Links from Gene
Items: 1 to 20 of 933
1.
rs1490851519 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:44852728
(GRCh38)
15:45144926
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44852727:T:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.00006/1
(TOMMO)
- HGVS:
2.
rs1490183325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:44852623
(GRCh38)
15:45144821
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44852622:G:A
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
3.
rs1489329042 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:44854941
(GRCh38)
15:45147139
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44854940:G:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
4.
rs1489280328 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:44853568
(GRCh38)
15:45145766
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44853567:G:A
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
5.
rs1489229213 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 15:44857244
(GRCh38)
15:45149442
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44857243:AT:
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency
- MAF:
-=0.00159/44
(TOMMO)
- HGVS:
6.
rs1488641039 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 15:44853511
(GRCh38)
15:45145709
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44853510:G:A
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,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:
7.
rs1487695988 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 15:44854051
(GRCh38)
15:45146250
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44854051::A
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
A=0.000081/11
(GnomAD)
A=0.000156/1
(1000Genomes)
- HGVS:
8.
rs1487271959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:44854002
(GRCh38)
15:45146200
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44854001:T:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
9.
rs1486391452 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:44855271
(GRCh38)
15:45147469
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44855270:T:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000008/1
(GnomAD)
- HGVS:
10.
rs1485983670 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 15:44853787
(GRCh38)
15:45145985
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44853786:T:G
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1485708218 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 15:44856468
(GRCh38)
15:45148666
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44856467:G:T
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
13.
rs1485702847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:44854591
(GRCh38)
15:45146789
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44854590:T:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant,non_coding_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:
15.
rs1484892346 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 15:44853448
(GRCh38)
15:45145646
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44853447:G:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_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.
rs1484446974 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 15:44856469
(GRCh38)
15:45148667
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44856468:C:G
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
17.
rs1484194928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:44854090
(GRCh38)
15:45146288
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44854089:C:T
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
18.
rs1483565959 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 15:44855140
(GRCh38)
15:45147338
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44855139:A:G
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.00101/12
(
ALFA)
G=0.00078/5
(1000Genomes)
- HGVS:
19.
rs1481623080 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 15:44856313
(GRCh38)
15:45148511
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44856312:C:T
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000045/6
(GnomAD)
T=0.001093/7
(1000Genomes)
- HGVS:
20.
rs1480103468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 15:44853577
(GRCh38)
15:45145775
(GRCh37)
- Canonical SPDI:
- NC_000015.10:44853576:T:C
- Gene:
- SORD2P (Varview), LOC105370798 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS: