Links from Gene
Items: 1 to 20 of 1000
1.
rs1491571834 has merged into rs72247833 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:18324890
(GRCh38)
19:18435700
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:18324881:TTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.18324890_18324893del, NC_000019.10:g.18324891_18324893del, NC_000019.10:g.18324892_18324893del, NC_000019.10:g.18324893del, NC_000019.10:g.18324893dup, NC_000019.10:g.18324892_18324893dup, NC_000019.10:g.18324891_18324893dup, NC_000019.10:g.18324890_18324893dup, NC_000019.10:g.18324889_18324893dup, NC_000019.10:g.18324888_18324893dup, NC_000019.10:g.18324887_18324893dup, NC_000019.9:g.18435700_18435703del, NC_000019.9:g.18435701_18435703del, NC_000019.9:g.18435702_18435703del, NC_000019.9:g.18435703del, NC_000019.9:g.18435703dup, NC_000019.9:g.18435702_18435703dup, NC_000019.9:g.18435701_18435703dup, NC_000019.9:g.18435700_18435703dup, NC_000019.9:g.18435699_18435703dup, NC_000019.9:g.18435698_18435703dup, NC_000019.9:g.18435697_18435703dup
2.
rs1490977325 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 19:18324027
(GRCh38)
19:18434837
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18324021:TGTGTGT:TGTGT
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
4.
rs1490305450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 19:18317443
(GRCh38)
19:18428253
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18317442:C:G
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490272355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:18313989
(GRCh38)
19:18424799
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18313988:T:G
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490026366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:18310279
(GRCh38)
19:18421089
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18310278:T:C
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489685312 has merged into rs56871762 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATAT>-,AT,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT
[Show Flanks]
- Chromosome:
- 19:18324875
(GRCh38)
19:18435685
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATATAT,NC_000019.10:18324861:TATATATATATATATATATAT:TATATATATATATATATATATATATATAT
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATAT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000019.10:g.18324863AT[6], NC_000019.10:g.18324863AT[7], NC_000019.10:g.18324863AT[8], NC_000019.10:g.18324863AT[9], NC_000019.10:g.18324863AT[11], NC_000019.10:g.18324863AT[12], NC_000019.10:g.18324863AT[13], NC_000019.10:g.18324863AT[14], NC_000019.9:g.18435673AT[6], NC_000019.9:g.18435673AT[7], NC_000019.9:g.18435673AT[8], NC_000019.9:g.18435673AT[9], NC_000019.9:g.18435673AT[11], NC_000019.9:g.18435673AT[12], NC_000019.9:g.18435673AT[13], NC_000019.9:g.18435673AT[14]
8.
rs1489180256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:18317772
(GRCh38)
19:18428582
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18317771:C:A
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489118508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18308682
(GRCh38)
19:18419492
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18308681:C:T
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
- HGVS:
10.
rs1488731338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18315221
(GRCh38)
19:18426031
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18315220:G:A
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
11.
rs1488519101 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:18314422
(GRCh38)
19:18425232
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18314421:G:T
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
12.
rs1488342927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18311882
(GRCh38)
19:18422692
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18311881:G:A
- Gene:
- LSM4 (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:
13.
rs1488036319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:18323539
(GRCh38)
19:18434349
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18323538:G:A
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1487826289 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:18312350
(GRCh38)
19:18423160
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18312349:A:C
- Gene:
- LSM4 (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:
15.
rs1487458670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 19:18320175
(GRCh38)
19:18430985
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18320174:A:T
- Gene:
- LSM4 (Varview), LOC105372300 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1487231820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 19:18307081
(GRCh38)
19:18417891
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18307080:T:A,NC_000019.10:18307080:T:C
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000019.10:g.18307081T>A, NC_000019.10:g.18307081T>C, NC_000019.9:g.18417891T>A, NC_000019.9:g.18417891T>C, NM_012321.5:c.*383A>T, NM_012321.5:c.*383A>G, NM_012321.4:c.*383A>T, NM_012321.4:c.*383A>G, NM_001252129.2:c.*383A>T, NM_001252129.2:c.*383A>G, NM_001252129.1:c.*383A>T, NM_001252129.1:c.*383A>G
18.
rs1487228625 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:18308260
(GRCh38)
19:18419070
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18308259:C:T
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.00005/7
(GnomAD)
- HGVS:
19.
rs1486967441 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 19:18306745
(GRCh38)
19:18417555
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18306744:TTTT:TTT
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1486952717 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 19:18306669
(GRCh38)
19:18417479
(GRCh37)
- Canonical SPDI:
- NC_000019.10:18306668:A:C
- Gene:
- LSM4 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS: