Links from Nucleotide
Items: 1 to 20 of 121
1.
rs1487820642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65296051
(GRCh38)
15:65588389
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296050:A:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000285/4
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000049/13
(TOPMED)
G=0.000283/5
(TOMMO)
G=0.000684/2
(KOREAN)
- HGVS:
2.
rs1476748106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 15:65296055
(GRCh38)
15:65588393
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296054:T:C,NC_000015.10:65296054:T:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
3.
rs1438337833 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:65296160
(GRCh38)
15:65588499
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296160::T
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
T=0.000071/1
(TOMMO)
T=0.000546/1
(Korea1K)
- HGVS:
4.
rs1431834068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65296111
(GRCh38)
15:65588449
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296110:A:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1426516937 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 15:65296134
(GRCh38)
15:65588472
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296133:CCC:CC
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1421330038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 15:65296119
(GRCh38)
15:65588457
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296118:A:C,NC_000015.10:65296118:A:G,NC_000015.10:65296118:A:T
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1409594053 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACT>-
[Show Flanks]
- Chromosome:
- 15:65296053
(GRCh38)
15:65588391
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296051:TACT:T
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
9.
rs1408816265 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 15:65296060
(GRCh38)
15:65588398
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296059:TTT:TT
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
10.
rs1399463113 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 15:65296078
(GRCh38)
15:65588416
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296077:AAA:AA,NC_000015.10:65296077:AAA:AAAA
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1385760860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ACCCAAT
[Show Flanks]
- Chromosome:
- 15:65296132
(GRCh38)
15:65588471
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296132:ACCCAAT:ACCCAATACCCAAT
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACCCAATACCCAAT=0.000071/1
(
ALFA)
ACCCAAT=0.000011/3
(TOPMED)
ACCCAAT=0.000021/3
(GnomAD)
- HGVS:
13.
rs1378398279 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G,GG
[Show Flanks]
- Chromosome:
- 15:65296157
(GRCh38)
15:65588496
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296157:GG:GGG,NC_000015.10:65296157:GG:GGGG
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGG=0./0
(
ALFA)
GG=0.000004/1
(TOPMED)
GG=0.000007/1
(GnomAD)
- HGVS:
14.
rs1373261134 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:65296138
(GRCh38)
15:65588477
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296138:TTTTTT:TTTTTTT
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
15.
rs1359727412 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 15:65296099
(GRCh38)
15:65588437
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296098:A:C,NC_000015.10:65296098:A:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1345975208 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 15:65296069
(GRCh38)
15:65588407
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296068:A:C,NC_000015.10:65296068:A:G,NC_000015.10:65296068:A:T
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000035/1
(TOMMO)
C=0.000223/1
(Estonian)
- HGVS:
17.
rs1344863373 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:65296058
(GRCh38)
15:65588397
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296058::A
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1338952858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:65296146
(GRCh38)
15:65588484
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296145:A:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1338610043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C,G
[Show Flanks]
- Chromosome:
- 15:65296077
(GRCh38)
15:65588415
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296076:T:A,NC_000015.10:65296076:T:C,NC_000015.10:65296076:T:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
- HGVS:
20.
rs1329965962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:65296151
(GRCh38)
15:65588489
(GRCh37)
- Canonical SPDI:
- NC_000015.10:65296150:T:G
- Gene:
- RNU5A-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: