Links from Gene
Items: 1 to 20 of 1854
1.
rs1490840259 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223601722
(GRCh38)
2:224466440
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223601721:T:C
- Gene:
- SCG2 (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:
3.
rs1490457484 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:223598750
(GRCh38)
2:224463468
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223598749:G:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
4.
rs1489165316 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 2:223598073
(GRCh38)
2:224462791
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223598072:G:A,NC_000002.12:223598072:G:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
NC_000002.12:g.223598073G>A, NC_000002.12:g.223598073G>C, NC_000002.11:g.224462791G>A, NC_000002.11:g.224462791G>C, NG_027998.1:g.9427C>T, NG_027998.1:g.9427C>G, NM_003469.5:c.1210C>T, NM_003469.5:c.1210C>G, NM_003469.4:c.1210C>T, NM_003469.4:c.1210C>G, NP_003460.2:p.Leu404Val
5.
rs1488939597 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:223601573
(GRCh38)
2:224466291
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223601572:A:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
6.
rs1488931469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 2:223597777
(GRCh38)
2:224462495
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223597776:T:C,NC_000002.12:223597776:T:G
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- synonymous_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0002/1
(1000Genomes)
- HGVS:
NC_000002.12:g.223597777T>C, NC_000002.12:g.223597777T>G, NC_000002.11:g.224462495T>C, NC_000002.11:g.224462495T>G, NG_027998.1:g.9723A>G, NG_027998.1:g.9723A>C, NM_003469.5:c.1506A>G, NM_003469.5:c.1506A>C, NM_003469.4:c.1506A>G, NM_003469.4:c.1506A>C, NP_003460.2:p.Gln502His
7.
rs1488568522 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:223603214
(GRCh38)
2:224467932
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223603213:A:G
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488174928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223599866
(GRCh38)
2:224464584
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223599865:T:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000014/2
(GnomAD)
- HGVS:
10.
rs1487922968 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223604295
(GRCh38)
2:224469013
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223604294:T:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487024811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 2:223599422
(GRCh38)
2:224464140
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223599421:T:A
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000015/4
(TOPMED)
- HGVS:
12.
rs1486362290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:223598501
(GRCh38)
2:224463219
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223598500:G:A
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000004/1
(GnomAD_exomes)
A=0.000035/1
(TOMMO)
- HGVS:
13.
rs1485956403 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 2:223596922
(GRCh38)
2:224461640
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223596921:A:G
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
14.
rs1485578230 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 2:223597691
(GRCh38)
2:224462409
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223597690:C:A
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
A=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1484829812 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223596539
(GRCh38)
2:224461257
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223596538:T:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,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:
16.
rs1484679786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:223597411
(GRCh38)
2:224462129
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223597410:G:A
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
17.
rs1484679514 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:223596818
(GRCh38)
2:224461536
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223596817:C:T
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000011/3
(TOPMED)
- HGVS:
18.
rs1483419535 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 2:223597532
(GRCh38)
2:224462250
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223597531:T:G
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
- HGVS:
19.
rs1482622095 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:223603539
(GRCh38)
2:224468257
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223603538:T:C
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000015/4
(TOPMED)
- HGVS:
20.
rs1482600600 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:223603434
(GRCh38)
2:224468152
(GRCh37)
- Canonical SPDI:
- NC_000002.12:223603433:C:T
- Gene:
- SCG2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: