Links from Gene
Items: 1 to 20 of 1383
1.
rs1490700707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:2531504
(GRCh38)
1:2462943
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2531503:G:A,NC_000001.11:2531503:G:C
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1488957951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 1:2531549
(GRCh38)
1:2462988
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2531548:C:G,NC_000001.11:2531548:C:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
3.
rs1487414460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:2529502
(GRCh38)
1:2460941
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529501:G:C
- Gene:
- HES5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000001.11:g.2529502G>C, NC_000001.10:g.2460941G>C, NT_187515.1:g.80692G>C, XM_005244751.5:c.564C>G, XM_005244751.4:c.564C>G, XM_005244751.3:c.564C>G, XM_005244751.2:c.564C>G, XM_005244751.1:c.564C>G, NM_001010926.4:c.468C>G, NM_001010926.3:c.468C>G, XP_005244808.1:p.His188Gln, NP_001010926.1:p.His156Gln
4.
rs1487358528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:2531912
(GRCh38)
1:2463351
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2531911:G:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
5.
rs1487295720 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:2531614
(GRCh38)
1:2463053
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2531613:G:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1487158391 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:2531824
(GRCh38)
1:2463263
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2531823:G:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
7.
rs1486814390 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 1:2528789
(GRCh38)
1:2460228
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2528788:G:C
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1486596209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:2528994
(GRCh38)
1:2460433
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2528993:G:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 3_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:
9.
rs1486495950 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:2528661
(GRCh38)
1:2460100
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2528660:T:C
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
C=0.000312/2
(1000Genomes)
- HGVS:
10.
rs1485569287 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:2529618
(GRCh38)
1:2461057
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529617:G:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000013/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.2529618G>A, NC_000001.10:g.2461057G>A, NT_187515.1:g.80808G>A, XM_005244751.5:c.448C>T, XM_005244751.4:c.448C>T, XM_005244751.3:c.448C>T, XM_005244751.2:c.448C>T, XM_005244751.1:c.448C>T, NM_001010926.4:c.352C>T, NM_001010926.3:c.352C>T, XP_005244808.1:p.His150Tyr, NP_001010926.1:p.His118Tyr
11.
rs1485511574 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:2529393
(GRCh38)
1:2460832
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529392:A:G
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1485163777 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:2530317
(GRCh38)
1:2461756
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2530316:G:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
13.
rs1484526747 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:2530232
(GRCh38)
1:2461671
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2530231:C:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483548141 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:2530926
(GRCh38)
1:2462365
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2530925:G:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
15.
rs1483426423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 1:2530444
(GRCh38)
1:2461883
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2530443:A:C,NC_000001.11:2530443:A:G
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
16.
rs1483360511 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:2530248
(GRCh38)
1:2461687
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2530247:C:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1483330478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:2529548
(GRCh38)
1:2460987
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529547:G:C,NC_000001.11:2529547:G:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000001.11:g.2529548G>C, NC_000001.11:g.2529548G>T, NC_000001.10:g.2460987G>C, NC_000001.10:g.2460987G>T, NT_187515.1:g.80738G>C, NT_187515.1:g.80738G>T, XM_005244751.5:c.518C>G, XM_005244751.5:c.518C>A, XM_005244751.4:c.518C>G, XM_005244751.4:c.518C>A, XM_005244751.3:c.518C>G, XM_005244751.3:c.518C>A, XM_005244751.2:c.518C>G, XM_005244751.2:c.518C>A, XM_005244751.1:c.518C>G, XM_005244751.1:c.518C>A, NM_001010926.4:c.422C>G, NM_001010926.4:c.422C>A, NM_001010926.3:c.422C>G, NM_001010926.3:c.422C>A, XP_005244808.1:p.Pro173Arg, XP_005244808.1:p.Pro173Gln, NP_001010926.1:p.Pro141Arg, NP_001010926.1:p.Pro141Gln
18.
rs1483311413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:2529582
(GRCh38)
1:2461021
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529581:C:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000022/3
(GnomAD)
- HGVS:
NC_000001.11:g.2529582C>A, NC_000001.10:g.2461021C>A, NT_187515.1:g.80772C>A, XM_005244751.5:c.484G>T, XM_005244751.4:c.484G>T, XM_005244751.3:c.484G>T, XM_005244751.2:c.484G>T, XM_005244751.1:c.484G>T, NM_001010926.4:c.388G>T, NM_001010926.3:c.388G>T, XP_005244808.1:p.Ala162Ser, NP_001010926.1:p.Ala130Ser
19.
rs1483305735 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:2529873
(GRCh38)
1:2461312
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529872:C:T
- Gene:
- HES5 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00016/1
(1000Genomes)
- HGVS:
NC_000001.11:g.2529873C>T, NC_000001.10:g.2461312C>T, NT_187515.1:g.81063C>T, XM_005244751.5:c.193G>A, XM_005244751.4:c.193G>A, XM_005244751.3:c.193G>A, XM_005244751.2:c.193G>A, XM_005244751.1:c.193G>A, NM_001010926.4:c.193G>A, NM_001010926.3:c.193G>A, XP_005244808.1:p.Ala65Thr, NP_001010926.1:p.Ala65Thr
20.
rs1482590917 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:2529865
(GRCh38)
1:2461304
(GRCh37)
- Canonical SPDI:
- NC_000001.11:2529864:G:A
- Gene:
- HES5 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS: