Links from Gene
Items: 1 to 20 of 1748
1.
rs1491576686 has merged into rs369672125 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TGTGTG>-,TG,TGTG,TGTGTGTG
[Show Flanks]
- Chromosome:
- 7:36096232
(GRCh38)
7:36135842
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTGTG,NC_000007.14:36096225:TGTGTGTGTGTG:TGTGTGTGTGTGTG
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTG=0./0
(
ALFA)
-=0.00011/2
(TOMMO)
-=0.00216/8
(TWINSUK)
-=0.00441/17
(ALSPAC)
- HGVS:
3.
rs1490874991 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:36100304
(GRCh38)
7:36139914
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36100303:G:A
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490385164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:36099817
(GRCh38)
7:36139427
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36099816:A:G
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1489113370 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:36100962
(GRCh38)
7:36140572
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36100961:T:G
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_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:
6.
rs1488657239 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 7:36097827
(GRCh38)
7:36137437
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36097826:AA:A
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000156/1
(1000Genomes)
- HGVS:
7.
rs1488506990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:36097307
(GRCh38)
7:36136917
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36097306:G:A
- Gene:
- LOC101928618 (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:
8.
rs1488059355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:36098740
(GRCh38)
7:36138350
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36098739:G:A
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1487664322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:36094893
(GRCh38)
7:36134503
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36094892:G:A
- Gene:
- LOC101928618 (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=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487440109 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:36098399
(GRCh38)
7:36138009
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36098398:C:T
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
12.
rs1487148497 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 7:36094394
(GRCh38)
7:36134004
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36094393:T:C,NC_000007.14:36094393:T:G
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0038/7
(Korea1K)
- HGVS:
13.
rs1486795214 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 7:36095943
(GRCh38)
7:36135554
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36095943:T:TT
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000023/6
(TOPMED)
- HGVS:
14.
rs1486165095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:36095626
(GRCh38)
7:36135236
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36095625:G:A,NC_000007.14:36095625:G:T
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000036/5
(GnomAD)
- HGVS:
15.
rs1485581599 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:36101046
(GRCh38)
7:36140656
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36101045:A:G
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1485527814 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:36096417
(GRCh38)
7:36136027
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36096416:T:C
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
17.
rs1485476068 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:36097442
(GRCh38)
7:36137052
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36097441:C:T
- Gene:
- LOC101928618 (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.
rs1484617032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 7:36095601
(GRCh38)
7:36135211
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36095600:G:A,NC_000007.14:36095600:G:T
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
20.
rs1484491227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 7:36096921
(GRCh38)
7:36136531
(GRCh37)
- Canonical SPDI:
- NC_000007.14:36096920:G:C
- Gene:
- LOC101928618 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS: