Links from Nucleotide
Items: 1 to 20 of 126
1.
rs1491360954 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G,T
[Show Flanks]
- Chromosome:
- 1:44731097
(GRCh38)
1:45196770
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731097::G,NC_000001.11:44731097::T
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000026/7
(TOPMED)
- HGVS:
2.
rs1491187406 has merged into rs1197688192 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 1:44731099
(GRCh38)
1:45196771
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731096:AAAA:AA,NC_000001.11:44731096:AAAA:AAAAA,NC_000001.11:44731096:AAAA:AAAAAA,NC_000001.11:44731096:AAAA:AAAAAAA
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000001.11:g.44731099_44731100del, NC_000001.11:g.44731100dup, NC_000001.11:g.44731099_44731100dup, NC_000001.11:g.44731098_44731100dup, NC_000001.10:g.45196771_45196772del, NC_000001.10:g.45196772dup, NC_000001.10:g.45196771_45196772dup, NC_000001.10:g.45196770_45196772dup, NR_002755.3:n.71_72del, NR_002755.3:n.72dup, NR_002755.3:n.71_72dup, NR_002755.3:n.70_72dup
3.
rs1477537419 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 1:44731083
(GRCh38)
1:45196755
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731082:TTT:TT,NC_000001.11:44731082:TTT:TTTT
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTT=0./0
(
ALFA)
-=0.000064/9
(GnomAD)
-=0.000068/18
(TOPMED)
- HGVS:
4.
rs1472163575 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:44731110
(GRCh38)
1:45196783
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731110:CC:CCC
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
6.
rs1446178817 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:44731158
(GRCh38)
1:45196830
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731157:G:
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000029/4
(GnomAD)
-=0.000312/2
(1000Genomes)
- HGVS:
7.
rs1440343422 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,G
[Show Flanks]
- Chromosome:
- 1:44731075
(GRCh38)
1:45196748
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731075::A,NC_000001.11:44731075::G
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000071/1
(TOMMO)
- HGVS:
8.
rs1413008289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:44731155
(GRCh38)
1:45196827
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731154:A:C,NC_000001.11:44731154:A:G
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
9.
rs1409580437 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AACTCAAAAC>-
[Show Flanks]
- Chromosome:
- 1:44731092
(GRCh38)
1:45196764
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731091:AACTCAAAAC:
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.000014/2
(GnomAD)
- HGVS:
10.
rs1364534714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:44731073
(GRCh38)
1:45196746
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731073:TT:TTT
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000071/1
(
ALFA)
T=0.000043/6
(GnomAD)
T=0.00006/16
(TOPMED)
- HGVS:
12.
rs1350459522 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:44731105
(GRCh38)
1:45196778
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731105::A
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000072/10
(GnomAD)
A=0.000079/21
(TOPMED)
- HGVS:
13.
rs1340395393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:44731078
(GRCh38)
1:45196750
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731077:A:G,NC_000001.11:44731077:A:T
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000057/8
(GnomAD)
G=0.000389/7
(TOMMO)
G=0.000546/1
(Korea1K)
- HGVS:
14.
rs1330924968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:44731100
(GRCh38)
1:45196772
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731099:A:G,NC_000001.11:44731099:A:T
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00055/1
(Korea1K)
G=0.00068/2
(KOREAN)
- HGVS:
15.
rs1326391320 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 1:44731161
(GRCh38)
1:45196834
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731161:CC:CCC
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCC=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1315444117 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:44731153
(GRCh38)
1:45196826
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731153::T
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000038/10
(TOPMED)
T=0.000057/8
(GnomAD)
- HGVS:
17.
rs1307911468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:44731160
(GRCh38)
1:45196832
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731159:A:C,NC_000001.11:44731159:A:G
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
18.
rs1297573671 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:44731115
(GRCh38)
1:45196788
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731115::A
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
19.
rs1271512024 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 1:44731121
(GRCh38)
1:45196794
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731121::GT
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GT=0.000071/1
(
ALFA)
GT=0.000036/5
(GnomAD)
- HGVS:
20.
rs1259510222 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:44731156
(GRCh38)
1:45196829
(GRCh37)
- Canonical SPDI:
- NC_000001.11:44731156:A:AA
- Gene:
- RNU5D-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.00023/32
(GnomAD)
- HGVS: