Links from Gene
Items: 1 to 20 of 1682
1.
rs1491567276 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GCCC>-,GCCCGCCC,GCCCGCCCGCCC
[Show Flanks]
- Chromosome:
- 5:140108031
(GRCh38)
5:139487616
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108026:GCCCGCCC:GCCC,NC_000005.10:140108026:GCCCGCCC:GCCCGCCCGCCC,NC_000005.10:140108026:GCCCGCCC:GCCCGCCCGCCCGCCC
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GCCCGCCC=0.00006/1
(
ALFA)
-=0.00006/1
(GnomAD)
GCCCGCCC=0.00007/2
(TOMMO)
- HGVS:
NC_000005.10:g.140108027GCCC[1], NC_000005.10:g.140108027GCCC[3], NC_000005.10:g.140108027GCCC[4], NC_000005.9:g.139487612GCCC[1], NC_000005.9:g.139487612GCCC[3], NC_000005.9:g.139487612GCCC[4], XM_047417990.1:c.*25GGGC[1], XM_047417990.1:c.*25GGGC[3], XM_047417990.1:c.*25GGGC[4], XM_047417989.1:c.*25GGGC[1], XM_047417989.1:c.*25GGGC[3], XM_047417989.1:c.*25GGGC[4]
2.
rs1491476299 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 5:140108026
(GRCh38)
5:139487611
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108025:AG:
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.01002/168
(TOMMO)
-=0.03685/236
(1000Genomes)
- HGVS:
3.
rs1490560969 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:140104033
(GRCh38)
5:139483618
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140104032:C:G
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
4.
rs1490539437 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:140107915
(GRCh38)
5:139487500
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140107914:A:G
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490248933 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:140104386
(GRCh38)
5:139483971
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140104385:T:C
- Gene:
- MALINC1 (Varview), LOC124900193 (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:
6.
rs1490073089 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:140108165
(GRCh38)
5:139487750
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108164:T:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.00143/17
(
ALFA)
C=0.05486/157
(KOREAN)
- HGVS:
7.
rs1489787617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:140107643
(GRCh38)
5:139487228
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140107642:G:T
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489693945 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140102431
(GRCh38)
5:139482016
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140102430:C:T
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489402680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 5:140108132
(GRCh38)
5:139487717
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108131:C:A,NC_000005.10:140108131:C:G,NC_000005.10:140108131:C:T
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000106/2
(TOMMO)
A=0.000695/2
(KOREAN)
- HGVS:
NC_000005.10:g.140108132C>A, NC_000005.10:g.140108132C>G, NC_000005.10:g.140108132C>T, NC_000005.9:g.139487717C>A, NC_000005.9:g.139487717C>G, NC_000005.9:g.139487717C>T, XM_047417990.1:c.854G>T, XM_047417990.1:c.854G>C, XM_047417990.1:c.854G>A, XM_047417989.1:c.854G>T, XM_047417989.1:c.854G>C, XM_047417989.1:c.854G>A, XP_047273946.1:p.Gly285Val, XP_047273946.1:p.Gly285Ala, XP_047273946.1:p.Gly285Glu, XP_047273945.1:p.Gly285Val, XP_047273945.1:p.Gly285Ala, XP_047273945.1:p.Gly285Glu
10.
rs1488494478 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:140102907
(GRCh38)
5:139482492
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140102906:T:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
11.
rs1488422978 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:140108992
(GRCh38)
5:139488577
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108991:G:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
12.
rs1487832014 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:140106953
(GRCh38)
5:139486538
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140106952:G:A,NC_000005.10:140106952:G:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000023/6
(TOPMED)
C=0.000035/1
(TOMMO)
- HGVS:
13.
rs1487763092 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:140107639
(GRCh38)
5:139487224
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140107638:A:G
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
14.
rs1486997146 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:140108657
(GRCh38)
5:139488242
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140108656:C:T
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- upstream_transcript_variant,missense_variant,2KB_upstream_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1486792100 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TAGA>-
[Show Flanks]
- Chromosome:
- 5:140106575
(GRCh38)
5:139486160
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140106572:GATAGA:GA
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GA=0./0
(
ALFA)
-=0.000011/3
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
16.
rs1486379631 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 5:140106001
(GRCh38)
5:139485586
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140106000:CC:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CC=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
17.
rs1485301845 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 5:140104324
(GRCh38)
5:139483909
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140104323:C:A
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000038/10
(TOPMED)
- HGVS:
18.
rs1484792454 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:140104231
(GRCh38)
5:139483816
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140104230:T:C
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
19.
rs1484317561 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 5:140103752
(GRCh38)
5:139483337
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140103751:A:T
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1483340021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 5:140103197
(GRCh38)
5:139482782
(GRCh37)
- Canonical SPDI:
- NC_000005.10:140103196:T:C,NC_000005.10:140103196:T:G
- Gene:
- MALINC1 (Varview), LOC124900193 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
NC_000005.10:g.140103197T>C, NC_000005.10:g.140103197T>G, NC_000005.9:g.139482782T>C, NC_000005.9:g.139482782T>G, NR_102739.1:n.2863A>G, NR_102739.1:n.2863A>C, XM_047417990.1:c.*1604A>G, XM_047417990.1:c.*1604A>C, XM_047417989.1:c.*1587A>G, XM_047417989.1:c.*1587A>C, NR_102740.1:n.2226A>G, NR_102740.1:n.2226A>C, NR_102741.1:n.1945A>G, NR_102741.1:n.1945A>C