SNP Links for Nucleotide (Select 777337482) - SNP

Links from Nucleotide

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Select item 14913820581.

rs1491382058 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:77972004 (GRCh38)
1:78437688 (GRCh37)
Canonical SPDI:: NC_000001.11:77972003:CA:
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.77972004_77972005del, NC_000001.10:g.78437688_78437689del, NG_033243.2:g.12089_12090del

Select item 14912575362.

rs1491257536 has merged into rs372992455 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:77984031 (GRCh38)
1:78449716 (GRCh37)
Canonical SPDI:: NC_000001.11:77984031:GGGG:GGGGG
Gene:: DNAJB4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.77984035dup, NC_000001.10:g.78449719dup, NG_033243.2:g.62dup

Select item 14912037983.

rs1491203798 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:77968663 (GRCh38)
1:78434348 (GRCh37)
Canonical SPDI:: NC_000001.11:77968663:CCCCCC:CCCCCCC
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.77968669dup, NC_000001.10:g.78434353dup, NG_033243.2:g.15430dup

Select item 14911961594.

rs1491196159 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 1:77959514 (GRCh38)
1:78425199 (GRCh37)
Canonical SPDI:: NC_000001.11:77959513:TT:
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.77959514_77959515del, NC_000001.10:g.78425199_78425200del, NG_033243.2:g.24579_24580del

Select item 14911415875.

rs1491141587 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:77966974 (GRCh38)
1:78432658 (GRCh37)
Canonical SPDI:: NC_000001.11:77966973:AT:
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000086/10 (ExAC)
HGVS:: NC_000001.11:g.77966974_77966975del, NC_000001.10:g.78432658_78432659del, NG_033243.2:g.17119_17120del

Select item 14911036676.

rs1491103667 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:77984031 (GRCh38)
1:78449715 (GRCh37)
Canonical SPDI:: NC_000001.11:77984030:TG:
Gene:: DNAJB4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.77984031_77984032del, NC_000001.10:g.78449715_78449716del, NG_033243.2:g.62_63del

Select item 14910152527.

rs1491015252 has merged into rs71590707 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:77981173 (GRCh38)
1:78446857 (GRCh37)
Canonical SPDI:: NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:77981162:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: FUBP1 (Varview), DNAJB4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.77981173_77981182del, NC_000001.11:g.77981174_77981182del, NC_000001.11:g.77981176_77981182del, NC_000001.11:g.77981180_77981182del, NC_000001.11:g.77981181_77981182del, NC_000001.11:g.77981182del, NC_000001.11:g.77981182dup, NC_000001.11:g.77981181_77981182dup, NC_000001.11:g.77981180_77981182dup, NC_000001.10:g.78446857_78446866del, NC_000001.10:g.78446858_78446866del, NC_000001.10:g.78446860_78446866del, NC_000001.10:g.78446864_78446866del, NC_000001.10:g.78446865_78446866del, NC_000001.10:g.78446866del, NC_000001.10:g.78446866dup, NC_000001.10:g.78446865_78446866dup, NC_000001.10:g.78446864_78446866dup, NG_033243.2:g.2922_2931del, NG_033243.2:g.2923_2931del, NG_033243.2:g.2925_2931del, NG_033243.2:g.2929_2931del, NG_033243.2:g.2930_2931del, NG_033243.2:g.2931del, NG_033243.2:g.2931dup, NG_033243.2:g.2930_2931dup, NG_033243.2:g.2929_2931dup

Select item 14909889528.

rs1490988952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:77963334 (GRCh38)
1:78429019 (GRCh37)
Canonical SPDI:: NC_000001.11:77963333:T:C
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.77963334T>C, NC_000001.10:g.78429019T>C, NG_033243.2:g.20760A>G

Select item 14908772189.

rs1490877218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:77971791 (GRCh38)
1:78437475 (GRCh37)
Canonical SPDI:: NC_000001.11:77971790:T:C
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.77971791T>C, NC_000001.10:g.78437475T>C, NG_033243.2:g.12303A>G

Select item 149085234810.

rs1490852348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:77984051 (GRCh38)
1:78449735 (GRCh37)
Canonical SPDI:: NC_000001.11:77984050:G:C
Gene:: DNAJB4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.77984051G>C, NC_000001.10:g.78449735G>C, NG_033243.2:g.43C>G

Select item 149085133011.

rs1490851330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:77972654 (GRCh38)
1:78438338 (GRCh37)
Canonical SPDI:: NC_000001.11:77972653:C:T
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.77972654C>T, NC_000001.10:g.78438338C>T, NG_033243.2:g.11440G>A

Select item 149078339312.

rs1490783393 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:77965670 (GRCh38)
1:78431355 (GRCh37)
Canonical SPDI:: NC_000001.11:77965670:A:AA
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.77965671dup, NC_000001.10:g.78431355dup, NG_033243.2:g.18423dup

Select item 149075262013.

rs1490752620 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:77964559 (GRCh38)
1:78430244 (GRCh37)
Canonical SPDI:: NC_000001.11:77964558:T:C
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.77964559T>C, NC_000001.10:g.78430244T>C, NG_033243.2:g.19535A>G

Select item 149071979914.

rs1490719799 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:77960373 (GRCh38)
1:78426058 (GRCh37)
Canonical SPDI:: NC_000001.11:77960372:A:G
Gene:: FUBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.77960373A>G, NC_000001.10:g.78426058A>G, NG_033243.2:g.23721T>C, NM_003902.5:c.1467T>C, NM_003902.4:c.1467T>C, NM_003902.3:c.1467T>C, NM_001303433.2:c.1530T>C, NM_001303433.1:c.1530T>C, NR_146540.2:n.1535T>C, NR_146540.1:n.1668T>C, NR_146539.2:n.1532T>C, NR_146539.1:n.1665T>C, NR_130152.2:n.1532T>C, NR_130152.1:n.1665T>C, NM_001376055.1:c.1527T>C, NM_001376057.1:c.1464T>C, NR_164755.1:n.1535T>C, NR_164756.1:n.1532T>C, NM_001410804.1:c.1527T>C, NM_001376056.1:c.1464T>C, XR_946790.4:n.1598T>C, XR_946790.3:n.1640T>C, XR_946790.2:n.1602T>C, XR_946790.1:n.1635T>C, XM_017002740.3:c.1530T>C, XM_017002740.2:c.1530T>C, XM_017002740.1:c.1530T>C, XM_017002743.3:c.1464T>C, XM_017002743.2:c.1464T>C, XM_017002743.1:c.1464T>C, XR_001737514.3:n.1598T>C, XR_001737514.2:n.1640T>C, XR_001737514.1:n.1602T>C, XR_001737517.3:n.1598T>C, XR_001737517.2:n.1640T>C, XR_001737517.1:n.1602T>C, XM_011542392.3:c.1527T>C, XM_017002739.2:c.1530T>C, XM_017002739.1:c.1530T>C, XM_047433488.1:c.1530T>C, XM_047433489.1:c.1527T>C, XM_047433492.1:c.1467T>C, XM_047433493.1:c.1464T>C, XM_047433491.1:c.1530T>C, XR_007064841.1:n.1598T>C, XR_007064842.1:n.1595T>C, XR_007064843.1:n.1535T>C, XR_007064844.1:n.1532T>C, XM_047433485.1:c.1467T>C, XM_047433487.1:c.1464T>C, XR_007064839.1:n.1627T>C, XR_007064840.1:n.1624T>C, XR_007064838.1:n.1595T>C

Select item 149058905715.

rs1490589057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:77947048 (GRCh38)
1:78412733 (GRCh37)
Canonical SPDI:: NC_000001.11:77947047:A:T
Gene:: FUBP1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.00005/7 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.77947048A>T, NC_000001.10:g.78412733A>T, NG_033243.2:g.37046T>A, NM_003902.5:c.*1718T>A, NM_001303433.2:c.*1718T>A, NM_001376055.1:c.*1718T>A, NM_001376057.1:c.*1718T>A, XM_017002740.3:c.*466T>A, XM_017002740.2:c.*466T>A, XM_017002740.1:c.*466T>A, XM_017002743.3:c.*466T>A, XM_017002743.2:c.*466T>A, XM_017002743.1:c.*466T>A, XR_001737514.3:n.2562T>A, XR_001737514.2:n.2604T>A, XR_001737514.1:n.2566T>A, XM_047433488.1:c.*1718T>A, XM_047433489.1:c.*1718T>A, XM_047433492.1:c.*1718T>A, XM_047433493.1:c.*1718T>A, XM_047433491.1:c.*494T>A, XR_007064841.1:n.3784T>A, XR_007064842.1:n.3781T>A, XR_007064843.1:n.3721T>A, XR_007064844.1:n.3718T>A

Select item 149058803116.

rs1490588031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:77964016 (GRCh38)
1:78429701 (GRCh37)
Canonical SPDI:: NC_000001.11:77964015:C:T
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.77964016C>T, NC_000001.10:g.78429701C>T, NG_033243.2:g.20078G>A

Select item 149054543617.

rs1490545436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:77949025 (GRCh38)
1:78414710 (GRCh37)
Canonical SPDI:: NC_000001.11:77949024:A:G,NC_000001.11:77949024:A:T
Gene:: FUBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.77949025A>G, NC_000001.11:g.77949025A>T, NC_000001.10:g.78414710A>G, NC_000001.10:g.78414710A>T, NG_033243.2:g.35069T>C, NG_033243.2:g.35069T>A

Select item 149029602618.

rs1490296026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:77979218 (GRCh38)
1:78444902 (GRCh37)
Canonical SPDI:: NC_000001.11:77979217:G:A
Gene:: FUBP1 (Varview), DNAJB4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,5_prime_UTR_variant,genic_upstream_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:: NC_000001.11:g.77979218G>A, NC_000001.10:g.78444902G>A, NG_033243.2:g.4876C>T, NM_001317100.2:c.-424G>A, NM_001317100.1:c.-424G>A, NM_001317101.2:c.-536G>A, NM_001317101.1:c.-536G>A, NM_001317102.2:c.-210G>A, NM_001317102.1:c.-210G>A

Select item 149029356919.

rs1490293569 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:77966023 (GRCh38)
1:78431707 (GRCh37)
Canonical SPDI:: NC_000001.11:77966022:A:G
Gene:: FUBP1 (Varview)
Functional Consequence:: 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:: NC_000001.11:g.77966023A>G, NC_000001.10:g.78431707A>G, NG_033243.2:g.18071T>C

Select item 149026567920.

rs1490265679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:77942757 (GRCh38)
1:78408442 (GRCh37)
Canonical SPDI:: NC_000001.11:77942756:T:C
Gene:: NEXN (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.77942757T>C, NC_000001.10:g.78408442T>C, NG_033243.2:g.41337A>G, NG_016625.1:g.59243T>C, NM_144573.4:c.1956T>C, NM_144573.3:c.1956T>C, NM_001172309.2:c.1764T>C, NM_001172309.1:c.1764T>C, XM_005271324.6:c.1764T>C, XM_005271324.5:c.1764T>C, XM_005271324.4:c.1764T>C, XM_005271324.3:c.1764T>C, XM_005271324.2:c.1764T>C, XM_005271324.1:c.1764T>C, XM_005271322.5:c.1956T>C, XM_005271322.4:c.1956T>C, XM_005271322.3:c.1956T>C, XM_005271322.2:c.1956T>C, XM_005271322.1:c.1956T>C, XM_005271323.5:c.1914T>C, XM_005271323.4:c.1914T>C, XM_005271323.3:c.1914T>C, XM_005271323.2:c.1914T>C, XM_005271323.1:c.1914T>C, XM_005271325.5:c.1734T>C, XM_005271325.4:c.1734T>C, XM_005271325.3:c.1734T>C, XM_005271325.2:c.1734T>C, XM_005271325.1:c.1734T>C, XM_005271327.5:c.1539T>C, XM_005271327.4:c.1539T>C, XM_005271327.3:c.1539T>C, XM_005271327.2:c.1539T>C, XM_005271327.1:c.1539T>C

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