Links from Gene
Items: 1 to 20 of 1727
1.
rs1491078670 has merged into rs34141082 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- 18:10667010
(GRCh38)
18:10667007
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:10667000:AAAAAAAAAAA:AAAAAAAAAAAAA
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
A=0.1417/85
(NorthernSweden)
A=0.2087/774
(TWINSUK)
A=0.2154/215
(GoNL)
A=0.2237/862
(ALSPAC)
A=0.2282/418
(Korea1K)
A=0.2591/1273
(1000Genomes)
A=0.35/14
(GENOME_DK)
- HGVS:
2.
rs1490862006 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 18:10663887
(GRCh38)
18:10663884
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10663886:A:T
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490094837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 18:10664251
(GRCh38)
18:10664248
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10664250:A:G
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
4.
rs1489688866 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:10660334
(GRCh38)
18:10660331
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10660333:C:T
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
5.
rs1489290018 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 18:10660624
(GRCh38)
18:10660621
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10660623:G:T
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
6.
rs1489081075 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:10665970
(GRCh38)
18:10665967
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10665969:A:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
7.
rs1489050843 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:10666932
(GRCh38)
18:10666929
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10666931:T:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489041783 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:10666509
(GRCh38)
18:10666506
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10666508:G:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1487953955 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 18:10665289
(GRCh38)
18:10665286
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10665288:C:A,NC_000018.10:10665288:C:T
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
10.
rs1487341021 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 18:10662891
(GRCh38)
18:10662888
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10662890:TTTT:TTT
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
11.
rs1487205758 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 18:10665025
(GRCh38)
18:10665022
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10665024:C:G
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486995138 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:10664172
(GRCh38)
18:10664169
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10664171:G:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
13.
rs1486906848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:10660350
(GRCh38)
18:10660347
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10660349:G:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
14.
rs1486878355 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 18:10661253
(GRCh38)
18:10661250
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10661252:G:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1486835966 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:10664171
(GRCh38)
18:10664168
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10664170:T:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486249255 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 18:10660233
(GRCh38)
18:10660230
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10660232:T:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1485478047 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 18:10666388
(GRCh38)
18:10666385
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10666387:C:T
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
19.
rs1484888275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 18:10663315
(GRCh38)
18:10663312
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10663314:A:C
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000038/10
(TOPMED)
- HGVS:
20.
rs1484753833 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 18:10662393
(GRCh38)
18:10662390
(GRCh37)
- Canonical SPDI:
- NC_000018.10:10662392:A:
- Gene:
- LOC101927410 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000035/1
(TOMMO)
- HGVS: