Links from Gene
Items: 1 to 20 of 2334
1.
rs1491552065 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TA
[Show Flanks]
- Chromosome:
- 3:116366014
(GRCh38)
3:116084862
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116366014:A:ATA
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
ATA=0./0
(
ALFA)
AT=0.0001/2
(GnomAD)
- HGVS:
2.
rs1491334089 has merged into rs67452614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAATTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:116366020
(GRCh38)
3:116084867
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:116366013:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.116366020_116366039del, NC_000003.12:g.116366025_116366039del, NC_000003.12:g.116366026_116366039del, NC_000003.12:g.116366028_116366039del, NC_000003.12:g.116366029_116366039del, NC_000003.12:g.116366030_116366039del, NC_000003.12:g.116366031_116366039del, NC_000003.12:g.116366032_116366039del, NC_000003.12:g.116366033_116366039del, NC_000003.12:g.116366034_116366039del, NC_000003.12:g.116366035_116366039del, NC_000003.12:g.116366036_116366039del, NC_000003.12:g.116366037_116366039del, NC_000003.12:g.116366038_116366039del, NC_000003.12:g.116366039del, NC_000003.12:g.116366039dup, NC_000003.12:g.116366038_116366039dup, NC_000003.12:g.116366037_116366039dup, NC_000003.12:g.116366036_116366039dup, NC_000003.12:g.116366035_116366039dup, NC_000003.12:g.116366034_116366039dup, NC_000003.12:g.116366033_116366039dup, NC_000003.12:g.116366032_116366039dup, NC_000003.12:g.116366031_116366039dup, NC_000003.12:g.116366030_116366039dup, NC_000003.12:g.116366029_116366039dup, NC_000003.12:g.116366028_116366039dup, NC_000003.12:g.116366027_116366039dup, NC_000003.12:g.116366026_116366039dup, NC_000003.12:g.116366025_116366039dup, NC_000003.12:g.116366024_116366039dup, NC_000003.12:g.116366023_116366039dup, NC_000003.12:g.116366022_116366039dup, NC_000003.12:g.116366039_116366040insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.116366014_116366039A[34]TTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.116084867_116084886del, NC_000003.11:g.116084872_116084886del, NC_000003.11:g.116084873_116084886del, NC_000003.11:g.116084875_116084886del, NC_000003.11:g.116084876_116084886del, NC_000003.11:g.116084877_116084886del, NC_000003.11:g.116084878_116084886del, NC_000003.11:g.116084879_116084886del, NC_000003.11:g.116084880_116084886del, NC_000003.11:g.116084881_116084886del, NC_000003.11:g.116084882_116084886del, NC_000003.11:g.116084883_116084886del, NC_000003.11:g.116084884_116084886del, NC_000003.11:g.116084885_116084886del, NC_000003.11:g.116084886del, NC_000003.11:g.116084886dup, NC_000003.11:g.116084885_116084886dup, NC_000003.11:g.116084884_116084886dup, NC_000003.11:g.116084883_116084886dup, NC_000003.11:g.116084882_116084886dup, NC_000003.11:g.116084881_116084886dup, NC_000003.11:g.116084880_116084886dup, NC_000003.11:g.116084879_116084886dup, NC_000003.11:g.116084878_116084886dup, NC_000003.11:g.116084877_116084886dup, NC_000003.11:g.116084876_116084886dup, NC_000003.11:g.116084875_116084886dup, NC_000003.11:g.116084874_116084886dup, NC_000003.11:g.116084873_116084886dup, NC_000003.11:g.116084872_116084886dup, NC_000003.11:g.116084871_116084886dup, NC_000003.11:g.116084870_116084886dup, NC_000003.11:g.116084869_116084886dup, NC_000003.11:g.116084886_116084887insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.116084861_116084886A[34]TTATGAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
3.
rs1490879979 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 3:116370560
(GRCh38)
3:116089407
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116370559:T:C,NC_000003.12:116370559:T:G
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,downstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
5.
rs1490780634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- 3:116364484
(GRCh38)
3:116083331
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116364483:A:C,NC_000003.12:116364483:A:T
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0./0
(SGDP_PRJ)
T=0.00009/2
(GnomAD)
- HGVS:
10.
rs1489806702 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 3:116364201
(GRCh38)
3:116083048
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116364200:A:
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
11.
rs1489701534 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 3:116368276
(GRCh38)
3:116087123
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116368275:C:A,NC_000003.12:116368275:C:G
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
15.
rs1488894356 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:116366846
(GRCh38)
3:116085693
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116366845:G:A
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_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:
16.
rs1488679589 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 3:116369446
(GRCh38)
3:116088293
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116369445:TT:T
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000064/9
(GnomAD)
-=0.000079/21
(TOPMED)
- HGVS:
18.
rs1488127656 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:116360309
(GRCh38)
3:116079156
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116360308:G:A
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
G=0.5/1
(SGDP_PRJ)
- HGVS:
19.
rs1487791734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:116362740
(GRCh38)
3:116081587
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116362739:C:A
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.00002/2
(GnomAD)
A=0.0007/2
(KOREAN)
A=0.00168/3
(Korea1K)
A=0.00407/68
(TOMMO)
- HGVS:
20.
rs1487224429 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 3:116361137
(GRCh38)
3:116079984
(GRCh37)
- Canonical SPDI:
- NC_000003.12:116361136:G:C
- Gene:
- LSAMP (Varview), LSAMP-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.0003/3
(TOMMO)
- HGVS: