Links from Gene
Items: 1 to 20 of 653
1.
rs1490496440 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:24986241
(GRCh38)
15:25231388
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986240:C:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490075271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:24986261
(GRCh38)
15:25231408
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986260:A:G
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1488897760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:24986068
(GRCh38)
15:25231215
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986067:T:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000142/2
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
5.
rs1488868732 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:24986351
(GRCh38)
15:25231498
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986350:T:G
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1484401570 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:24986170
(GRCh38)
15:25231317
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986169:C:A
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
9.
rs1483708052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:24985531
(GRCh38)
15:25230678
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985530:T:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNORD64 (Varview), SNHG14 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,500B_downstream_variant,intron_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
10.
rs1483391188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 15:24985136
(GRCh38)
15:25230283
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985135:A:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNORD64 (Varview), SNHG14 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1482058862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:24987444
(GRCh38)
15:25232591
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24987443:A:G
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,non_coding_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
12.
rs1480740650 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 15:24985747
(GRCh38)
15:25230894
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985746:A:C,NC_000015.10:24985746:A:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1480615343 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:24986066
(GRCh38)
15:25231213
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986065:C:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1479938584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:24986095
(GRCh38)
15:25231242
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986094:T:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_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.
rs1479830335 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 15:24985321
(GRCh38)
15:25230468
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985320:C:A,NC_000015.10:24985320:C:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNORD64 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000106/2
(TOMMO)
- HGVS:
16.
rs1478860964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:24986609
(GRCh38)
15:25231756
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986608:T:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
17.
rs1476494006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 15:24985260
(GRCh38)
15:25230407
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985259:G:A,NC_000015.10:24985259:G:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNORD64 (Varview), SNHG14 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1474610376 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:24986152
(GRCh38)
15:25231299
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986151:G:C
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1474222305 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:24985113
(GRCh38)
15:25230260
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24985112:G:A
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNORD64 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
20.
rs1474118989 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:24986311
(GRCh38)
15:25231458
(GRCh37)
- Canonical SPDI:
- NC_000015.10:24986309:TAT:T
- Gene:
- PWAR5 (Varview), SNORD108 (Varview), SNHG14 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS: