Links from Gene
Items: 1 to 20 of 4139
1.
rs1491509631 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 1:114581638
(GRCh38)
1:115124259
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114581637:CA:
- Gene:
- BCAS2 (Varview), LOC105378914 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000008/2
(GnomAD_exomes)
-=0.000009/1
(ExAC)
- HGVS:
2.
rs1491229707 has merged into rs71580638 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTCTCTCTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCT,CTCTCTCTCTCTCTCTCTCTCTCTCT
[Show Flanks]
- Chromosome:
- 1:114576235
(GRCh38)
1:115118856
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT,NC_000001.11:114576222:CTCTCTCTCTCTCTCTCTCTCTCTCT:CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCTCTCTCTCTCTCTCTCT=0./0
(
ALFA)
CT=0.275/11
(GENOME_DK)
- HGVS:
NC_000001.11:g.114576223CT[6], NC_000001.11:g.114576223CT[7], NC_000001.11:g.114576223CT[8], NC_000001.11:g.114576223CT[9], NC_000001.11:g.114576223CT[10], NC_000001.11:g.114576223CT[11], NC_000001.11:g.114576223CT[12], NC_000001.11:g.114576223CT[14], NC_000001.11:g.114576223CT[15], NC_000001.11:g.114576223CT[16], NC_000001.11:g.114576223CT[17], NC_000001.11:g.114576223CT[18], NC_000001.11:g.114576223CT[19], NC_000001.10:g.115118844CT[6], NC_000001.10:g.115118844CT[7], NC_000001.10:g.115118844CT[8], NC_000001.10:g.115118844CT[9], NC_000001.10:g.115118844CT[10], NC_000001.10:g.115118844CT[11], NC_000001.10:g.115118844CT[12], NC_000001.10:g.115118844CT[14], NC_000001.10:g.115118844CT[15], NC_000001.10:g.115118844CT[16], NC_000001.10:g.115118844CT[17], NC_000001.10:g.115118844CT[18], NC_000001.10:g.115118844CT[19]
3.
rs1491078610 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- GT>-
[Show Flanks]
- Chromosome:
- 1:114581631
(GRCh38)
1:115124252
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114581630:GT:
- Gene:
- BCAS2 (Varview), LOC105378914 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.000004/1
(GnomAD_exomes)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491018219 has merged into rs67319421 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:114568765
(GRCh38)
1:115111386
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114568755:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTT=0.01361/8
(NorthernSweden)
-=0.2/8
(GENOME_DK)
- HGVS:
NC_000001.11:g.114568765_114568779del, NC_000001.11:g.114568766_114568779del, NC_000001.11:g.114568767_114568779del, NC_000001.11:g.114568768_114568779del, NC_000001.11:g.114568769_114568779del, NC_000001.11:g.114568770_114568779del, NC_000001.11:g.114568771_114568779del, NC_000001.11:g.114568772_114568779del, NC_000001.11:g.114568773_114568779del, NC_000001.11:g.114568774_114568779del, NC_000001.11:g.114568775_114568779del, NC_000001.11:g.114568777_114568779del, NC_000001.11:g.114568778_114568779del, NC_000001.11:g.114568779del, NC_000001.11:g.114568779dup, NC_000001.11:g.114568778_114568779dup, NC_000001.11:g.114568777_114568779dup, NC_000001.11:g.114568776_114568779dup, NC_000001.11:g.114568775_114568779dup, NC_000001.11:g.114568774_114568779dup, NC_000001.11:g.114568773_114568779dup, NC_000001.11:g.114568772_114568779dup, NC_000001.11:g.114568770_114568779dup, NC_000001.11:g.114568769_114568779dup, NC_000001.11:g.114568779_114568780insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.115111386_115111400del, NC_000001.10:g.115111387_115111400del, NC_000001.10:g.115111388_115111400del, NC_000001.10:g.115111389_115111400del, NC_000001.10:g.115111390_115111400del, NC_000001.10:g.115111391_115111400del, NC_000001.10:g.115111392_115111400del, NC_000001.10:g.115111393_115111400del, NC_000001.10:g.115111394_115111400del, NC_000001.10:g.115111395_115111400del, NC_000001.10:g.115111396_115111400del, NC_000001.10:g.115111398_115111400del, NC_000001.10:g.115111399_115111400del, NC_000001.10:g.115111400del, NC_000001.10:g.115111400dup, NC_000001.10:g.115111399_115111400dup, NC_000001.10:g.115111398_115111400dup, NC_000001.10:g.115111397_115111400dup, NC_000001.10:g.115111396_115111400dup, NC_000001.10:g.115111395_115111400dup, NC_000001.10:g.115111394_115111400dup, NC_000001.10:g.115111393_115111400dup, NC_000001.10:g.115111391_115111400dup, NC_000001.10:g.115111390_115111400dup, NC_000001.10:g.115111400_115111401insTTTTTTTTTTTTTTTTTTTTTTTTT
5.
rs1490941295 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:114573711
(GRCh38)
1:115116332
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114573710:T:C
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS:
6.
rs1490869734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:114571668
(GRCh38)
1:115114289
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114571667:A:T
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000042/11
(TOPMED)
T=0.000156/1
(1000Genomes)
T=0.000248/4
(TOMMO)
T=0.000546/1
(Korea1K)
T=0.000684/2
(KOREAN)
- HGVS:
7.
rs1490763946 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 1:114574786
(GRCh38)
1:115117407
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114574785:GGG:GG
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
-=0.000014/2
(GnomAD)
- HGVS:
8.
rs1490738030 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:114575501
(GRCh38)
1:115118122
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114575500:A:G
- Gene:
- BCAS2 (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.
rs1490589023 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114567464
(GRCh38)
1:115110085
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114567463:C:T
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_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:
10.
rs1490349476 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATA>-
[Show Flanks]
- Chromosome:
- 1:114569983
(GRCh38)
1:115112604
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114569979:ATAGATA:ATA
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0.000071/1
(
ALFA)
-=0.000004/1
(GnomAD_exomes)
-=0.000004/1
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
11.
rs1490209370 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 1:114567483
(GRCh38)
1:115110104
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114567480:CTCT:CT
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
CTCT=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
12.
rs1489911784 has merged into rs71090790 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:114575194
(GRCh38)
1:115117815
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:114575186:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
T=0.0441/221
(1000Genomes)
- HGVS:
NC_000001.11:g.114575194_114575205del, NC_000001.11:g.114575197_114575205del, NC_000001.11:g.114575198_114575205del, NC_000001.11:g.114575200_114575205del, NC_000001.11:g.114575201_114575205del, NC_000001.11:g.114575202_114575205del, NC_000001.11:g.114575203_114575205del, NC_000001.11:g.114575204_114575205del, NC_000001.11:g.114575205del, NC_000001.11:g.114575205dup, NC_000001.11:g.114575204_114575205dup, NC_000001.11:g.114575203_114575205dup, NC_000001.11:g.114575202_114575205dup, NC_000001.11:g.114575201_114575205dup, NC_000001.11:g.114575198_114575205dup, NC_000001.11:g.114575196_114575205dup, NC_000001.11:g.114575195_114575205dup, NC_000001.10:g.115117815_115117826del, NC_000001.10:g.115117818_115117826del, NC_000001.10:g.115117819_115117826del, NC_000001.10:g.115117821_115117826del, NC_000001.10:g.115117822_115117826del, NC_000001.10:g.115117823_115117826del, NC_000001.10:g.115117824_115117826del, NC_000001.10:g.115117825_115117826del, NC_000001.10:g.115117826del, NC_000001.10:g.115117826dup, NC_000001.10:g.115117825_115117826dup, NC_000001.10:g.115117824_115117826dup, NC_000001.10:g.115117823_115117826dup, NC_000001.10:g.115117822_115117826dup, NC_000001.10:g.115117819_115117826dup, NC_000001.10:g.115117817_115117826dup, NC_000001.10:g.115117816_115117826dup
13.
rs1489509120 has merged into rs68165289 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- T>-,TT
[Show Flanks]
- Chromosome:
- 1:114573350
(GRCh38)
1:115115971
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114573349:TTTTTTTT:TTTTTTT,NC_000001.11:114573349:TTTTTTTT:TTTTTTTTT
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0.01547/264
(
ALFA)
-=0.025/1
(GENOME_DK)
-=0.05/30
(NorthernSweden)
-=0.05762/289
(1000Genomes)
T=0.47996/479
(GoNL)
- HGVS:
14.
rs1489494536 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:114569193
(GRCh38)
1:115111814
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114569192:A:G
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
16.
rs1489231422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 1:114578046
(GRCh38)
1:115120667
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114578045:C:A
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- 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:
17.
rs1489183032 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:114577099
(GRCh38)
1:115119720
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114577098:C:T
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
18.
rs1489001749 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:114567092
(GRCh38)
1:115109713
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114567091:G:A,NC_000001.11:114567091:G:C
- Gene:
- BCAS2 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
19.
rs1488894105 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:114579975
(GRCh38)
1:115122596
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114579974:G:A
- Gene:
- BCAS2 (Varview), LOC105378914 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1488863664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 1:114580571
(GRCh38)
1:115123192
(GRCh37)
- Canonical SPDI:
- NC_000001.11:114580570:T:C
- Gene:
- BCAS2 (Varview), LOC105378914 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000071/1
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS: