Links from Gene
Items: 1 to 20 of 1000
1.
rs1491560323 has merged into rs67496918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:45166799
(GRCh38)
10:45662247
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.45166799_45166809del, NC_000010.11:g.45166800_45166809del, NC_000010.11:g.45166801_45166809del, NC_000010.11:g.45166802_45166809del, NC_000010.11:g.45166803_45166809del, NC_000010.11:g.45166804_45166809del, NC_000010.11:g.45166805_45166809del, NC_000010.11:g.45166806_45166809del, NC_000010.11:g.45166807_45166809del, NC_000010.11:g.45166808_45166809del, NC_000010.11:g.45166809del, NC_000010.11:g.45166809dup, NC_000010.11:g.45166808_45166809dup, NC_000010.11:g.45166807_45166809dup, NC_000010.11:g.45166806_45166809dup, NC_000010.11:g.45166805_45166809dup, NC_000010.11:g.45166804_45166809dup, NC_000010.11:g.45166803_45166809dup, NC_000010.11:g.45166802_45166809dup, NC_000010.11:g.45166801_45166809dup, NC_000010.11:g.45166800_45166809dup, NC_000010.11:g.45166799_45166809dup, NC_000010.10:g.45662247_45662257del, NC_000010.10:g.45662248_45662257del, NC_000010.10:g.45662249_45662257del, NC_000010.10:g.45662250_45662257del, NC_000010.10:g.45662251_45662257del, NC_000010.10:g.45662252_45662257del, NC_000010.10:g.45662253_45662257del, NC_000010.10:g.45662254_45662257del, NC_000010.10:g.45662255_45662257del, NC_000010.10:g.45662256_45662257del, NC_000010.10:g.45662257del, NC_000010.10:g.45662257dup, NC_000010.10:g.45662256_45662257dup, NC_000010.10:g.45662255_45662257dup, NC_000010.10:g.45662254_45662257dup, NC_000010.10:g.45662253_45662257dup, NC_000010.10:g.45662252_45662257dup, NC_000010.10:g.45662251_45662257dup, NC_000010.10:g.45662250_45662257dup, NC_000010.10:g.45662249_45662257dup, NC_000010.10:g.45662248_45662257dup, NC_000010.10:g.45662247_45662257dup
2.
rs1491486339 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GT
[Show Flanks]
- Chromosome:
- 10:45184974
(GRCh38)
10:45680423
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45184974:T:TGT
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGT=0.014318/64
(
ALFA)
TG=0.000007/1
(GnomAD)
TG=0.000779/22
(TOMMO)
- HGVS:
3.
rs1491375752 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 10:45166780
(GRCh38)
10:45662228
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45166779:CA:
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00688/12
(Korea1K)
- HGVS:
4.
rs1491363755 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 10:45166781
(GRCh38)
10:45662229
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45166780:AT:
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.0005/44
(GnomAD)
- HGVS:
5.
rs1491081457 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 10:45169975
(GRCh38)
10:45665424
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45169975::A
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00393/42
(GnomAD)
- HGVS:
6.
rs1491045790 has merged into rs67496918 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 10:45166799
(GRCh38)
10:45662247
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:45166781:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000010.11:g.45166799_45166809del, NC_000010.11:g.45166800_45166809del, NC_000010.11:g.45166801_45166809del, NC_000010.11:g.45166802_45166809del, NC_000010.11:g.45166803_45166809del, NC_000010.11:g.45166804_45166809del, NC_000010.11:g.45166805_45166809del, NC_000010.11:g.45166806_45166809del, NC_000010.11:g.45166807_45166809del, NC_000010.11:g.45166808_45166809del, NC_000010.11:g.45166809del, NC_000010.11:g.45166809dup, NC_000010.11:g.45166808_45166809dup, NC_000010.11:g.45166807_45166809dup, NC_000010.11:g.45166806_45166809dup, NC_000010.11:g.45166805_45166809dup, NC_000010.11:g.45166804_45166809dup, NC_000010.11:g.45166803_45166809dup, NC_000010.11:g.45166802_45166809dup, NC_000010.11:g.45166801_45166809dup, NC_000010.11:g.45166800_45166809dup, NC_000010.11:g.45166799_45166809dup, NC_000010.10:g.45662247_45662257del, NC_000010.10:g.45662248_45662257del, NC_000010.10:g.45662249_45662257del, NC_000010.10:g.45662250_45662257del, NC_000010.10:g.45662251_45662257del, NC_000010.10:g.45662252_45662257del, NC_000010.10:g.45662253_45662257del, NC_000010.10:g.45662254_45662257del, NC_000010.10:g.45662255_45662257del, NC_000010.10:g.45662256_45662257del, NC_000010.10:g.45662257del, NC_000010.10:g.45662257dup, NC_000010.10:g.45662256_45662257dup, NC_000010.10:g.45662255_45662257dup, NC_000010.10:g.45662254_45662257dup, NC_000010.10:g.45662253_45662257dup, NC_000010.10:g.45662252_45662257dup, NC_000010.10:g.45662251_45662257dup, NC_000010.10:g.45662250_45662257dup, NC_000010.10:g.45662249_45662257dup, NC_000010.10:g.45662248_45662257dup, NC_000010.10:g.45662247_45662257dup
8.
rs1490864670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 10:45164064
(GRCh38)
10:45659512
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45164063:C:A,NC_000010.11:45164063:C:G,NC_000010.11:45164063:C:T
- Gene:
- ANKRD30BP3 (Varview), MIR3156-1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
A=0.000546/1
(Korea1K)
- HGVS:
9.
rs1490803285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:45156417
(GRCh38)
10:45651865
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45156416:G:A
- Gene:
- ANKRD30BP3 (Varview), RSU1P2 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
10.
rs1490779535 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 10:45166817
(GRCh38)
10:45662265
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45166814:AGAG:AG
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAG=0./0
(
ALFA)
-=0.0002/3
(GnomAD)
- HGVS:
11.
rs1490753822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C,T
[Show Flanks]
- Chromosome:
- 10:45164379
(GRCh38)
10:45659827
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45164378:G:C,NC_000010.11:45164378:G:T
- Gene:
- ANKRD30BP3 (Varview), MIR3156-1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_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)
T=0.000035/1
(TOMMO)
- HGVS:
12.
rs1490677585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 10:45172544
(GRCh38)
10:45667992
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45172543:A:G
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000004/1
(TOPMED)
G=0.000035/1
(TOMMO)
- HGVS:
13.
rs1490640430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:45156814
(GRCh38)
10:45652262
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45156813:C:T
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490570134 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:45171845
(GRCh38)
10:45667293
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45171844:G:A
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- non_coding_transcript_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.
rs1490533533 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 10:45183594
(GRCh38)
10:45679042
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45183593:C:T
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000447/2
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000446/2
(Estonian)
- HGVS:
17.
rs1490397860 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 10:45180708
(GRCh38)
10:45676156
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45180707:C:G,NC_000010.11:45180707:C:T
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1490289956 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 10:45165707
(GRCh38)
10:45661155
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45165706:T:A
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490044447 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 10:45164717
(GRCh38)
10:45660165
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45164716:A:C
- Gene:
- ANKRD30BP3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
20.
rs1489800565 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 10:45164523
(GRCh38)
10:45659971
(GRCh37)
- Canonical SPDI:
- NC_000010.11:45164522:G:A
- Gene:
- ANKRD30BP3 (Varview), MIR3156-1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: