Links from Gene
Items: 1 to 20 of 1000
1.
rs1491335559 has merged into rs373647297 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:50637676
(GRCh38)
14:51104394
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:50637664:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
TTTTTTTTT=0.0065/3
(NorthernSweden)
- HGVS:
NC_000014.9:g.50637676_50637689del, NC_000014.9:g.50637679_50637689del, NC_000014.9:g.50637680_50637689del, NC_000014.9:g.50637681_50637689del, NC_000014.9:g.50637682_50637689del, NC_000014.9:g.50637683_50637689del, NC_000014.9:g.50637684_50637689del, NC_000014.9:g.50637685_50637689del, NC_000014.9:g.50637686_50637689del, NC_000014.9:g.50637687_50637689del, NC_000014.9:g.50637688_50637689del, NC_000014.9:g.50637689del, NC_000014.9:g.50637689dup, NC_000014.9:g.50637688_50637689dup, NC_000014.9:g.50637687_50637689dup, NC_000014.9:g.50637686_50637689dup, NC_000014.9:g.50637685_50637689dup, NC_000014.9:g.50637684_50637689dup, NC_000014.9:g.50637683_50637689dup, NC_000014.9:g.50637682_50637689dup, NC_000014.9:g.50637681_50637689dup, NC_000014.9:g.50637680_50637689dup, NC_000014.9:g.50637679_50637689dup, NC_000014.9:g.50637678_50637689dup, NC_000014.9:g.50637677_50637689dup, NC_000014.9:g.50637676_50637689dup, NC_000014.9:g.50637675_50637689dup, NC_000014.9:g.50637674_50637689dup, NC_000014.9:g.50637673_50637689dup, NC_000014.9:g.50637689_50637690insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.51104394_51104407del, NC_000014.8:g.51104397_51104407del, NC_000014.8:g.51104398_51104407del, NC_000014.8:g.51104399_51104407del, NC_000014.8:g.51104400_51104407del, NC_000014.8:g.51104401_51104407del, NC_000014.8:g.51104402_51104407del, NC_000014.8:g.51104403_51104407del, NC_000014.8:g.51104404_51104407del, NC_000014.8:g.51104405_51104407del, NC_000014.8:g.51104406_51104407del, NC_000014.8:g.51104407del, NC_000014.8:g.51104407dup, NC_000014.8:g.51104406_51104407dup, NC_000014.8:g.51104405_51104407dup, NC_000014.8:g.51104404_51104407dup, NC_000014.8:g.51104403_51104407dup, NC_000014.8:g.51104402_51104407dup, NC_000014.8:g.51104401_51104407dup, NC_000014.8:g.51104400_51104407dup, NC_000014.8:g.51104399_51104407dup, NC_000014.8:g.51104398_51104407dup, NC_000014.8:g.51104397_51104407dup, NC_000014.8:g.51104396_51104407dup, NC_000014.8:g.51104395_51104407dup, NC_000014.8:g.51104394_51104407dup, NC_000014.8:g.51104393_51104407dup, NC_000014.8:g.51104392_51104407dup, NC_000014.8:g.51104391_51104407dup, NC_000014.8:g.51104407_51104408insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_045326.1:g.404_417del, NG_045326.1:g.407_417del, NG_045326.1:g.408_417del, NG_045326.1:g.409_417del, NG_045326.1:g.410_417del, NG_045326.1:g.411_417del, NG_045326.1:g.412_417del, NG_045326.1:g.413_417del, NG_045326.1:g.414_417del, NG_045326.1:g.415_417del, NG_045326.1:g.416_417del, NG_045326.1:g.417del, NG_045326.1:g.417dup, NG_045326.1:g.416_417dup, NG_045326.1:g.415_417dup, NG_045326.1:g.414_417dup, NG_045326.1:g.413_417dup, NG_045326.1:g.412_417dup, NG_045326.1:g.411_417dup, NG_045326.1:g.410_417dup, NG_045326.1:g.409_417dup, NG_045326.1:g.408_417dup, NG_045326.1:g.407_417dup, NG_045326.1:g.406_417dup, NG_045326.1:g.405_417dup, NG_045326.1:g.404_417dup, NG_045326.1:g.403_417dup, NG_045326.1:g.402_417dup, NG_045326.1:g.401_417dup, NG_045326.1:g.417_418insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
3.
rs1491249768 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 14:50656440
(GRCh38)
14:51123158
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50656438:TAT:T
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.0213/79
(TWINSUK)
- HGVS:
5.
rs1491163842 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:50665195
(GRCh38)
14:51131913
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50665194:CT:
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- coding_sequence_variant,frameshift_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.00001/1
(ExAC)
- HGVS:
NC_000014.9:g.50665195_50665196del, NC_000014.8:g.51131913_51131914del, XM_011537057.4:c.419_420del, XM_011537057.3:c.419_420del, XM_011537057.2:c.419_420del, XM_011537057.1:c.419_420del, NM_021818.4:c.518_519del, NM_021818.3:c.518_519del, XM_047431659.1:c.518_519del, XP_011535359.1:p.Gln140fs, NP_068590.1:p.Gln173fs, XP_047287615.1:p.Gln173fs
6.
rs1491018258 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 14:50637663
(GRCh38)
14:51104381
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50637662:AG:
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00009/9
(GnomAD)
-=0.00053/9
(TOMMO)
- HGVS:
7.
rs1490942779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:50664180
(GRCh38)
14:51130898
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50664179:A:G
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000094/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490651201 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:50648002
(GRCh38)
14:51114720
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50648001:A:G
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490541603 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50659279
(GRCh38)
14:51125997
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50659278:T:C
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
10.
rs1490500211 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:50639519
(GRCh38)
14:51106237
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50639518:G:A
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490443062 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 14:50663276
(GRCh38)
14:51129994
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50663275:C:A,NC_000014.9:50663275:C:T
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490421385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 14:50661401
(GRCh38)
14:51128119
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50661400:C:G
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490274083 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50666289
(GRCh38)
14:51133007
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50666288:T:C
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490137754 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 14:50634810
(GRCh38)
14:51101528
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50634809:T:A
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000093/13
(GnomAD)
A=0.000128/34
(TOPMED)
- HGVS:
15.
rs1490092206 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:50663219
(GRCh38)
14:51129937
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50663218:T:C
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1490059138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 14:50667078
(GRCh38)
14:51133796
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50667077:C:A
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
17.
rs1489835481 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:50648694
(GRCh38)
14:51115412
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50648693:C:T
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000036/5
(GnomAD)
- HGVS:
18.
rs1489755028 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:50658022
(GRCh38)
14:51124740
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50658021:G:C
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1489598917 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 14:50639348
(GRCh38)
14:51106066
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50639344:TCTCT:TCT
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.000033/4
(GnomAD)
- HGVS:
20.
rs1489420188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:50648742
(GRCh38)
14:51115460
(GRCh37)
- Canonical SPDI:
- NC_000014.9:50648741:C:T
- Gene:
- SAV1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: