Links from Gene
Items: 1 to 20 of 1000
2.
rs1491330963 has merged into rs371081462 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA,AAAAAA
[Show Flanks]
- Chromosome:
- 1:114711616
(GRCh38)
1:115254237
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:114711605:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.00183/22
(TOMMO)
-=0.0046/8
(Korea1K)
-=0.025/1
(GENOME_DK)
-=0.05424/32
(NorthernSweden)
- HGVS:
NC_000001.11:g.114711616_114711618del, NC_000001.11:g.114711617_114711618del, NC_000001.11:g.114711618del, NC_000001.11:g.114711618dup, NC_000001.11:g.114711617_114711618dup, NC_000001.11:g.114711616_114711618dup, NC_000001.10:g.115254237_115254239del, NC_000001.10:g.115254238_115254239del, NC_000001.10:g.115254239del, NC_000001.10:g.115254239dup, NC_000001.10:g.115254238_115254239dup, NC_000001.10:g.115254237_115254239dup, NG_007572.1:g.10287_10289del, NG_007572.1:g.10288_10289del, NG_007572.1:g.10289del, NG_007572.1:g.10289dup, NG_007572.1:g.10288_10289dup, NG_007572.1:g.10287_10289dup
3.
rs1490992362 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGAT>-
[Show Flanks]
- Chromosome:
- 1:114712416
(GRCh38)
1:115255037
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114712413:ATAAGAT:AT
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
4.
rs1490505809 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:114706610
(GRCh38)
1:115249231
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114706609:G:A
- Gene:
- NRAS (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490171912 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:114712931
(GRCh38)
1:115255552
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114712930:G:T
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490013906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:114708091
(GRCh38)
1:115250712
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114708090:G:A,NC_000001.11:114708090:G:T
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000049/13
(TOPMED)
- HGVS:
7.
rs1489890424 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:114704440
(GRCh38)
1:115247061
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114704439:C:A
- Gene:
- NRAS (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489286009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:114705135
(GRCh38)
1:115247756
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114705134:A:C
- Gene:
- NRAS (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489270013 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:114709290
(GRCh38)
1:115251911
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114709289:A:G
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489046047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:114706504
(GRCh38)
1:115249125
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114706503:T:C
- Gene:
- NRAS (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
11.
rs1488925435 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCA>-
[Show Flanks]
- Chromosome:
- 1:114714384
(GRCh38)
1:115257005
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114714380:CCACCA:CCA
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCACCA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
12.
rs1488817416 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114713054
(GRCh38)
1:115255675
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114713053:C:T
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1488780842 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114717685
(GRCh38)
1:115260306
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114717684:C:T
- Gene:
- NRAS (Varview), CSDE1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
NC_000001.11:g.114717685C>T, NC_000001.10:g.115260306C>T, NG_007572.1:g.4210G>A, NM_007158.6:c.*484G>A, NM_007158.5:c.*484G>A, NM_001130523.3:c.*484G>A, NM_001130523.2:c.*484G>A, NM_001007553.3:c.*484G>A, NM_001007553.2:c.*484G>A, NM_001242891.2:c.*484G>A, NM_001242891.1:c.*484G>A, NM_001242892.2:c.*484G>A, NM_001242892.1:c.*484G>A, NM_001242893.2:c.*484G>A, NM_001242893.1:c.*484G>A
14.
rs1488736263 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAA>-
[Show Flanks]
- Chromosome:
- 1:114709487
(GRCh38)
1:115252108
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114709484:AAGAA:AA
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0.000071/1
(
ALFA)
-=0.000035/1
(TOMMO)
-=0.000079/21
(TOPMED)
-=0.000086/12
(GnomAD)
- HGVS:
15.
rs1488685756 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:114711666
(GRCh38)
1:115254287
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114711665:G:A
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.001566/7
(
ALFA)
A=0.000036/5
(GnomAD)
A=0.001786/8
(Estonian)
- HGVS:
16.
rs1488610565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:114710162
(GRCh38)
1:115252783
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114710161:G:C
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488579329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114709177
(GRCh38)
1:115251798
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114709176:C:T
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1488480090 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:114718035
(GRCh38)
1:115260656
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114718034:A:T
- Gene:
- NRAS (Varview), CSDE1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
NC_000001.11:g.114718035A>T, NC_000001.10:g.115260656A>T, NG_007572.1:g.3860T>A, NM_007158.6:c.*134T>A, NM_007158.5:c.*134T>A, NM_001130523.3:c.*134T>A, NM_001130523.2:c.*134T>A, NM_001007553.3:c.*134T>A, NM_001007553.2:c.*134T>A, NM_001242891.2:c.*134T>A, NM_001242891.1:c.*134T>A, NM_001242892.2:c.*134T>A, NM_001242892.1:c.*134T>A, NM_001242893.2:c.*134T>A, NM_001242893.1:c.*134T>A
20.
rs1488239038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:114712973
(GRCh38)
1:115255594
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114712972:A:G
- Gene:
- NRAS (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS: