Links from Nucleotide
Items: 1 to 20 of 2313
1.
rs1491458795 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TA>-
[Show Flanks]
- Chromosome:
- X:30216886
(GRCh38)
X:30235003
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30216885:TA:
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.00008/1
(
ALFA)
-=0.00018/15
(GnomAD)
- HGVS:
2.
rs1491231617 has merged into rs59753945 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- X:30216900
(GRCh38)
X:30235017
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
- HGVS:
NC_000023.11:g.30216900_30216904del, NC_000023.11:g.30216901_30216904del, NC_000023.11:g.30216902_30216904del, NC_000023.11:g.30216903_30216904del, NC_000023.11:g.30216904del, NC_000023.11:g.30216904dup, NC_000023.11:g.30216903_30216904dup, NC_000023.11:g.30216901_30216904dup, NC_000023.11:g.30216896_30216904dup, NC_000023.11:g.30216895_30216904dup, NC_000023.11:g.30216894_30216904dup, NC_000023.10:g.30235017_30235021del, NC_000023.10:g.30235018_30235021del, NC_000023.10:g.30235019_30235021del, NC_000023.10:g.30235020_30235021del, NC_000023.10:g.30235021del, NC_000023.10:g.30235021dup, NC_000023.10:g.30235020_30235021dup, NC_000023.10:g.30235018_30235021dup, NC_000023.10:g.30235013_30235021dup, NC_000023.10:g.30235012_30235021dup, NC_000023.10:g.30235011_30235021dup, NG_013246.1:g.6343_6347del, NG_013246.1:g.6344_6347del, NG_013246.1:g.6345_6347del, NG_013246.1:g.6346_6347del, NG_013246.1:g.6347del, NG_013246.1:g.6347dup, NG_013246.1:g.6346_6347dup, NG_013246.1:g.6344_6347dup, NG_013246.1:g.6339_6347dup, NG_013246.1:g.6338_6347dup, NG_013246.1:g.6337_6347dup
3.
rs1491085295 has merged into rs368622211 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,T,TTT,TTTT
[Show Flanks]
- Chromosome:
- X:30219717
(GRCh38)
X:30237834
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTTTTT
- Gene:
- MAGEB2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
-=0.18215/606
(1000Genomes)
- HGVS:
NC_000023.11:g.30219717_30219718del, NC_000023.11:g.30219718del, NC_000023.11:g.30219718dup, NC_000023.11:g.30219717_30219718dup, NC_000023.10:g.30237834_30237835del, NC_000023.10:g.30237835del, NC_000023.10:g.30237835dup, NC_000023.10:g.30237834_30237835dup, NG_013246.1:g.9160_9161del, NG_013246.1:g.9161del, NG_013246.1:g.9161dup, NG_013246.1:g.9160_9161dup, NM_002364.5:c.*177_*178del, NM_002364.5:c.*178del, NM_002364.5:c.*178dup, NM_002364.5:c.*177_*178dup, NM_002364.4:c.*177_*178del, NM_002364.4:c.*178del, NM_002364.4:c.*178dup, NM_002364.4:c.*177_*178dup, XM_011545512.2:c.*177_*178del, XM_011545512.2:c.*178del, XM_011545512.2:c.*178dup, XM_011545512.2:c.*177_*178dup, XM_011545512.1:c.*177_*178del, XM_011545512.1:c.*178del, XM_011545512.1:c.*178dup, XM_011545512.1:c.*177_*178dup
4.
rs1491084024 has merged into rs60797907 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- X:30211755
(GRCh38)
X:30229872
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30211745:AAAAAAAAAAA:AAAAAAAAA,NC_000023.11:30211745:AAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:30211745:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:30211745:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:30211745:AAAAAAAAAAA:AAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.2661/837
(1000Genomes)
- HGVS:
NC_000023.11:g.30211755_30211756del, NC_000023.11:g.30211756del, NC_000023.11:g.30211756dup, NC_000023.11:g.30211755_30211756dup, NC_000023.11:g.30211754_30211756dup, NC_000023.10:g.30229872_30229873del, NC_000023.10:g.30229873del, NC_000023.10:g.30229873dup, NC_000023.10:g.30229872_30229873dup, NC_000023.10:g.30229871_30229873dup, NG_013246.1:g.1198_1199del, NG_013246.1:g.1199del, NG_013246.1:g.1199dup, NG_013246.1:g.1198_1199dup, NG_013246.1:g.1197_1199dup
5.
rs1491047091 has merged into rs35475517 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AA>-,A,AAA,AAAA
[Show Flanks]
- Chromosome:
- X:30211629
(GRCh38)
X:30229746
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30211618:AAAAAAAAAAAA:AAAAAAAAAA,NC_000023.11:30211618:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000023.11:30211618:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:30211618:AAAAAAAAAAAA:AAAAAAAAAAAAAA
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0.0006/5
(
ALFA)
-=0.2674/843
(1000Genomes)
- HGVS:
NC_000023.11:g.30211629_30211630del, NC_000023.11:g.30211630del, NC_000023.11:g.30211630dup, NC_000023.11:g.30211629_30211630dup, NC_000023.10:g.30229746_30229747del, NC_000023.10:g.30229747del, NC_000023.10:g.30229747dup, NC_000023.10:g.30229746_30229747dup, NG_013246.1:g.1072_1073del, NG_013246.1:g.1073del, NG_013246.1:g.1073dup, NG_013246.1:g.1072_1073dup
6.
rs1490739865 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- X:30214463
(GRCh38)
X:30232580
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30214462:G:T
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
T=0.00001/1
(GnomAD)
- HGVS:
7.
rs1490696065 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:30211350
(GRCh38)
X:30229467
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30211349:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.00031/5
(
ALFA)
T=0.00004/4
(GnomAD)
- HGVS:
8.
rs1490485233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30217213
(GRCh38)
X:30235330
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30217212:G:A
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
9.
rs1490371187 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- X:30219478
(GRCh38)
X:30237595
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30219477:C:A,NC_000023.11:30219477:C:T
- Gene:
- MAGEB2 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00001/1
(GnomAD)
- HGVS:
NC_000023.11:g.30219478C>A, NC_000023.11:g.30219478C>T, NC_000023.10:g.30237595C>A, NC_000023.10:g.30237595C>T, NG_013246.1:g.8921C>A, NG_013246.1:g.8921C>T, NM_002364.5:c.898C>A, NM_002364.5:c.898C>T, NM_002364.4:c.898C>A, NM_002364.4:c.898C>T, XM_011545512.2:c.898C>A, XM_011545512.2:c.898C>T, XM_011545512.1:c.898C>A, XM_011545512.1:c.898C>T, NP_002355.2:p.Pro300Thr, NP_002355.2:p.Pro300Ser, XP_011543814.1:p.Pro300Thr, XP_011543814.1:p.Pro300Ser
11.
rs1489365584 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- X:30219980
(GRCh38)
X:30238097
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30219979:G:A,NC_000023.11:30219979:G:T
- Gene:
- MAGEB2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000023.11:g.30219980G>A, NC_000023.11:g.30219980G>T, NC_000023.10:g.30238097G>A, NC_000023.10:g.30238097G>T, NG_013246.1:g.9423G>A, NG_013246.1:g.9423G>T, NM_002364.5:c.*440G>A, NM_002364.5:c.*440G>T, NM_002364.4:c.*440G>A, NM_002364.4:c.*440G>T, XM_011545512.2:c.*440G>A, XM_011545512.2:c.*440G>T, XM_011545512.1:c.*440G>A, XM_011545512.1:c.*440G>T
12.
rs1489333595 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- X:30216813
(GRCh38)
X:30234930
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30216812:A:G
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00001/1
(GnomAD)
- HGVS:
13.
rs1488813641 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30215279
(GRCh38)
X:30233396
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30215278:G:A
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000026/7
(TOPMED)
- HGVS:
14.
rs1486946465 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:30212926
(GRCh38)
X:30231043
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30212925:C:T
- Gene:
- LOC107985632 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00003/8
(TOPMED)
T=0.000038/4
(GnomAD)
- HGVS:
15.
rs1486853357 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30213913
(GRCh38)
X:30232030
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30213912:G:A
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
- HGVS:
16.
rs1486789813 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AA>-
[Show Flanks]
- Chromosome:
- X:30220623
(GRCh38)
X:30238740
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30220622:AA:
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000038/10
(TOPMED)
-=0.000064/4
(GnomAD)
- HGVS:
17.
rs1486529061 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- X:30217392
(GRCh38)
X:30235509
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30217391:G:A
- Gene:
- MAGEB2 (Varview), LOC107985632 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.00001/1
(GnomAD)
- HGVS:
18.
rs1485817666 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:30220969
(GRCh38)
X:30239086
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30220968:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000029/3
(GnomAD)
T=0.000057/15
(TOPMED)
- HGVS:
19.
rs1485804368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- X:30212460
(GRCh38)
X:30230577
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30212459:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000684/2
(KOREAN)
- HGVS:
20.
rs1485475532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTA>-
[Show Flanks]
- Chromosome:
- X:30211882
(GRCh38)
X:30229999
(GRCh37)
- Canonical SPDI:
- NC_000023.11:30211880:ATTTA:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.00001/1
(GnomAD)
- HGVS: