Links from Gene
Items: 1 to 20 of 1786
1.
rs1490958307 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:61366984
(GRCh38)
17:59444345
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61366983:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/4
(GnomAD)
T=0.000042/11
(TOPMED)
- HGVS:
2.
rs1490900854 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:61365941
(GRCh38)
17:59443302
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61365940:A:G
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
3.
rs1490308989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:61367651
(GRCh38)
17:59445012
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367650:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
4.
rs1490138422 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:61367409
(GRCh38)
17:59444770
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367408:A:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
5.
rs1490082086 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61366374
(GRCh38)
17:59443735
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61366373:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- 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:
6.
rs1489404762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61363724
(GRCh38)
17:59441085
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61363723:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (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:
7.
rs1488870110 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:61364179
(GRCh38)
17:59441540
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61364178:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000094/1
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
8.
rs1488731156 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:61364911
(GRCh38)
17:59442272
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61364910:G:A
- Gene:
- BCAS3 (Varview), LOC101927855 (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:
9.
rs1488543993 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:61364086
(GRCh38)
17:59441447
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61364085:G:A
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000011/3
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
10.
rs1488237828 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61369379
(GRCh38)
17:59446740
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61369378:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
11.
rs1487337507 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:61361297
(GRCh38)
17:59438658
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361296:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1486878665 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCACAGGT>-
[Show Flanks]
- Chromosome:
- 17:61363168
(GRCh38)
17:59440529
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61363164:GGTCCACAGGT:GGT
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGT=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000026/7
(TOPMED)
- HGVS:
14.
rs1486143214 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- T>-
[Show Flanks]
- Chromosome:
- 17:61362752
(GRCh38)
17:59440113
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61362751:T:
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
- HGVS:
15.
rs1485452528 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:61363877
(GRCh38)
17:59441238
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61363876:A:G
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1485245487 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:61361942
(GRCh38)
17:59439303
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361941:A:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000021/3
(GnomAD)
- HGVS:
17.
rs1485130241 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61369582
(GRCh38)
17:59446943
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61369581:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
18.
rs1483950819 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 17:61366665
(GRCh38)
17:59444026
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61366664:G:A,NC_000017.11:61366664:G:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: