Links from Gene
Items: 1 to 20 of 4229
1.
rs1490959157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 9:88131265
(GRCh38)
9:90746180
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88131264:A:C
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
C=0.000004/1
(GnomAD_exomes)
- HGVS:
2.
rs1490784712 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C,T
[Show Flanks]
- Chromosome:
- 9:88136169
(GRCh38)
9:90751084
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88136168:G:A,NC_000009.12:88136168:G:C,NC_000009.12:88136168:G:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
T=0.000039/5
(GnomAD)
T=0.000991/17
(TOMMO)
T=0.002399/7
(KOREAN)
- HGVS:
3.
rs1490583330 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:88135851
(GRCh38)
9:90750766
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88135850:C:G,NC_000009.12:88135850:C:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/1
(GnomAD)
- HGVS:
5.
rs1490516617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:88135402
(GRCh38)
9:90750317
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88135401:C:G
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.00004/1
(TOMMO)
- HGVS:
6.
rs1490179488 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 9:88129915
(GRCh38)
9:90744830
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88129914:TTTTTT:TTTTT,NC_000009.12:88129914:TTTTTT:TTTTTTT
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000009.12:g.88129920del, NC_000009.12:g.88129920dup, NC_000009.11:g.90744835del, NC_000009.11:g.90744835dup, NM_001350978.3:c.3122del, NM_001350978.3:c.3122dup, NM_001350978.2:c.3122del, NM_001350978.2:c.3122dup, NM_001350978.1:c.3122del, NM_001350978.1:c.3122dup, NM_001166137.1:c.3122del, NM_001166137.1:c.3122dup, NP_001337907.1:p.Asn1041fs, NP_001337907.1:p.Asn1041fs, NP_001159609.1:p.Asn1041fs, NP_001159609.1:p.Asn1041fs
7.
rs1490064658 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:88129188
(GRCh38)
9:90744103
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88129187:G:A
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000084/1
(
ALFA)
A=0.00002/2
(GnomAD)
- HGVS:
8.
rs1490023244 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:88137795
(GRCh38)
9:90752710
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88137794:C:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00438/52
(
ALFA)
C=0./0
(SGDP_PRJ)
T=0.00176/119
(GnomAD)
T=0.01031/66
(1000Genomes)
- HGVS:
9.
rs1489914538 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:88131024
(GRCh38)
9:90745939
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88131023:G:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489684274 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:88139060
(GRCh38)
9:90753975
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88139059:G:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
- HGVS:
11.
rs1489523095 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 9:88132869
(GRCh38)
9:90747784
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88132868:T:
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000019/2
(GnomAD)
- HGVS:
12.
rs1489504056 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:88136948
(GRCh38)
9:90751863
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88136947:T:C
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000017/2
(GnomAD)
- HGVS:
13.
rs1489479899 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:88130132
(GRCh38)
9:90745047
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88130131:C:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(GnomAD_exomes)
T=0.000008/2
(TOPMED)
- HGVS:
14.
rs1489270552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:88131763
(GRCh38)
9:90746678
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88131762:A:G
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
15.
rs1489190892 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:88133222
(GRCh38)
9:90748137
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88133221:C:A
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.00034/4
(
ALFA)
C=0./0
(SGDP_PRJ)
A=0.00189/28
(TOMMO)
A=0.00272/2
(Korea1K)
A=0.04494/103
(KOREAN)
- HGVS:
18.
rs1488431334 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CGGT>-
[Show Flanks]
- Chromosome:
- 9:88136349
(GRCh38)
9:90751264
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88136347:TCGGT:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488186783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:88135885
(GRCh38)
9:90750800
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88135884:G:T
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000169/2
(
ALFA)
T=0.000271/36
(GnomAD)
- HGVS:
20.
rs1488118198 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:88137208
(GRCh38)
9:90752123
(GRCh37)
- Canonical SPDI:
- NC_000009.12:88137207:C:G
- Gene:
- SPATA31C2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.000084/1
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: