Links from Nucleotide
Items: 1 to 20 of 82
1.
rs1491547825 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- X:123961300
(GRCh38)
X:123095151
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961300::T
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000011/3
(TOPMED)
T=0.00002/1
(GnomAD)
- HGVS:
2.
rs1491451651 has merged into rs760265846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC
[Show Flanks]
- Chromosome:
- X:123961309
(GRCh38)
X:123095159
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCCC=0./0
(
ALFA)
-=0.37881/1430
(1000Genomes)
- HGVS:
NC_000023.11:g.123961309_123961311del, NC_000023.11:g.123961310_123961311del, NC_000023.11:g.123961311del, NC_000023.11:g.123961311dup, NC_000023.11:g.123961310_123961311dup, NC_000023.11:g.123961309_123961311dup, NC_000023.10:g.123095159_123095161del, NC_000023.10:g.123095160_123095161del, NC_000023.10:g.123095161del, NC_000023.10:g.123095161dup, NC_000023.10:g.123095160_123095161dup, NC_000023.10:g.123095159_123095161dup, NG_033796.2:g.5750_5752del, NG_033796.2:g.5751_5752del, NG_033796.2:g.5752del, NG_033796.2:g.5752dup, NG_033796.2:g.5751_5752dup, NG_033796.2:g.5750_5752dup, NR_130770.1:n.40_42del, NR_130770.1:n.41_42del, NR_130770.1:n.42del, NR_130770.1:n.42dup, NR_130770.1:n.41_42dup, NR_130770.1:n.40_42dup
4.
rs1491291627 has merged into rs760265846 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CCC>-,C,CC,CCCC,CCCCC,CCCCCC
[Show Flanks]
- Chromosome:
- X:123961309
(GRCh38)
X:123095159
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000023.11:123961299:CCCCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCCCC=0./0
(
ALFA)
-=0.37881/1430
(1000Genomes)
- HGVS:
NC_000023.11:g.123961309_123961311del, NC_000023.11:g.123961310_123961311del, NC_000023.11:g.123961311del, NC_000023.11:g.123961311dup, NC_000023.11:g.123961310_123961311dup, NC_000023.11:g.123961309_123961311dup, NC_000023.10:g.123095159_123095161del, NC_000023.10:g.123095160_123095161del, NC_000023.10:g.123095161del, NC_000023.10:g.123095161dup, NC_000023.10:g.123095160_123095161dup, NC_000023.10:g.123095159_123095161dup, NG_033796.2:g.5750_5752del, NG_033796.2:g.5751_5752del, NG_033796.2:g.5752del, NG_033796.2:g.5752dup, NG_033796.2:g.5751_5752dup, NG_033796.2:g.5750_5752dup, NR_130770.1:n.40_42del, NR_130770.1:n.41_42del, NR_130770.1:n.42del, NR_130770.1:n.42dup, NR_130770.1:n.41_42dup, NR_130770.1:n.40_42dup
5.
rs1471238865 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- X:123961309
(GRCh38)
X:123095160
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961309::G
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,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:
6.
rs1468916822 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:123959296
(GRCh38)
X:123093146
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123959295:T:C
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000019/2
(GnomAD)
- HGVS:
7.
rs1463831040 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:123959330
(GRCh38)
X:123093180
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123959329:G:A
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/2
(GnomAD)
A=0.000026/7
(TOPMED)
- HGVS:
8.
rs1456552811 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- X:123961242
(GRCh38)
X:123095092
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961241:C:G
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
G=0.00002/2
(GnomAD)
- HGVS:
9.
rs1446609066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:123959389
(GRCh38)
X:123093239
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123959388:G:A
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_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=0.00001/1
(GnomAD)
- HGVS:
11.
rs1434787717 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- X:123961242
(GRCh38)
X:123095092
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961241:C:
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.00002/2
(GnomAD)
-=0.000053/14
(TOPMED)
- HGVS:
12.
rs1432766559 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- X:123961236
(GRCh38)
X:123095086
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961235:T:C
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
T=0./0
(SGDP_PRJ)
- HGVS:
14.
rs1403502877 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CTGCAATA
[Show Flanks]
- Chromosome:
- X:123959288
(GRCh38)
X:123093139
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123959288:ACTGCAATA:ACTGCAATACTGCAATA
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ACTGCAATACTGCAATA=0./0
(
ALFA)
ACTGCAAT=0.000058/6
(GnomAD)
ACTGCAAT=0.000083/22
(TOPMED)
- HGVS:
15.
rs1401502240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:123961198
(GRCh38)
X:123095048
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961197:C:T
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00001/1
(GnomAD)
T=0.00021/1
(1000Genomes)
- HGVS:
17.
rs1399284385 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,T
[Show Flanks]
- Chromosome:
- X:123961299
(GRCh38)
X:123095149
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961298:A:C,NC_000023.11:123961298:A:T
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
C=0.03512/101
(KOREAN)
- HGVS:
18.
rs1398584595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:123961322
(GRCh38)
X:123095172
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961321:C:T
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000071/1
(
ALFA)
T=0.00001/1
(GnomAD)
- HGVS:
NC_000023.11:g.123961322C>T, NC_000023.10:g.123095172C>T, NG_033796.2:g.5763C>T, NM_001282418.2:c.-282C>T, NM_001282418.1:c.-282C>T, NM_001375370.1:c.-276C>T, NM_001375369.1:c.-211C>T, NM_001375376.1:c.-276C>T, NM_001375375.1:c.-211C>T, XM_006724727.2:c.-407C>T, XM_006724727.1:c.-407C>T, XM_024452328.2:c.-407C>T, XM_024452328.1:c.-407C>T, XM_047441777.1:c.-657C>T, XM_047441776.1:c.-592C>T, XM_047441782.1:c.-657C>T, XM_047441781.1:c.-592C>T, XM_047441775.1:c.-342C>T, XM_047441780.1:c.-342C>T, NR_130770.1:n.20G>A
19.
rs1378589423 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:123959367
(GRCh38)
X:123093217
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123959366:C:T
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
20.
rs1375077119 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- X:123961209
(GRCh38)
X:123095059
(GRCh37)
- Canonical SPDI:
- NC_000023.11:123961208:T:G
- Gene:
- STAG2 (Varview), STAG2-AS1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS: