Links from Gene
Items: 1 to 20 of 1000
1.
rs1491494398 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:87579745
(GRCh38)
6:88289464
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87579745:G:GG
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.00071/12
(TOMMO)
G=0.00112/2
(Korea1K)
- HGVS:
2.
rs1491458274 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 6:87579745
(GRCh38)
6:88289463
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87579744:TG:
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00199/56
(TOMMO)
- HGVS:
3.
rs1491378096 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 6:87540447
(GRCh38)
6:88250166
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87540447::G
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.00001/1
(GnomAD)
- HGVS:
5.
rs1491337214 has merged into rs1554167560 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 6:87513297
(GRCh38)
6:88223015
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATAT,NC_000006.12:87513277:TATATATATATATATATATATATATAT:TATATATATATATATATATATATATATATATATATATATAT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.87513279AT[9], NC_000006.12:g.87513279AT[10], NC_000006.12:g.87513279AT[11], NC_000006.12:g.87513279AT[12], NC_000006.12:g.87513279AT[14], NC_000006.12:g.87513279AT[15], NC_000006.12:g.87513279AT[16], NC_000006.12:g.87513279AT[17], NC_000006.12:g.87513279AT[18], NC_000006.12:g.87513279AT[19], NC_000006.12:g.87513279AT[20], NC_000006.11:g.88222997AT[9], NC_000006.11:g.88222997AT[10], NC_000006.11:g.88222997AT[11], NC_000006.11:g.88222997AT[12], NC_000006.11:g.88222997AT[14], NC_000006.11:g.88222997AT[15], NC_000006.11:g.88222997AT[16], NC_000006.11:g.88222997AT[17], NC_000006.11:g.88222997AT[18], NC_000006.11:g.88222997AT[19], NC_000006.11:g.88222997AT[20], NG_008601.1:g.81715TA[9], NG_008601.1:g.81715TA[10], NG_008601.1:g.81715TA[11], NG_008601.1:g.81715TA[12], NG_008601.1:g.81715TA[14], NG_008601.1:g.81715TA[15], NG_008601.1:g.81715TA[16], NG_008601.1:g.81715TA[17], NG_008601.1:g.81715TA[18], NG_008601.1:g.81715TA[19], NG_008601.1:g.81715TA[20], NG_016207.1:g.45355AT[9], NG_016207.1:g.45355AT[10], NG_016207.1:g.45355AT[11], NG_016207.1:g.45355AT[12], NG_016207.1:g.45355AT[14], NG_016207.1:g.45355AT[15], NG_016207.1:g.45355AT[16], NG_016207.1:g.45355AT[17], NG_016207.1:g.45355AT[18], NG_016207.1:g.45355AT[19], NG_016207.1:g.45355AT[20]
6.
rs1491326962 has merged into rs796269641 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCCCCCC
[Show Flanks]
- Chromosome:
- 6:87578116
(GRCh38)
6:88287834
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000006.12:87578107:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCC
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCC=0./0
(
ALFA)
- HGVS:
NC_000006.12:g.87578116_87578118del, NC_000006.12:g.87578117_87578118del, NC_000006.12:g.87578118del, NC_000006.12:g.87578118dup, NC_000006.12:g.87578117_87578118dup, NC_000006.12:g.87578116_87578118dup, NC_000006.12:g.87578111_87578118dup, NC_000006.11:g.88287834_88287836del, NC_000006.11:g.88287835_88287836del, NC_000006.11:g.88287836del, NC_000006.11:g.88287836dup, NC_000006.11:g.88287835_88287836dup, NC_000006.11:g.88287834_88287836dup, NC_000006.11:g.88287829_88287836dup, NG_008601.1:g.16908_16910del, NG_008601.1:g.16909_16910del, NG_008601.1:g.16910del, NG_008601.1:g.16910dup, NG_008601.1:g.16909_16910dup, NG_008601.1:g.16908_16910dup, NG_008601.1:g.16903_16910dup
7.
rs1491142716 has merged into rs34144204 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 6:87540460
(GRCh38)
6:88250178
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:87540446:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000006.12:g.87540460_87540470del, NC_000006.12:g.87540461_87540470del, NC_000006.12:g.87540463_87540470del, NC_000006.12:g.87540464_87540470del, NC_000006.12:g.87540465_87540470del, NC_000006.12:g.87540467_87540470del, NC_000006.12:g.87540469_87540470del, NC_000006.12:g.87540470del, NC_000006.12:g.87540470dup, NC_000006.12:g.87540469_87540470dup, NC_000006.12:g.87540468_87540470dup, NC_000006.12:g.87540467_87540470dup, NC_000006.12:g.87540466_87540470dup, NC_000006.11:g.88250178_88250188del, NC_000006.11:g.88250179_88250188del, NC_000006.11:g.88250181_88250188del, NC_000006.11:g.88250182_88250188del, NC_000006.11:g.88250183_88250188del, NC_000006.11:g.88250185_88250188del, NC_000006.11:g.88250187_88250188del, NC_000006.11:g.88250188del, NC_000006.11:g.88250188dup, NC_000006.11:g.88250187_88250188dup, NC_000006.11:g.88250186_88250188dup, NC_000006.11:g.88250185_88250188dup, NC_000006.11:g.88250184_88250188dup, NG_008601.1:g.54561_54571del, NG_008601.1:g.54562_54571del, NG_008601.1:g.54564_54571del, NG_008601.1:g.54565_54571del, NG_008601.1:g.54566_54571del, NG_008601.1:g.54568_54571del, NG_008601.1:g.54570_54571del, NG_008601.1:g.54571del, NG_008601.1:g.54571dup, NG_008601.1:g.54570_54571dup, NG_008601.1:g.54569_54571dup, NG_008601.1:g.54568_54571dup, NG_008601.1:g.54567_54571dup
8.
rs1491126051 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 6:87578958
(GRCh38)
6:88288676
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87578957:CA:
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00008/1
(
ALFA)
-=0.00074/7
(TOMMO)
- HGVS:
9.
rs1491069810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 6:87578985
(GRCh38)
6:88288703
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87578983:AGA:A
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
10.
rs1491051840 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:87564515
(GRCh38)
6:88274234
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87564515::C
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000447/2
(
ALFA)
C=0.000036/5
(GnomAD)
C=0.000446/2
(Estonian)
- HGVS:
11.
rs1491021698 has merged into rs61596231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAAA
[Show Flanks]
- Chromosome:
- 6:87519177
(GRCh38)
6:88228895
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87519175:AAA:A,NC_000006.12:87519175:AAA:AAAAA
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00008/1
(
ALFA)
-=0.00004/1
(TOMMO)
- HGVS:
12.
rs1490987628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:87549975
(GRCh38)
6:88259693
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87549974:A:G
- Gene:
- RARS2 (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:
13.
rs1490979501 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 6:87562329
(GRCh38)
6:88272047
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87562328:T:A,NC_000006.12:87562328:T:C
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490971842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:87549046
(GRCh38)
6:88258764
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87549045:T:C
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490901691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:87585491
(GRCh38)
6:88295209
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87585490:G:A,NC_000006.12:87585490:G:C
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
A=0.000312/2
(1000Genomes)
- HGVS:
16.
rs1490900616 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 6:87525403
(GRCh38)
6:88235122
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87525403:C:CC
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000034/9
(TOPMED)
- HGVS:
17.
rs1490877981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:87513556
(GRCh38)
6:88223274
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87513555:A:G
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490847360 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:87572291
(GRCh38)
6:88282009
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87572290:A:C
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
- HGVS:
19.
rs1490793377 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 6:87579451
(GRCh38)
6:88289169
(GRCh37)
- Canonical SPDI:
- NC_000006.12:87579450:A:C,NC_000006.12:87579450:A:G
- Gene:
- RARS2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: