Links from Gene
Items: 1 to 20 of 9750
3.
rs1491522903 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:13481787
(GRCh38)
1:13808242
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13481787::T
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.00448/103
(GnomAD)
T=0.00569/10
(Korea1K)
T=0.01017/286
(TOMMO)
- HGVS:
5.
rs1491442376 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C
[Show Flanks]
- Chromosome:
- 1:13481788
(GRCh38)
1:13808242
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13481786:CCC:C,NC_000001.11:13481786:CCC:CC
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.00025/3
(
ALFA)
-=0.00169/1
(NorthernSweden)
-=0.0128/201
(TOMMO)
-=0.01767/31
(Korea1K)
-=0.02725/646
(GnomAD)
- HGVS:
8.
rs1491234075 has merged into rs79709070 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:13482591
(GRCh38)
1:13809045
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:13482581:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.13482591_13482597del, NC_000001.11:g.13482594_13482597del, NC_000001.11:g.13482595_13482597del, NC_000001.11:g.13482596_13482597del, NC_000001.11:g.13482597del, NC_000001.11:g.13482597dup, NC_000001.11:g.13482596_13482597dup, NC_000001.10:g.13809045_13809051del, NC_000001.10:g.13809048_13809051del, NC_000001.10:g.13809049_13809051del, NC_000001.10:g.13809050_13809051del, NC_000001.10:g.13809051del, NC_000001.10:g.13809051dup, NC_000001.10:g.13809050_13809051dup
9.
rs1491191364 has merged into rs112781450 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:13498256
(GRCh38)
1:13824708
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13498249:AAAAAAAAAAA:AAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13498249:AAAAAAAAAAA:AAAAAAAAAAAAAAAAA
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAA=0./0
(
ALFA)
-=0.25/10
(GENOME_DK)
-=0.283333/170
(NorthernSweden)
-=0.328324/86904
(TOPMED)
-=0.420727/2107
(1000Genomes)
- HGVS:
NC_000001.11:g.13498256_13498260del, NC_000001.11:g.13498257_13498260del, NC_000001.11:g.13498258_13498260del, NC_000001.11:g.13498259_13498260del, NC_000001.11:g.13498260del, NC_000001.11:g.13498260dup, NC_000001.11:g.13498259_13498260dup, NC_000001.11:g.13498255_13498260dup, NC_000001.10:g.13824708_13824712del, NC_000001.10:g.13824709_13824712del, NC_000001.10:g.13824710_13824712del, NC_000001.10:g.13824711_13824712del, NC_000001.10:g.13824712del, NC_000001.10:g.13824712dup, NC_000001.10:g.13824711_13824712dup, NC_000001.10:g.13824707_13824712dup
10.
rs1491191344 has merged into rs33912498 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:13500266
(GRCh38)
1:13826718
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:13500254:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.13500266_13500269del, NC_000001.11:g.13500267_13500269del, NC_000001.11:g.13500268_13500269del, NC_000001.11:g.13500269del, NC_000001.11:g.13500269dup, NC_000001.11:g.13500268_13500269dup, NC_000001.11:g.13500267_13500269dup, NC_000001.11:g.13500264_13500269dup, NC_000001.10:g.13826718_13826719dup, NC_000001.10:g.13826718_13826719del, NC_000001.10:g.13826719del, NC_000001.10:g.13826719dup, NC_000001.10:g.13826717_13826719dup, NC_000001.10:g.13826716_13826719dup, NC_000001.10:g.13826715_13826719dup, NC_000001.10:g.13826712_13826719dup
12.
rs1491108574 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:13488031
(GRCh38)
1:13814486
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13488031::G
- Gene:
- LRRC38 (Varview), LOC102724856 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.001121/5
(
ALFA)
G=0.000248/4
(TOMMO)
G=0.002199/249
(GnomAD)
- HGVS:
13.
rs1491081475 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 1:13504864
(GRCh38)
1:13831331
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13504864::G
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000008/1
(GnomAD)
- HGVS:
14.
rs1491057776 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T,TTTT
[Show Flanks]
- Chromosome:
- 1:13481761
(GRCh38)
1:13808232
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13481761::T,NC_000001.11:13481761::TTTT
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
T=0.00008/4
(GnomAD)
T=0.00018/3
(TOMMO)
- HGVS:
15.
rs1490994609 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:13492014
(GRCh38)
1:13818466
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13492013:T:C
- Gene:
- LRRC38 (Varview), LOC102724856 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490978126 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:13478777
(GRCh38)
1:13805245
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13478776:T:C
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1490970822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 1:13496037
(GRCh38)
1:13822489
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13496036:T:G
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490936393 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:13479152
(GRCh38)
1:13805620
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13479151:T:C
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000026/7
(TOPMED)
- HGVS:
19.
rs1490725274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:13493751
(GRCh38)
1:13820203
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13493750:T:C
- Gene:
- LRRC38 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.0002/1
(
ALFA)
C=0.0002/1
(Estonian)
- HGVS:
20.
rs1490715285 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:13484949
(GRCh38)
1:13811403
(GRCh37)
- Canonical SPDI:
- NC_000001.11:13484948:T:C
- Gene:
- LRRC38 (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: