Links from Gene
Items: 1 to 20 of 5328
2.
rs1490763117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:93926912
(GRCh38)
14:94393258
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93926911:T:C
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490667211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:93925678
(GRCh38)
14:94392024
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93925677:G:C
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
4.
rs1490599793 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:93926560
(GRCh38)
14:94392906
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93926559:T:G
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
5.
rs1490411964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:93917806
(GRCh38)
14:94384152
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93917805:C:G
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
6.
rs1490271262 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AACTGAG
[Show Flanks]
- Chromosome:
- 14:93927083
(GRCh38)
14:94393430
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93927083:GAACTGAG:GAACTGAGAACTGAG
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GAACTGAGAACTGAG=0./0
(
ALFA)
GAACTGA=0.000004/1
(TOPMED)
GAACTGA=0.000012/1
(GnomAD)
- HGVS:
7.
rs1490262026 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 14:93925983
(GRCh38)
14:94392329
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93925982:C:
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
- HGVS:
8.
rs1490256719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:93927832
(GRCh38)
14:94394178
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93927831:G:A
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490079431 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:93904990
(GRCh38)
14:94371336
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93904989:C:T
- Gene:
- FAM181A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490067118 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:93919864
(GRCh38)
14:94386210
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93919863:A:G
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490051533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:93920955
(GRCh38)
14:94387301
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93920954:G:A,NC_000014.9:93920954:G:C
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1489965456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 14:93907220
(GRCh38)
14:94373566
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93907219:C:A,NC_000014.9:93907219:C:G
- Gene:
- FAM181A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489949797 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:93904925
(GRCh38)
14:94371271
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93904924:T:C
- Gene:
- FAM181A-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
14.
rs1489917621 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:93904500
(GRCh38)
14:94370846
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93904499:T:C
- Gene:
- FAM181A-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489889450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 14:93920500
(GRCh38)
14:94386846
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93920499:G:A,NC_000014.9:93920499:G:T
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1489376801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:93913248
(GRCh38)
14:94379594
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93913247:A:G
- Gene:
- FAM181A-AS1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489354322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:93928269
(GRCh38)
14:94394615
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93928268:G:A
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
- HGVS:
NC_000014.9:g.93928269G>A, NT_187601.1:g.1042831G>A, NC_000014.8:g.94394615G>A, NM_138344.5:c.170G>A, NM_138344.4:c.170G>A, NM_001207072.2:c.-17G>A, NM_001207072.1:c.-17G>A, NM_001207073.2:c.-17G>A, NM_001207073.1:c.-17G>A, NM_001207071.2:c.-17G>A, NM_001207071.1:c.-17G>A, NM_001207074.2:c.-17G>A, NM_001207074.1:c.-17G>A, NP_612353.3:p.Cys57Tyr
18.
rs1489329843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:93921435
(GRCh38)
14:94387781
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93921434:A:G
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1489005202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:93922624
(GRCh38)
14:94388970
(GRCh37)
- Canonical SPDI:
- NC_000014.9:93922623:A:G
- Gene:
- FAM181A (Varview), FAM181A-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS: