Links from Gene
Items: 1 to 20 of 1554
2.
rs1490841839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:12130156
(GRCh38)
8:11987665
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12130155:G:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
3.
rs1490756906 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:12129020
(GRCh38)
8:11986529
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12129019:G:A
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000261/35
(GnomAD)
- HGVS:
4.
rs1490539225 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 8:12127510
(GRCh38)
8:11985019
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12127509:T:A
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00031/2
(1000Genomes)
A=0.00038/1
(KOREAN)
A=0.00066/9
(TOMMO)
A=0.00182/3
(Korea1K)
- HGVS:
5.
rs1490353129 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:12129923
(GRCh38)
8:11987432
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12129922:C:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000015/2
(GnomAD)
T=0.000123/2
(TOMMO)
T=0.000382/1
(KOREAN)
- HGVS:
6.
rs1490208463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 8:12128514
(GRCh38)
8:11986023
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12128513:C:A,NC_000008.11:12128513:C:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000041/1
(TOMMO)
T=0.000045/6
(GnomAD)
- HGVS:
7.
rs1488952799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:12129540
(GRCh38)
8:11987049
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12129539:A:G
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488701337 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:12129377
(GRCh38)
8:11986886
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12129376:T:C
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
9.
rs1488336461 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:12128930
(GRCh38)
8:11986439
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12128929:C:G
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000037/5
(GnomAD)
- HGVS:
10.
rs1488171357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 8:12127415
(GRCh38)
8:11984924
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12127414:G:A,NC_000008.11:12127414:G:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.003812/44
(
ALFA)
T=0.001145/3
(KOREAN)
T=0.019636/2574
(GnomAD)
T=0.02436/156
(1000Genomes)
G=0.428571/6
(SGDP_PRJ)
- HGVS:
11.
rs1488085614 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:12131142
(GRCh38)
8:11988651
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12131141:C:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0008/13
(
ALFA)
T=0.00237/35
(TOMMO)
T=0.0042/7
(Korea1K)
T=0.00487/13
(KOREAN)
- HGVS:
12.
rs1488054433 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 8:12130256
(GRCh38)
8:11987765
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12130255:A:C,NC_000008.11:12130255:A:G
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000024/3
(GnomAD)
C=0.000156/1
(1000Genomes)
- HGVS:
14.
rs1487353483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:12129300
(GRCh38)
8:11986809
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12129299:C:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000015/2
(GnomAD)
T=0.000082/1
(TOMMO)
- HGVS:
15.
rs1487199595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 8:12131047
(GRCh38)
8:11988556
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12131046:T:G
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000075/10
(GnomAD)
G=0.000468/3
(1000Genomes)
- HGVS:
17.
rs1486525364 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:12130965
(GRCh38)
8:11988474
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12130964:C:A,NC_000008.11:12130964:C:G,NC_000008.11:12130964:C:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
C=0.5/1
(SGDP_PRJ)
- HGVS:
18.
rs1486200038 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:12130559
(GRCh38)
8:11988068
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12130558:A:G
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00211/25
(
ALFA)
A=0./0
(SGDP_PRJ)
G=0.00177/25
(TOMMO)
G=0.00424/7
(Korea1K)
- HGVS:
19.
rs1485686858 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 8:12128495
(GRCh38)
8:11986004
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12128494:TT:T
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0.000084/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485413737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 8:12128005
(GRCh38)
8:11985514
(GRCh37)
- Canonical SPDI:
- NC_000008.11:12128004:C:A
- Gene:
- LOC392196 (Varview), FAM66D (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000156/1
(1000Genomes)
- HGVS: