Links from Gene
Items: 1 to 20 of 2559
1.
rs1490957861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36462806
(GRCh38)
1:36928407
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36462805:T:C
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000079/21
(TOPMED)
- HGVS:
2.
rs1490940923 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:36461663
(GRCh38)
1:36927264
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36461662:G:A,NC_000001.11:36461662:G:T
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490139452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:36463241
(GRCh38)
1:36928842
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36463240:A:T
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
5.
rs1489261953 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36458319
(GRCh38)
1:36923920
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36458318:C:T
- Gene:
- MRPS15 (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:
6.
rs1489140457 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:36462451
(GRCh38)
1:36928052
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36462450:C:A
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000026/7
(TOPMED)
A=0.000156/1
(1000Genomes)
A=0.000342/1
(KOREAN)
A=0.000425/7
(TOMMO)
- HGVS:
7.
rs1488591252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:36463907
(GRCh38)
1:36929508
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36463906:C:G
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
8.
rs1488560647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:36464533
(GRCh38)
1:36930134
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36464532:C:G
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488519587 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:36463997
(GRCh38)
1:36929598
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36463996:T:C
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487728637 has merged into rs60005613 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:36457286
(GRCh38)
1:36922887
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:36457275:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.09081/350
(ALSPAC)
-=0.20569/123
(NorthernSweden)
-=0.325/13
(GENOME_DK)
- HGVS:
NC_000001.11:g.36457286_36457291del, NC_000001.11:g.36457287_36457291del, NC_000001.11:g.36457288_36457291del, NC_000001.11:g.36457289_36457291del, NC_000001.11:g.36457290_36457291del, NC_000001.11:g.36457291del, NC_000001.11:g.36457291dup, NC_000001.11:g.36457290_36457291dup, NC_000001.11:g.36457289_36457291dup, NC_000001.10:g.36922887_36922892del, NC_000001.10:g.36922888_36922892del, NC_000001.10:g.36922889_36922892del, NC_000001.10:g.36922890_36922892del, NC_000001.10:g.36922891_36922892del, NC_000001.10:g.36922892del, NC_000001.10:g.36922892dup, NC_000001.10:g.36922891_36922892dup, NC_000001.10:g.36922890_36922892dup
12.
rs1487427398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 1:36458351
(GRCh38)
1:36923952
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36458350:C:G
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487403609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36457609
(GRCh38)
1:36923210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36457608:A:G
- Gene:
- MRPS15 (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:
14.
rs1487202032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36463065
(GRCh38)
1:36928666
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36463064:C:T
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000035/1
(TOMMO)
T=0.000684/2
(KOREAN)
C=0.5/1
(SGDP_PRJ)
- HGVS:
15.
rs1486670530 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGG>-
[Show Flanks]
- Chromosome:
- 1:36465960
(GRCh38)
1:36931561
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36465952:AGGAAGGAAGG:AGGAAGG
- Gene:
- CSF3R (Varview), MRPS15 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AGGAAGG=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
- HGVS:
17.
rs1486593464 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36465660
(GRCh38)
1:36931261
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36465659:C:T
- Gene:
- CSF3R (Varview), MRPS15 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1486520626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:36459609
(GRCh38)
1:36925210
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36459608:C:T
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485759247 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36458223
(GRCh38)
1:36923824
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36458222:A:G
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1485682946 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:36462589
(GRCh38)
1:36928190
(GRCh37)
- Canonical SPDI:
- NC_000001.11:36462588:A:G
- Gene:
- MRPS15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: