Links from Nucleotide
Items: 1 to 20 of 68
1.
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:
2.
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:
4.
rs1434176978 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 17:61362777
(GRCh38)
17:59440139
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61362777:TTTTTT:TTTTTTT
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTT=0.000071/1
(
ALFA)
T=0.000015/4
(TOPMED)
T=0.000021/3
(GnomAD)
- HGVS:
6.
rs1402497228 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:61367694
(GRCh38)
17:59445055
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367693:C:G
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000015/4
(TOPMED)
- HGVS:
7.
rs1391651195 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:61361786
(GRCh38)
17:59439147
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361785:G:A
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
8.
rs1348124699 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:61361772
(GRCh38)
17:59439133
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361771:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,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:
9.
rs1347508810 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 17:61362760
(GRCh38)
17:59440121
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61362759:CC:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
-=0.000071/1
(TOMMO)
- HGVS:
11.
rs1327547322 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 17:61361780
(GRCh38)
17:59439141
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361779:C:G
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
12.
rs1324555914 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:61367616
(GRCh38)
17:59444977
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367615:C:G,NC_000017.11:61367615:C:T
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1284137017 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61367612
(GRCh38)
17:59444973
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367611:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000224/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
14.
rs1281681020 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61367567
(GRCh38)
17:59444928
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367566:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1261005273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 17:61367550
(GRCh38)
17:59444911
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61367549:A:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
17.
rs1259351423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:61362748
(GRCh38)
17:59440109
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61362747:T:C
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
18.
rs1251118815 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:61361708
(GRCh38)
17:59439069
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361707:G:A
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1227027790 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:61361765
(GRCh38)
17:59439126
(GRCh37)
- Canonical SPDI:
- NC_000017.11:61361764:A:G
- Gene:
- BCAS3 (Varview), LOC101927855 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS: