Links from Gene
Items: 1 to 20 of 837
2.
rs1491136844 has merged into rs369524637 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT,TTTATTTT,TTTATTTTATTTT,TTTATTTTCTTT,TTTATTTTTT,TTTATTTTTTTT
[Show Flanks]
- Chromosome:
- 14:20956803
(GRCh38)
14:21424962
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20956801:TTT:T,NC_000014.9:20956801:TTT:TTTT,NC_000014.9:20956801:TTT:TTTTATTTT,NC_000014.9:20956801:TTT:TTTTATTTTATTTT,NC_000014.9:20956801:TTT:TTTTATTTTCTTT,NC_000014.9:20956801:TTT:TTTTATTTTTT,NC_000014.9:20956801:TTT:TTTTATTTTTTTT
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
TTTTATTTTT=0.00007/1
(TOMMO)
T=0.00016/1
(1000Genomes)
TTTTATTTTT=0.00055/1
(Korea1K)
- HGVS:
NC_000014.9:g.20956803_20956804del, NC_000014.9:g.20956804dup, NC_000014.9:g.20956802_20956804T[4]ATTTT[1], NC_000014.9:g.20956802_20956804TTTTA[2]T[4], NC_000014.9:g.20956802_20956804T[4]ATTTTCTTT[1], NC_000014.9:g.20956802_20956804T[4]ATTTTTT[1], NC_000014.9:g.20956802_20956804T[4]ATTTTTTTT[1], NC_000014.8:g.21424962_21424963del, NC_000014.8:g.21424963dup, NC_000014.8:g.21424961_21424963T[4]ATTTT[1], NC_000014.8:g.21424961_21424963TTTTA[2]T[4], NC_000014.8:g.21424961_21424963T[4]ATTTTCTTT[1], NC_000014.8:g.21424961_21424963T[4]ATTTTTT[1], NC_000014.8:g.21424961_21424963T[4]ATTTTTTTT[1]
3.
rs1489202518 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20953840
(GRCh38)
14:21421999
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20953839:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
T=0.000156/1
(1000Genomes)
- HGVS:
4.
rs1486188673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20955747
(GRCh38)
14:21423906
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20955746:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1486023146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:20956776
(GRCh38)
14:21424935
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20956775:A:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1485323829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20956733
(GRCh38)
14:21424892
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20956732:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1484828150 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20956854
(GRCh38)
14:21425013
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20956853:G:A
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
9.
rs1484177239 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 14:20954961
(GRCh38)
14:21423120
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20954960:T:C,NC_000014.9:20954960:T:G
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000038/10
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
10.
rs1484152813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20953557
(GRCh38)
14:21421716
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20953556:G:A
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1482364001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20956743
(GRCh38)
14:21424902
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20956742:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000026/7
(TOPMED)
T=0.000037/5
(GnomAD)
- HGVS:
13.
rs1481467225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20955469
(GRCh38)
14:21423628
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20955468:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
- HGVS:
14.
rs1481213192 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:20955927
(GRCh38)
14:21424086
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20955926:T:C
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_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.
rs1480955782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20954843
(GRCh38)
14:21423002
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20954842:G:A
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000214/3
(
ALFA)
A=0.000068/18
(TOPMED)
A=0.000086/12
(GnomAD)
- HGVS:
16.
rs1479445935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20953979
(GRCh38)
14:21422138
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20953978:G:A
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1478661274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:20953522
(GRCh38)
14:21421681
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20953521:G:A,NC_000014.9:20953521:G:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1478005082 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:20954343
(GRCh38)
14:21422502
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20954342:C:T
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
19.
rs1477951876 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:20955020
(GRCh38)
14:21423179
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20955019:G:A
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1477768276 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:20955346
(GRCh38)
14:21423505
(GRCh37)
- Canonical SPDI:
- NC_000014.9:20955345:A:G
- Gene:
- RNASE2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000064/9
(GnomAD)
G=0.000087/23
(TOPMED)
- HGVS: