Links from Gene
Items: 1 to 20 of 2899
1.
rs1491024179 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->GAGACAGGACAGGCAAGGGGGCCAGAACAGACAAGCCCTATCT
[Show Flanks]
- Chromosome:
- 11:6610098
(GRCh38)
11:6631330
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6610098:GAGACAGGACAGGCAAGGGGGCCAGAACAGACAAGCCCTATCT:GAGACAGGACAGGCAAGGGGGCCAGAACAGACAAGCCCTATCTGAGACAGGACAGGCAAGGGGGCCAGAACAGACAAGCCCTATCT
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency
- MAF:
GAGACAGGACAGGCAAGGGGGCCAGAACAGACAAGCCCTATCT=0.000016/4
(GnomAD_exomes)
- HGVS:
3.
rs1490570076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6610282
(GRCh38)
11:6631513
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6610281:A:G
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,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:
5.
rs1490277553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6603429
(GRCh38)
11:6624659
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6603428:G:A
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
6.
rs1490149281 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:6605509
(GRCh38)
11:6626739
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6605508:T:A
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
7.
rs1489911839 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:6611080
(GRCh38)
11:6632311
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6611079:T:C,NC_000011.10:6611079:T:G
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000069/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489542462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:6605025
(GRCh38)
11:6626255
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6605024:G:A,NC_000011.10:6605024:G:C
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
9.
rs1489276858 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6604189
(GRCh38)
11:6625419
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6604188:C:G
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
NC_000011.10:g.6604189C>G, NC_000011.9:g.6625419C>G, NG_029702.1:g.5456C>G, NM_004517.4:c.-83C>G, NM_004517.3:c.-83C>G, NM_001014795.3:c.-83C>G, NM_001014795.2:c.-83C>G, NM_001278441.2:c.-83C>G, NM_001278441.1:c.-83C>G, XM_024448499.2:c.-355C>G, XM_011520065.2:c.-83C>G, XM_011520065.1:c.-83C>G, XM_024448498.2:c.-264C>G, XM_024448498.1:c.-264C>G, XM_047426885.1:c.-319C>G
10.
rs1489118962 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:6604354
(GRCh38)
11:6625584
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6604353:A:G
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.6604354A>G, NC_000011.9:g.6625584A>G, NG_029702.1:g.5621A>G, NM_004517.4:c.83A>G, NM_004517.3:c.83A>G, NM_001014795.3:c.83A>G, NM_001014795.2:c.83A>G, NM_001014794.3:c.83A>G, NM_001014794.2:c.83A>G, NM_001278441.2:c.83A>G, NM_001278441.1:c.83A>G, NM_001278442.2:c.-154A>G, NM_001278442.1:c.-154A>G, XM_005252904.6:c.83A>G, XM_005252904.5:c.83A>G, XM_005252904.4:c.83A>G, XM_005252904.3:c.83A>G, XM_005252904.2:c.83A>G, XM_005252904.1:c.83A>G, XM_024448499.2:c.-190A>G, XM_024448499.1:c.-190A>G, XM_011520065.2:c.83A>G, XM_011520065.1:c.83A>G, XM_024448498.2:c.-99A>G, XM_024448498.1:c.-99A>G, XM_047426885.1:c.-154A>G, NP_004508.1:p.Asn28Ser, NP_001014795.1:p.Asn28Ser, NP_001014794.1:p.Asn28Ser, NP_001265370.1:p.Asn28Ser, XP_005252961.1:p.Asn28Ser, XP_011518367.1:p.Asn28Ser
11.
rs1489083816 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6608251
(GRCh38)
11:6629481
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6608250:C:T
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1488887490 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:6603386
(GRCh38)
11:6624616
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6603385:C:T
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000005/1
(GnomAD_exomes)
- HGVS:
13.
rs1488798690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:6607078
(GRCh38)
11:6628308
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6607077:G:C
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
14.
rs1488760931 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTT>-
[Show Flanks]
- Chromosome:
- 11:6607404
(GRCh38)
11:6628634
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6607401:TTGTT:TT
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0.000071/1
(
ALFA)
-=0.000029/4
(GnomAD)
-=0.000049/13
(TOPMED)
- HGVS:
15.
rs1488598812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6604358
(GRCh38)
11:6625588
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6604357:G:A
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,5_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000011.10:g.6604358G>A, NC_000011.9:g.6625588G>A, NG_029702.1:g.5625G>A, NM_004517.4:c.87G>A, NM_004517.3:c.87G>A, NM_001014795.3:c.87G>A, NM_001014795.2:c.87G>A, NM_001014794.3:c.87G>A, NM_001014794.2:c.87G>A, NM_001278441.2:c.87G>A, NM_001278441.1:c.87G>A, NM_001278442.2:c.-150G>A, NM_001278442.1:c.-150G>A, XM_005252904.6:c.87G>A, XM_005252904.5:c.87G>A, XM_005252904.4:c.87G>A, XM_005252904.3:c.87G>A, XM_005252904.2:c.87G>A, XM_005252904.1:c.87G>A, XM_024448499.2:c.-186G>A, XM_024448499.1:c.-186G>A, XM_011520065.2:c.87G>A, XM_011520065.1:c.87G>A, XM_024448498.2:c.-95G>A, XM_024448498.1:c.-95G>A, XM_047426885.1:c.-150G>A
16.
rs1488293859 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6603902
(GRCh38)
11:6625132
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6603901:G:A
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_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:
17.
rs1488141702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:6610758
(GRCh38)
11:6631989
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6610757:C:G
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000011/3
(TOPMED)
- HGVS:
NC_000011.10:g.6610758C>G, NC_000011.9:g.6631989C>G, NG_029702.1:g.12026C>G, NM_004517.4:c.*147C>G, NM_004517.3:c.*147C>G, NM_001014795.3:c.*147C>G, NM_001014795.2:c.*147C>G, NM_001014794.3:c.*147C>G, NM_001014794.2:c.*147C>G, NM_001278441.2:c.*147C>G, NM_001278441.1:c.*147C>G, NM_001278442.2:c.*147C>G, NM_001278442.1:c.*147C>G, XM_005252904.6:c.*147C>G, XM_005252904.5:c.*147C>G, XM_005252904.4:c.*147C>G, XM_005252904.3:c.*147C>G, XM_005252904.2:c.*147C>G, XM_005252904.1:c.*147C>G, NM_006284.4:c.*164G>C, XM_024448499.2:c.*147C>G, XM_024448499.1:c.*147C>G, XM_011520065.2:c.*147C>G, XM_011520065.1:c.*147C>G, XM_024448498.2:c.*147C>G, XM_024448498.1:c.*147C>G, XM_047426885.1:c.*147C>G
18.
rs1488044295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 11:6602127
(GRCh38)
11:6623357
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6602126:T:A
- Gene:
- ILK (Varview), RRP8 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1487956352 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:6606028
(GRCh38)
11:6627258
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6606027:G:A
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- downstream_transcript_variant,intron_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
20.
rs1487816908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:6606420
(GRCh38)
11:6627650
(GRCh37)
- Canonical SPDI:
- NC_000011.10:6606419:T:C
- Gene:
- ILK (Varview), TAF10 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,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: