Links from Gene
Items: 1 to 20 of 1000
2.
rs1491088304 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 11:1951123
(GRCh38)
11:1972353
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1951122:AG:
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0./0
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
3.
rs1491003280 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTCCTCTCCACGGGGTCTGAGCA>-
[Show Flanks]
- Chromosome:
- 11:1976389
(GRCh38)
11:1997619
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1976372:CCACGGGGTCTGAGCATGTCCTCTCCACGGGGTCTGAGCA:CCACGGGGTCTGAGCA
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00054/9
(TOMMO)
- HGVS:
4.
rs1490951573 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:1975174
(GRCh38)
11:1996404
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1975173:G:A
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.00057/1
(Korea1K)
- HGVS:
8.
rs1490777861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 11:1983739
(GRCh38)
11:2004969
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1983738:C:A,NC_000011.10:1983738:C:G
- Gene:
- MRPL23 (Varview), MRPL23-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490631371 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:2012513
(GRCh38)
11:2033743
(GRCh37)
- Canonical SPDI:
- NC_000011.10:2012512:C:T
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.00006/1
(TOMMO)
- HGVS:
16.
rs1490357584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:1971032
(GRCh38)
11:1992262
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1971031:C:T
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
T=0.000019/5
(TOPMED)
T=0.000249/4
(TOMMO)
T=0.004717/1
(Vietnamese)
- HGVS:
17.
rs1490330086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:1981787
(GRCh38)
11:2003017
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1981786:T:C
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
19.
rs1490159759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:1978794
(GRCh38)
11:2000024
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1978793:G:C
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000026/2
(GnomAD)
C=0.000045/12
(TOPMED)
- HGVS:
20.
rs1490092167 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:1971355
(GRCh38)
11:1992585
(GRCh37)
- Canonical SPDI:
- NC_000011.10:1971354:C:G,NC_000011.10:1971354:C:T
- Gene:
- MRPL23 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: