Links from Gene
Items: 1 to 20 of 3712
2.
rs1491002523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77389819
(GRCh38)
14:77856162
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77389818:C:T
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490983379 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77387699
(GRCh38)
14:77854042
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77387698:G:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
4.
rs1490862730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77389028
(GRCh38)
14:77855371
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77389027:A:G
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.000014/2
(GnomAD)
G=0.000177/3
(TOMMO)
- HGVS:
5.
rs1490798006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:77381826
(GRCh38)
14:77848169
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77381825:G:A
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490650908 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:77379991
(GRCh38)
14:77846334
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77379990:T:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
8.
rs1490517990 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77378995
(GRCh38)
14:77845338
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77378994:A:G
- Gene:
- SAMD15 (Varview), TMED8 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490320944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77381098
(GRCh38)
14:77847441
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77381097:C:T
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
10.
rs1490243232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:77378021
(GRCh38)
14:77844364
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77378020:T:G
- Gene:
- SAMD15 (Varview), TMED8 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1489678880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:77391022
(GRCh38)
14:77857365
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77391021:T:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489309893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:77380466
(GRCh38)
14:77846809
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77380465:C:G,NC_000014.9:77380465:C:T
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
T=0.001638/3
(Korea1K)
T=0.001711/5
(KOREAN)
- HGVS:
NC_000014.9:g.77380466C>G, NC_000014.9:g.77380466C>T, NC_000014.8:g.77846809C>G, NC_000014.8:g.77846809C>T, NM_001010860.4:c.1773C>G, NM_001010860.4:c.1773C>T, NM_001010860.3:c.1773C>G, NM_001010860.3:c.1773C>T, NM_001010860.2:c.1773C>G, NM_001010860.2:c.1773C>T, NM_001010860.1:c.1773C>G, NM_001010860.1:c.1773C>T, NP_001010860.1:p.Asn591Lys
14.
rs1489144054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 14:77383721
(GRCh38)
14:77850064
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77383720:C:G,NC_000014.9:77383720:C:T
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
G=0.000156/1
(1000Genomes)
- HGVS:
15.
rs1488924951 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:77390926
(GRCh38)
14:77857269
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77390925:G:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
16.
rs1488669284 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:77386824
(GRCh38)
14:77853167
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77386823:T:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488561018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:77381703
(GRCh38)
14:77848046
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77381702:C:T
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1488525365 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:77382736
(GRCh38)
14:77849079
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77382735:G:A
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
A=0.001027/3
(KOREAN)
- HGVS:
19.
rs1488444827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:77391210
(GRCh38)
14:77857553
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77391209:A:G
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
20.
rs1488350934 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:77382407
(GRCh38)
14:77848750
(GRCh37)
- Canonical SPDI:
- NC_000014.9:77382406:G:A,NC_000014.9:77382406:G:C
- Gene:
- SAMD15 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS: