Links from Gene
Items: 1 to 20 of 1845
1.
rs1491450846 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:179681944
(GRCh38)
5:179108945
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179681943:TA:
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000169/2
(
ALFA)
-=0.000156/1
(1000Genomes)
-=0.000239/27
(GnomAD)
- HGVS:
2.
rs1491401024 has merged into rs58981244 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:179681957
(GRCh38)
5:179108958
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179681944:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.1292/498
(ALSPAC)
-=0.4317/2162
(1000Genomes)
- HGVS:
NC_000005.10:g.179681957_179681964del, NC_000005.10:g.179681958_179681964del, NC_000005.10:g.179681959_179681964del, NC_000005.10:g.179681960_179681964del, NC_000005.10:g.179681961_179681964del, NC_000005.10:g.179681962_179681964del, NC_000005.10:g.179681963_179681964del, NC_000005.10:g.179681964del, NC_000005.10:g.179681964dup, NC_000005.10:g.179681963_179681964dup, NC_000005.10:g.179681962_179681964dup, NC_000005.10:g.179681960_179681964dup, NC_000005.10:g.179681958_179681964dup, NC_000005.9:g.179108958_179108965del, NC_000005.9:g.179108959_179108965del, NC_000005.9:g.179108960_179108965del, NC_000005.9:g.179108961_179108965del, NC_000005.9:g.179108962_179108965del, NC_000005.9:g.179108963_179108965del, NC_000005.9:g.179108964_179108965del, NC_000005.9:g.179108965del, NC_000005.9:g.179108965dup, NC_000005.9:g.179108964_179108965dup, NC_000005.9:g.179108963_179108965dup, NC_000005.9:g.179108961_179108965dup, NC_000005.9:g.179108959_179108965dup, NW_016107298.1:g.447649_447656del, NW_016107298.1:g.447650_447656del, NW_016107298.1:g.447651_447656del, NW_016107298.1:g.447652_447656del, NW_016107298.1:g.447653_447656del, NW_016107298.1:g.447654_447656del, NW_016107298.1:g.447655_447656del, NW_016107298.1:g.447656del, NW_016107298.1:g.447656dup, NW_016107298.1:g.447655_447656dup, NW_016107298.1:g.447654_447656dup, NW_016107298.1:g.447652_447656dup, NW_016107298.1:g.447650_447656dup
3.
rs1491187176 has merged into rs34211501 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 5:179677980
(GRCh38)
5:179104981
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:179677968:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- CANX (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000005.10:g.179677980_179677993del, NC_000005.10:g.179677981_179677993del, NC_000005.10:g.179677982_179677993del, NC_000005.10:g.179677984_179677993del, NC_000005.10:g.179677985_179677993del, NC_000005.10:g.179677986_179677993del, NC_000005.10:g.179677987_179677993del, NC_000005.10:g.179677988_179677993del, NC_000005.10:g.179677989_179677993del, NC_000005.10:g.179677990_179677993del, NC_000005.10:g.179677991_179677993del, NC_000005.10:g.179677992_179677993del, NC_000005.10:g.179677993del, NC_000005.10:g.179677993dup, NC_000005.10:g.179677992_179677993dup, NC_000005.10:g.179677991_179677993dup, NC_000005.10:g.179677990_179677993dup, NC_000005.10:g.179677989_179677993dup, NC_000005.10:g.179677988_179677993dup, NC_000005.10:g.179677987_179677993dup, NC_000005.10:g.179677986_179677993dup, NC_000005.10:g.179677985_179677993dup, NC_000005.10:g.179677984_179677993dup, NC_000005.10:g.179677983_179677993dup, NC_000005.10:g.179677982_179677993dup, NC_000005.10:g.179677981_179677993dup, NC_000005.10:g.179677980_179677993dup, NC_000005.10:g.179677979_179677993dup, NC_000005.10:g.179677978_179677993dup, NC_000005.10:g.179677977_179677993dup, NC_000005.10:g.179677976_179677993dup, NC_000005.10:g.179677975_179677993dup, NC_000005.10:g.179677974_179677993dup, NC_000005.10:g.179677973_179677993dup, NC_000005.10:g.179677972_179677993dup, NC_000005.10:g.179677971_179677993dup, NC_000005.10:g.179677970_179677993dup, NC_000005.9:g.179104981_179104994del, NC_000005.9:g.179104982_179104994del, NC_000005.9:g.179104983_179104994del, NC_000005.9:g.179104985_179104994del, NC_000005.9:g.179104986_179104994del, NC_000005.9:g.179104987_179104994del, NC_000005.9:g.179104988_179104994del, NC_000005.9:g.179104989_179104994del, NC_000005.9:g.179104990_179104994del, NC_000005.9:g.179104991_179104994del, NC_000005.9:g.179104992_179104994del, NC_000005.9:g.179104993_179104994del, NC_000005.9:g.179104994del, NC_000005.9:g.179104994dup, NC_000005.9:g.179104993_179104994dup, NC_000005.9:g.179104992_179104994dup, NC_000005.9:g.179104991_179104994dup, NC_000005.9:g.179104990_179104994dup, NC_000005.9:g.179104989_179104994dup, NC_000005.9:g.179104988_179104994dup, NC_000005.9:g.179104987_179104994dup, NC_000005.9:g.179104986_179104994dup, NC_000005.9:g.179104985_179104994dup, NC_000005.9:g.179104984_179104994dup, NC_000005.9:g.179104983_179104994dup, NC_000005.9:g.179104982_179104994dup, NC_000005.9:g.179104981_179104994dup, NC_000005.9:g.179104980_179104994dup, NC_000005.9:g.179104979_179104994dup, NC_000005.9:g.179104978_179104994dup, NC_000005.9:g.179104977_179104994dup, NC_000005.9:g.179104976_179104994dup, NC_000005.9:g.179104975_179104994dup, NC_000005.9:g.179104974_179104994dup, NC_000005.9:g.179104973_179104994dup, NC_000005.9:g.179104972_179104994dup, NC_000005.9:g.179104971_179104994dup, NW_016107298.1:g.443671_443684del, NW_016107298.1:g.443672_443684del, NW_016107298.1:g.443673_443684del, NW_016107298.1:g.443675_443684del, NW_016107298.1:g.443676_443684del, NW_016107298.1:g.443677_443684del, NW_016107298.1:g.443678_443684del, NW_016107298.1:g.443679_443684del, NW_016107298.1:g.443680_443684del, NW_016107298.1:g.443681_443684del, NW_016107298.1:g.443682_443684del, NW_016107298.1:g.443683_443684del, NW_016107298.1:g.443684del, NW_016107298.1:g.443684dup, NW_016107298.1:g.443683_443684dup, NW_016107298.1:g.443682_443684dup, NW_016107298.1:g.443681_443684dup, NW_016107298.1:g.443680_443684dup, NW_016107298.1:g.443679_443684dup, NW_016107298.1:g.443678_443684dup, NW_016107298.1:g.443677_443684dup, NW_016107298.1:g.443676_443684dup, NW_016107298.1:g.443675_443684dup, NW_016107298.1:g.443674_443684dup, NW_016107298.1:g.443673_443684dup, NW_016107298.1:g.443672_443684dup, NW_016107298.1:g.443671_443684dup, NW_016107298.1:g.443670_443684dup, NW_016107298.1:g.443669_443684dup, NW_016107298.1:g.443668_443684dup, NW_016107298.1:g.443667_443684dup, NW_016107298.1:g.443666_443684dup, NW_016107298.1:g.443665_443684dup, NW_016107298.1:g.443664_443684dup, NW_016107298.1:g.443663_443684dup, NW_016107298.1:g.443662_443684dup, NW_016107298.1:g.443661_443684dup
4.
rs1491111557 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- 5:179677968
(GRCh38)
5:179104969
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179677967:TA:
- Gene:
- CANX (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00548/65
(
ALFA)
-=0.00599/313
(GnomAD)
- HGVS:
5.
rs1491070208 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 5:179679985
(GRCh38)
5:179106986
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179679983:TGT:T
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.00098/16
(
ALFA)
-=0.0052/86
(TOMMO)
- HGVS:
7.
rs1489578765 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:179679293
(GRCh38)
5:179106294
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179679292:C:T
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.00001/1
(GnomAD_exomes)
- HGVS:
8.
rs1489457334 has merged into rs138379680 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT
[Show Flanks]
- Chromosome:
- 5:179677967
(GRCh38)
5:179104968
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179677965:TTT:T,NC_000005.10:179677965:TTT:TT,NC_000005.10:179677965:TTT:TTTT
- Gene:
- CANX (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.15/6
(GENOME_DK)
- HGVS:
9.
rs1489244673 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:179683725
(GRCh38)
5:179110726
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179683724:G:C
- Gene:
- CANX (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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.
rs1488567883 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:179681615
(GRCh38)
5:179108616
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179681614:T:C
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,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)
- HGVS:
11.
rs1488148451 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:179680069
(GRCh38)
5:179107070
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179680068:C:T
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
12.
rs1488077605 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 5:179679348
(GRCh38)
5:179106350
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179679348:T:TT
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488069354 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 5:179677579
(GRCh38)
5:179104580
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179677578:A:C
- Gene:
- CANX (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)
C=0.000546/1
(Korea1K)
- HGVS:
14.
rs1487956029 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 5:179677590
(GRCh38)
5:179104591
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179677589:C:T
- Gene:
- CANX (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
17.
rs1487042302 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 5:179678552
(GRCh38)
5:179105553
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179678551:G:A
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1485830235 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 5:179679504
(GRCh38)
5:179106505
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179679503:G:C
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,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:
20.
rs1485589935 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 5:179682085
(GRCh38)
5:179109086
(GRCh37)
- Canonical SPDI:
- NC_000005.10:179682084:T:C
- Gene:
- CANX (Varview), CBY3 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
- HGVS: