Links from Gene
Items: 1 to 20 of 1000
1.
rs1491025081 has merged into rs386375443 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:4438762
(GRCh38)
12:4547928
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:4438751:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.2/8
(GENOME_DK)
AAAA=0.4774/2391
(1000Genomes)
- HGVS:
NC_000012.12:g.4438762_4438778del, NC_000012.12:g.4438764_4438778del, NC_000012.12:g.4438765_4438778del, NC_000012.12:g.4438766_4438778del, NC_000012.12:g.4438767_4438778del, NC_000012.12:g.4438768_4438778del, NC_000012.12:g.4438769_4438778del, NC_000012.12:g.4438770_4438778del, NC_000012.12:g.4438771_4438778del, NC_000012.12:g.4438772_4438778del, NC_000012.12:g.4438773_4438778del, NC_000012.12:g.4438774_4438778del, NC_000012.12:g.4438775_4438778del, NC_000012.12:g.4438776_4438778del, NC_000012.12:g.4438777_4438778del, NC_000012.12:g.4438778del, NC_000012.12:g.4438778dup, NC_000012.12:g.4438777_4438778dup, NC_000012.12:g.4438776_4438778dup, NC_000012.12:g.4438775_4438778dup, NC_000012.12:g.4438774_4438778dup, NC_000012.12:g.4438773_4438778dup, NC_000012.12:g.4438772_4438778dup, NC_000012.12:g.4438771_4438778dup, NC_000012.12:g.4438768_4438778dup, NC_000012.12:g.4438767_4438778dup, NC_000012.11:g.4547928_4547944del, NC_000012.11:g.4547930_4547944del, NC_000012.11:g.4547931_4547944del, NC_000012.11:g.4547932_4547944del, NC_000012.11:g.4547933_4547944del, NC_000012.11:g.4547934_4547944del, NC_000012.11:g.4547935_4547944del, NC_000012.11:g.4547936_4547944del, NC_000012.11:g.4547937_4547944del, NC_000012.11:g.4547938_4547944del, NC_000012.11:g.4547939_4547944del, NC_000012.11:g.4547940_4547944del, NC_000012.11:g.4547941_4547944del, NC_000012.11:g.4547942_4547944del, NC_000012.11:g.4547943_4547944del, NC_000012.11:g.4547944del, NC_000012.11:g.4547944dup, NC_000012.11:g.4547943_4547944dup, NC_000012.11:g.4547942_4547944dup, NC_000012.11:g.4547941_4547944dup, NC_000012.11:g.4547940_4547944dup, NC_000012.11:g.4547939_4547944dup, NC_000012.11:g.4547938_4547944dup, NC_000012.11:g.4547937_4547944dup, NC_000012.11:g.4547934_4547944dup, NC_000012.11:g.4547933_4547944dup
2.
rs1490793372 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4434609
(GRCh38)
12:4543775
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4434608:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490308970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:4440526
(GRCh38)
12:4549692
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4440525:G:A
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
4.
rs1489715136 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4441229
(GRCh38)
12:4550395
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4441228:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
5.
rs1489602268 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 12:4442282
(GRCh38)
12:4551448
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4442281:A:C,NC_000012.12:4442281:A:G,NC_000012.12:4442281:A:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
C=0./0
(Korea1K)
G=0.000008/2
(TOPMED)
- HGVS:
NC_000012.12:g.4442282A>C, NC_000012.12:g.4442282A>G, NC_000012.12:g.4442282A>T, NC_000012.11:g.4551448A>C, NC_000012.11:g.4551448A>G, NC_000012.11:g.4551448A>T, XM_017018996.2:c.*159T>G, XM_017018996.2:c.*159T>C, XM_017018996.2:c.*159T>A, XM_017018996.1:c.*159T>G, XM_017018996.1:c.*159T>C, XM_017018996.1:c.*159T>A
6.
rs1489250610 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:4443744
(GRCh38)
12:4552910
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4443743:G:A,NC_000012.12:4443743:G:C
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000029/4
(GnomAD)
A=0.000177/3
(TOMMO)
- HGVS:
7.
rs1489188204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:4441478
(GRCh38)
12:4550644
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4441477:A:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489164967 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4437727
(GRCh38)
12:4546893
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4437726:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
9.
rs1489079341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:4439400
(GRCh38)
12:4548566
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4439399:C:G,NC_000012.12:4439399:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488604695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:4445476
(GRCh38)
12:4554642
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4445475:A:G
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000012.12:g.4445476A>G, NC_000012.11:g.4554642A>G, NM_020996.3:c.95T>C, NM_020996.2:c.95T>C, NM_020996.1:c.95T>C, XM_017018995.2:c.95T>C, XM_017018995.1:c.95T>C, XM_017018996.2:c.95T>C, XM_017018996.1:c.95T>C, NP_066276.2:p.Val32Ala, XP_016874484.1:p.Val32Ala, XP_016874485.1:p.Val32Ala
11.
rs1488300329 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4444061
(GRCh38)
12:4553227
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4444060:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488195043 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4435075
(GRCh38)
12:4544241
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4435074:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
13.
rs1488001210 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 12:4443814
(GRCh38)
12:4552980
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4443813:C:A
- Gene:
- FGF6 (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:
14.
rs1487768083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:4447661
(GRCh38)
12:4556827
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4447660:T:C
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
15.
rs1487637194 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:4443191
(GRCh38)
12:4552357
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4443190:A:G
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1487596878 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:4436142
(GRCh38)
12:4545308
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4436141:C:G
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487575199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:4444075
(GRCh38)
12:4553241
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4444074:C:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
18.
rs1487180023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 12:4436467
(GRCh38)
12:4545633
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4436466:A:T
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
19.
rs1487002298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:4441512
(GRCh38)
12:4550678
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4441511:A:C
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
20.
rs1486953745 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 12:4446503
(GRCh38)
12:4555669
(GRCh37)
- Canonical SPDI:
- NC_000012.12:4446502:CCC:CC
- Gene:
- FGF6 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS: