Links from Nucleotide
Items: 1 to 20 of 311
2.
rs1484059514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:9516594
(GRCh38)
5:9516706
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516593:A:G
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000071/1
(TOMMO)
- HGVS:
3.
rs1483555786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:9517384
(GRCh38)
5:9517496
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9517383:G:A
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_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:
4.
rs1480405032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:9517712
(GRCh38)
5:9517824
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9517711:G:A,NC_000005.10:9517711:G:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1474262552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:9516810
(GRCh38)
5:9516922
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516809:G:A
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0./0
(GnomAD)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
A=0.000156/1
(1000Genomes)
G=0.5/1
(SGDP_PRJ)
- HGVS:
6.
rs1473710428 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:9516686
(GRCh38)
5:9516798
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516685:A:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
7.
rs1472065450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:9518061
(GRCh38)
5:9518173
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9518060:C:A
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1468452793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:9516886
(GRCh38)
5:9516998
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516885:C:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
- HGVS:
9.
rs1468070473 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:9517313
(GRCh38)
5:9517425
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9517312:A:C
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1466066253 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:9517485
(GRCh38)
5:9517597
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9517484:C:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1464706419 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:9518082
(GRCh38)
5:9518194
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9518081:A:C
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
12.
rs1458958981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:9516782
(GRCh38)
5:9516894
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516781:G:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1458396346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:9518015
(GRCh38)
5:9518127
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9518014:C:A
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1452332723 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:9516586
(GRCh38)
5:9516698
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516585:G:A
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1451317452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:9512021
(GRCh38)
5:9512133
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9512020:C:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1446950416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:9516826
(GRCh38)
5:9516938
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9516825:G:T
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_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.
rs1445678069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:9518003
(GRCh38)
5:9518115
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9518002:T:C
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_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:
20.
rs1441818097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 5:9517159
(GRCh38)
5:9517271
(GRCh37)
- Canonical SPDI:
- NC_000005.10:9517158:C:A,NC_000005.10:9517158:C:G
- Gene:
- SEMA5A (Varview), SEMA5A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: