Links from Nucleotide
Items: 1 to 20 of 4542
1.
rs1491570583 has merged into rs60947210 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 3:49107134
(GRCh38)
3:49144567
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:49107124:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.425/17
(GENOME_DK)
- HGVS:
NC_000003.12:g.49107134_49107146del, NC_000003.12:g.49107136_49107146del, NC_000003.12:g.49107139_49107146del, NC_000003.12:g.49107141_49107146del, NC_000003.12:g.49107142_49107146del, NC_000003.12:g.49107143_49107146del, NC_000003.12:g.49107144_49107146del, NC_000003.12:g.49107145_49107146del, NC_000003.12:g.49107146del, NC_000003.12:g.49107146dup, NC_000003.12:g.49107145_49107146dup, NC_000003.12:g.49107144_49107146dup, NC_000003.12:g.49107143_49107146dup, NC_000003.12:g.49107142_49107146dup, NC_000003.11:g.49144567_49144579del, NC_000003.11:g.49144569_49144579del, NC_000003.11:g.49144572_49144579del, NC_000003.11:g.49144574_49144579del, NC_000003.11:g.49144575_49144579del, NC_000003.11:g.49144576_49144579del, NC_000003.11:g.49144577_49144579del, NC_000003.11:g.49144578_49144579del, NC_000003.11:g.49144579del, NC_000003.11:g.49144579dup, NC_000003.11:g.49144578_49144579dup, NC_000003.11:g.49144577_49144579dup, NC_000003.11:g.49144576_49144579dup, NC_000003.11:g.49144575_49144579dup, NG_054716.1:g.18802_18814del, NG_054716.1:g.18804_18814del, NG_054716.1:g.18807_18814del, NG_054716.1:g.18809_18814del, NG_054716.1:g.18810_18814del, NG_054716.1:g.18811_18814del, NG_054716.1:g.18812_18814del, NG_054716.1:g.18813_18814del, NG_054716.1:g.18814del, NG_054716.1:g.18814dup, NG_054716.1:g.18813_18814dup, NG_054716.1:g.18812_18814dup, NG_054716.1:g.18811_18814dup, NG_054716.1:g.18810_18814dup, NG_042312.1:g.2993_3005del, NG_042312.1:g.2995_3005del, NG_042312.1:g.2998_3005del, NG_042312.1:g.3000_3005del, NG_042312.1:g.3001_3005del, NG_042312.1:g.3002_3005del, NG_042312.1:g.3003_3005del, NG_042312.1:g.3004_3005del, NG_042312.1:g.3005del, NG_042312.1:g.3005dup, NG_042312.1:g.3004_3005dup, NG_042312.1:g.3003_3005dup, NG_042312.1:g.3002_3005dup, NG_042312.1:g.3001_3005dup
2.
rs1491260537 has merged into rs397690702 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:49095581
(GRCh38)
3:49133014
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:49095569:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- QARS1 (Varview), QRICH1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.4874/2441
(1000Genomes)
- HGVS:
NC_000003.12:g.49095581_49095587del, NC_000003.12:g.49095582_49095587del, NC_000003.12:g.49095583_49095587del, NC_000003.12:g.49095585_49095587del, NC_000003.12:g.49095586_49095587del, NC_000003.12:g.49095587del, NC_000003.12:g.49095587dup, NC_000003.12:g.49095586_49095587dup, NC_000003.12:g.49095585_49095587dup, NC_000003.12:g.49095584_49095587dup, NC_000003.11:g.49133014_49133020del, NC_000003.11:g.49133015_49133020del, NC_000003.11:g.49133016_49133020del, NC_000003.11:g.49133018_49133020del, NC_000003.11:g.49133019_49133020del, NC_000003.11:g.49133020del, NC_000003.11:g.49133020dup, NC_000003.11:g.49133019_49133020dup, NC_000003.11:g.49133018_49133020dup, NC_000003.11:g.49133017_49133020dup, NG_042312.1:g.14554_14560del, NG_042312.1:g.14555_14560del, NG_042312.1:g.14556_14560del, NG_042312.1:g.14558_14560del, NG_042312.1:g.14559_14560del, NG_042312.1:g.14560del, NG_042312.1:g.14560dup, NG_042312.1:g.14559_14560dup, NG_042312.1:g.14558_14560dup, NG_042312.1:g.14557_14560dup
3.
rs1490692580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGTA>-
[Show Flanks]
- Chromosome:
- 3:49094792
(GRCh38)
3:49132225
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49094789:TAGAGTA:TA
- Gene:
- QRICH1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TA=0.000054/1
(
ALFA)
-=0.000026/7
(TOPMED)
-=0.000036/5
(GnomAD)
-=0.000156/1
(1000Genomes)
-=0.000223/1
(Estonian)
- HGVS:
4.
rs1490624475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:49105334
(GRCh38)
3:49142767
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49105333:G:A,NC_000003.12:49105333:G:T
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490441529 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:49101675
(GRCh38)
3:49139108
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49101674:A:G
- Gene:
- QARS1 (Varview), MIR6890 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
NC_000003.12:g.49101675A>G, NC_000003.11:g.49139108A>G, NG_042312.1:g.8455T>C, NM_005051.3:c.734T>C, NM_005051.2:c.734T>C, NM_001272073.2:c.701T>C, NM_001272073.1:c.701T>C, NR_073590.2:n.709T>C, NR_073590.1:n.1081T>C, XM_017006965.3:c.734T>C, XM_017006965.2:c.734T>C, XM_017006965.1:c.788T>C, NP_005042.1:p.Val245Ala, NP_001259002.1:p.Val234Ala, XP_016862454.2:p.Val245Ala
6.
rs1490435483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:49096969
(GRCh38)
3:49134402
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49096968:G:A
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000343/1
(KOREAN)
A=0.000546/1
(Korea1K)
A=0.000951/16
(TOMMO)
- HGVS:
7.
rs1490276086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:49104046
(GRCh38)
3:49141479
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49104045:A:C,NC_000003.12:49104045:A:G
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
- HGVS:
8.
rs1490273657 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:49101486
(GRCh38)
3:49138919
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49101485:G:T
- Gene:
- QARS1 (Varview), MIR6890 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1490263224 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:49095658
(GRCh38)
3:49133091
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49095657:C:A
- Gene:
- QARS1 (Varview), QRICH1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490106492 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:49097414
(GRCh38)
3:49134847
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49097413:A:C,NC_000003.12:49097413:A:G
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0049/9
(Korea1K)
- HGVS:
11.
rs1489486713 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 3:49106237
(GRCh38)
3:49143670
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49106236:C:A,NC_000003.12:49106236:C:G,NC_000003.12:49106236:C:T
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.49106237C>A, NC_000003.12:g.49106237C>G, NC_000003.12:g.49106237C>T, NC_000003.11:g.49143670C>A, NC_000003.11:g.49143670C>G, NC_000003.11:g.49143670C>T, NG_054716.1:g.19702G>T, NG_054716.1:g.19702G>C, NG_054716.1:g.19702G>A, NG_042312.1:g.3893G>T, NG_042312.1:g.3893G>C, NG_042312.1:g.3893G>A
12.
rs1489351580 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 3:49096728
(GRCh38)
3:49134161
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49096727:A:C,NC_000003.12:49096727:A:G
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
G=0.000008/1
(GnomAD)
- HGVS:
13.
rs1489333644 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:49097988
(GRCh38)
3:49135421
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49097987:G:C
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
14.
rs1489328809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 3:49098832
(GRCh38)
3:49136265
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49098831:G:A,NC_000003.12:49098831:G:T
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489180749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:49103495
(GRCh38)
3:49140928
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49103494:A:G
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488751297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TCCC
[Show Flanks]
- Chromosome:
- 3:49098833
(GRCh38)
3:49136267
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49098833:TCCC:TCCCTCCC
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCCCTCCC=0./0
(
ALFA)
TCCC=0.000011/3
(TOPMED)
TCCC=0.000021/3
(GnomAD)
- HGVS:
18.
rs1488542279 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:49097973
(GRCh38)
3:49135406
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49097972:G:C
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000023/6
(TOPMED)
- HGVS:
19.
rs1488361346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 3:49100166
(GRCh38)
3:49137599
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49100165:C:G,NC_000003.12:49100165:C:T
- Gene:
- QARS1 (Varview), MIR6890 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488326489 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:49096724
(GRCh38)
3:49134157
(GRCh37)
- Canonical SPDI:
- NC_000003.12:49096723:C:T
- Gene:
- QARS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000031/4
(GnomAD)
- HGVS: