Links from Gene
Items: 1 to 20 of 8344
1.
rs1491560964 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 12:50939912
(GRCh38)
12:51333695
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50939911:AT:
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000009/1
(GnomAD)
- HGVS:
2.
rs1491388635 has merged into rs35764288 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 12:50963379
(GRCh38)
12:51357162
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:50963369:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAA=0./0
(
ALFA)
-=0.225/9
(GENOME_DK)
- HGVS:
NC_000012.12:g.50963379_50963393del, NC_000012.12:g.50963380_50963393del, NC_000012.12:g.50963381_50963393del, NC_000012.12:g.50963382_50963393del, NC_000012.12:g.50963383_50963393del, NC_000012.12:g.50963384_50963393del, NC_000012.12:g.50963385_50963393del, NC_000012.12:g.50963386_50963393del, NC_000012.12:g.50963387_50963393del, NC_000012.12:g.50963388_50963393del, NC_000012.12:g.50963389_50963393del, NC_000012.12:g.50963390_50963393del, NC_000012.12:g.50963391_50963393del, NC_000012.12:g.50963392_50963393del, NC_000012.12:g.50963393del, NC_000012.12:g.50963393dup, NC_000012.12:g.50963392_50963393dup, NC_000012.12:g.50963391_50963393dup, NC_000012.12:g.50963390_50963393dup, NC_000012.12:g.50963389_50963393dup, NC_000012.12:g.50963388_50963393dup, NC_000012.12:g.50963387_50963393dup, NC_000012.12:g.50963386_50963393dup, NC_000012.12:g.50963385_50963393dup, NC_000012.12:g.50963384_50963393dup, NC_000012.12:g.50963383_50963393dup, NC_000012.12:g.50963382_50963393dup, NC_000012.12:g.50963381_50963393dup, NC_000012.12:g.50963380_50963393dup, NC_000012.12:g.50963379_50963393dup, NC_000012.12:g.50963378_50963393dup, NC_000012.12:g.50963377_50963393dup, NC_000012.12:g.50963372_50963393dup, NC_000012.11:g.51357162_51357176del, NC_000012.11:g.51357163_51357176del, NC_000012.11:g.51357164_51357176del, NC_000012.11:g.51357165_51357176del, NC_000012.11:g.51357166_51357176del, NC_000012.11:g.51357167_51357176del, NC_000012.11:g.51357168_51357176del, NC_000012.11:g.51357169_51357176del, NC_000012.11:g.51357170_51357176del, NC_000012.11:g.51357171_51357176del, NC_000012.11:g.51357172_51357176del, NC_000012.11:g.51357173_51357176del, NC_000012.11:g.51357174_51357176del, NC_000012.11:g.51357175_51357176del, NC_000012.11:g.51357176del, NC_000012.11:g.51357176dup, NC_000012.11:g.51357175_51357176dup, NC_000012.11:g.51357174_51357176dup, NC_000012.11:g.51357173_51357176dup, NC_000012.11:g.51357172_51357176dup, NC_000012.11:g.51357171_51357176dup, NC_000012.11:g.51357170_51357176dup, NC_000012.11:g.51357169_51357176dup, NC_000012.11:g.51357168_51357176dup, NC_000012.11:g.51357167_51357176dup, NC_000012.11:g.51357166_51357176dup, NC_000012.11:g.51357165_51357176dup, NC_000012.11:g.51357164_51357176dup, NC_000012.11:g.51357163_51357176dup, NC_000012.11:g.51357162_51357176dup, NC_000012.11:g.51357161_51357176dup, NC_000012.11:g.51357160_51357176dup, NC_000012.11:g.51357155_51357176dup
4.
rs1491329865 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TCA
[Show Flanks]
- Chromosome:
- 12:50942160
(GRCh38)
12:51335944
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50942160::TCA
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
TCA=0.000727/102
(GnomAD)
TCA=0.001874/12
(1000Genomes)
- HGVS:
5.
rs1491263199 has merged into rs35747166 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:50939924
(GRCh38)
12:51333707
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:50939912:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000012.12:g.50939924_50939929del, NC_000012.12:g.50939925_50939929del, NC_000012.12:g.50939926_50939929del, NC_000012.12:g.50939927_50939929del, NC_000012.12:g.50939928_50939929del, NC_000012.12:g.50939929del, NC_000012.12:g.50939929dup, NC_000012.12:g.50939928_50939929dup, NC_000012.12:g.50939927_50939929dup, NC_000012.12:g.50939920_50939929dup, NC_000012.11:g.51333707_51333712del, NC_000012.11:g.51333708_51333712del, NC_000012.11:g.51333709_51333712del, NC_000012.11:g.51333710_51333712del, NC_000012.11:g.51333711_51333712del, NC_000012.11:g.51333712del, NC_000012.11:g.51333712dup, NC_000012.11:g.51333711_51333712dup, NC_000012.11:g.51333710_51333712dup, NC_000012.11:g.51333703_51333712dup
6.
rs1491243325 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 12:50962232
(GRCh38)
12:51356015
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50962231:TA:
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000019/2
(GnomAD)
- HGVS:
7.
rs1490973587 has merged into rs1555212757 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAGGAGGAGGAGGAG>-,AAGGAGGAGGAGGAGAAGGAGGAGGAGGAG
[Show Flanks]
- Chromosome:
- 12:50968102
(GRCh38)
12:51361885
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50968099:AGAAGGAGGAGGAGGAG:AG,NC_000012.12:50968099:AGAAGGAGGAGGAGGAG:AGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
AGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAG=0./0
(
ALFA)
- HGVS:
8.
rs1490730395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50952182
(GRCh38)
12:51345965
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50952181:A:G
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000034/9
(TOPMED)
- HGVS:
9.
rs1490603970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:50943009
(GRCh38)
12:51336792
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50943008:G:C
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490565258 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50962629
(GRCh38)
12:51356412
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50962628:A:G
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490514569 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:50960894
(GRCh38)
12:51354677
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50960893:G:A
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000022/3
(GnomAD)
- HGVS:
13.
rs1490477705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:50942889
(GRCh38)
12:51336672
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50942888:C:T
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000031/4
(GnomAD)
T=0.00006/1
(TOMMO)
- HGVS:
14.
rs1490311227 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50945134
(GRCh38)
12:51338917
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50945133:A:G
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
16.
rs1490189274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:50962872
(GRCh38)
12:51356655
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50962871:A:C
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_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:
17.
rs1490118408 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:50947466
(GRCh38)
12:51341249
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50947465:A:C
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490006798 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:50935501
(GRCh38)
12:51329284
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50935500:T:C
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1489956677 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 12:50946264
(GRCh38)
12:51340047
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50946263:A:C
- Gene:
- HIGD1C (Varview)
- Functional Consequence:
- genic_upstream_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)
- HGVS:
20.
rs1489927452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:50951801
(GRCh38)
12:51345584
(GRCh37)
- Canonical SPDI:
- NC_000012.12:50951800:A:G
- Gene:
- SLC11A2 (Varview), HIGD1C (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_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)
G=0.000177/3
(TOMMO)
- HGVS: