Links from Gene
Items: 1 to 20 of 10696
1.
rs1491481897 has merged into rs11297566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:51101954
(GRCh38)
15:51394151
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51101945:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.291126/1122
(ALSPAC)
- HGVS:
NC_000015.10:g.51101954_51101964del, NC_000015.10:g.51101956_51101964del, NC_000015.10:g.51101957_51101964del, NC_000015.10:g.51101958_51101964del, NC_000015.10:g.51101959_51101964del, NC_000015.10:g.51101961_51101964del, NC_000015.10:g.51101962_51101964del, NC_000015.10:g.51101963_51101964del, NC_000015.10:g.51101964del, NC_000015.10:g.51101964dup, NC_000015.10:g.51101963_51101964dup, NC_000015.10:g.51101962_51101964dup, NC_000015.10:g.51101961_51101964dup, NC_000015.10:g.51101960_51101964dup, NC_000015.10:g.51101959_51101964dup, NC_000015.10:g.51101958_51101964dup, NC_000015.10:g.51101956_51101964dup, NC_000015.10:g.51101955_51101964dup, NC_000015.10:g.51101954_51101964dup, NC_000015.10:g.51101953_51101964dup, NC_000015.10:g.51101952_51101964dup, NC_000015.10:g.51101951_51101964dup, NC_000015.10:g.51101950_51101964dup, NC_000015.10:g.51101949_51101964dup, NC_000015.10:g.51101948_51101964dup, NC_000015.10:g.51101964_51101965insAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.51101964_51101965insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.51101964_51101965insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.51101964_51101965insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.51101964_51101965insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51394151_51394161del, NC_000015.9:g.51394153_51394161del, NC_000015.9:g.51394154_51394161del, NC_000015.9:g.51394155_51394161del, NC_000015.9:g.51394156_51394161del, NC_000015.9:g.51394158_51394161del, NC_000015.9:g.51394159_51394161del, NC_000015.9:g.51394160_51394161del, NC_000015.9:g.51394161del, NC_000015.9:g.51394161dup, NC_000015.9:g.51394160_51394161dup, NC_000015.9:g.51394159_51394161dup, NC_000015.9:g.51394158_51394161dup, NC_000015.9:g.51394157_51394161dup, NC_000015.9:g.51394156_51394161dup, NC_000015.9:g.51394155_51394161dup, NC_000015.9:g.51394153_51394161dup, NC_000015.9:g.51394152_51394161dup, NC_000015.9:g.51394151_51394161dup, NC_000015.9:g.51394150_51394161dup, NC_000015.9:g.51394149_51394161dup, NC_000015.9:g.51394148_51394161dup, NC_000015.9:g.51394147_51394161dup, NC_000015.9:g.51394146_51394161dup, NC_000015.9:g.51394145_51394161dup, NC_000015.9:g.51394161_51394162insAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51394161_51394162insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51394161_51394162insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51394161_51394162insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51394161_51394162insAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491417150 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 15:51091717
(GRCh38)
15:51383914
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51091716:CG:
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
4.
rs1491409632 has merged into rs869067416 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 15:51058465
(GRCh38)
15:51350662
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51058457:ATATATATA:ATATATA
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATA=0.00407/55
(
ALFA)
-=0.000016/2
(GnomAD)
-=0.000849/14
(TOMMO)
-=0.012209/728
(ExAC)
- HGVS:
5.
rs1491335057 has merged into rs10602536 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 15:51079862
(GRCh38)
15:51372059
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:51079855:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000015.10:g.51079862_51079879del, NC_000015.10:g.51079866_51079879del, NC_000015.10:g.51079867_51079879del, NC_000015.10:g.51079868_51079879del, NC_000015.10:g.51079869_51079879del, NC_000015.10:g.51079870_51079879del, NC_000015.10:g.51079871_51079879del, NC_000015.10:g.51079872_51079879del, NC_000015.10:g.51079873_51079879del, NC_000015.10:g.51079874_51079879del, NC_000015.10:g.51079875_51079879del, NC_000015.10:g.51079876_51079879del, NC_000015.10:g.51079877_51079879del, NC_000015.10:g.51079878_51079879del, NC_000015.10:g.51079879del, NC_000015.10:g.51079879dup, NC_000015.10:g.51079878_51079879dup, NC_000015.10:g.51079877_51079879dup, NC_000015.10:g.51079876_51079879dup, NC_000015.10:g.51079875_51079879dup, NC_000015.10:g.51079874_51079879dup, NC_000015.10:g.51079873_51079879dup, NC_000015.10:g.51079872_51079879dup, NC_000015.10:g.51079871_51079879dup, NC_000015.10:g.51079864_51079879dup, NC_000015.10:g.51079863_51079879dup, NC_000015.10:g.51079862_51079879dup, NC_000015.10:g.51079859_51079879dup, NC_000015.10:g.51079858_51079879dup, NC_000015.10:g.51079857_51079879dup, NC_000015.10:g.51079856_51079879dup, NC_000015.10:g.51079879_51079880insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.51079856_51079879A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000015.9:g.51372059_51372076del, NC_000015.9:g.51372063_51372076del, NC_000015.9:g.51372064_51372076del, NC_000015.9:g.51372065_51372076del, NC_000015.9:g.51372066_51372076del, NC_000015.9:g.51372067_51372076del, NC_000015.9:g.51372068_51372076del, NC_000015.9:g.51372069_51372076del, NC_000015.9:g.51372070_51372076del, NC_000015.9:g.51372071_51372076del, NC_000015.9:g.51372072_51372076del, NC_000015.9:g.51372073_51372076del, NC_000015.9:g.51372074_51372076del, NC_000015.9:g.51372075_51372076del, NC_000015.9:g.51372076del, NC_000015.9:g.51372076dup, NC_000015.9:g.51372075_51372076dup, NC_000015.9:g.51372074_51372076dup, NC_000015.9:g.51372073_51372076dup, NC_000015.9:g.51372072_51372076dup, NC_000015.9:g.51372071_51372076dup, NC_000015.9:g.51372070_51372076dup, NC_000015.9:g.51372069_51372076dup, NC_000015.9:g.51372068_51372076dup, NC_000015.9:g.51372061_51372076dup, NC_000015.9:g.51372060_51372076dup, NC_000015.9:g.51372059_51372076dup, NC_000015.9:g.51372056_51372076dup, NC_000015.9:g.51372055_51372076dup, NC_000015.9:g.51372054_51372076dup, NC_000015.9:g.51372053_51372076dup, NC_000015.9:g.51372076_51372077insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.51372053_51372076A[29]TAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
6.
rs1491268477 has merged into rs34100127 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-,ATAT,ATATAT
[Show Flanks]
- Chromosome:
- 15:51064490
(GRCh38)
15:51356687
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51064477:ATATATATATATAT:ATATATATATAT,NC_000015.10:51064477:ATATATATATATAT:ATATATATATATATAT,NC_000015.10:51064477:ATATATATATATAT:ATATATATATATATATAT
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATATATATATATATATAT=0./0
(
ALFA)
-=0.10167/61
(NorthernSweden)
-=0.1236/619
(1000Genomes)
-=0.15789/6
(GENOME_DK)
- HGVS:
7.
rs1491252195 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 15:51065664
(GRCh38)
15:51357862
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51065664:T:TT
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1491250922 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 15:51066164
(GRCh38)
15:51358361
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51066163:CT:
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00007/6
(GnomAD)
- HGVS:
9.
rs1491246005 has merged into rs771443209 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:51086905
(GRCh38)
15:51379102
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:51086894:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
T=0.07525/45
(NorthernSweden)
T=0.07917/507
(1000Genomes)
T=0.225/9
(GENOME_DK)
- HGVS:
NC_000015.10:g.51086905_51086907del, NC_000015.10:g.51086906_51086907del, NC_000015.10:g.51086907del, NC_000015.10:g.51086907dup, NC_000015.10:g.51086906_51086907dup, NC_000015.10:g.51086903_51086907dup, NC_000015.10:g.51086897_51086907dup, NC_000015.9:g.51379102_51379104del, NC_000015.9:g.51379103_51379104del, NC_000015.9:g.51379104del, NC_000015.9:g.51379104dup, NC_000015.9:g.51379103_51379104dup, NC_000015.9:g.51379100_51379104dup, NC_000015.9:g.51379094_51379104dup
10.
rs1491163826 has merged into rs66617524 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT
[Show Flanks]
- Chromosome:
- 15:51066176
(GRCh38)
15:51358373
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:51066164:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.2274/1139
(1000Genomes)
T=0.325/13
(GENOME_DK)
- HGVS:
NC_000015.10:g.51066176_51066180del, NC_000015.10:g.51066177_51066180del, NC_000015.10:g.51066178_51066180del, NC_000015.10:g.51066179_51066180del, NC_000015.10:g.51066180del, NC_000015.10:g.51066180dup, NC_000015.10:g.51066179_51066180dup, NC_000015.9:g.51358373_51358377del, NC_000015.9:g.51358374_51358377del, NC_000015.9:g.51358375_51358377del, NC_000015.9:g.51358376_51358377del, NC_000015.9:g.51358377del, NC_000015.9:g.51358377dup, NC_000015.9:g.51358376_51358377dup
11.
rs1491138758 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 15:51064477
(GRCh38)
15:51356674
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51064476:AA:
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000125/17
(GnomAD)
-=0.000185/49
(TOPMED)
- HGVS:
12.
rs1491007717 has merged into rs67230213 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA
[Show Flanks]
- Chromosome:
- 15:51097866
(GRCh38)
15:51390063
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51097862:AAAAA:AAA,NC_000015.10:51097862:AAAAA:AAAA,NC_000015.10:51097862:AAAAA:AAAAAA
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
-=0.001734/29
(TOMMO)
-=0.002455/11
(Estonian)
- HGVS:
13.
rs1490964775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 15:51056737
(GRCh38)
15:51348934
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51056736:C:A
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- 3_prime_UTR_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)
A=0.000156/1
(1000Genomes)
A=0.000248/4
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
14.
rs1490961056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:51072139
(GRCh38)
15:51364336
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51072138:C:T
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490894564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:51069982
(GRCh38)
15:51362179
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51069981:C:T
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490864493 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:51097572
(GRCh38)
15:51389769
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51097571:G:A
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
17.
rs1490815444 has merged into rs560713315 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTCTTTTTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 15:51106430
(GRCh38)
15:51398627
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTCTCTTTTTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:51106417:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903492 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTT=0./0
(
ALFA)
-=0.022/22
(GoNL)
- HGVS:
NC_000015.10:g.51106430_51106449del, NC_000015.10:g.51106431_51106449del, NC_000015.10:g.51106432_51106449del, NC_000015.10:g.51106433_51106449del, NC_000015.10:g.51106434_51106449del, NC_000015.10:g.51106435_51106449del, NC_000015.10:g.51106436_51106449del, NC_000015.10:g.51106437_51106449del, NC_000015.10:g.51106438_51106449del, NC_000015.10:g.51106439_51106449del, NC_000015.10:g.51106440_51106449del, NC_000015.10:g.51106441_51106449del, NC_000015.10:g.51106442_51106449del, NC_000015.10:g.51106443_51106449del, NC_000015.10:g.51106444_51106449del, NC_000015.10:g.51106445_51106449del, NC_000015.10:g.51106446_51106449del, NC_000015.10:g.51106447_51106449del, NC_000015.10:g.51106448_51106449del, NC_000015.10:g.51106449del, NC_000015.10:g.51106449dup, NC_000015.10:g.51106448_51106449dup, NC_000015.10:g.51106447_51106449dup, NC_000015.10:g.51106446_51106449dup, NC_000015.10:g.51106445_51106449dup, NC_000015.10:g.51106444_51106449dup, NC_000015.10:g.51106443_51106449dup, NC_000015.10:g.51106442_51106449dup, NC_000015.10:g.51106441_51106449dup, NC_000015.10:g.51106440_51106449dup, NC_000015.10:g.51106418_51106449T[43]CTTTTCTCTTTTTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.51106438_51106449dup, NC_000015.10:g.51106437_51106449dup, NC_000015.10:g.51106435_51106449dup, NC_000015.10:g.51106434_51106449dup, NC_000015.10:g.51106418_51106449T[48]CT[2]T[67], NC_000015.10:g.51106433_51106449dup, NC_000015.10:g.51106418_51106449T[49]GTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.10:g.51106432_51106449dup, NC_000015.10:g.51106431_51106449dup, NC_000015.10:g.51106430_51106449dup, NC_000015.10:g.51106429_51106449dup, NC_000015.10:g.51106428_51106449dup, NC_000015.10:g.51106425_51106449dup, NC_000015.10:g.51106424_51106449dup, NC_000015.10:g.51106449_51106450insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.51398627_51398646del, NC_000015.9:g.51398628_51398646del, NC_000015.9:g.51398629_51398646del, NC_000015.9:g.51398630_51398646del, NC_000015.9:g.51398631_51398646del, NC_000015.9:g.51398632_51398646del, NC_000015.9:g.51398633_51398646del, NC_000015.9:g.51398634_51398646del, NC_000015.9:g.51398635_51398646del, NC_000015.9:g.51398636_51398646del, NC_000015.9:g.51398637_51398646del, NC_000015.9:g.51398638_51398646del, NC_000015.9:g.51398639_51398646del, NC_000015.9:g.51398640_51398646del, NC_000015.9:g.51398641_51398646del, NC_000015.9:g.51398642_51398646del, NC_000015.9:g.51398643_51398646del, NC_000015.9:g.51398644_51398646del, NC_000015.9:g.51398645_51398646del, NC_000015.9:g.51398646del, NC_000015.9:g.51398646dup, NC_000015.9:g.51398645_51398646dup, NC_000015.9:g.51398644_51398646dup, NC_000015.9:g.51398643_51398646dup, NC_000015.9:g.51398642_51398646dup, NC_000015.9:g.51398641_51398646dup, NC_000015.9:g.51398640_51398646dup, NC_000015.9:g.51398639_51398646dup, NC_000015.9:g.51398638_51398646dup, NC_000015.9:g.51398637_51398646dup, NC_000015.9:g.51398615_51398646T[43]CTTTTCTCTTTTTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.51398635_51398646dup, NC_000015.9:g.51398634_51398646dup, NC_000015.9:g.51398632_51398646dup, NC_000015.9:g.51398631_51398646dup, NC_000015.9:g.51398615_51398646T[48]CT[2]T[67], NC_000015.9:g.51398630_51398646dup, NC_000015.9:g.51398615_51398646T[49]GTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000015.9:g.51398629_51398646dup, NC_000015.9:g.51398628_51398646dup, NC_000015.9:g.51398627_51398646dup, NC_000015.9:g.51398626_51398646dup, NC_000015.9:g.51398625_51398646dup, NC_000015.9:g.51398622_51398646dup, NC_000015.9:g.51398621_51398646dup, NC_000015.9:g.51398646_51398647insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
18.
rs1490792107 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:51091429
(GRCh38)
15:51383626
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51091428:T:C
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000029/4
(GnomAD)
- HGVS:
19.
rs1490701929 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:51072753
(GRCh38)
15:51364950
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51072752:T:C
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00003/8
(TOPMED)
C=0.000546/1
(Korea1K)
- HGVS:
20.
rs1490671564 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:51104939
(GRCh38)
15:51397136
(GRCh37)
- Canonical SPDI:
- NC_000015.10:51104938:C:T
- Gene:
- TNFAIP8L3 (Varview), MIR4713HG (Varview), LOC124903492 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS: