Links from Gene
Items: 1 to 20 of 2306
2.
rs1490694079 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 3:51903105
(GRCh38)
3:51937121
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51903104:GGGG:GGG
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0.000224/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000223/1
(Estonian)
- HGVS:
3.
rs1490682897 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:51900103
(GRCh38)
3:51934119
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51900102:C:A
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
4.
rs1490352936 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 3:51895050
(GRCh38)
3:51929066
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51895049:A:T
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1490330784 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 3:51904628
(GRCh38)
3:51938644
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51904625:TGTG:TG
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTG=0.000142/2
(
ALFA)
-=0.000014/2
(GnomAD)
-=0.000015/4
(TOPMED)
- HGVS:
6.
rs1490160095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 3:51895327
(GRCh38)
3:51929343
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51895326:T:G
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1489500966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:51898301
(GRCh38)
3:51932317
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51898300:T:C
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489447795 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:51899332
(GRCh38)
3:51933348
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51899331:A:G
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489048925 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:51899199
(GRCh38)
3:51933215
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51899198:A:G
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
10.
rs1488841039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 3:51902915
(GRCh38)
3:51936931
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51902914:C:G
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
11.
rs1488664292 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:51896703
(GRCh38)
3:51930719
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51896702:A:G
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000061/1
(
ALFA)
G=0.000015/2
(GnomAD)
- HGVS:
12.
rs1487523193 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:51897871
(GRCh38)
3:51931887
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51897870:G:T
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_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:
13.
rs1486559752 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:51896971
(GRCh38)
3:51930987
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51896970:T:C
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486508911 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:51897981
(GRCh38)
3:51931997
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51897980:C:T
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
15.
rs1486018691 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:51894526
(GRCh38)
3:51928542
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51894525:C:A
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1485992623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 3:51900137
(GRCh38)
3:51934153
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51900136:A:C
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1485544432 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:51896953
(GRCh38)
3:51930969
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51896952:G:A
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
18.
rs1485362954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:51904269
(GRCh38)
3:51938285
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51904268:G:A,NC_000003.12:51904268:G:C
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1485027742 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGTGGCTACCGTATCTT>-
[Show Flanks]
- Chromosome:
- 3:51895289
(GRCh38)
3:51929305
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51895283:ATCTTGGTGGCTACCGTATCTT:ATCTT
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa
- MAF:
ATCTT=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
20.
rs1485019327 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:51895552
(GRCh38)
3:51929568
(GRCh37)
- Canonical SPDI:
- NC_000003.12:51895551:G:A
- Gene:
- IQCF1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000224/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS: