Links from Gene
Items: 1 to 20 of 824
1.
rs1490833229 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 6:144095177
(GRCh38)
6:144416314
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144095176:A:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490639013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:144096719
(GRCh38)
6:144417856
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096718:C:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000671/3
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.00067/3
(Estonian)
- HGVS:
3.
rs1489223051 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 6:144097021
(GRCh38)
6:144418158
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144097020:T:G
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1488547145 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:144095958
(GRCh38)
6:144417095
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144095957:G:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1488517113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:144096988
(GRCh38)
6:144418125
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096987:T:A
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1488383318 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:144096527
(GRCh38)
6:144417664
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096526:C:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1487889731 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:144096920
(GRCh38)
6:144418057
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096919:T:C
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
10.
rs1487531870 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:144097465
(GRCh38)
6:144418602
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144097464:C:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
11.
rs1485842192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:144096307
(GRCh38)
6:144417444
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096306:C:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1481791960 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:144094884
(GRCh38)
6:144416021
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144094883:T:C
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
13.
rs1480393812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 6:144095717
(GRCh38)
6:144416854
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144095716:G:T
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
14.
rs1479136441 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:144094752
(GRCh38)
6:144415889
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144094751:T:C
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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.
rs1478911254 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:144097192
(GRCh38)
6:144418329
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144097191:A:C
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_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:
16.
rs1478107806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 6:144096019
(GRCh38)
6:144417156
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144096018:C:G
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
18.
rs1477097326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:144097518
(GRCh38)
6:144418655
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144097517:T:C
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
19.
rs1475244424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:144097448
(GRCh38)
6:144418585
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144097447:A:G
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
20.
rs1474016068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGCACA>-
[Show Flanks]
- Chromosome:
- 6:144095679
(GRCh38)
6:144416816
(GRCh37)
- Canonical SPDI:
- NC_000006.12:144095677:AAGCACA:A
- Gene:
- SF3B5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: