Links from Gene
Items: 1 to 20 of 1000
2.
rs1491341976 has merged into rs66885504 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 1:206094182
(GRCh38)
1:206247144
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:206094169:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTGTGTGTGTGT=0./0
(
ALFA)
-=0.2613/1007
(ALSPAC)
- HGVS:
NC_000001.11:g.206094170GT[6], NC_000001.11:g.206094170GT[9], NC_000001.11:g.206094170GT[10], NC_000001.11:g.206094170GT[11], NC_000001.11:g.206094170GT[12], NC_000001.11:g.206094170GT[13], NC_000001.11:g.206094170GT[14], NC_000001.11:g.206094170GT[16], NC_000001.11:g.206094170GT[17], NC_000001.11:g.206094170GT[18], NC_000001.11:g.206094170GT[19], NC_000001.11:g.206094170GT[20], NC_000001.11:g.206094170GT[21], NC_000001.11:g.206094170GT[22], NC_000001.11:g.206094170GT[23], NC_000001.11:g.206094170GT[24], NC_000001.11:g.206094170GT[25], NC_000001.11:g.206094170GT[26], NC_000001.11:g.206094170GT[27], NW_003871057.1:g.85024GT[6], NW_003871057.1:g.85024GT[9], NW_003871057.1:g.85024GT[10], NW_003871057.1:g.85024GT[11], NW_003871057.1:g.85024GT[12], NW_003871057.1:g.85024GT[13], NW_003871057.1:g.85024GT[14], NW_003871057.1:g.85024GT[16], NW_003871057.1:g.85024GT[17], NW_003871057.1:g.85024GT[18], NW_003871057.1:g.85024GT[19], NW_003871057.1:g.85024GT[20], NW_003871057.1:g.85024GT[21], NW_003871057.1:g.85024GT[22], NW_003871057.1:g.85024GT[23], NW_003871057.1:g.85024GT[24], NW_003871057.1:g.85024GT[25], NW_003871057.1:g.85024GT[26], NW_003871057.1:g.85024GT[27], NC_000001.10:g.206247132AC[7], NC_000001.10:g.206247132AC[10], NC_000001.10:g.206247132AC[11], NC_000001.10:g.206247132AC[12], NC_000001.10:g.206247132AC[13], NC_000001.10:g.206247132AC[14], NC_000001.10:g.206247132AC[15], NC_000001.10:g.206247132AC[17], NC_000001.10:g.206247132AC[18], NC_000001.10:g.206247132AC[19], NC_000001.10:g.206247132AC[20], NC_000001.10:g.206247132AC[21], NC_000001.10:g.206247132AC[22], NC_000001.10:g.206247132AC[23], NC_000001.10:g.206247132AC[24], NC_000001.10:g.206247132AC[25], NC_000001.10:g.206247132AC[26], NC_000001.10:g.206247132AC[27], NC_000001.10:g.206247132AC[28]
3.
rs1491174065 has merged into rs35408708 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:206071560
(GRCh38)
1:206269781
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:206071546:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2294/1149
(1000Genomes)
- HGVS:
NC_000001.11:g.206071560_206071564del, NC_000001.11:g.206071561_206071564del, NC_000001.11:g.206071562_206071564del, NC_000001.11:g.206071563_206071564del, NC_000001.11:g.206071564del, NC_000001.11:g.206071564dup, NC_000001.11:g.206071563_206071564dup, NC_000001.11:g.206071562_206071564dup, NC_000001.11:g.206071561_206071564dup, NC_000001.11:g.206071560_206071564dup, NC_000001.11:g.206071559_206071564dup, NC_000001.11:g.206071558_206071564dup, NC_000001.11:g.206071557_206071564dup, NC_000001.11:g.206071554_206071564dup, NC_000001.11:g.206071552_206071564dup, NC_000001.11:g.206071551_206071564dup, NC_000001.11:g.206071547_206071564dup, NC_000001.11:g.206071564_206071565insAAAAAAAAAAAAAAAAAAAAA, NW_003871057.1:g.62414_62418del, NW_003871057.1:g.62415_62418del, NW_003871057.1:g.62416_62418del, NW_003871057.1:g.62417_62418del, NW_003871057.1:g.62418del, NW_003871057.1:g.62418dup, NW_003871057.1:g.62417_62418dup, NW_003871057.1:g.62416_62418dup, NW_003871057.1:g.62415_62418dup, NW_003871057.1:g.62414_62418dup, NW_003871057.1:g.62413_62418dup, NW_003871057.1:g.62412_62418dup, NW_003871057.1:g.62411_62418dup, NW_003871057.1:g.62408_62418dup, NW_003871057.1:g.62406_62418dup, NW_003871057.1:g.62405_62418dup, NW_003871057.1:g.62401_62418dup, NW_003871057.1:g.62418_62419insAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.206269781_206269785del, NC_000001.10:g.206269782_206269785del, NC_000001.10:g.206269783_206269785del, NC_000001.10:g.206269784_206269785del, NC_000001.10:g.206269785del, NC_000001.10:g.206269785dup, NC_000001.10:g.206269784_206269785dup, NC_000001.10:g.206269783_206269785dup, NC_000001.10:g.206269782_206269785dup, NC_000001.10:g.206269781_206269785dup, NC_000001.10:g.206269780_206269785dup, NC_000001.10:g.206269779_206269785dup, NC_000001.10:g.206269778_206269785dup, NC_000001.10:g.206269775_206269785dup, NC_000001.10:g.206269773_206269785dup, NC_000001.10:g.206269772_206269785dup, NC_000001.10:g.206269768_206269785dup, NC_000001.10:g.206269785_206269786insTTTTTTTTTTTTTTTTTTTTT
4.
rs1491037964 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 1:206081002
(GRCh38)
1:206260330
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206081000:AGA:A
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000169/2
(
ALFA)
-=0.00025/35
(GnomAD)
- HGVS:
5.
rs1491025904 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 1:206096779
(GRCh38)
1:206244550
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206096778:TG:
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.013067/155
(
ALFA)
-=0.023082/3070
(GnomAD)
- HGVS:
6.
rs1490943849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:206090022
(GRCh38)
1:206251311
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206090021:T:C
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490894493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 1:206072850
(GRCh38)
1:206268482
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206072849:G:C,NC_000001.11:206072849:G:T
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00734/110
(
ALFA)
C=0.00002/1
(GnomAD)
T=0.00813/135
(TOMMO)
A=0.11791/345
(KOREAN)
- HGVS:
8.
rs1490830800 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:206058693
(GRCh38)
1:206282678
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206058692:G:A
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
9.
rs1490815196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 1:206057909
(GRCh38)
1:206283462
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206057908:T:C,NC_000001.11:206057908:T:G
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000001.11:g.206057909T>C, NC_000001.11:g.206057909T>G, NW_003871057.1:g.48763T>C, NW_003871057.1:g.48763T>G, NC_000001.10:g.206283462A>G, NC_000001.10:g.206283462A>C, XR_922473.3:n.733A>G, XR_922473.3:n.733A>C, XR_922473.2:n.733A>G, XR_922473.2:n.733A>C, XR_922473.1:n.719A>G, XR_922473.1:n.719A>C
10.
rs1490652922 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:206058285
(GRCh38)
1:206283086
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206058284:G:A
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000076/20
(TOPMED)
A=0.000078/11
(GnomAD)
T=0.000342/1
(KOREAN)
- HGVS:
11.
rs1490551143 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:206097174
(GRCh38)
1:206244157
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206097173:G:A
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
12.
rs1490528823 has merged into rs781887536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:206081454
(GRCh38)
1:206259874
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206081453:AAAAA:AAAA
- Gene:
- RHEX (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAA=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.00003/8
(TOPMED)
-=0.025/1
(GENOME_DK)
- HGVS:
13.
rs1490481619 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTT>-
[Show Flanks]
- Chromosome:
- 1:206080492
(GRCh38)
1:206260839
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206080490:TGTT:T
- Gene:
- RHEX (Varview), LOC124900428 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000356/5
(
ALFA)
-=0.000171/24
(GnomAD)
-=0.000291/77
(TOPMED)
- HGVS:
14.
rs1490470019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 1:206064956
(GRCh38)
1:206276376
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206064955:C:A,NC_000001.11:206064955:C:T
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
15.
rs1490418642 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:206064434
(GRCh38)
1:206276937
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206064433:A:G
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.03229/383
(
ALFA)
C=0.07293/208
(KOREAN)
- HGVS:
16.
rs1490396039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:206052593
(GRCh38)
1:206288777
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206052592:A:C
- Gene:
- RHEX (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490370097 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:206051534
(GRCh38)
1:206289834
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206051533:A:G
- Gene:
- RHEX (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1490310494 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:206070582
(GRCh38)
1:206270750
(GRCh37)
- Canonical SPDI:
- NC_000001.11:206070581:C:T
- Gene:
- RHEX (Varview), LOC105372857 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS: