Links from Nucleotide
Items: 1 to 20 of 2876
1.
rs1491366133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TGCAGG
[Show Flanks]
- Chromosome:
- 14:24339928
(GRCh38)
14:24809135
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24339928:GTGCAGG:GTGCAGGTGCAGG
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GTGCAGGTGCAGG=0.000285/4
(
ALFA)
GTGCAG=0.000221/31
(GnomAD)
- HGVS:
2.
rs1490999467 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:24337454
(GRCh38)
14:24806660
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24337453:C:A,NC_000014.9:24337453:C:T
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.24337454C>A, NC_000014.9:g.24337454C>T, NG_046975.1:g.7583G>T, NG_046975.1:g.7583G>A, NM_006871.4:c.907G>T, NM_006871.4:c.907G>A, NM_006871.3:c.907G>T, NM_006871.3:c.907G>A, NG_074679.1:g.112C>A, NG_074679.1:g.112C>T, NW_018654722.1:g.638432C>A, NW_018654722.1:g.638432C>T, NC_000014.8:g.24806660C>A, NC_000014.8:g.24806660C>T, NP_006862.2:p.Asp303Tyr, NP_006862.2:p.Asp303Asn
3.
rs1490781314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24340323
(GRCh38)
14:24809529
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24340322:A:G
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000043/6
(GnomAD)
G=0.000076/20
(TOPMED)
- HGVS:
4.
rs1490720100 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24345009
(GRCh38)
14:24814215
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24345008:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1490648127 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24336295
(GRCh38)
14:24805501
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24336294:C:T
- Gene:
- RIPK3 (Varview), ADCY4 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,synonymous_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
6.
rs1490607308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24344218
(GRCh38)
14:24813424
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24344217:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489787828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24344642
(GRCh38)
14:24813848
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24344641:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489509696 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:24342196
(GRCh38)
14:24811402
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24342195:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
9.
rs1489458064 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:24343175
(GRCh38)
14:24812381
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24343174:A:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489235246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:24337760
(GRCh38)
14:24806966
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24337759:A:G
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1488626806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24335013
(GRCh38)
14:24804219
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24335012:C:T
- Gene:
- ADCY4 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1488323618 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:24344103
(GRCh38)
14:24813309
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24344102:T:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
13.
rs1487824209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTAT
[Show Flanks]
- Chromosome:
- 14:24343702
(GRCh38)
14:24812909
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24343702:ATGTATGTATGTAT:ATGTATGTATGTATGTAT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATGTATGTATGTATGTAT=0./0
(
ALFA)
ATGT=0.000004/1
(TOPMED)
ATGT=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487472633 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:24342567
(GRCh38)
14:24811773
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24342566:G:A,NC_000014.9:24342566:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487422046 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:24343615
(GRCh38)
14:24812821
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24343614:T:G
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486560362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:24340926
(GRCh38)
14:24810132
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24340925:G:A
- Gene:
- RIPK3 (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:
17.
rs1485867303 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24339243
(GRCh38)
14:24808449
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24339242:C:T
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1485614996 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:24342993
(GRCh38)
14:24812199
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24342992:AT:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
-=0.000043/6
(GnomAD)
- HGVS:
19.
rs1484846736 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:24339535
(GRCh38)
14:24808741
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24339534:C:T
- Gene:
- RIPK3 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1483614302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:24334809
(GRCh38)
14:24804015
(GRCh37)
- Canonical SPDI:
- NC_000014.9:24334808:C:G
- Gene:
- ADCY4 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS: