Links from Gene
Items: 1 to 20 of 3921
1.
rs1491131333 has merged into rs11291039 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:31637653
(GRCh38)
1:32103254
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:31637643:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
- HGVS:
NC_000001.11:g.31637653_31637667del, NC_000001.11:g.31637654_31637667del, NC_000001.11:g.31637655_31637667del, NC_000001.11:g.31637657_31637667del, NC_000001.11:g.31637658_31637667del, NC_000001.11:g.31637659_31637667del, NC_000001.11:g.31637660_31637667del, NC_000001.11:g.31637661_31637667del, NC_000001.11:g.31637662_31637667del, NC_000001.11:g.31637663_31637667del, NC_000001.11:g.31637664_31637667del, NC_000001.11:g.31637665_31637667del, NC_000001.11:g.31637666_31637667del, NC_000001.11:g.31637667del, NC_000001.11:g.31637667dup, NC_000001.11:g.31637666_31637667dup, NC_000001.11:g.31637665_31637667dup, NC_000001.11:g.31637663_31637667dup, NC_000001.10:g.32103254_32103268del, NC_000001.10:g.32103255_32103268del, NC_000001.10:g.32103256_32103268del, NC_000001.10:g.32103258_32103268del, NC_000001.10:g.32103259_32103268del, NC_000001.10:g.32103260_32103268del, NC_000001.10:g.32103261_32103268del, NC_000001.10:g.32103262_32103268del, NC_000001.10:g.32103263_32103268del, NC_000001.10:g.32103264_32103268del, NC_000001.10:g.32103265_32103268del, NC_000001.10:g.32103266_32103268del, NC_000001.10:g.32103267_32103268del, NC_000001.10:g.32103268del, NC_000001.10:g.32103268dup, NC_000001.10:g.32103267_32103268dup, NC_000001.10:g.32103266_32103268dup, NC_000001.10:g.32103264_32103268dup
2.
rs1491124665 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:31637643
(GRCh38)
1:32103244
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31637642:CA:
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.02723/323
(
ALFA)
-=0.00116/31
(TOMMO)
- HGVS:
3.
rs1491031723 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:31637666
(GRCh38)
1:32103268
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31637666::G
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000033/4
(GnomAD)
- HGVS:
4.
rs1490918302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31645585
(GRCh38)
1:32111186
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31645584:A:G
- Gene:
- PEF1 (Varview), PEF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490868690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:31629860
(GRCh38)
1:32095461
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31629859:T:C
- Gene:
- HCRTR1 (Varview), PEF1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
6.
rs1490784581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 1:31637247
(GRCh38)
1:32102848
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31637246:A:C
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490768653 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31638243
(GRCh38)
1:32103844
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31638242:A:G
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490400466 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:31646210
(GRCh38)
1:32111811
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31646209:T:C
- Gene:
- PEF1 (Varview), PEF1-AS1 (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
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490377507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31629368
(GRCh38)
1:32094969
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31629367:A:G
- Gene:
- HCRTR1 (Varview), PEF1 (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489966454 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAGA>-
[Show Flanks]
- Chromosome:
- 1:31637665
(GRCh38)
1:32103266
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31637663:AAAAGA:A
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1489950652 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:31638751
(GRCh38)
1:32104352
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31638750:C:T
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489675768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 1:31645731
(GRCh38)
1:32111332
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31645730:A:G,NC_000001.11:31645730:A:T
- Gene:
- PEF1 (Varview), PEF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.0002/3
(
ALFA)
G=0.00067/3
(Estonian)
- HGVS:
13.
rs1489593828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:31642069
(GRCh38)
1:32107670
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31642068:T:C
- Gene:
- PEF1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
15.
rs1489388439 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:31634261
(GRCh38)
1:32099862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31634260:G:A
- Gene:
- HCRTR1 (Varview), PEF1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
16.
rs1489013434 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:31643358
(GRCh38)
1:32108959
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31643357:C:T
- Gene:
- PEF1 (Varview), PEF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1488983029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:31644493
(GRCh38)
1:32110094
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31644492:C:A
- Gene:
- PEF1 (Varview), PEF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000019/5
(TOPMED)
- HGVS:
18.
rs1488782861 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:31643293
(GRCh38)
1:32108894
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31643292:A:G
- Gene:
- PEF1 (Varview), PEF1-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488439627 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:31633234
(GRCh38)
1:32098835
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31633233:T:C
- Gene:
- HCRTR1 (Varview), PEF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.31633234T>C, NC_000001.10:g.32098835T>C, NM_012392.4:c.406A>G, NM_012392.3:c.406A>G, XM_011541746.3:c.196A>G, XM_011541746.2:c.196A>G, XM_011541746.1:c.196A>G, XM_011541745.2:c.391A>G, XM_011541745.1:c.391A>G, XM_017001107.2:c.*716T>C, NM_001359651.2:c.196A>G, NM_001359651.1:c.196A>G, XM_017001680.2:c.196A>G, XM_017001680.1:c.196A>G, XM_011541747.2:c.196A>G, XM_011541747.1:c.196A>G, NR_033686.2:n.117A>G, NR_033686.1:n.478A>G, NR_033688.1:n.620A>G, NP_036524.1:p.Met136Val, XP_011540048.1:p.Met66Val, XP_011540047.1:p.Met131Val, NP_001346580.1:p.Met66Val, XP_016857169.1:p.Met66Val, XP_011540049.1:p.Met66Val
20.
rs1488337185 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:31630803
(GRCh38)
1:32096404
(GRCh37)
- Canonical SPDI:
- NC_000001.11:31630802:G:A
- Gene:
- HCRTR1 (Varview), PEF1 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000001.11:g.31630803G>A, NC_000001.10:g.32096404G>A, NM_012392.4:c.665C>T, NM_012392.3:c.665C>T, XM_011541746.3:c.455C>T, XM_011541746.2:c.455C>T, XM_011541746.1:c.455C>T, XM_011541745.2:c.650C>T, XM_011541745.1:c.650C>T, NM_001359651.2:c.455C>T, NM_001359651.1:c.455C>T, XM_017001680.2:c.455C>T, XM_017001680.1:c.455C>T, XM_011541747.2:c.455C>T, XM_011541747.1:c.455C>T, NR_033686.2:n.376C>T, NR_033686.1:n.737C>T, NR_033688.1:n.879C>T, NP_036524.1:p.Thr222Ile, XP_011540048.1:p.Thr152Ile, XP_011540047.1:p.Thr217Ile, NP_001346580.1:p.Thr152Ile, XP_016857169.1:p.Thr152Ile, XP_011540049.1:p.Thr152Ile