Links from Nucleotide
Items: 1 to 20 of 162
1.
rs1489734614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:17759165
(GRCh38)
17:17662479
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759164:G:T
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_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:
2.
rs1487781557 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:17766117
(GRCh38)
17:17669431
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766116:C:G,NC_000017.11:17766116:C:T
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_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:
3.
rs1476672308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:17765888
(GRCh38)
17:17669202
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17765887:C:G
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,genic_upstream_transcript_variant,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:
6.
rs1468552806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:17759330
(GRCh38)
17:17662644
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759329:A:G
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_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:
7.
rs1465007252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:17759362
(GRCh38)
17:17662676
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759361:A:G
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
8.
rs1446232128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:17766216
(GRCh38)
17:17669530
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766215:C:T
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1445901102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 17:17759277
(GRCh38)
17:17662591
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759276:T:G
- Gene:
- RAI1 (Varview), RAI1-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=0.000007/1
(GnomAD)
- HGVS:
10.
rs1444382718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:17766097
(GRCh38)
17:17669411
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766096:G:A
- Gene:
- RAI1 (Varview), RAI1-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:
11.
rs1441077868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:17765930
(GRCh38)
17:17669244
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17765929:G:A
- Gene:
- RAI1 (Varview), RAI1-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=0.000011/3
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1438658552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:17766065
(GRCh38)
17:17669379
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766064:G:T
- Gene:
- RAI1 (Varview), RAI1-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=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1437941296 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 17:17766077
(GRCh38)
17:17669391
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766076:C:A
- Gene:
- RAI1 (Varview), RAI1-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=0.000011/3
(TOPMED)
- HGVS:
14.
rs1437507113 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:17759302
(GRCh38)
17:17662616
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759301:C:T
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1432973517 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GC>-
[Show Flanks]
- Chromosome:
- 17:17759374
(GRCh38)
17:17662688
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759373:GC:
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1431993223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:17766286
(GRCh38)
17:17669600
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766285:A:C
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000042/11
(TOPMED)
- HGVS:
17.
rs1429363356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:17766296
(GRCh38)
17:17669610
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766295:A:G
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
18.
rs1404501562 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:17759194
(GRCh38)
17:17662508
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17759193:G:T
- Gene:
- RAI1 (Varview), RAI1-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:
19.
rs1403230826 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:17766193
(GRCh38)
17:17669507
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17766192:C:T
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1401749365 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:17765832
(GRCh38)
17:17669146
(GRCh37)
- Canonical SPDI:
- NC_000017.11:17765831:GGGG:GGG
- Gene:
- RAI1 (Varview), RAI1-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS: