Links from Protein
Items: 1 to 20 of 333
1.
rs1489533252 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:81930114
(GRCh38)
9:84545029
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81930113:C:T
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00067/8
(
ALFA)
T=0.00012/2
(GnomAD_exomes)
T=0.00141/9
(1000Genomes)
T=0.00173/12
(GnomAD)
- HGVS:
2.
rs1489399998 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 9:81930160
(GRCh38)
9:84545075
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81930159:G:C
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.00006/1
(GnomAD)
- HGVS:
3.
rs1488944471 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 9:81932548
(GRCh38)
9:84547463
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932547:C:A
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
5.
rs1486555718 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:81932575
(GRCh38)
9:84547490
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932574:A:G
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000009/2
(GnomAD_exomes)
- HGVS:
7.
rs1479729160 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:81932645
(GRCh38)
9:84547560
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932644:A:G
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
8.
rs1476062630 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:81932541
(GRCh38)
9:84547456
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932540:C:G
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
10.
rs1474424626 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:81932233
(GRCh38)
9:84547148
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932232:G:A
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.00002/1
(GnomAD_exomes)
- HGVS:
11.
rs1473829021 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:81932243
(GRCh38)
9:84547158
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932242:G:T
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/1
(GnomAD)
T=0.00004/2
(GnomAD_exomes)
- HGVS:
12.
rs1472847919 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 9:81932547
(GRCh38)
9:84547462
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932546:T:C
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000008/1
(GnomAD)
C=0.000009/2
(GnomAD_exomes)
- HGVS:
13.
rs1471346369 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:81932462
(GRCh38)
9:84547377
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932461:G:T
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000009/1
(GnomAD)
- HGVS:
14.
rs1470859583 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:81932806
(GRCh38)
9:84547721
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932805:G:A
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1470589893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 9:81932481
(GRCh38)
9:84547396
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932480:C:G
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000009/1
(GnomAD)
- HGVS:
16.
rs1469872321 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 9:81932699
(GRCh38)
9:84547614
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932698:T:G
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000084/1
(
ALFA)
G=0.00004/5
(GnomAD)
- HGVS:
17.
rs1468535707 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:81932914
(GRCh38)
9:84547829
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932913:G:A
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- terminator_codon_variant,synonymous_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000006/1
(GnomAD_exomes)
- HGVS:
18.
rs1467630250 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 9:81932488
(GRCh38)
9:84547403
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932487:C:G,NC_000009.12:81932487:C:T
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
19.
rs1466353395 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 9:81932628
(GRCh38)
9:84547543
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81932627:C:A,NC_000009.12:81932627:C:T
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
A=0.000008/1
(GnomAD)
- HGVS:
20.
rs1465390109 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 9:81931973
(GRCh38)
9:84546888
(GRCh37)
- Canonical SPDI:
- NC_000009.12:81931971:ATA:A
- Gene:
- SPATA31D4 (Varview), LOC105376108 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant,intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency
- MAF:
-=0.00005/1
(GnomAD_exomes)
- HGVS: