Links from Gene
Items: 1 to 20 of 2397
1.
rs1490712075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:110243477
(GRCh38)
6:110564680
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110243476:T:C
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490494256 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 6:110252283
(GRCh38)
6:110573486
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110252282:CCC:CC
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000036/5
(GnomAD)
- HGVS:
3.
rs1490238302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:110244045
(GRCh38)
6:110565248
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110244044:C:A
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000036/5
(GnomAD)
- HGVS:
4.
rs1490167891 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:110253426
(GRCh38)
6:110574629
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110253425:A:G
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490161871 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA
[Show Flanks]
- Chromosome:
- 6:110252144
(GRCh38)
6:110573347
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110252143:AAAAAA:AAAAA,NC_000006.12:110252143:AAAAAA:AAAAAAA
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1489543475 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 6:110252714
(GRCh38)
6:110573917
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110252713:G:A,NC_000006.12:110252713:G:C
- Gene:
- METTL24 (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:
7.
rs1488646401 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 6:110246786
(GRCh38)
6:110567989
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110246785:T:A
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1488615233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:110249607
(GRCh38)
6:110570810
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110249606:C:T
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
9.
rs1488567052 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:110248657
(GRCh38)
6:110569860
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110248656:G:A
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
10.
rs1488359647 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 6:110246363
(GRCh38)
6:110567566
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110246362:A:C
- Gene:
- METTL24 (Varview), LOC105377937 (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:
11.
rs1488330156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:110245048
(GRCh38)
6:110566251
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110245047:G:C
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
13.
rs1487486730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 6:110246193
(GRCh38)
6:110567396
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110246192:T:C
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,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:
NC_000006.12:g.110246193T>C, NC_000006.11:g.110567396T>C, NM_001123364.3:c.854A>G, NM_001123364.2:c.854A>G, NM_001123364.1:c.854A>G, NM_001354594.2:c.263A>G, NM_001354594.1:c.263A>G, NM_001354595.2:c.263A>G, NM_001354595.1:c.263A>G, NP_001116836.1:p.Asp285Gly, NP_001341523.1:p.Asp88Gly, NP_001341524.1:p.Asp88Gly
14.
rs1487413325 has merged into rs34442447 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TATCTATCTATC>-,TATC,TATCTATC,TATCTATCTATCTATC,TATCTATCTATCTATCTATC,TATCTATCTATCTATCTATCTATC,TATCTATCTATCTATCTATCTATCTATC,TATCTATCTATCTATCTATCTATCTATCTATC,TATCTATCTATCTATCTATCTATCTATCTATCTATC,TATCTATCTATCTATCTATCTATCTATCTATCTATCTATC
[Show Flanks]
- Chromosome:
- 6:110244991
(GRCh38)
6:110566194
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC,NC_000006.12:110244970:TATCTATCTATCTATCTATCTATCTATCTATC:TATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATCTATC
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATCTATCTATCTATCTATCTATC=0./0
(
ALFA)
-=0.000389/103
(TOPMED)
- HGVS:
NC_000006.12:g.110244971TATC[5], NC_000006.12:g.110244971TATC[6], NC_000006.12:g.110244971TATC[7], NC_000006.12:g.110244971TATC[9], NC_000006.12:g.110244971TATC[10], NC_000006.12:g.110244971TATC[11], NC_000006.12:g.110244971TATC[12], NC_000006.12:g.110244971TATC[13], NC_000006.12:g.110244971TATC[14], NC_000006.12:g.110244971TATC[15], NC_000006.11:g.110566174TATC[5], NC_000006.11:g.110566174TATC[6], NC_000006.11:g.110566174TATC[7], NC_000006.11:g.110566174TATC[9], NC_000006.11:g.110566174TATC[10], NC_000006.11:g.110566174TATC[11], NC_000006.11:g.110566174TATC[12], NC_000006.11:g.110566174TATC[13], NC_000006.11:g.110566174TATC[14], NC_000006.11:g.110566174TATC[15], NM_001123364.3:c.*944GATA[5], NM_001123364.3:c.*944GATA[6], NM_001123364.3:c.*944GATA[7], NM_001123364.3:c.*944GATA[9], NM_001123364.3:c.*944GATA[10], NM_001123364.3:c.*944GATA[11], NM_001123364.3:c.*944GATA[12], NM_001123364.3:c.*944GATA[13], NM_001123364.3:c.*944GATA[14], NM_001123364.3:c.*944GATA[15], NM_001123364.2:c.*944GATA[5], NM_001123364.2:c.*944GATA[6], NM_001123364.2:c.*944GATA[7], NM_001123364.2:c.*944GATA[9], NM_001123364.2:c.*944GATA[10], NM_001123364.2:c.*944GATA[11], NM_001123364.2:c.*944GATA[12], NM_001123364.2:c.*944GATA[13], NM_001123364.2:c.*944GATA[14], NM_001123364.2:c.*944GATA[15], NM_001354594.2:c.*944GATA[5], NM_001354594.2:c.*944GATA[6], NM_001354594.2:c.*944GATA[7], NM_001354594.2:c.*944GATA[9], NM_001354594.2:c.*944GATA[10], NM_001354594.2:c.*944GATA[11], NM_001354594.2:c.*944GATA[12], NM_001354594.2:c.*944GATA[13], NM_001354594.2:c.*944GATA[14], NM_001354594.2:c.*944GATA[15], NM_001354594.1:c.*944GATA[5], NM_001354594.1:c.*944GATA[6], NM_001354594.1:c.*944GATA[7], NM_001354594.1:c.*944GATA[9], NM_001354594.1:c.*944GATA[10], NM_001354594.1:c.*944GATA[11], NM_001354594.1:c.*944GATA[12], NM_001354594.1:c.*944GATA[13], NM_001354594.1:c.*944GATA[14], NM_001354594.1:c.*944GATA[15], NM_001354595.2:c.*944GATA[5], NM_001354595.2:c.*944GATA[6], NM_001354595.2:c.*944GATA[7], NM_001354595.2:c.*944GATA[9], NM_001354595.2:c.*944GATA[10], NM_001354595.2:c.*944GATA[11], NM_001354595.2:c.*944GATA[12], NM_001354595.2:c.*944GATA[13], NM_001354595.2:c.*944GATA[14], NM_001354595.2:c.*944GATA[15], NM_001354595.1:c.*944GATA[5], NM_001354595.1:c.*944GATA[6], NM_001354595.1:c.*944GATA[7], NM_001354595.1:c.*944GATA[9], NM_001354595.1:c.*944GATA[10], NM_001354595.1:c.*944GATA[11], NM_001354595.1:c.*944GATA[12], NM_001354595.1:c.*944GATA[13], NM_001354595.1:c.*944GATA[14], NM_001354595.1:c.*944GATA[15]
15.
rs1487307571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 6:110254590
(GRCh38)
6:110575793
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110254589:C:T
- Gene:
- METTL24 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.00005/7
(GnomAD)
T=0.000057/15
(TOPMED)
- HGVS:
16.
rs1486923799 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 6:110243774
(GRCh38)
6:110564977
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110243773:G:C
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_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.
rs1486835619 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 6:110247114
(GRCh38)
6:110568317
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110247113:G:A
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
18.
rs1486763120 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 6:110246051
(GRCh38)
6:110567254
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110246050:A:G
- Gene:
- METTL24 (Varview), LOC105377937 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
19.
rs1486141300 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 6:110243329
(GRCh38)
6:110564532
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110243328:C:A,NC_000006.12:110243328:C:T
- Gene:
- LOC105377937 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1485517581 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 6:110248943
(GRCh38)
6:110570146
(GRCh37)
- Canonical SPDI:
- NC_000006.12:110248942:C:A
- Gene:
- METTL24 (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: