Links from Gene
Items: 1 to 20 of 1282
1.
rs1491504657 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 2:113981343
(GRCh38)
2:114738920
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981342:TA:
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00029/5
(TOMMO)
- HGVS:
2.
rs1491349667 has merged into rs71392598 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT
[Show Flanks]
- Chromosome:
- 2:113980542
(GRCh38)
2:114738119
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113980531:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:113980531:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:113980531:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:113980531:TTTTTTTTTTTTT:TTTTTTTTTTTTTT
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
3.
rs1491006517 has merged into rs35967600 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 2:113981328
(GRCh38)
2:114738905
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:113981316:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000002.12:g.113981328_113981343del, NC_000002.12:g.113981329_113981343del, NC_000002.12:g.113981330_113981343del, NC_000002.12:g.113981331_113981343del, NC_000002.12:g.113981332_113981343del, NC_000002.12:g.113981333_113981343del, NC_000002.12:g.113981334_113981343del, NC_000002.12:g.113981335_113981343del, NC_000002.12:g.113981336_113981343del, NC_000002.12:g.113981337_113981343del, NC_000002.12:g.113981338_113981343del, NC_000002.12:g.113981339_113981343del, NC_000002.12:g.113981340_113981343del, NC_000002.12:g.113981341_113981343del, NC_000002.12:g.113981342_113981343del, NC_000002.12:g.113981343del, NC_000002.12:g.113981343dup, NC_000002.12:g.113981342_113981343dup, NC_000002.12:g.113981317_113981343T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.113981341_113981343dup, NC_000002.12:g.113981340_113981343dup, NC_000002.12:g.113981339_113981343dup, NC_000002.12:g.113981338_113981343dup, NC_000002.12:g.113981337_113981343dup, NC_000002.12:g.113981336_113981343dup, NC_000002.12:g.113981335_113981343dup, NC_000002.12:g.113981334_113981343dup, NC_000002.12:g.113981333_113981343dup, NC_000002.12:g.113981332_113981343dup, NC_000002.12:g.113981317_113981343T[39]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.113981331_113981343dup, NC_000002.12:g.113981330_113981343dup, NC_000002.12:g.113981317_113981343T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.113981329_113981343dup, NC_000002.12:g.113981328_113981343dup, NC_000002.12:g.113981327_113981343dup, NC_000002.12:g.113981326_113981343dup, NC_000002.12:g.113981325_113981343dup, NC_000002.12:g.113981324_113981343dup, NC_000002.12:g.113981323_113981343dup, NC_000002.12:g.113981322_113981343dup, NC_000002.12:g.113981321_113981343dup, NC_000002.12:g.113981320_113981343dup, NC_000002.12:g.113981319_113981343dup, NC_000002.12:g.113981318_113981343dup, NC_000002.12:g.113981317_113981343dup, NC_000002.12:g.113981343_113981344insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113981343_113981344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.113981343_113981344insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114738905_114738920del, NC_000002.11:g.114738906_114738920del, NC_000002.11:g.114738907_114738920del, NC_000002.11:g.114738908_114738920del, NC_000002.11:g.114738909_114738920del, NC_000002.11:g.114738910_114738920del, NC_000002.11:g.114738911_114738920del, NC_000002.11:g.114738912_114738920del, NC_000002.11:g.114738913_114738920del, NC_000002.11:g.114738914_114738920del, NC_000002.11:g.114738915_114738920del, NC_000002.11:g.114738916_114738920del, NC_000002.11:g.114738917_114738920del, NC_000002.11:g.114738918_114738920del, NC_000002.11:g.114738919_114738920del, NC_000002.11:g.114738920del, NC_000002.11:g.114738920dup, NC_000002.11:g.114738919_114738920dup, NC_000002.11:g.114738894_114738920T[29]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.114738918_114738920dup, NC_000002.11:g.114738917_114738920dup, NC_000002.11:g.114738916_114738920dup, NC_000002.11:g.114738915_114738920dup, NC_000002.11:g.114738914_114738920dup, NC_000002.11:g.114738913_114738920dup, NC_000002.11:g.114738912_114738920dup, NC_000002.11:g.114738911_114738920dup, NC_000002.11:g.114738910_114738920dup, NC_000002.11:g.114738909_114738920dup, NC_000002.11:g.114738894_114738920T[39]CCTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.114738908_114738920dup, NC_000002.11:g.114738907_114738920dup, NC_000002.11:g.114738894_114738920T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.114738906_114738920dup, NC_000002.11:g.114738905_114738920dup, NC_000002.11:g.114738904_114738920dup, NC_000002.11:g.114738903_114738920dup, NC_000002.11:g.114738902_114738920dup, NC_000002.11:g.114738901_114738920dup, NC_000002.11:g.114738900_114738920dup, NC_000002.11:g.114738899_114738920dup, NC_000002.11:g.114738898_114738920dup, NC_000002.11:g.114738897_114738920dup, NC_000002.11:g.114738896_114738920dup, NC_000002.11:g.114738895_114738920dup, NC_000002.11:g.114738894_114738920dup, NC_000002.11:g.114738920_114738921insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114738920_114738921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.114738920_114738921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1490963495 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:113980409
(GRCh38)
2:114737986
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113980408:G:A
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000447/2
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
7.
rs1490038123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 2:113981307
(GRCh38)
2:114738884
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981306:A:C,NC_000002.12:113981306:A:G,NC_000002.12:113981306:A:T
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
T=0.001606/27
(TOMMO)
T=0.020307/37
(Korea1K)
T=0.066872/195
(KOREAN)
A=0.5/1
(SGDP_PRJ)
- HGVS:
8.
rs1489846804 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113978739
(GRCh38)
2:114736316
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113978738:T:C
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_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:
9.
rs1488965334 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:113977784
(GRCh38)
2:114735361
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113977783:A:C
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488408312 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113977400
(GRCh38)
2:114734977
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113977399:T:C
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000023/6
(TOPMED)
C=0.000036/5
(GnomAD)
- HGVS:
12.
rs1488241749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 2:113981271
(GRCh38)
2:114738849
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981271:T:TT
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1487800451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:113977866
(GRCh38)
2:114735443
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113977865:C:T
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
14.
rs1487602106 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGG>-
[Show Flanks]
- Chromosome:
- 2:113979210
(GRCh38)
2:114736787
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113979200:AGGAGGAGGAGG:AGGAGGAGG
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGGAGGAGG=0.000071/1
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
15.
rs1487255770 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 2:113980116
(GRCh38)
2:114737693
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113980115:C:G,NC_000002.12:113980115:C:T
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000021/3
(GnomAD)
- HGVS:
16.
rs1486818631 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113977514
(GRCh38)
2:114735091
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113977513:T:C
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1486249112 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:113981841
(GRCh38)
2:114739418
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981840:T:C
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1485744889 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:113981699
(GRCh38)
2:114739276
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113981698:A:G
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
19.
rs1485484639 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:113978821
(GRCh38)
2:114736398
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113978820:C:T
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_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:
20.
rs1485298499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:113979550
(GRCh38)
2:114737127
(GRCh37)
- Canonical SPDI:
- NC_000002.12:113979549:A:G
- Gene:
- LINC01191 (Varview), LINC02992 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000029/4
(GnomAD)
- HGVS: