Links from Gene
Items: 1 to 20 of 1000
1.
rs1491460972 has merged into rs578072587 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 9:129610309
(GRCh38)
9:132372588
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000009.12:129610300:CCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCC=0./0
(
ALFA)
-=0.000166/44
(TOPMED)
- HGVS:
NC_000009.12:g.129610309_129610310del, NC_000009.12:g.129610310del, NC_000009.12:g.129610310dup, NC_000009.12:g.129610309_129610310dup, NC_000009.12:g.129610308_129610310dup, NC_000009.12:g.129610307_129610310dup, NC_000009.12:g.129610306_129610310dup, NC_000009.11:g.132372588_132372589del, NC_000009.11:g.132372589del, NC_000009.11:g.132372589dup, NC_000009.11:g.132372588_132372589dup, NC_000009.11:g.132372587_132372589dup, NC_000009.11:g.132372586_132372589dup, NC_000009.11:g.132372585_132372589dup
2.
rs1491262858 has merged into rs34259203 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,T,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 9:129618877
(GRCh38)
9:132381156
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:129618868:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
T=0.3464/1735
(1000Genomes)
- HGVS:
NC_000009.12:g.129618877_129618885del, NC_000009.12:g.129618878_129618885del, NC_000009.12:g.129618882_129618885del, NC_000009.12:g.129618883_129618885del, NC_000009.12:g.129618884_129618885del, NC_000009.12:g.129618885del, NC_000009.12:g.129618885dup, NC_000009.12:g.129618884_129618885dup, NC_000009.12:g.129618883_129618885dup, NC_000009.12:g.129618881_129618885dup, NC_000009.12:g.129618878_129618885dup, NC_000009.12:g.129618877_129618885dup, NC_000009.12:g.129618876_129618885dup, NC_000009.12:g.129618875_129618885dup, NC_000009.12:g.129618874_129618885dup, NC_000009.11:g.132381156_132381164del, NC_000009.11:g.132381157_132381164del, NC_000009.11:g.132381161_132381164del, NC_000009.11:g.132381162_132381164del, NC_000009.11:g.132381163_132381164del, NC_000009.11:g.132381164del, NC_000009.11:g.132381164dup, NC_000009.11:g.132381163_132381164dup, NC_000009.11:g.132381162_132381164dup, NC_000009.11:g.132381160_132381164dup, NC_000009.11:g.132381157_132381164dup, NC_000009.11:g.132381156_132381164dup, NC_000009.11:g.132381155_132381164dup, NC_000009.11:g.132381154_132381164dup, NC_000009.11:g.132381153_132381164dup
3.
rs1491150940 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GGCTG
[Show Flanks]
- Chromosome:
- 9:129631148
(GRCh38)
9:132393428
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129631148:GGGCTG:GGGCTGGGCTG
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGCTGGGCTG=0./0
(
ALFA)
GGGCT=0.000004/1
(TOPMED)
GGGCT=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491134596 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 9:129610301
(GRCh38)
9:132372581
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129610301::A
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490909519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:129628096
(GRCh38)
9:132390375
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129628095:G:A,NC_000009.12:129628095:G:C
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
6.
rs1490852740 has merged into rs540693336 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GGG
[Show Flanks]
- Chromosome:
- 9:129624422
(GRCh38)
9:132386701
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129624421:GGGG:GGG,NC_000009.12:129624421:GGGG:GGGGGG
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGG=0./0
(
ALFA)
-=0.001/1
(GoNL)
- HGVS:
7.
rs1490847505 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:129619864
(GRCh38)
9:132382143
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129619863:C:G
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490762949 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:129618841
(GRCh38)
9:132381120
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129618840:C:T
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490650921 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:129611346
(GRCh38)
9:132373625
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129611345:A:C
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
10.
rs1490383009 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 9:129625982
(GRCh38)
9:132388261
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129625981:A:G,NC_000009.12:129625981:A:T
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
11.
rs1490330034 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:129623041
(GRCh38)
9:132385320
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129623040:A:T
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
14.
rs1490144157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:129610841
(GRCh38)
9:132373120
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129610840:G:A
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
15.
rs1490025778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:129632820
(GRCh38)
9:132395099
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129632819:C:T
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
NC_000009.12:g.129632820C>T, NC_000009.11:g.132395099C>T, NM_014064.4:c.117C>T, NM_014064.3:c.117C>T, NM_014064.2:c.117C>T, NM_001286796.2:c.117C>T, NM_001286796.1:c.117C>T, NM_001286798.2:c.117C>T, NM_001286798.1:c.117C>T, NM_001286797.2:c.117C>T, NM_001286797.1:c.117C>T, NM_001286799.2:c.117C>T, NM_001286799.1:c.117C>T, NM_001286801.2:c.117C>T, NM_001286801.1:c.117C>T, NM_001286800.2:c.117C>T, NM_001286800.1:c.117C>T, XM_047423257.1:c.117C>T, XM_047423259.1:c.117C>T, XM_047423258.1:c.117C>T, XM_047423260.1:c.117C>T
16.
rs1489917691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:129626177
(GRCh38)
9:132388456
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129626176:G:A
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- intron_variant,5_prime_UTR_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
NC_000009.12:g.129626177G>A, NC_000009.11:g.132388456G>A, NM_014064.4:c.-173G>A, NM_014064.3:c.-173G>A, NM_014064.2:c.-173G>A, NM_001286798.2:c.-199G>A, NM_001286798.1:c.-199G>A, NM_001286801.2:c.-199G>A, NM_001286801.1:c.-199G>A, NM_001286800.2:c.-173G>A, NM_001286800.1:c.-173G>A, NR_104596.2:n.15G>A, NR_104596.1:n.25G>A, NM_001286802.2:c.-247G>A, NM_001286802.1:c.-247G>A, NM_001286803.2:c.-221G>A, NM_001286803.1:c.-221G>A, XM_047423257.1:c.-2593G>A
17.
rs1489834860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:129623867
(GRCh38)
9:132386146
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129623866:C:G,NC_000009.12:129623866:C:T
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00007/1
(
ALFA)
G=0.00022/1
(Estonian)
- HGVS:
18.
rs1489823628 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:129633696
(GRCh38)
9:132395975
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129633695:C:G
- Gene:
- NTMT1 (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:
19.
rs1489805019 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:129620499
(GRCh38)
9:132382778
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129620498:G:A
- Gene:
- NTMT1 (Varview), C9orf50 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.129620499G>A, NC_000009.11:g.132382778G>A, NM_199350.4:c.76C>T, NM_199350.3:c.76C>T, XM_011518658.3:c.76C>T, XM_011518655.2:c.76C>T, XM_011518655.1:c.76C>T, XM_011518656.2:c.76C>T, XM_011518656.1:c.76C>T, NP_955382.3:p.Arg26Cys, XP_011516960.2:p.Arg26Cys, XP_011516957.1:p.Arg26Cys, XP_011516958.1:p.Arg26Cys
20.
rs1489799000 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:129632763
(GRCh38)
9:132395042
(GRCh37)
- Canonical SPDI:
- NC_000009.12:129632762:G:T
- Gene:
- NTMT1 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.129632763G>T, NC_000009.11:g.132395042G>T, NM_014064.4:c.60G>T, NM_014064.3:c.60G>T, NM_014064.2:c.60G>T, NM_001286796.2:c.60G>T, NM_001286796.1:c.60G>T, NM_001286798.2:c.60G>T, NM_001286798.1:c.60G>T, NM_001286797.2:c.60G>T, NM_001286797.1:c.60G>T, NM_001286799.2:c.60G>T, NM_001286799.1:c.60G>T, NM_001286801.2:c.60G>T, NM_001286801.1:c.60G>T, NM_001286800.2:c.60G>T, NM_001286800.1:c.60G>T, NR_104596.2:n.247G>T, NR_104596.1:n.257G>T, XM_047423257.1:c.60G>T, XM_047423259.1:c.60G>T, XM_047423258.1:c.60G>T, XM_047423260.1:c.60G>T, XM_047423261.1:c.-141G>T, NP_054783.2:p.Trp20Cys, NP_001273725.1:p.Trp20Cys, NP_001273727.1:p.Trp20Cys, NP_001273726.1:p.Trp20Cys, NP_001273728.1:p.Trp20Cys, NP_001273730.1:p.Trp20Cys, NP_001273729.1:p.Trp20Cys, XP_047279213.1:p.Trp20Cys, XP_047279215.1:p.Trp20Cys, XP_047279214.1:p.Trp20Cys, XP_047279216.1:p.Trp20Cys