Links from Gene
Items: 1 to 20 of 7171
1.
rs1491339133 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TG
[Show Flanks]
- Chromosome:
- 14:51358595
(GRCh38)
14:51825314
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51358595:G:GTG
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GTG=0./0
(
ALFA)
GT=0.00006/3
(GnomAD)
GT=0.00007/2
(TOMMO)
- HGVS:
2.
rs1491290597 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 14:51365695
(GRCh38)
14:51832414
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51365695:TGTGTGTGTGTGT:TGTGTGTGTGTGTATGTGTGTGTGTGT
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TGTGTGTGTGTGTATGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTGTGTA=0.000009/1
(GnomAD)
- HGVS:
3.
rs1491263163 has merged into rs11335873 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:51356917
(GRCh38)
14:51823635
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:51356906:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.1356/679
(1000Genomes)
- HGVS:
NC_000014.9:g.51356917_51356929del, NC_000014.9:g.51356918_51356929del, NC_000014.9:g.51356919_51356929del, NC_000014.9:g.51356924_51356929del, NC_000014.9:g.51356925_51356929del, NC_000014.9:g.51356926_51356929del, NC_000014.9:g.51356927_51356929del, NC_000014.9:g.51356928_51356929del, NC_000014.9:g.51356929del, NC_000014.9:g.51356929dup, NC_000014.9:g.51356928_51356929dup, NC_000014.9:g.51356927_51356929dup, NC_000014.9:g.51356926_51356929dup, NC_000014.9:g.51356925_51356929dup, NC_000014.9:g.51356924_51356929dup, NC_000014.9:g.51356923_51356929dup, NC_000014.9:g.51356922_51356929dup, NC_000014.9:g.51356917_51356929dup, NC_000014.8:g.51823635_51823647del, NC_000014.8:g.51823636_51823647del, NC_000014.8:g.51823637_51823647del, NC_000014.8:g.51823642_51823647del, NC_000014.8:g.51823643_51823647del, NC_000014.8:g.51823644_51823647del, NC_000014.8:g.51823645_51823647del, NC_000014.8:g.51823646_51823647del, NC_000014.8:g.51823647del, NC_000014.8:g.51823647dup, NC_000014.8:g.51823646_51823647dup, NC_000014.8:g.51823645_51823647dup, NC_000014.8:g.51823644_51823647dup, NC_000014.8:g.51823643_51823647dup, NC_000014.8:g.51823642_51823647dup, NC_000014.8:g.51823641_51823647dup, NC_000014.8:g.51823640_51823647dup, NC_000014.8:g.51823635_51823647dup
4.
rs1491205849 has merged into rs199998958 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:51365694
(GRCh38)
14:51832412
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51365692:GCG:G
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.012898/153
(
ALFA)
-=0.000958/16
(TOMMO)
-=0.0033/6
(Korea1K)
-=0.017565/2310
(GnomAD)
-=0.020067/12
(NorthernSweden)
-=0.316613/1174
(TWINSUK)
GC=0.376597/1886
(1000Genomes)
- HGVS:
6.
rs1491052631 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 14:51365690
(GRCh38)
14:51832408
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51365688:GCG:G
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00228/27
(
ALFA)
-=0.01444/1186
(GnomAD)
- HGVS:
8.
rs1490769338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:51336707
(GRCh38)
14:51803425
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51336706:T:C
- Gene:
- LINC00640 (Varview), LOC124900595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
9.
rs1490753615 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:51353222
(GRCh38)
14:51819940
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51353221:G:A,NC_000014.9:51353221:G:C
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
10.
rs1490607209 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:51337308
(GRCh38)
14:51804026
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51337307:A:G
- Gene:
- LINC00640 (Varview), LOC124900595 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490489484 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGTAAGGGCTCAATACAGCTAT>-
[Show Flanks]
- Chromosome:
- 14:51360142
(GRCh38)
14:51826860
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51360138:TATAGTAAGGGCTCAATACAGCTAT:TAT
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490336767 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 14:51359418
(GRCh38)
14:51826136
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51359417:A:T
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000322/5
(
ALFA)
T=0.000228/32
(GnomAD)
T=0.001116/5
(Estonian)
- HGVS:
14.
rs1490311361 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:51356900
(GRCh38)
14:51823618
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51356899:C:T
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000018/2
(GnomAD)
- HGVS:
16.
rs1490149734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:51359035
(GRCh38)
14:51825753
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51359034:T:A
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1490140061 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ACTT>-
[Show Flanks]
- Chromosome:
- 14:51360177
(GRCh38)
14:51826895
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51360173:CTTACTT:CTT
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
19.
rs1489985202 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:51359652
(GRCh38)
14:51826370
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51359651:C:T
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1489822463 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 14:51355745
(GRCh38)
14:51822463
(GRCh37)
- Canonical SPDI:
- NC_000014.9:51355744:A:C
- Gene:
- LINC00640 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: