Links from Gene
Items: 1 to 20 of 1000
2.
rs1491437403 has merged into rs1475932098 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAA,AAAAAAA
[Show Flanks]
- Chromosome:
- 12:69651776
(GRCh38)
12:70045556
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69651775:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:69651775:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:69651775:AAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:69651775:AAAAAAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0.02318/336
(
ALFA)
-=0.02399/399
(TOMMO)
-=0.02634/48
(Korea1K)
-=0.04811/28
(NorthernSweden)
- HGVS:
3.
rs1491247273 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C,CTC
[Show Flanks]
- Chromosome:
- 12:69701023
(GRCh38)
12:70094804
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69701023::C,NC_000012.12:69701023::CTC
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000551/9
(
ALFA)
C=0.000004/1
(TOPMED)
CTC=0.000008/1
(GnomAD)
C=0.000781/5
(1000Genomes)
C=0.001667/1
(NorthernSweden)
- HGVS:
4.
rs1491210446 has merged into rs1555207049 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:69680325
(GRCh38)
12:70074105
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:69680310:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.69680325_69680327del, NC_000012.12:g.69680326_69680327del, NC_000012.12:g.69680327del, NC_000012.12:g.69680327dup, NC_000012.12:g.69680325_69680327dup, NC_000012.12:g.69680324_69680327dup, NC_000012.12:g.69680322_69680327dup, NC_000012.12:g.69680321_69680327dup, NC_000012.12:g.69680320_69680327dup, NC_000012.12:g.69680314_69680327dup, NC_000012.12:g.69680313_69680327dup, NC_000012.12:g.69680311_69680327dup, NC_000012.12:g.69680327_69680328insTTTTTTTTTTTTTTTTTT, NC_000012.12:g.69680327_69680328insTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.69680327_69680328insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.70074105_70074107del, NC_000012.11:g.70074106_70074107del, NC_000012.11:g.70074107del, NC_000012.11:g.70074107dup, NC_000012.11:g.70074105_70074107dup, NC_000012.11:g.70074104_70074107dup, NC_000012.11:g.70074102_70074107dup, NC_000012.11:g.70074101_70074107dup, NC_000012.11:g.70074100_70074107dup, NC_000012.11:g.70074094_70074107dup, NC_000012.11:g.70074093_70074107dup, NC_000012.11:g.70074091_70074107dup, NC_000012.11:g.70074107_70074108insTTTTTTTTTTTTTTTTTT, NC_000012.11:g.70074107_70074108insTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.70074107_70074108insTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1491168068 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 12:69701024
(GRCh38)
12:70094804
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69701022:TTT:T
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00006/1
(TOMMO)
- HGVS:
6.
rs1491049266 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:69693276
(GRCh38)
12:70087056
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69693275:TG:
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000169/2
(
ALFA)
-=0.00003/4
(GnomAD)
- HGVS:
7.
rs1490912479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:69686531
(GRCh38)
12:70080311
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69686530:T:C
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490877783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:69689990
(GRCh38)
12:70083770
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69689989:A:G
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490871267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:69685431
(GRCh38)
12:70079211
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69685430:C:T
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490821813 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 12:69694027
(GRCh38)
12:70087807
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69694026:A:G,NC_000012.12:69694026:A:T
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490796091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:69678919
(GRCh38)
12:70072699
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69678918:G:A
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490690834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:69661442
(GRCh38)
12:70055222
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69661441:C:G,NC_000012.12:69661441:C:T
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
13.
rs1490641506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:69694657
(GRCh38)
12:70088437
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69694656:T:C
- Gene:
- BEST3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490553784 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:69659380
(GRCh38)
12:70053160
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69659379:G:A
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490499373 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 12:69654682
(GRCh38)
12:70048462
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69654681:C:G
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000054/1
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.000036/5
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
NC_000012.12:g.69654682C>G, NC_000012.11:g.70048462C>G, NM_152439.4:c.*225G>C, NM_152439.3:c.*225G>C, NM_152439.2:c.*225G>C, NM_032735.3:c.*225G>C, NM_032735.2:c.*225G>C, XM_011537962.3:c.*225G>C, XM_011537962.2:c.*225G>C, XM_011537962.1:c.*225G>C, XM_011537965.3:c.*225G>C, XM_011537965.2:c.*225G>C, XM_011537965.1:c.*225G>C, NM_001282613.2:c.*225G>C, NM_001282613.1:c.*225G>C, XM_011537961.2:c.*225G>C, XM_011537961.1:c.*225G>C, XM_011537963.2:c.*225G>C, XM_011537963.1:c.*225G>C, XM_047428376.1:c.*225G>C, XM_047428378.1:c.*225G>C, XM_047428379.1:c.*225G>C
17.
rs1490485982 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 12:69669905
(GRCh38)
12:70063685
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69669904:T:C,NC_000012.12:69669904:T:G
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1490456718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:69652128
(GRCh38)
12:70045908
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69652127:C:T
- Gene:
- BEST3 (Varview), LOC105369823 (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:
19.
rs1490439701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 12:69668746
(GRCh38)
12:70062526
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69668745:A:C,NC_000012.12:69668745:A:G
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1490323132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:69669313
(GRCh38)
12:70063093
(GRCh37)
- Canonical SPDI:
- NC_000012.12:69669312:T:C
- Gene:
- BEST3 (Varview), LOC105369823 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000034/9
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS: