Links from Gene
Items: 1 to 20 of 10323
1.
rs1491078794 has merged into rs11330534 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAA>-,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:57570939
(GRCh38)
5:56866766
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57570935:AAAAAAAAAAAAA:AAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:57570935:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAA=0./0
(
ALFA)
-=0.3754/1880
(1000Genomes)
-=0.4031/237
(NorthernSweden)
-=0.4567/1760
(ALSPAC)
-=0.4622/1714
(TWINSUK)
- HGVS:
NC_000005.10:g.57570939_57570948del, NC_000005.10:g.57570946_57570948del, NC_000005.10:g.57570947_57570948del, NC_000005.10:g.57570948del, NC_000005.10:g.57570948dup, NC_000005.10:g.57570947_57570948dup, NC_000005.10:g.57570946_57570948dup, NC_000005.10:g.57570941_57570948dup, NC_000005.9:g.56866766_56866775del, NC_000005.9:g.56866773_56866775del, NC_000005.9:g.56866774_56866775del, NC_000005.9:g.56866775del, NC_000005.9:g.56866775dup, NC_000005.9:g.56866774_56866775dup, NC_000005.9:g.56866773_56866775dup, NC_000005.9:g.56866768_56866775dup
2.
rs1490965805 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 5:57575090
(GRCh38)
5:56870917
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57575089:T:A
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490897509 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:57613812
(GRCh38)
5:56909639
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57613811:T:G
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490859566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:57616150
(GRCh38)
5:56911977
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57616149:T:C
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490792717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 5:57577219
(GRCh38)
5:56873046
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57577218:T:A,NC_000005.10:57577218:T:C
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490787153 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:57608925
(GRCh38)
5:56904752
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57608924:C:T
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1490777069 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:57574549
(GRCh38)
5:56870376
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57574548:T:C
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490712408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:57593576
(GRCh38)
5:56889403
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57593575:A:G
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490671429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:57595970
(GRCh38)
5:56891797
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57595969:C:T
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
10.
rs1490536629 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:57606226
(GRCh38)
5:56902053
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57606225:G:A
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
11.
rs1490530665 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATAAT>-
[Show Flanks]
- Chromosome:
- 5:57575833
(GRCh38)
5:56871660
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57575828:TAATGATAAT:TAAT
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAAT=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000019/5
(TOPMED)
- HGVS:
12.
rs1490523628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:57591970
(GRCh38)
5:56887797
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57591969:T:G
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490423223 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:57610286
(GRCh38)
5:56906113
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57610285:T:C
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
14.
rs1490212965 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:57594147
(GRCh38)
5:56889974
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57594146:C:T
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1490187674 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:57592989
(GRCh38)
5:56888816
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57592988:G:A
- Gene:
- LNCBRM (Varview), LOC124901182 (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:
16.
rs1490151006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:57584677
(GRCh38)
5:56880504
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57584676:T:C
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490120388 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:57585912
(GRCh38)
5:56881739
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57585911:C:T
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490081356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:57568422
(GRCh38)
5:56864249
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57568421:A:G
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1490080701 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:57614992
(GRCh38)
5:56910819
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57614991:A:G
- Gene:
- LNCBRM (Varview), LOC124901182 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
20.
rs1489960877 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:57575829
(GRCh38)
5:56871656
(GRCh37)
- Canonical SPDI:
- NC_000005.10:57575828:T:C
- Gene:
- LNCBRM (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: