Links from Gene
Items: 1 to 20 of 1000
1.
rs1491415255 has merged into rs1002543941 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 2:95114131
(GRCh38)
2:95779876
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:95114120:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.95114131_95114144del, NC_000002.12:g.95114132_95114144del, NC_000002.12:g.95114133_95114144del, NC_000002.12:g.95114134_95114144del, NC_000002.12:g.95114135_95114144del, NC_000002.12:g.95114136_95114144del, NC_000002.12:g.95114137_95114144del, NC_000002.12:g.95114138_95114144del, NC_000002.12:g.95114140_95114144del, NC_000002.12:g.95114141_95114144del, NC_000002.12:g.95114142_95114144del, NC_000002.12:g.95114143_95114144del, NC_000002.12:g.95114144del, NC_000002.12:g.95114144dup, NC_000002.12:g.95114143_95114144dup, NC_000002.12:g.95114142_95114144dup, NC_000002.12:g.95114141_95114144dup, NC_000002.12:g.95114130_95114144dup, NC_000002.11:g.95779876_95779889del, NC_000002.11:g.95779877_95779889del, NC_000002.11:g.95779878_95779889del, NC_000002.11:g.95779879_95779889del, NC_000002.11:g.95779880_95779889del, NC_000002.11:g.95779881_95779889del, NC_000002.11:g.95779882_95779889del, NC_000002.11:g.95779883_95779889del, NC_000002.11:g.95779885_95779889del, NC_000002.11:g.95779886_95779889del, NC_000002.11:g.95779887_95779889del, NC_000002.11:g.95779888_95779889del, NC_000002.11:g.95779889del, NC_000002.11:g.95779889dup, NC_000002.11:g.95779888_95779889dup, NC_000002.11:g.95779887_95779889dup, NC_000002.11:g.95779886_95779889dup, NC_000002.11:g.95779875_95779889dup
3.
rs1491282320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 2:95120075
(GRCh38)
2:95785820
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95120071:ACACA:ACA
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACA=0.000427/6
(
ALFA)
-=0.000135/19
(GnomAD)
-=0.000174/46
(TOPMED)
- HGVS:
4.
rs1491272337 has merged into rs772096630 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 2:95098935
(GRCh38)
2:95764680
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:95098921:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTT=0./0
(
ALFA)
T=0.04882/29
(NorthernSweden)
- HGVS:
NC_000002.12:g.95098935_95098937del, NC_000002.12:g.95098936_95098937del, NC_000002.12:g.95098937del, NC_000002.12:g.95098937dup, NC_000002.12:g.95098936_95098937dup, NC_000002.12:g.95098935_95098937dup, NC_000002.12:g.95098934_95098937dup, NC_000002.11:g.95764680_95764682del, NC_000002.11:g.95764681_95764682del, NC_000002.11:g.95764682del, NC_000002.11:g.95764682dup, NC_000002.11:g.95764681_95764682dup, NC_000002.11:g.95764680_95764682dup, NC_000002.11:g.95764679_95764682dup
5.
rs1491208975 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 2:95120072
(GRCh38)
2:95785818
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95120072:C:CC
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
6.
rs1491207407 has merged into rs368636448 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 2:95099388
(GRCh38)
2:95765133
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95099383:TTTTTTTT:TTTT,NC_000002.12:95099383:TTTTTTTT:TTTTT,NC_000002.12:95099383:TTTTTTTT:TTTTTTT,NC_000002.12:95099383:TTTTTTTT:TTTTTTTTT
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTT=0./0
(
ALFA)
-=0.004/20
(1000Genomes)
- HGVS:
9.
rs1490958171 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:95094005
(GRCh38)
2:95759750
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95094004:G:A
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490808075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:95116878
(GRCh38)
2:95782623
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95116877:T:C,NC_000002.12:95116877:T:G
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490657455 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:95112779
(GRCh38)
2:95778524
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95112778:C:G,NC_000002.12:95112778:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000857/14
(
ALFA)
T=0.000079/11
(GnomAD)
T=0.000312/2
(1000Genomes)
T=0.000672/19
(TOMMO)
T=0.002679/12
(Estonian)
- HGVS:
13.
rs1490612193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:95084945
(GRCh38)
2:95750690
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95084944:T:C
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490500315 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95108139
(GRCh38)
2:95773884
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95108138:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490468628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95093291
(GRCh38)
2:95759036
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95093290:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490456745 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:95095004
(GRCh38)
2:95760749
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95095003:A:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490207863 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 2:95088068
(GRCh38)
2:95753813
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95088067:A:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490196779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95088957
(GRCh38)
2:95754702
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95088956:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00034/1
(KOREAN)
- HGVS:
19.
rs1490165295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95090585
(GRCh38)
2:95756330
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95090584:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
20.
rs1490120095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:95095369
(GRCh38)
2:95761114
(GRCh37)
- Canonical SPDI:
- NC_000002.12:95095368:C:T
- Gene:
- MRPS5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: