Links from Gene
Items: 1 to 20 of 1012
1.
rs1489954649 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:80320809
(GRCh38)
5:79616628
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80320808:C:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000035/1
(TOMMO)
- HGVS:
2.
rs1489884632 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:80318904
(GRCh38)
5:79614723
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80318903:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489869869 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 5:80321890
(GRCh38)
5:79617709
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321889:G:A,NC_000005.10:80321889:G:C
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000079/21
(TOPMED)
- HGVS:
4.
rs1488782832 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 5:80321262
(GRCh38)
5:79617081
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321261:G:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
5.
rs1486895903 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:80320836
(GRCh38)
5:79616655
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80320835:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
6.
rs1485262104 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 5:80321397
(GRCh38)
5:79617216
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321396:T:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
...more- HGVS:
7.
rs1485197416 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 5:80318627
(GRCh38)
5:79614446
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80318626:G:
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.000071/1
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
8.
rs1483903291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:80321176
(GRCh38)
5:79616995
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321175:G:A
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
9.
rs1483717023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:80318812
(GRCh38)
5:79614631
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80318811:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000015/4
(TOPMED)
- HGVS:
10.
rs1481933490 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CAT
[Show Flanks]
- Chromosome:
- 5:80321575
(GRCh38)
5:79617395
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321575:TCAT:TCATCAT
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
TCATCAT=0./0
(
ALFA)
TCA=0.000011/3
(TOPMED)
- HGVS:
11.
rs1481690667 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 5:80318928
(GRCh38)
5:79614747
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80318927:G:A,NC_000005.10:80318927:G:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
A=0.000342/1
(KOREAN)
A=0.000546/1
(Korea1K)
...more- HGVS:
12.
rs1480351821 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:80321568
(GRCh38)
5:79617387
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321567:C:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000023/6
(TOPMED)
...more- HGVS:
13.
rs1479732591 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 5:80321618
(GRCh38)
5:79617437
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321617:C:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.000098/26
(TOPMED)
...more- HGVS:
14.
rs1479542267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:80319187
(GRCh38)
5:79615006
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80319186:C:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
...more- HGVS:
15.
rs1479475088 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 5:80318548
(GRCh38)
5:79614367
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80318547:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
16.
rs1479244483 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 5:80321900
(GRCh38)
5:79617719
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321899:A:C,NC_000005.10:80321899:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
...more- HGVS:
17.
rs1478259597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 5:80319299
(GRCh38)
5:79615118
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80319298:A:G,NC_000005.10:80319298:A:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
...more- HGVS:
19.
rs1475948308 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 5:80320929
(GRCh38)
5:79616748
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80320928:A:C,NC_000005.10:80320928:A:G
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
C=0.00004/1
(TOMMO)
- HGVS:
NC_000005.10:g.80320929A>C, NC_000005.10:g.80320929A>G, NC_000005.9:g.79616748A>C, NC_000005.9:g.79616748A>G, NG_030332.1:g.5959A>C, NG_030332.1:g.5959A>G, NM_032567.4:c.714A>C, NM_032567.4:c.714A>G, NM_032567.3:c.714A>C, NM_032567.3:c.714A>G, NP_115956.3:p.Glu238Asp ...more
20.
rs1475627951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:80321549
(GRCh38)
5:79617368
(GRCh37)
- Canonical SPDI:
- NC_000005.10:80321548:C:T
- Gene:
- SPZ1 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS: