Links from Gene
Items: 1 to 20 of 4713
1.
rs1491001460 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:66416987
(GRCh38)
11:66184458
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66416986:A:G
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
2.
rs1490852176 has merged into rs201887675 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CACA>-,CA,CACACACA
[Show Flanks]
- Chromosome:
- 11:66418017
(GRCh38)
11:66185488
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66418009:ACACACACACA:ACACACA,NC_000011.10:66418009:ACACACACACA:ACACACACA,NC_000011.10:66418009:ACACACACACA:ACACACACACACACA
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACACACACA=0./0
(
ALFA)
-=0./0
(ALSPAC)
-=0.00027/1
(TWINSUK)
-=0.00028/5
(TOMMO)
-=0.01437/92
(1000Genomes)
- HGVS:
3.
rs1490817086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:66425326
(GRCh38)
11:66192797
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66425325:G:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490545362 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 11:66408608
(GRCh38)
11:66176079
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66408607:G:C,NC_000011.10:66408607:G:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.00112/2
(Korea1K)
- HGVS:
6.
rs1490368981 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:66411739
(GRCh38)
11:66179210
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66411738:C:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
7.
rs1490361376 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 11:66417500
(GRCh38)
11:66184971
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66417499:AT:
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490327085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:66424730
(GRCh38)
11:66192201
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66424729:G:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
- HGVS:
NC_000011.10:g.66424730G>T, NC_000011.9:g.66192201G>T, NM_178864.4:c.1840G>T, NM_178864.3:c.1840G>T, XM_017017538.2:c.1003G>T, XM_017017538.1:c.1003G>T, XM_047426764.1:c.2071G>T, XM_047426765.1:c.2071G>T, NM_001318804.1:c.1210G>T, NP_849195.2:p.Ala614Ser, XP_016873027.1:p.Ala335Ser, XP_047282720.1:p.Ala691Ser, XP_047282721.1:p.Ala691Ser, NP_001305733.1:p.Ala404Ser
9.
rs1490270516 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:66423376
(GRCh38)
11:66190847
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66423375:G:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- intron_variant,splice_donor_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490093688 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:66409001
(GRCh38)
11:66176472
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66409000:G:C
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490063033 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:66408101
(GRCh38)
11:66175572
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66408100:C:G
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489855648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:66415142
(GRCh38)
11:66182613
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66415141:G:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489805600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:66411778
(GRCh38)
11:66179249
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66411777:G:A,NC_000011.10:66411777:G:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
14.
rs1489264558 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:66421401
(GRCh38)
11:66188872
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66421400:G:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000111/1
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1488712869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:66419704
(GRCh38)
11:66187175
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66419703:G:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1488574632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:66426282
(GRCh38)
11:66193753
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66426281:C:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488511647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 11:66424234
(GRCh38)
11:66191705
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66424233:G:A,NC_000011.10:66424233:G:T
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.66424234G>A, NC_000011.10:g.66424234G>T, NC_000011.9:g.66191705G>A, NC_000011.9:g.66191705G>T, NM_178864.4:c.1344G>A, NM_178864.4:c.1344G>T, NM_178864.3:c.1344G>A, NM_178864.3:c.1344G>T, XM_017017538.2:c.507G>A, XM_017017538.2:c.507G>T, XM_017017538.1:c.507G>A, XM_017017538.1:c.507G>T, XM_047426764.1:c.1575G>A, XM_047426764.1:c.1575G>T, XM_047426765.1:c.1575G>A, XM_047426765.1:c.1575G>T, NM_001318804.1:c.714G>A, NM_001318804.1:c.714G>T, NP_849195.2:p.Leu448Phe, XP_016873027.1:p.Leu169Phe, XP_047282720.1:p.Leu525Phe, XP_047282721.1:p.Leu525Phe, NP_001305733.1:p.Leu238Phe
19.
rs1488463611 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 11:66426034
(GRCh38)
11:66193505
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66426033:AA:A
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488460040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:66411665
(GRCh38)
11:66179136
(GRCh37)
- Canonical SPDI:
- NC_000011.10:66411664:A:G
- Gene:
- NPAS4 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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: