Links from Gene
Items: 1 to 20 of 7462
2.
rs1491440202 has merged into rs1194911436 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAA>-,A,AA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 9:112705122
(GRCh38)
9:115467402
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:112705110:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.112705122_112705134del, NC_000009.12:g.112705123_112705134del, NC_000009.12:g.112705124_112705134del, NC_000009.12:g.112705127_112705134del, NC_000009.12:g.112705128_112705134del, NC_000009.12:g.112705130_112705134del, NC_000009.12:g.112705131_112705134del, NC_000009.12:g.112705132_112705134del, NC_000009.12:g.112705133_112705134del, NC_000009.12:g.112705134del, NC_000009.12:g.112705134dup, NC_000009.12:g.112705133_112705134dup, NC_000009.12:g.112705132_112705134dup, NC_000009.12:g.112705131_112705134dup, NC_000009.12:g.112705130_112705134dup, NC_000009.12:g.112705129_112705134dup, NC_000009.12:g.112705128_112705134dup, NC_000009.12:g.112705127_112705134dup, NC_000009.12:g.112705126_112705134dup, NC_000009.12:g.112705125_112705134dup, NC_000009.12:g.112705124_112705134dup, NC_000009.12:g.112705134_112705135insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.115467402_115467414del, NC_000009.11:g.115467403_115467414del, NC_000009.11:g.115467404_115467414del, NC_000009.11:g.115467407_115467414del, NC_000009.11:g.115467408_115467414del, NC_000009.11:g.115467410_115467414del, NC_000009.11:g.115467411_115467414del, NC_000009.11:g.115467412_115467414del, NC_000009.11:g.115467413_115467414del, NC_000009.11:g.115467414del, NC_000009.11:g.115467414dup, NC_000009.11:g.115467413_115467414dup, NC_000009.11:g.115467412_115467414dup, NC_000009.11:g.115467411_115467414dup, NC_000009.11:g.115467410_115467414dup, NC_000009.11:g.115467409_115467414dup, NC_000009.11:g.115467408_115467414dup, NC_000009.11:g.115467407_115467414dup, NC_000009.11:g.115467406_115467414dup, NC_000009.11:g.115467405_115467414dup, NC_000009.11:g.115467404_115467414dup, NC_000009.11:g.115467414_115467415insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
4.
rs1491222769 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CC
[Show Flanks]
- Chromosome:
- 9:112715134
(GRCh38)
9:115477415
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112715134:C:CCC
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCC=0./0
(
ALFA)
CC=0.00189/12
(GnomAD)
- HGVS:
5.
rs1490969788 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:112698516
(GRCh38)
9:115460796
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112698515:A:G
- Gene:
- INIP (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:
6.
rs1490918261 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:112703601
(GRCh38)
9:115465881
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112703600:T:A
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
7.
rs1490785256 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 9:112705969
(GRCh38)
9:115468249
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112705968:G:A,NC_000009.12:112705968:G:C
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000043/6
(GnomAD)
- HGVS:
8.
rs1490767920 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:112690456
(GRCh38)
9:115452736
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112690455:G:C
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
9.
rs1490603081 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TAA
[Show Flanks]
- Chromosome:
- 9:112689825
(GRCh38)
9:115452106
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112689825::TAA
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TAA=0./0
(
ALFA)
TAA=0.000004/1
(TOPMED)
TAA=0.000007/1
(GnomAD)
- HGVS:
11.
rs1490454648 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:112683886
(GRCh38)
9:115446166
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112683885:C:A,NC_000009.12:112683885:C:T
- Gene:
- INIP (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
12.
rs1490322831 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:112685137
(GRCh38)
9:115447417
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112685136:G:T
- Gene:
- INIP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000054/1
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/4
(GnomAD)
T=0.000223/1
(Estonian)
- HGVS:
NC_000009.12:g.112685137G>T, NC_000009.11:g.115447417G>T, NM_021218.3:c.*2401C>A, NM_021218.2:c.*2401C>A, NM_001329585.2:c.*2401C>A, NM_001329585.1:c.*2401C>A, NM_001329588.2:c.*2401C>A, NM_001329588.1:c.*2401C>A, NM_001329590.2:c.*2401C>A, NM_001329590.1:c.*2401C>A, NR_138055.2:n.2905C>A, NR_138055.1:n.2937C>A, NM_001329589.2:c.*2401C>A, NM_001329589.1:c.*2401C>A, NM_001329586.2:c.*2367C>A, NM_001329586.1:c.*2367C>A, NM_001329587.2:c.*2367C>A, NM_001329587.1:c.*2367C>A, NR_138056.2:n.2731C>A, NR_138056.1:n.2763C>A, NR_138054.2:n.2709C>A, NR_138054.1:n.2741C>A
13.
rs1490269357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:112690909
(GRCh38)
9:115453189
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112690908:G:A
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
14.
rs1490237959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:112691957
(GRCh38)
9:115454237
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112691956:C:T
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
15.
rs1490222496 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:112693028
(GRCh38)
9:115455308
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112693027:C:
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.00219/4
(Korea1K)
- HGVS:
16.
rs1490221128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:112707731
(GRCh38)
9:115470011
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112707730:C:A
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1490065890 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:112705108
(GRCh38)
9:115467388
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112705107:C:A
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.00167/47
(TOMMO)
- HGVS:
18.
rs1489824309 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:112699169
(GRCh38)
9:115461449
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112699168:T:C
- Gene:
- INIP (Varview)
- Functional Consequence:
- 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:
19.
rs1489731043 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:112698014
(GRCh38)
9:115460295
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112698014:TT:TTT
- Gene:
- INIP (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTT=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
20.
rs1489718085 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:112684022
(GRCh38)
9:115446302
(GRCh37)
- Canonical SPDI:
- NC_000009.12:112684021:A:G
- Gene:
- INIP (Varview)
- Functional Consequence:
- non_coding_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
NC_000009.12:g.112684022A>G, NC_000009.11:g.115446302A>G, NM_021218.3:c.*3516T>C, NM_021218.2:c.*3516T>C, NM_001329585.2:c.*3516T>C, NM_001329585.1:c.*3516T>C, NM_001329588.2:c.*3516T>C, NM_001329588.1:c.*3516T>C, NM_001329590.2:c.*3516T>C, NM_001329590.1:c.*3516T>C, NR_138055.2:n.4020T>C, NR_138055.1:n.4052T>C, NM_001329589.2:c.*3516T>C, NM_001329589.1:c.*3516T>C, NM_001329586.2:c.*3482T>C, NM_001329586.1:c.*3482T>C, NM_001329587.2:c.*3482T>C, NM_001329587.1:c.*3482T>C, NR_138056.2:n.3846T>C, NR_138056.1:n.3878T>C, NR_138054.2:n.3824T>C, NR_138054.1:n.3856T>C