Links from Nucleotide
Items: 1 to 20 of 1000
1.
rs1491558304 has merged into rs1413530490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AATATAT>-,AATATATAATATAT
[Show Flanks]
- Chromosome:
- 1:206523452
(GRCh38)
1:206696785
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206523438:ATATATAATATATAATATAT:ATATATAATATAT,NC_000001.11:206523438:ATATATAATATATAATATAT:ATATATAATATATAATATATAATATAT
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATAATATATAATATATAATATAT=0./0
(
ALFA)
ATATATA=0.000004/1
(TOPMED)
- HGVS:
2.
rs1491479983 has merged into rs368124193 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACACACACACACAC>-,AC,ACAC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC,ACACACACACACACACACAC,ACACACACACACACACACACAC,ACACACACACACACACACACACAC,ACACACACACACACACACACACACAC,ACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACAC,ACACACACACACACACACACACACACACACACAC
[Show Flanks]
- Chromosome:
- 1:206508342
(GRCh38)
1:206681675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACAC,NC_000001.11:206508322:CACACACACACACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACACACACACACACACAC
- Gene:
- RASSF5 (Varview), LOC124904493 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CACACACACACACACACACAC=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.206508324AC[9], NC_000001.11:g.206508324AC[10], NC_000001.11:g.206508324AC[11], NC_000001.11:g.206508324AC[12], NC_000001.11:g.206508324AC[13], NC_000001.11:g.206508324AC[14], NC_000001.11:g.206508324AC[15], NC_000001.11:g.206508324AC[17], NC_000001.11:g.206508324AC[18], NC_000001.11:g.206508324AC[19], NC_000001.11:g.206508324AC[20], NC_000001.11:g.206508324AC[21], NC_000001.11:g.206508324AC[22], NC_000001.11:g.206508324AC[23], NC_000001.11:g.206508324AC[24], NC_000001.11:g.206508324AC[25], NC_000001.11:g.206508324AC[26], NW_003871057.1:g.499178AC[9], NW_003871057.1:g.499178AC[10], NW_003871057.1:g.499178AC[11], NW_003871057.1:g.499178AC[12], NW_003871057.1:g.499178AC[13], NW_003871057.1:g.499178AC[14], NW_003871057.1:g.499178AC[15], NW_003871057.1:g.499178AC[17], NW_003871057.1:g.499178AC[18], NW_003871057.1:g.499178AC[19], NW_003871057.1:g.499178AC[20], NW_003871057.1:g.499178AC[21], NW_003871057.1:g.499178AC[22], NW_003871057.1:g.499178AC[23], NW_003871057.1:g.499178AC[24], NW_003871057.1:g.499178AC[25], NW_003871057.1:g.499178AC[26], NG_029062.2:g.5779AC[9], NG_029062.2:g.5779AC[10], NG_029062.2:g.5779AC[11], NG_029062.2:g.5779AC[12], NG_029062.2:g.5779AC[13], NG_029062.2:g.5779AC[14], NG_029062.2:g.5779AC[15], NG_029062.2:g.5779AC[17], NG_029062.2:g.5779AC[18], NG_029062.2:g.5779AC[19], NG_029062.2:g.5779AC[20], NG_029062.2:g.5779AC[21], NG_029062.2:g.5779AC[22], NG_029062.2:g.5779AC[23], NG_029062.2:g.5779AC[24], NG_029062.2:g.5779AC[25], NG_029062.2:g.5779AC[26], NC_000001.10:g.206681657AC[9], NC_000001.10:g.206681657AC[10], NC_000001.10:g.206681657AC[11], NC_000001.10:g.206681657AC[12], NC_000001.10:g.206681657AC[13], NC_000001.10:g.206681657AC[14], NC_000001.10:g.206681657AC[15], NC_000001.10:g.206681657AC[17], NC_000001.10:g.206681657AC[18], NC_000001.10:g.206681657AC[19], NC_000001.10:g.206681657AC[20], NC_000001.10:g.206681657AC[21], NC_000001.10:g.206681657AC[22], NC_000001.10:g.206681657AC[23], NC_000001.10:g.206681657AC[24], NC_000001.10:g.206681657AC[25], NC_000001.10:g.206681657AC[26]
3.
rs1491432222 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 1:206553709
(GRCh38)
1:206727037
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206553708:AG:
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000043/6
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
4.
rs1491404355 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 1:206523444
(GRCh38)
1:206696777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206523437:TATATATA:TATATA
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATA=0.000184/3
(
ALFA)
-=0.000264/28
(GnomAD)
-=0.002018/34
(TOMMO)
- HGVS:
5.
rs1491361302 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 1:206523916
(GRCh38)
1:206697249
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206523915:AA:
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
6.
rs1491251842 has merged into rs1366334270 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-,TATA
[Show Flanks]
- Chromosome:
- 1:206523924
(GRCh38)
1:206697257
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206523916:ATATATATA:ATATATA,NC_000001.11:206523916:ATATATATA:ATATATATATA
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATATATATATA=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
7.
rs1491221714 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TACA
[Show Flanks]
- Chromosome:
- 1:206508323
(GRCh38)
1:206681657
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206508323:ACA:ACATACA
- Gene:
- RASSF5 (Varview), LOC124904493 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ACATACA=0./0
(
ALFA)
ACAT=0.00002/1
(GnomAD)
- HGVS:
8.
rs1491129759 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:206553709
(GRCh38)
1:206727038
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206553709:GGGGG:GGGGGG
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GGGGGG=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
9.
rs1491080897 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GC
[Show Flanks]
- Chromosome:
- 1:206504578
(GRCh38)
1:206677912
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206504578:GC:GCGC
- Gene:
- LOC124904493 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
GCGC=0./0
(
ALFA)
GC=0.000014/2
(GnomAD)
- HGVS:
10.
rs1491058293 has merged into rs201417256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:206555367
(GRCh38)
1:206728695
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206555365:TGT:T
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000162/3
(
ALFA)
-=0.000042/11
(TOPMED)
-=0.000076/10
(GnomAD)
-=0.000495/8
(TOMMO)
-=0.000678/3
(Estonian)
- HGVS:
12.
rs1490932091 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 1:206540256
(GRCh38)
1:206713586
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206540256:AAAA:AAAAA
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490902940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:206556243
(GRCh38)
1:206729571
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206556242:C:T
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490872975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:206557282
(GRCh38)
1:206730610
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206557281:G:A
- Gene:
- RASSF5 (Varview), LOC124904494 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_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:
15.
rs1490805891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:206548157
(GRCh38)
1:206721485
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206548156:C:A,NC_000001.11:206548156:C:T
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490793740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:206564895
(GRCh38)
1:206738223
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206564894:T:C
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490749144 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:206508870
(GRCh38)
1:206682203
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206508869:G:T
- Gene:
- RASSF5 (Varview), LOC124904493 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490703855 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:206523697
(GRCh38)
1:206697030
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206523696:A:T
- Gene:
- RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
19.
rs1490693634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:206582465
(GRCh38)
1:206755797
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206582464:G:A,NC_000001.11:206582464:G:T
- Gene:
- EIF2D (Varview), RASSF5 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS: