Links from Gene
Items: 1 to 20 of 1276
1.
rs1491395914 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->TTTAG,TTTTTTTTTTTGG
[Show Flanks]
- Chromosome:
- 3:155290420
(GRCh38)
3:155008210
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290420::TTTAG,NC_000003.12:155290420::TTTTTTTTTTTGG
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by cluster
- MAF:
TTTAG=0.00006/1
(TOMMO)
- HGVS:
3.
rs1490438246 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:155289739
(GRCh38)
3:155007528
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155289738:T:C
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1490294065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:155293054
(GRCh38)
3:155010843
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155293053:A:G
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
G=0.000029/4
(GnomAD)
- HGVS:
5.
rs1490202144 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGA>-
[Show Flanks]
- Chromosome:
- 3:155295415
(GRCh38)
3:155013204
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155295407:AAGAAGAAGA:AAGAAGA
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAGAAGA=0./0
(
ALFA)
-=0.000049/13
(TOPMED)
-=0.000078/11
(GnomAD)
- HGVS:
6.
rs1488321400 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:155290440
(GRCh38)
3:155008229
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290439:C:A
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000061/1
(
ALFA)
A=0.000029/3
(GnomAD)
A=0.000225/1
(Estonian)
- HGVS:
7.
rs1487921728 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 3:155293644
(GRCh38)
3:155011433
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155293643:G:A,NC_000003.12:155293643:G:C,NC_000003.12:155293643:G:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
NC_000003.12:g.155293644G>A, NC_000003.12:g.155293644G>C, NC_000003.12:g.155293644G>T, NC_000003.11:g.155011433G>A, NC_000003.11:g.155011433G>C, NC_000003.11:g.155011433G>T, NM_001352129.2:c.-12C>T, NM_001352129.2:c.-12C>G, NM_001352129.2:c.-12C>A, NM_001352129.1:c.-12C>T, NM_001352129.1:c.-12C>G, NM_001352129.1:c.-12C>A, NR_037902.1:n.57C>T, NR_037902.1:n.57C>G, NR_037902.1:n.57C>A
8.
rs1487832835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:155290351
(GRCh38)
3:155008140
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290350:G:A
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000035/1
(TOMMO)
- HGVS:
9.
rs1486903567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:155293482
(GRCh38)
3:155011271
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155293481:C:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000142/2
(
ALFA)
T=0.000042/11
(TOPMED)
T=0.000043/6
(GnomAD)
- HGVS:
10.
rs1485174571 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:155294237
(GRCh38)
3:155012026
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155294236:C:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
11.
rs1485033117 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 3:155293281
(GRCh38)
3:155011070
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155293280:C:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1484931479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:155293117
(GRCh38)
3:155010906
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155293116:A:G
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1483651975 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:155292144
(GRCh38)
3:155009933
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155292143:T:C
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 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:
15.
rs1482162395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G,T
[Show Flanks]
- Chromosome:
- 3:155290425
(GRCh38)
3:155008214
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290424:A:C,NC_000003.12:155290424:A:G,NC_000003.12:155290424:A:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
NC_000003.12:g.155290425A>C, NC_000003.12:g.155290425A>G, NC_000003.12:g.155290425A>T, NC_000003.11:g.155008214A>C, NC_000003.11:g.155008214A>G, NC_000003.11:g.155008214A>T, NM_001352129.2:c.*426T>G, NM_001352129.2:c.*426T>C, NM_001352129.2:c.*426T>A, NM_001352129.1:c.*426T>G, NM_001352129.1:c.*426T>C, NM_001352129.1:c.*426T>A, NR_037902.1:n.602T>G, NR_037902.1:n.602T>C, NR_037902.1:n.602T>A
16.
rs1482114482 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 3:155291528
(GRCh38)
3:155009317
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155291527:G:T
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
17.
rs1482102310 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:155290007
(GRCh38)
3:155007796
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290006:A:G
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
18.
rs1481632961 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G
[Show Flanks]
- Chromosome:
- 3:155292775
(GRCh38)
3:155010564
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155292774:C:A,NC_000003.12:155292774:C:G
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
19.
rs1481279834 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 3:155290301
(GRCh38)
3:155008090
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155290300:T:A
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- 3_prime_UTR_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:
20.
rs1480643091 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 3:155289841
(GRCh38)
3:155007630
(GRCh37)
- Canonical SPDI:
- NC_000003.12:155289840:T:C
- Gene:
- STRIT1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
- HGVS: