Links from Gene
Items: 1 to 20 of 1000
2.
rs1491120145 has merged into rs59202184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATTCCATAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 4:83459154
(GRCh38)
4:84380307
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:83459144:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATTCCATAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
AAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000004.12:g.83459154_83459168del, NC_000004.12:g.83459155_83459168del, NC_000004.12:g.83459156_83459168del, NC_000004.12:g.83459157_83459168del, NC_000004.12:g.83459158_83459168del, NC_000004.12:g.83459159_83459168del, NC_000004.12:g.83459160_83459168del, NC_000004.12:g.83459161_83459168del, NC_000004.12:g.83459162_83459168del, NC_000004.12:g.83459163_83459168del, NC_000004.12:g.83459164_83459168del, NC_000004.12:g.83459165_83459168del, NC_000004.12:g.83459166_83459168del, NC_000004.12:g.83459167_83459168del, NC_000004.12:g.83459168del, NC_000004.12:g.83459168dup, NC_000004.12:g.83459167_83459168dup, NC_000004.12:g.83459166_83459168dup, NC_000004.12:g.83459165_83459168dup, NC_000004.12:g.83459164_83459168dup, NC_000004.12:g.83459163_83459168dup, NC_000004.12:g.83459162_83459168dup, NC_000004.12:g.83459157_83459168dup, NC_000004.12:g.83459152_83459168dup, NC_000004.12:g.83459151_83459168dup, NC_000004.12:g.83459145_83459168dup, NC_000004.12:g.83459168_83459169insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.83459168_83459169insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.83459145_83459168A[27]TTCCATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.84380307_84380321del, NC_000004.11:g.84380308_84380321del, NC_000004.11:g.84380309_84380321del, NC_000004.11:g.84380310_84380321del, NC_000004.11:g.84380311_84380321del, NC_000004.11:g.84380312_84380321del, NC_000004.11:g.84380313_84380321del, NC_000004.11:g.84380314_84380321del, NC_000004.11:g.84380315_84380321del, NC_000004.11:g.84380316_84380321del, NC_000004.11:g.84380317_84380321del, NC_000004.11:g.84380318_84380321del, NC_000004.11:g.84380319_84380321del, NC_000004.11:g.84380320_84380321del, NC_000004.11:g.84380321del, NC_000004.11:g.84380321dup, NC_000004.11:g.84380320_84380321dup, NC_000004.11:g.84380319_84380321dup, NC_000004.11:g.84380318_84380321dup, NC_000004.11:g.84380317_84380321dup, NC_000004.11:g.84380316_84380321dup, NC_000004.11:g.84380315_84380321dup, NC_000004.11:g.84380310_84380321dup, NC_000004.11:g.84380305_84380321dup, NC_000004.11:g.84380304_84380321dup, NC_000004.11:g.84380298_84380321dup, NC_000004.11:g.84380321_84380322insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.84380321_84380322insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.84380298_84380321A[27]TTCCATAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_051599.1:g.31020_31034del, NG_051599.1:g.31021_31034del, NG_051599.1:g.31022_31034del, NG_051599.1:g.31023_31034del, NG_051599.1:g.31024_31034del, NG_051599.1:g.31025_31034del, NG_051599.1:g.31026_31034del, NG_051599.1:g.31027_31034del, NG_051599.1:g.31028_31034del, NG_051599.1:g.31029_31034del, NG_051599.1:g.31030_31034del, NG_051599.1:g.31031_31034del, NG_051599.1:g.31032_31034del, NG_051599.1:g.31033_31034del, NG_051599.1:g.31034del, NG_051599.1:g.31034dup, NG_051599.1:g.31033_31034dup, NG_051599.1:g.31032_31034dup, NG_051599.1:g.31031_31034dup, NG_051599.1:g.31030_31034dup, NG_051599.1:g.31029_31034dup, NG_051599.1:g.31028_31034dup, NG_051599.1:g.31023_31034dup, NG_051599.1:g.31018_31034dup, NG_051599.1:g.31017_31034dup, NG_051599.1:g.31011_31034dup, NG_051599.1:g.31034_31035insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051599.1:g.31034_31035insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051599.1:g.31011_31034T[25]ATGGAATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
3.
rs1490954928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:83456522
(GRCh38)
4:84377675
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83456521:A:G
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
4.
rs1490748844 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:83456862
(GRCh38)
4:84378015
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83456861:C:T
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000224/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
5.
rs1490740862 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:83458976
(GRCh38)
4:84380129
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83458975:T:A
- Gene:
- MRPS18C (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
7.
rs1490617272 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 4:83455917
(GRCh38)
4:84377070
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83455916:G:A,NC_000004.12:83455916:G:C
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000071/1
(TOMMO)
- HGVS:
8.
rs1490440991 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAG>-
[Show Flanks]
- Chromosome:
- 4:83457603
(GRCh38)
4:84378756
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83457599:AAGAAAG:AAG
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
9.
rs1490266368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:83460193
(GRCh38)
4:84381346
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83460192:T:C
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489857512 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTTT>-
[Show Flanks]
- Chromosome:
- 4:83457259
(GRCh38)
4:84378412
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83457256:TTGTTT:TT
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.00035/6
(TOMMO)
- HGVS:
11.
rs1489457769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 4:83456244
(GRCh38)
4:84377397
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83456241:AGAG:AG
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489157750 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 4:83457309
(GRCh38)
4:84378462
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83457308:T:A
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
13.
rs1488844139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 4:83454688
(GRCh38)
4:84375841
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83454687:A:C
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0./0
(GnomAD)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1488627822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:83461258
(GRCh38)
4:84382411
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83461257:C:G
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000004.12:g.83461258C>G, NC_000004.11:g.84382411C>G, NG_051599.1:g.28921G>C, NM_139076.3:c.*1211G>C, NM_139076.2:c.*1211G>C, NM_001345962.2:c.*1211G>C, NM_001345962.1:c.*1211G>C, NM_016067.4:c.*61C>G, NM_016067.3:c.*61C>G, NM_016067.2:c.*61C>G, NM_001297769.2:c.*141C>G, NM_001297769.1:c.*141C>G, NM_001297767.2:c.*61C>G, NM_001297767.1:c.*61C>G, NM_001297770.2:c.*141C>G, NM_001297770.1:c.*141C>G
15.
rs1487455174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:83454681
(GRCh38)
4:84375834
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83454680:C:T
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
16.
rs1486618837 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 4:83461236
(GRCh38)
4:84382390
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83461236::CT
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
CT=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000004.12:g.83461236_83461237insCT, NC_000004.11:g.84382389_84382390insCT, NG_051599.1:g.28942_28943insAG, NM_139076.3:c.*1232_*1233insAG, NM_139076.2:c.*1232_*1233insAG, NM_001345962.2:c.*1232_*1233insAG, NM_001345962.1:c.*1232_*1233insAG, NM_016067.4:c.*39_*40insCT, NM_016067.3:c.*39_*40insCT, NM_016067.2:c.*39_*40insCT, NM_001297769.2:c.*119_*120insCT, NM_001297769.1:c.*119_*120insCT, NM_001297767.2:c.*39_*40insCT, NM_001297767.1:c.*39_*40insCT, NM_001297770.2:c.*119_*120insCT, NM_001297770.1:c.*119_*120insCT
17.
rs1486566710 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:83456190
(GRCh38)
4:84377343
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83456189:T:C
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(GnomAD_exomes)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1485888053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 4:83456342
(GRCh38)
4:84377495
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83456341:C:G
- Gene:
- MRPS18C (Varview), HELQ (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485688778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:83459866
(GRCh38)
4:84381019
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83459865:A:G
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485668325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:83459298
(GRCh38)
4:84380451
(GRCh37)
- Canonical SPDI:
- NC_000004.12:83459297:T:C
- Gene:
- MRPS18C (Varview), ABRAXAS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
C=0.001203/20
(TOMMO)
- HGVS: