)
1:119776160
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119233536:G:A
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_downstream_transcript_variant,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:
17.
rs1432626514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:119140549
(GRCh38)
1:119683172
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140548:G:A
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.119140549G>A, NC_000001.10:g.119683172G>A, NG_050658.1:g.5240C>T, XM_024449826.2:c.-346C>T, XM_024449826.1:c.-346C>T, XM_024449860.2:c.-474C>T, XM_024449860.1:c.-474C>T, NR_125974.1:n.154G>A, NR_125975.1:n.154G>A, NR_125976.1:n.154G>A, NR_125977.1:n.154G>A
18.
rs1429312840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:119140771
(GRCh38)
1:119683394
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119140770:G:A,NC_000001.11:119140770:G:T
- Gene:
- WARS2 (Varview), WARS2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.119140771G>A, NC_000001.11:g.119140771G>T, NC_000001.10:g.119683394G>A, NC_000001.10:g.119683394G>T, NG_050658.1:g.5018C>T, NG_050658.1:g.5018C>A, NR_125974.1:n.376G>A, NR_125974.1:n.376G>T, NR_125975.1:n.376G>A, NR_125975.1:n.376G>T, NR_125976.1:n.376G>A, NR_125976.1:n.376G>T, NR_125977.1:n.376G>A, NR_125977.1:n.376G>T
19.
rs1420257897 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:119233712
(GRCh38)
1:119776335
(GRCh37)
- Canonical SPDI:
- NC_000001.11:119233711:AAAAA:AAAA
- Gene:
- WARS2-AS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: