Links from Nucleotide
Items: 1 to 20 of 487
1.
rs1491023604 has merged into rs34247749 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:86913834
(GRCh38)
4:87834987
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86913825:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
-=0.00003/8
(TOPMED)
-=0.053398/198
(TWINSUK)
-=0.056565/218
(ALSPAC)
T=0.475/19
(GENOME_DK)
- HGVS:
NC_000004.12:g.86913834_86913846del, NC_000004.12:g.86913836_86913846del, NC_000004.12:g.86913837_86913846del, NC_000004.12:g.86913839_86913846del, NC_000004.12:g.86913840_86913846del, NC_000004.12:g.86913841_86913846del, NC_000004.12:g.86913842_86913846del, NC_000004.12:g.86913843_86913846del, NC_000004.12:g.86913844_86913846del, NC_000004.12:g.86913845_86913846del, NC_000004.12:g.86913846del, NC_000004.12:g.86913846dup, NC_000004.12:g.86913845_86913846dup, NC_000004.12:g.86913844_86913846dup, NC_000004.12:g.86913843_86913846dup, NC_000004.12:g.86913842_86913846dup, NC_000004.11:g.87834987_87834999del, NC_000004.11:g.87834989_87834999del, NC_000004.11:g.87834990_87834999del, NC_000004.11:g.87834992_87834999del, NC_000004.11:g.87834993_87834999del, NC_000004.11:g.87834994_87834999del, NC_000004.11:g.87834995_87834999del, NC_000004.11:g.87834996_87834999del, NC_000004.11:g.87834997_87834999del, NC_000004.11:g.87834998_87834999del, NC_000004.11:g.87834999del, NC_000004.11:g.87834999dup, NC_000004.11:g.87834998_87834999dup, NC_000004.11:g.87834997_87834999dup, NC_000004.11:g.87834996_87834999dup, NC_000004.11:g.87834995_87834999dup, NG_002355.5:g.1180_1192del, NG_002355.5:g.1182_1192del, NG_002355.5:g.1183_1192del, NG_002355.5:g.1185_1192del, NG_002355.5:g.1186_1192del, NG_002355.5:g.1187_1192del, NG_002355.5:g.1188_1192del, NG_002355.5:g.1189_1192del, NG_002355.5:g.1190_1192del, NG_002355.5:g.1191_1192del, NG_002355.5:g.1192del, NG_002355.5:g.1192dup, NG_002355.5:g.1191_1192dup, NG_002355.5:g.1190_1192dup, NG_002355.5:g.1189_1192dup, NG_002355.5:g.1188_1192dup
2.
rs1490145637 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:86913919
(GRCh38)
4:87835072
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913918:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000014/2
(GnomAD)
- HGVS:
3.
rs1488640317 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:86914608
(GRCh38)
4:87835761
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914607:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
4.
rs1488173319 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:86913632
(GRCh38)
4:87834785
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913631:G:A
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1487302704 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86914510
(GRCh38)
4:87835663
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914509:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0.000084/1
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
6.
rs1487233323 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86914602
(GRCh38)
4:87835755
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914601:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1483799746 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86914312
(GRCh38)
4:87835465
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914311:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
8.
rs1483202548 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86914846
(GRCh38)
4:87835999
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914845:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000014/2
(GnomAD)
- HGVS:
9.
rs1483109130 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:86914975
(GRCh38)
4:87836128
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914974:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000014/2
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
10.
rs1482218779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 4:86913891
(GRCh38)
4:87835044
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913890:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000198/3
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
12.
rs1481599338 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 4:86913148
(GRCh38)
4:87834301
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913147:A:G
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
G=0.000342/1
(KOREAN)
- HGVS:
13.
rs1480649531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:86913140
(GRCh38)
4:87834293
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913139:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1480101927 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 4:86914734
(GRCh38)
4:87835887
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914733:T:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1480073730 has merged into rs35027808 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 4:86914400
(GRCh38)
4:87835553
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:86914391:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTT=0./0
(
ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034/2
(NorthernSweden)
- HGVS:
NC_000004.12:g.86914400_86914418del, NC_000004.12:g.86914403_86914418del, NC_000004.12:g.86914404_86914418del, NC_000004.12:g.86914405_86914418del, NC_000004.12:g.86914406_86914418del, NC_000004.12:g.86914407_86914418del, NC_000004.12:g.86914408_86914418del, NC_000004.12:g.86914409_86914418del, NC_000004.12:g.86914410_86914418del, NC_000004.12:g.86914411_86914418del, NC_000004.12:g.86914412_86914418del, NC_000004.12:g.86914413_86914418del, NC_000004.12:g.86914414_86914418del, NC_000004.12:g.86914415_86914418del, NC_000004.12:g.86914416_86914418del, NC_000004.12:g.86914417_86914418del, NC_000004.12:g.86914418del, NC_000004.12:g.86914418dup, NC_000004.12:g.86914417_86914418dup, NC_000004.12:g.86914416_86914418dup, NC_000004.12:g.86914415_86914418dup, NC_000004.12:g.86914414_86914418dup, NC_000004.12:g.86914413_86914418dup, NC_000004.12:g.86914412_86914418dup, NC_000004.12:g.86914410_86914418dup, NC_000004.12:g.86914406_86914418dup, NC_000004.12:g.86914395_86914418dup, NC_000004.12:g.86914392_86914418dup, NC_000004.11:g.87835553_87835571del, NC_000004.11:g.87835556_87835571del, NC_000004.11:g.87835557_87835571del, NC_000004.11:g.87835558_87835571del, NC_000004.11:g.87835559_87835571del, NC_000004.11:g.87835560_87835571del, NC_000004.11:g.87835561_87835571del, NC_000004.11:g.87835562_87835571del, NC_000004.11:g.87835563_87835571del, NC_000004.11:g.87835564_87835571del, NC_000004.11:g.87835565_87835571del, NC_000004.11:g.87835566_87835571del, NC_000004.11:g.87835567_87835571del, NC_000004.11:g.87835568_87835571del, NC_000004.11:g.87835569_87835571del, NC_000004.11:g.87835570_87835571del, NC_000004.11:g.87835571del, NC_000004.11:g.87835571dup, NC_000004.11:g.87835570_87835571dup, NC_000004.11:g.87835569_87835571dup, NC_000004.11:g.87835568_87835571dup, NC_000004.11:g.87835567_87835571dup, NC_000004.11:g.87835566_87835571dup, NC_000004.11:g.87835565_87835571dup, NC_000004.11:g.87835563_87835571dup, NC_000004.11:g.87835559_87835571dup, NC_000004.11:g.87835548_87835571dup, NC_000004.11:g.87835545_87835571dup, NG_002355.5:g.608_626del, NG_002355.5:g.611_626del, NG_002355.5:g.612_626del, NG_002355.5:g.613_626del, NG_002355.5:g.614_626del, NG_002355.5:g.615_626del, NG_002355.5:g.616_626del, NG_002355.5:g.617_626del, NG_002355.5:g.618_626del, NG_002355.5:g.619_626del, NG_002355.5:g.620_626del, NG_002355.5:g.621_626del, NG_002355.5:g.622_626del, NG_002355.5:g.623_626del, NG_002355.5:g.624_626del, NG_002355.5:g.625_626del, NG_002355.5:g.626del, NG_002355.5:g.626dup, NG_002355.5:g.625_626dup, NG_002355.5:g.624_626dup, NG_002355.5:g.623_626dup, NG_002355.5:g.622_626dup, NG_002355.5:g.621_626dup, NG_002355.5:g.620_626dup, NG_002355.5:g.618_626dup, NG_002355.5:g.614_626dup, NG_002355.5:g.603_626dup, NG_002355.5:g.600_626dup
16.
rs1480042806 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 4:86913548
(GRCh38)
4:87834701
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913547:G:C
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
17.
rs1479673948 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 4:86913637
(GRCh38)
4:87834790
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913636:C:G,NC_000004.12:86913636:C:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
18.
rs1478345947 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 4:86914061
(GRCh38)
4:87835214
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86914060:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
19.
rs1477512579 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 4:86913043
(GRCh38)
4:87834196
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86913042:AAAAA:AAAA
- Validated:
- by frequency,by alfa
- MAF:
AAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
20.
rs1474218984 has merged into rs1243491884 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,TT,TTT,TTTTT
[Show Flanks]
- Chromosome:
- 4:86912919
(GRCh38)
4:87834072
(GRCh37)
- Canonical SPDI:
- NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:86912910:TTTTTTTTTTTT:TTTTTTTTTTTTT
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000004.12:g.86912919_86912922del, NC_000004.12:g.86912921_86912922del, NC_000004.12:g.86912922del, NC_000004.12:g.86912922dup, NC_000004.11:g.87834072_87834075del, NC_000004.11:g.87834074_87834075del, NC_000004.11:g.87834075del, NC_000004.11:g.87834075dup, NG_002355.5:g.2104_2107del, NG_002355.5:g.2106_2107del, NG_002355.5:g.2107del, NG_002355.5:g.2107dup