Links from Gene
Items: 1 to 20 of 865
1.
rs1491487883 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 9:67009406
(GRCh38)
9:40683434
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67009405:CA:
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
TG=0.99876/16082
(TOMMO)
- HGVS:
3.
rs1491039364 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 9:67007769
(GRCh38)
9:40685071
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67007768:AG:
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000018/2
(GnomAD)
- HGVS:
4.
rs1489820508 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:67008908
(GRCh38)
9:40683933
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008907:C:G
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
5.
rs1489686835 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:67009201
(GRCh38)
9:40683640
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67009200:C:A,NC_000009.12:67009200:C:T
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.00001/1
(GnomAD)
- HGVS:
6.
rs1488820590 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:67008257
(GRCh38)
9:40684584
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008256:G:A
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.00034/4
(
ALFA)
A=0.00033/31
(GnomAD)
- HGVS:
7.
rs1488771473 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- 9:67009681
(GRCh38)
9:40683159
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67009680:AA:
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
-=0.00003/1
(GnomAD)
- HGVS:
8.
rs1488118479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 9:67008521
(GRCh38)
9:40684320
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008520:A:T
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000422/5
(
ALFA)
T=0.000737/67
(GnomAD)
T=0.000824/218
(TOPMED)
- HGVS:
11.
rs1485991430 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:67009947
(GRCh38)
9:40682894
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67009946:T:C
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000008/1
(GnomAD)
- HGVS:
14.
rs1484033499 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:67008754
(GRCh38)
9:40684087
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008753:C:T
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000016/2
(GnomAD)
- HGVS:
15.
rs1484022363 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:67010276
(GRCh38)
9:40682565
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67010275:C:A,NC_000009.12:67010275:C:T
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00327/53
(
ALFA)
A=0.00002/1
(GnomAD)
G=0.5/1
(SGDP_PRJ)
- HGVS:
16.
rs1483779740 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,G
[Show Flanks]
- Chromosome:
- 9:67008900
(GRCh38)
9:40683941
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008899:T:A,NC_000009.12:67008899:T:G
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
G=0.000015/2
(GnomAD)
G=0.000156/1
(1000Genomes)
- HGVS:
18.
rs1483177322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:67008903
(GRCh38)
9:40683938
(GRCh37)
- Canonical SPDI:
- NC_000009.12:67008902:G:A
- Gene:
- LOC105379450 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000337/4
(
ALFA)
A=0.000035/1
(TOMMO)
A=0.000745/101
(GnomAD)
- HGVS: