Links from Gene
Items: 1 to 20 of 1766
1.
rs1490831536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 20:63552112
(GRCh38)
20:62183465
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63552111:T:G
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000023/6
(TOPMED)
- HGVS:
2.
rs1489525843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63551429
(GRCh38)
20:62182782
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63551428:A:G
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- 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:
3.
rs1489517701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63553772
(GRCh38)
20:62185125
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63553771:C:T
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488307954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63554648
(GRCh38)
20:62186001
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63554647:A:G
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487655049 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63553817
(GRCh38)
20:62185170
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63553816:G:A
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
6.
rs1487571024 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:63555985
(GRCh38)
20:62187338
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63555984:T:C
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000020.11:g.63555985T>C, NC_000020.10:g.62187338T>C, XM_011529041.3:c.322T>C, XM_011529041.2:c.322T>C, XM_011529041.1:c.322T>C, NM_024059.3:c.322T>C, NM_024059.2:c.322T>C, XM_017028060.2:c.337T>C, XM_017028060.1:c.337T>C, NM_001319153.2:c.322T>C, NM_001319153.1:c.322T>C, NM_001319152.2:c.322T>C, NM_001319152.1:c.322T>C, XM_047440467.1:c.391T>C, XM_047440468.1:c.322T>C, XM_047440466.1:c.544T>C, XP_011527343.1:p.Phe108Leu, NP_076964.1:p.Phe108Leu, XP_016883549.1:p.Phe113Leu, NP_001306082.1:p.Phe108Leu, NP_001306081.1:p.Phe108Leu, XP_047296423.1:p.Phe131Leu, XP_047296424.1:p.Phe108Leu, XP_047296422.1:p.Phe182Leu
7.
rs1487336828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:63554863
(GRCh38)
20:62186216
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63554862:G:A,NC_000020.11:63554862:G:C
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,5_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
8.
rs1487297034 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGGAGCCTGCGGTGGG>-,GGGAGCCTGCGGTGGGGGGAGCCTGCGGTGGG
[Show Flanks]
- Chromosome:
- 20:63553651
(GRCh38)
20:62185004
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63553635:GGAGCCTGCGGTGGGGGGAGCCTGCGGTGGG:GGAGCCTGCGGTGGG,NC_000020.11:63553635:GGAGCCTGCGGTGGGGGGAGCCTGCGGTGGG:GGAGCCTGCGGTGGGGGGAGCCTGCGGTGGGGGGAGCCTGCGGTGGG
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGAGCCTGCGGTGGGGGGAGCCTGCGGTGGGGGGAGCCTGCGGTGGG=0./0
(
ALFA)
-=0.00017/9
(GnomAD)
- HGVS:
9.
rs1487050674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63552799
(GRCh38)
20:62184152
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63552798:G:A
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486119044 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 20:63552982
(GRCh38)
20:62184335
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63552981:A:G
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
11.
rs1486036269 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 20:63553337
(GRCh38)
20:62184690
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63553336:C:A
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
12.
rs1485464111 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:63552108
(GRCh38)
20:62183461
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63552107:T:C
- Gene:
- FNDC11 (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:
13.
rs1485382615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 20:63552535
(GRCh38)
20:62183888
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63552534:C:G
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1485128749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 20:63555621
(GRCh38)
20:62186974
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63555620:T:C
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
T=0.5/3
(SGDP_PRJ)
- HGVS:
17.
rs1484431381 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 20:63553421
(GRCh38)
20:62184774
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63553420:G:A,NC_000020.11:63553420:G:C
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1484341215 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 20:63556889
(GRCh38)
20:62188242
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63556888:C:T
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1484270744 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63557192
(GRCh38)
20:62188545
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63557191:G:A
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1484169759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 20:63555996
(GRCh38)
20:62187349
(GRCh37)
- Canonical SPDI:
- NC_000020.11:63555995:G:A
- Gene:
- FNDC11 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000020.11:g.63555996G>A, NC_000020.10:g.62187349G>A, XM_011529041.3:c.333G>A, XM_011529041.2:c.333G>A, XM_011529041.1:c.333G>A, NM_024059.3:c.333G>A, NM_024059.2:c.333G>A, XM_017028060.2:c.348G>A, XM_017028060.1:c.348G>A, NM_001319153.2:c.333G>A, NM_001319153.1:c.333G>A, NM_001319152.2:c.333G>A, NM_001319152.1:c.333G>A, XM_047440467.1:c.402G>A, XM_047440468.1:c.333G>A, XM_047440466.1:c.555G>A, XP_011527343.1:p.Met111Ile, NP_076964.1:p.Met111Ile, XP_016883549.1:p.Met116Ile, NP_001306082.1:p.Met111Ile, NP_001306081.1:p.Met111Ile, XP_047296423.1:p.Met134Ile, XP_047296424.1:p.Met111Ile, XP_047296422.1:p.Met185Ile