Links from Nucleotide
Items: 1 to 20 of 4707
1.
rs1491373099 has merged into rs111665955 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 2:218881571
(GRCh38)
2:219746293
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218881568:TTTT:TT
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.000216/30
(GnomAD)
-=0.000425/7
(TOMMO)
-=0.030475/113
(TWINSUK)
-=0.038402/148
(ALSPAC)
-=0.042031/77
(Korea1K)
- HGVS:
2.
rs1491190687 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CG>-
[Show Flanks]
- Chromosome:
- 2:218880483
(GRCh38)
2:219745205
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218880481:GCG:G
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.03659/434
(
ALFA)
-=0.00088/12
(TOMMO)
-=0.04841/310
(1000Genomes)
-=0.16786/6099
(GnomAD)
- HGVS:
4.
rs1490654411 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:218892419
(GRCh38)
2:219757141
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218892418:G:C
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS:
5.
rs1490293305 has merged into rs995033795 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG,GGG,GGGG,GGGGG
[Show Flanks]
- Chromosome:
- 2:218880481
(GRCh38)
2:219745203
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218880480:GG:G,NC_000002.12:218880480:GG:GGG,NC_000002.12:218880480:GG:GGGG,NC_000002.12:218880480:GG:GGGGG,NC_000002.12:218880480:GG:GGGGGG
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000019/5
(TOPMED)
GGG=0.000091/1
(TOMMO)
- HGVS:
NC_000002.12:g.218880482del, NC_000002.12:g.218880482dup, NC_000002.12:g.218880481_218880482dup, NC_000002.12:g.218880482_218880483insGGG, NC_000002.12:g.218880482_218880483insGGGG, NC_000002.11:g.219745204del, NC_000002.11:g.219745204dup, NC_000002.11:g.219745203_219745204dup, NC_000002.11:g.219745204_219745205insGGG, NC_000002.11:g.219745204_219745205insGGGG, NG_012179.1:g.4950del, NG_012179.1:g.4950dup, NG_012179.1:g.4949_4950dup, NG_012179.1:g.4950_4951insGGG, NG_012179.1:g.4950_4951insGGGG
6.
rs1490274443 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:218881018
(GRCh38)
2:219745740
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218881017:C:G
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000005/1
(GnomAD_exomes)
- HGVS:
7.
rs1490205298 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:218890932
(GRCh38)
2:219755654
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218890931:G:A
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
8.
rs1489644970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 2:218889534
(GRCh38)
2:219754256
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218889533:C:G
- Gene:
- WNT10A (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:
9.
rs1489569325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:218892305
(GRCh38)
2:219757027
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218892304:A:C
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.23214/39
(GnomAD)
A=0.5/1
(SGDP_PRJ)
- HGVS:
10.
rs1489441930 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:218883574
(GRCh38)
2:219748296
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218883573:C:T
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
11.
rs1489293427 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 2:218894942
(GRCh38)
2:219759664
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218894941:G:C
- Gene:
- LOC105373882 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
C=0.000036/5
(GnomAD)
C=0.000312/2
(1000Genomes)
- HGVS:
12.
rs1489185469 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:218879417
(GRCh38)
2:219744139
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218879416:G:A
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
13.
rs1489143394 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 2:218877741
(GRCh38)
2:219742463
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218877740:A:C
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000142/2
(
ALFA)
C=0.0001/14
(GnomAD)
C=0.000102/27
(TOPMED)
- HGVS:
14.
rs1489138067 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 2:218893886
(GRCh38)
2:219758608
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218893885:TT:T
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
15.
rs1488996194 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 2:218879662
(GRCh38)
2:219744384
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218879661:GG:G,NC_000002.12:218879661:GG:GGG
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGG=0./0
(
ALFA)
-=0.000014/2
(GnomAD)
- HGVS:
17.
rs1488459196 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 2:218883066
(GRCh38)
2:219747788
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218883065:T:C
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
18.
rs1488327634 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:218892764
(GRCh38)
2:219757486
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218892763:C:T
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
19.
rs1488241275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 2:218877519
(GRCh38)
2:219742241
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218877518:C:T
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
20.
rs1488019548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 2:218890240
(GRCh38)
2:219754962
(GRCh37)
- Canonical SPDI:
- NC_000002.12:218890239:G:A
- Gene:
- WNT10A (Varview)
- Functional Consequence:
- stop_gained,intron_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.0002/1
(
ALFA)
A=0.0002/1
(Estonian)
- HGVS: