Links from Nucleotide
Items: 1 to 20 of 7630
1.
rs1491427215 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- X:155089365
(GRCh38)
X:154317640
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155089364:AT:
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00027/5
(
ALFA)
-=0.000079/9
(GnomAD_exomes)
-=0.000103/2
(ExAC)
-=0.000132/13
(GnomAD)
-=0.000135/2
(TOMMO)
- HGVS:
2.
rs1490976617 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:155101108
(GRCh38)
X:154329383
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155101107:A:G
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
3.
rs1490953384 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155076303
(GRCh38)
X:154304578
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155076302:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0./0
(GnomAD)
- HGVS:
4.
rs1490624413 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- X:155112579
(GRCh38)
X:154340854
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155112578:A:C
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/1
(GnomAD)
- HGVS:
5.
rs1490535849 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155086368
(GRCh38)
X:154314643
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155086367:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000034/9
(TOPMED)
T=0.000058/6
(GnomAD)
- HGVS:
6.
rs1490503140 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:155100074
(GRCh38)
X:154328349
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155100073:G:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000029/3
(GnomAD)
- HGVS:
7.
rs1490464702 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155076655
(GRCh38)
X:154304930
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155076654:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.000034/9
(TOPMED)
- HGVS:
8.
rs1490449325 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:155075829
(GRCh38)
X:154304104
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155075828:T:C
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0.000142/2
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
9.
rs1490205940 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155109195
(GRCh38)
X:154337470
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155109194:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
10.
rs1490177663 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- X:155098526
(GRCh38)
X:154326801
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155098525:A:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
12.
rs1490050265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:155074099
(GRCh38)
X:154302374
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155074098:C:G
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489893755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:155125041
(GRCh38)
X:154353316
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155125040:G:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
- HGVS:
14.
rs1489806398 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:155111734
(GRCh38)
X:154340009
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155111733:G:A
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000012/1
(GnomAD)
- HGVS:
15.
rs1489757291 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:155122536
(GRCh38)
X:154350811
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155122535:A:G
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000142/2
(
ALFA)
G=0.00001/1
(GnomAD)
G=0.000038/10
(TOPMED)
- HGVS:
NC_000023.11:g.155122536A>G, NW_003871103.3:g.2556515A>G, NG_047184.1:g.56117A>G, NM_024332.4:c.*1332A>G, NM_024332.3:c.*1332A>G, NM_001018055.3:c.*1332A>G, NM_001018055.2:c.*1332A>G, NM_001242640.2:c.*1332A>G, NM_001242640.1:c.*1332A>G, NC_000023.10:g.154350811A>G, XM_005274751.5:c.*1332A>G, XM_005274751.4:c.*1332A>G
16.
rs1489755375 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155086951
(GRCh38)
X:154315226
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155086950:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000019/2
(GnomAD)
- HGVS:
17.
rs1489749002 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:155124273
(GRCh38)
X:154352548
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155124272:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
18.
rs1489640290 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:155097580
(GRCh38)
X:154325855
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155097579:A:G
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.00001/1
(GnomAD)
- HGVS:
19.
rs1489512486 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:155115176
(GRCh38)
X:154343451
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155115175:C:T
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000019/2
(GnomAD)
T=0.000026/7
(TOPMED)
- HGVS:
20.
rs1489480502 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- X:155114222
(GRCh38)
X:154342497
(GRCh37)
- Canonical SPDI:
- NC_000023.11:155114221:G:C
- Gene:
- BRCC3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000019/5
(TOPMED)
C=0.000029/3
(GnomAD)
- HGVS: