Links from Gene
Items: 1 to 20 of 1009
1.
rs1490798123 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 11:127230030
(GRCh38)
11:127099925
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127230029:A:C,NC_000011.10:127230029:A:G
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
2.
rs1490455321 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 11:127229205
(GRCh38)
11:127099100
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127229203:GTG:G
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000641/9
(
ALFA)
-=0.000314/44
(GnomAD)
-=0.000529/140
(TOPMED)
- HGVS:
4.
rs1485552132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 11:127232152
(GRCh38)
11:127102047
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127232151:T:G
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
5.
rs1485448204 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G,T
[Show Flanks]
- Chromosome:
- 11:127228521
(GRCh38)
11:127098416
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228520:A:G,NC_000011.10:127228520:A:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
6.
rs1484525203 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:127228133
(GRCh38)
11:127098028
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228132:G:A
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1483917282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:127231067
(GRCh38)
11:127100962
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127231066:C:A
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1483727801 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 11:127231992
(GRCh38)
11:127101887
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127231991:G:A,NC_000011.10:127231991:G:C
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1482283594 has merged into rs1367075845 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 11:127229950
(GRCh38)
11:127099845
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127229949:GGGGGG:GGGGG,NC_000011.10:127229949:GGGGGG:GGGGGGG
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
10.
rs1482040602 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 11:127229903
(GRCh38)
11:127099798
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127229902:C:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1481997719 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:127228809
(GRCh38)
11:127098704
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228808:G:C
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
C=0.000312/2
(1000Genomes)
- HGVS:
12.
rs1481991386 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 11:127230970
(GRCh38)
11:127100865
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127230969:G:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
13.
rs1481212585 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 11:127228504
(GRCh38)
11:127098399
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228503:C:G,NC_000011.10:127228503:C:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00004/1
(TOMMO)
T=0.00068/2
(KOREAN)
- HGVS:
14.
rs1481158626 has merged into rs57092906 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC>-,CTTCCTTCCTTC,CTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,CTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
[Show Flanks]
- Chromosome:
- 11:127229444
(GRCh38)
11:127099339
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC,NC_000011.10:127229428:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC:TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC=0./0
(
ALFA)
- HGVS:
NC_000011.10:g.127229432CTTC[3], NC_000011.10:g.127229432CTTC[6], NC_000011.10:g.127229432CTTC[7], NC_000011.10:g.127229432CTTC[8], NC_000011.10:g.127229432CTTC[9], NC_000011.10:g.127229432CTTC[10], NC_000011.10:g.127229432CTTC[11], NC_000011.10:g.127229432CTTC[12], NC_000011.10:g.127229432CTTC[13], NC_000011.10:g.127229432CTTC[15], NC_000011.10:g.127229432CTTC[16], NC_000011.10:g.127229432CTTC[17], NC_000011.10:g.127229432CTTC[18], NC_000011.10:g.127229432CTTC[19], NC_000011.10:g.127229432CTTC[20], NC_000011.9:g.127099327CTTC[3], NC_000011.9:g.127099327CTTC[6], NC_000011.9:g.127099327CTTC[7], NC_000011.9:g.127099327CTTC[8], NC_000011.9:g.127099327CTTC[9], NC_000011.9:g.127099327CTTC[10], NC_000011.9:g.127099327CTTC[11], NC_000011.9:g.127099327CTTC[12], NC_000011.9:g.127099327CTTC[13], NC_000011.9:g.127099327CTTC[15], NC_000011.9:g.127099327CTTC[16], NC_000011.9:g.127099327CTTC[17], NC_000011.9:g.127099327CTTC[18], NC_000011.9:g.127099327CTTC[19], NC_000011.9:g.127099327CTTC[20]
15.
rs1480698856 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 11:127228886
(GRCh38)
11:127098781
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228885:T:C
- Gene:
- LOC107984379 (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=0.000007/1
(GnomAD)
- HGVS:
16.
rs1479525199 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:127232202
(GRCh38)
11:127102097
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127232201:A:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1478475295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 11:127228933
(GRCh38)
11:127098828
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228932:A:T
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1478198116 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 11:127228014
(GRCh38)
11:127097909
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127228013:G:A
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1477990820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:127229697
(GRCh38)
11:127099592
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127229696:G:C
- Gene:
- LOC107984379 (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=0.000007/1
(GnomAD)
- HGVS:
20.
rs1477941887 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C,G
[Show Flanks]
- Chromosome:
- 11:127230717
(GRCh38)
11:127100612
(GRCh37)
- Canonical SPDI:
- NC_000011.10:127230716:T:C,NC_000011.10:127230716:T:G
- Gene:
- LOC107984379 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS: