Links from Gene
Items: 1 to 20 of 1000
1.
rs1490868631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65044461
(GRCh38)
15:65336799
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65044460:C:T
- Gene:
- SLC51B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
2.
rs1490796199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:65047691
(GRCh38)
15:65340029
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65047690:T:A
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490729816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 15:65048620
(GRCh38)
15:65340958
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65048619:T:A
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
4.
rs1490631204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65048051
(GRCh38)
15:65340389
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65048050:C:T
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489703560 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65049350
(GRCh38)
15:65341688
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65049349:A:G
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000026/7
(TOPMED)
- HGVS:
7.
rs1489136486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:65049364
(GRCh38)
15:65341702
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65049363:T:C,NC_000015.10:65049363:T:G
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- upstream_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00017/2
(
ALFA)
G=0.00028/8
(TOMMO)
C=0.00109/2
(Korea1K)
G=0.04928/144
(KOREAN)
- HGVS:
8.
rs1489029405 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 15:65050019
(GRCh38)
15:65342357
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65050018:GGGGG:GGGG
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_downstream_transcript_variant,frameshift_variant
- HGVS:
NC_000015.10:g.65050023del, NC_000015.9:g.65342361del, XM_005254159.6:c.19del, XM_005254159.5:c.19del, XM_005254159.4:c.19del, XM_005254159.3:c.19del, XM_005254159.2:c.19del, XM_005254159.1:c.19del, NM_178859.4:c.19del, NM_178859.3:c.19del, XM_017022296.2:c.*1971del, XP_005254216.1:p.Ala7fs, NP_849190.2:p.Ala7fs
9.
rs1488641915 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:65053497
(GRCh38)
15:65345835
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65053496:G:A
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
NC_000015.10:g.65053497G>A, NC_000015.9:g.65345835G>A, NM_016563.4:c.*1402C>T, NM_016563.3:c.*1402C>T, NM_016563.2:c.*1402C>T, XM_011521660.4:c.*1402C>T, XM_011521660.3:c.*1402C>T, XM_011521660.2:c.*1402C>T, XM_011521660.1:c.*1402C>T, NM_001307930.2:c.*1402C>T, NM_001307930.1:c.*1402C>T, NM_001379429.1:c.*1402C>T
10.
rs1488552101 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATTCCAGCA>-
[Show Flanks]
- Chromosome:
- 15:65045911
(GRCh38)
15:65338249
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65045909:AATTCCAGCA:A
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488551881 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65051579
(GRCh38)
15:65343917
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65051578:C:T
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,coding_sequence_variant,intron_variant,synonymous_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000071/10
(GnomAD)
- HGVS:
NC_000015.10:g.65051579C>T, NC_000015.9:g.65343917C>T, XM_005254159.6:c.162C>T, XM_005254159.5:c.162C>T, XM_005254159.4:c.162C>T, XM_005254159.3:c.162C>T, XM_005254159.2:c.162C>T, XM_005254159.1:c.162C>T, NM_178859.4:c.162C>T, NM_178859.3:c.162C>T, XM_017022296.2:c.*411G>A
12.
rs1488206973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:65047207
(GRCh38)
15:65339545
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65047206:A:C,NC_000015.10:65047206:A:G
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1487656027 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 15:65048710
(GRCh38)
15:65341048
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65048709:A:T
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000023/6
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000779/13
(TOMMO)
T=0.001092/2
(Korea1K)
- HGVS:
15.
rs1487183187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:65050238
(GRCh38)
15:65342576
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65050237:T:C
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
16.
rs1486470352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:65051659
(GRCh38)
15:65343997
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65051658:C:T
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486403675 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:65051323
(GRCh38)
15:65343661
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65051322:A:C
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
18.
rs1486352477 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65052444
(GRCh38)
15:65344782
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65052443:A:G
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
19.
rs1485877512 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:65048632
(GRCh38)
15:65340970
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65048631:G:C
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
20.
rs1485683215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:65052061
(GRCh38)
15:65344399
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65052060:C:A
- Gene:
- RASL12 (Varview), SLC51B (Varview)
- Functional Consequence:
- missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS: