Links from Gene
Items: 1 to 20 of 2169
1.
rs1489700446 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75775951
(GRCh38)
17:73772032
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75775950:C:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
2.
rs1489136868 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 17:75781592
(GRCh38)
17:73777673
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75781591:T:A
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
3.
rs1488963892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75781445
(GRCh38)
17:73777526
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75781444:G:A
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
4.
rs1488446196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:75777791
(GRCh38)
17:73773872
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75777790:A:G
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1488167646 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 17:75780125
(GRCh38)
17:73776206
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75780124:A:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
7.
rs1487498524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GTCTTG
[Show Flanks]
- Chromosome:
- 17:75781172
(GRCh38)
17:73777254
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75781172:TGGTCTTG:TGGTCTTGGTCTTG
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGGTCTTGGTCTTG=0./0
(
ALFA)
TGGTCT=0.000008/2
(TOPMED)
TGGTCT=0.000014/2
(GnomAD)
- HGVS:
9.
rs1487232664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75777123
(GRCh38)
17:73773204
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75777122:G:A
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1486868314 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75781674
(GRCh38)
17:73777755
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75781673:C:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000022/3
(GnomAD)
- HGVS:
11.
rs1486830852 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTCAT>-
[Show Flanks]
- Chromosome:
- 17:75780270
(GRCh38)
17:73776351
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75780268:TTTCAT:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1486517462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75776850
(GRCh38)
17:73772931
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75776849:G:A
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1485974919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:75778233
(GRCh38)
17:73774314
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75778232:A:G
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1485973760 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:75781666
(GRCh38)
17:73777747
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75781665:G:A
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
A=0.000015/4
(TOPMED)
- HGVS:
15.
rs1485861634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75780804
(GRCh38)
17:73776885
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75780803:C:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1485438074 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:75778317
(GRCh38)
17:73774398
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75778316:C:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485192131 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:75779885
(GRCh38)
17:73775966
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75779884:C:G,NC_000017.11:75779884:C:T
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000019/5
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
19.
rs1484665778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:75776041
(GRCh38)
17:73772122
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75776040:T:C
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
20.
rs1483815825 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 17:75777171
(GRCh38)
17:73773252
(GRCh37)
- Canonical SPDI:
- NC_000017.11:75777170:TG:
- Gene:
- H3-3B (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.00003/8
(TOPMED)
- HGVS: