Links from Gene
Items: 1 to 20 of 1000
4.
rs1491298276 has merged into rs34072500 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:52028212
(GRCh38)
12:52421996
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:52028202:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NR4A1 (Varview), LOC124902934 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.52028212_52028229del, NC_000012.12:g.52028213_52028229del, NC_000012.12:g.52028214_52028229del, NC_000012.12:g.52028215_52028229del, NC_000012.12:g.52028216_52028229del, NC_000012.12:g.52028217_52028229del, NC_000012.12:g.52028218_52028229del, NC_000012.12:g.52028219_52028229del, NC_000012.12:g.52028220_52028229del, NC_000012.12:g.52028221_52028229del, NC_000012.12:g.52028222_52028229del, NC_000012.12:g.52028223_52028229del, NC_000012.12:g.52028224_52028229del, NC_000012.12:g.52028225_52028229del, NC_000012.12:g.52028226_52028229del, NC_000012.12:g.52028227_52028229del, NC_000012.12:g.52028228_52028229del, NC_000012.12:g.52028229del, NC_000012.12:g.52028229dup, NC_000012.12:g.52028228_52028229dup, NC_000012.12:g.52028227_52028229dup, NC_000012.12:g.52028226_52028229dup, NC_000012.12:g.52028224_52028229dup, NC_000012.12:g.52028223_52028229dup, NC_000012.11:g.52421996_52422013del, NC_000012.11:g.52421997_52422013del, NC_000012.11:g.52421998_52422013del, NC_000012.11:g.52421999_52422013del, NC_000012.11:g.52422000_52422013del, NC_000012.11:g.52422001_52422013del, NC_000012.11:g.52422002_52422013del, NC_000012.11:g.52422003_52422013del, NC_000012.11:g.52422004_52422013del, NC_000012.11:g.52422005_52422013del, NC_000012.11:g.52422006_52422013del, NC_000012.11:g.52422007_52422013del, NC_000012.11:g.52422008_52422013del, NC_000012.11:g.52422009_52422013del, NC_000012.11:g.52422010_52422013del, NC_000012.11:g.52422011_52422013del, NC_000012.11:g.52422012_52422013del, NC_000012.11:g.52422013del, NC_000012.11:g.52422013dup, NC_000012.11:g.52422012_52422013dup, NC_000012.11:g.52422011_52422013dup, NC_000012.11:g.52422010_52422013dup, NC_000012.11:g.52422008_52422013dup, NC_000012.11:g.52422007_52422013dup
6.
rs1491163719 has merged into rs1555168682 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GAGAGAGA>-,GA,GAGA,GAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA
[Show Flanks]
- Chromosome:
- 12:52052321
(GRCh38)
12:52446105
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,NC_000012.12:52052304:GAGAGAGAGAGAGAGAGAGAGAGA:GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA
- Gene:
- NR4A1 (Varview), LOC107984510 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAGAGAGAGAGAGAGAGA=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.52052305GA[8], NC_000012.12:g.52052305GA[9], NC_000012.12:g.52052305GA[10], NC_000012.12:g.52052305GA[11], NC_000012.12:g.52052305GA[13], NC_000012.12:g.52052305GA[14], NC_000012.12:g.52052305GA[15], NC_000012.12:g.52052305GA[16], NC_000012.12:g.52052305GA[17], NC_000012.12:g.52052305GA[18], NC_000012.11:g.52446089GA[8], NC_000012.11:g.52446089GA[9], NC_000012.11:g.52446089GA[10], NC_000012.11:g.52446089GA[11], NC_000012.11:g.52446089GA[13], NC_000012.11:g.52446089GA[14], NC_000012.11:g.52446089GA[15], NC_000012.11:g.52446089GA[16], NC_000012.11:g.52446089GA[17], NC_000012.11:g.52446089GA[18]
7.
rs1491102966 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 12:52052329
(GRCh38)
12:52446113
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52052327:AAA:A
- Gene:
- NR4A1 (Varview), LOC107984510 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000612/10
(
ALFA)
-=0.002248/311
(GnomAD)
- HGVS:
8.
rs1491008794 has merged into rs532559170 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:52025075
(GRCh38)
12:52418859
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:52025063:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NR4A1 (Varview), LOC124902934 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.52025075_52025081del, NC_000012.12:g.52025076_52025081del, NC_000012.12:g.52025077_52025081del, NC_000012.12:g.52025078_52025081del, NC_000012.12:g.52025079_52025081del, NC_000012.12:g.52025080_52025081del, NC_000012.12:g.52025081del, NC_000012.12:g.52025081dup, NC_000012.12:g.52025080_52025081dup, NC_000012.12:g.52025079_52025081dup, NC_000012.12:g.52025078_52025081dup, NC_000012.12:g.52025077_52025081dup, NC_000012.11:g.52418859_52418865del, NC_000012.11:g.52418860_52418865del, NC_000012.11:g.52418861_52418865del, NC_000012.11:g.52418862_52418865del, NC_000012.11:g.52418863_52418865del, NC_000012.11:g.52418864_52418865del, NC_000012.11:g.52418865del, NC_000012.11:g.52418865dup, NC_000012.11:g.52418864_52418865dup, NC_000012.11:g.52418863_52418865dup, NC_000012.11:g.52418862_52418865dup, NC_000012.11:g.52418861_52418865dup, NG_056586.1:g.391_397del, NG_056586.1:g.392_397del, NG_056586.1:g.393_397del, NG_056586.1:g.394_397del, NG_056586.1:g.395_397del, NG_056586.1:g.396_397del, NG_056586.1:g.397del, NG_056586.1:g.397dup, NG_056586.1:g.396_397dup, NG_056586.1:g.395_397dup, NG_056586.1:g.394_397dup, NG_056586.1:g.393_397dup
9.
rs1490973684 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:52040781
(GRCh38)
12:52434565
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52040780:C:T
- Gene:
- NR4A1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000012.12:g.52040781C>T, NC_000012.11:g.52434565C>T, XM_017019248.2:c.449C>T, XM_017019248.1:c.449C>T, XM_017019249.2:c.449C>T, XM_017019249.1:c.449C>T, XM_047428755.1:c.449C>T, XM_047428756.1:c.-195C>T, XM_047428757.1:c.449C>T, XP_016874737.1:p.Ser150Phe, XP_016874738.1:p.Ser150Phe, XP_047284711.1:p.Ser150Phe, XP_047284713.1:p.Ser150Phe
11.
rs1490909088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:52054174
(GRCh38)
12:52447958
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52054173:A:G
- Gene:
- NR4A1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
12.
rs1490662619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 12:52048861
(GRCh38)
12:52442645
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52048860:G:T
- Gene:
- NR4A1 (Varview), LOC107984510 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490425434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:52033638
(GRCh38)
12:52427422
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52033637:T:C
- Gene:
- NR4A1 (Varview), LOC124902934 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490398369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:52028952
(GRCh38)
12:52422736
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52028951:C:T
- Gene:
- NR4A1 (Varview), LOC124902934 (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=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490312307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:52034639
(GRCh38)
12:52428423
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52034638:A:G
- Gene:
- NR4A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.00003/8
(TOPMED)
- HGVS:
17.
rs1490261891 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 12:52020925
(GRCh38)
12:52414710
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52020925:CCCC:CCCCC
- Gene:
- NR4A1 (Varview), LOC124902934 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000743/12
(TOMMO)
C=0.001092/2
(Korea1K)
- HGVS:
18.
rs1490247140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:52035225
(GRCh38)
12:52429009
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52035224:A:C,NC_000012.12:52035224:A:G
- Gene:
- NR4A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490151142 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 12:52041275
(GRCh38)
12:52435059
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52041274:A:
- Gene:
- NR4A1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1490137875 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:52026459
(GRCh38)
12:52420243
(GRCh37)
- Canonical SPDI:
- NC_000012.12:52026458:C:G
- Gene:
- NR4A1 (Varview), LOC124902934 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS: