SNP Links for Nucleotide (Select 1119203372) - SNP

Links from Nucleotide

Items: 1 to 20 of 11962

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Select item 14914476731.

rs1491447673 has merged into rs56141369 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 4:25248609 (GRCh38)
4:25250231 (GRCh37)
Canonical SPDI:: NC_000004.12:25248598:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000004.12:25248598:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:25248598:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:25248598:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:25248598:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.35/14 (GENOME_DK)
-=0.3746/1876 (1000Genomes)
HGVS:: NC_000004.12:g.25248609_25248611del, NC_000004.12:g.25248610_25248611del, NC_000004.12:g.25248611del, NC_000004.12:g.25248611dup, NC_000004.12:g.25248610_25248611dup, NC_000004.11:g.25250231_25250233del, NC_000004.11:g.25250232_25250233del, NC_000004.11:g.25250233del, NC_000004.11:g.25250233dup, NC_000004.11:g.25250232_25250233dup, NG_052594.1:g.19579_19581del, NG_052594.1:g.19580_19581del, NG_052594.1:g.19581del, NG_052594.1:g.19581dup, NG_052594.1:g.19580_19581dup

Select item 14914365282.

rs1491436528 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 4:25231221 (GRCh38)
4:25232844 (GRCh37)
Canonical SPDI:: NC_000004.12:25231221:C:CCC
Gene:: LOC105374535 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: CC=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.25231222_25231223insCC, NC_000004.11:g.25232844_25232845insCC, NG_052594.1:g.2192_2193insCC

Select item 14912316403.

rs1491231640 has merged into rs60224286 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 4:25260886 (GRCh38)
4:25262508 (GRCh37)
Canonical SPDI:: NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000004.12:25260869:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PI4K2B (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000004.12:g.25260886_25260890del, NC_000004.12:g.25260887_25260890del, NC_000004.12:g.25260888_25260890del, NC_000004.12:g.25260889_25260890del, NC_000004.12:g.25260890del, NC_000004.12:g.25260890dup, NC_000004.12:g.25260885_25260890dup, NC_000004.12:g.25260883_25260890dup, NC_000004.11:g.25262508_25262512del, NC_000004.11:g.25262509_25262512del, NC_000004.11:g.25262510_25262512del, NC_000004.11:g.25262511_25262512del, NC_000004.11:g.25262512del, NC_000004.11:g.25262512dup, NC_000004.11:g.25262507_25262512dup, NC_000004.11:g.25262505_25262512dup, NG_052594.1:g.31856_31860del, NG_052594.1:g.31857_31860del, NG_052594.1:g.31858_31860del, NG_052594.1:g.31859_31860del, NG_052594.1:g.31860del, NG_052594.1:g.31860dup, NG_052594.1:g.31855_31860dup, NG_052594.1:g.31853_31860dup

Select item 14912194074.

rs1491219407 [Homo sapiens]

Variant type:: SNV:
Alleles:: TC>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14909426085.

rs1490942608 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:25243184 (GRCh38)
4:25244806 (GRCh37)
Canonical SPDI:: NC_000004.12:25243183:G:T
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.25243184G>T, NC_000004.11:g.25244806G>T, NG_052594.1:g.14154G>T

Select item 14908725826.

rs1490872582 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:25266149 (GRCh38)
4:25267771 (GRCh37)
Canonical SPDI:: NC_000004.12:25266148:C:G
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.25266149C>G, NC_000004.11:g.25267771C>G, NG_052594.1:g.37119C>G

Select item 14908709247.

rs1490870924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:25244737 (GRCh38)
4:25246359 (GRCh37)
Canonical SPDI:: NC_000004.12:25244736:C:A,NC_000004.12:25244736:C:T
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.001667/1 (NorthernSweden)
HGVS:: NC_000004.12:g.25244737C>A, NC_000004.12:g.25244737C>T, NC_000004.11:g.25246359C>A, NC_000004.11:g.25246359C>T, NG_052594.1:g.15707C>A, NG_052594.1:g.15707C>T

Select item 14908187818.

rs1490818781 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:25257590 (GRCh38)
4:25259212 (GRCh37)
Canonical SPDI:: NC_000004.12:25257589:G:A
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.25257590G>A, NC_000004.11:g.25259212G>A, NG_052594.1:g.28560G>A, XR_007057941.1:n.1753G>A

Select item 14907661559.

rs1490766155 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:25274557 (GRCh38)
4:25276179 (GRCh37)
Canonical SPDI:: NC_000004.12:25274556:T:C
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.25274557T>C, NC_000004.11:g.25276179T>C, NG_052594.1:g.45527T>C

Select item 149072252310.

rs1490722523 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:25232244 (GRCh38)
4:25233866 (GRCh37)
Canonical SPDI:: NC_000004.12:25232243:G:A
Gene:: PI4K2B (Varview), LOC105374535 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.25232244G>A, NC_000004.11:g.25233866G>A, NG_052594.1:g.3214G>A

Select item 149069794211.

rs1490697942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:25233455 (GRCh38)
4:25235077 (GRCh37)
Canonical SPDI:: NC_000004.12:25233454:G:A
Gene:: PI4K2B (Varview), LOC105374535 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.25233455G>A, NC_000004.11:g.25235077G>A, NG_052594.1:g.4425G>A

Select item 149061455612.

rs1490614556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:25239447 (GRCh38)
4:25241069 (GRCh37)
Canonical SPDI:: NC_000004.12:25239446:G:A
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.25239447G>A, NC_000004.11:g.25241069G>A, NG_052594.1:g.10417G>A

Select item 149041924913.

rs1490419249 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:25273475 (GRCh38)
4:25275097 (GRCh37)
Canonical SPDI:: NC_000004.12:25273474:C:T
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.25273475C>T, NC_000004.11:g.25275097C>T, NG_052594.1:g.44445C>T

Select item 149038119814.

rs1490381198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:25266709 (GRCh38)
4:25268331 (GRCh37)
Canonical SPDI:: NC_000004.12:25266708:T:C
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.25266709T>C, NC_000004.11:g.25268331T>C, NG_052594.1:g.37679T>C

Select item 149030468115.

rs1490304681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:25260360 (GRCh38)
4:25261982 (GRCh37)
Canonical SPDI:: NC_000004.12:25260359:G:T
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00057/9 (TOMMO)
T=0.04073/119 (KOREAN)
HGVS:: NC_000004.12:g.25260360G>T, NC_000004.11:g.25261982G>T, NG_052594.1:g.31330G>T

Select item 149027958316.

rs1490279583 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:25263713 (GRCh38)
4:25265335 (GRCh37)
Canonical SPDI:: NC_000004.12:25263712:G:A
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.25263713G>A, NC_000004.11:g.25265335G>A, NG_052594.1:g.34683G>A

Select item 149027881017.

rs1490278810 [Homo sapiens]

Variant type:: DEL
Alleles:: ATTTTTT>- [Show Flanks]
Chromosome:: 4:25260869 (GRCh38)
4:25262491 (GRCh37)
Canonical SPDI:: NC_000004.12:25260868:ATTTTTT:
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000004.12:g.25260869_25260875del, NC_000004.11:g.25262491_25262497del, NG_052594.1:g.31839_31845del

Select item 149024758718.

rs1490247587 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:25233875 (GRCh38)
4:25235497 (GRCh37)
Canonical SPDI:: NC_000004.12:25233874:A:C,NC_000004.12:25233874:A:G
Gene:: PI4K2B (Varview), LOC105374535 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.25233875A>C, NC_000004.12:g.25233875A>G, NC_000004.11:g.25235497A>C, NC_000004.11:g.25235497A>G, NG_052594.1:g.4845A>C, NG_052594.1:g.4845A>G

Select item 149012294619.

rs1490122946 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 4:25243821 (GRCh38)
4:25245443 (GRCh37)
Canonical SPDI:: NC_000004.12:25243820:G:A,NC_000004.12:25243820:G:C
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000061/1 (ALFA)
C=0.00003/8 (TOPMED)
C=0.00005/7 (GnomAD)
A=0.000071/1 (TOMMO)
C=0.000223/1 (Estonian)
HGVS:: NC_000004.12:g.25243821G>A, NC_000004.12:g.25243821G>C, NC_000004.11:g.25245443G>A, NC_000004.11:g.25245443G>C, NG_052594.1:g.14791G>A, NG_052594.1:g.14791G>C

Select item 149000109220.

rs1490001092 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:25258882 (GRCh38)
4:25260504 (GRCh37)
Canonical SPDI:: NC_000004.12:25258881:A:G
Gene:: PI4K2B (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.25258882A>G, NC_000004.11:g.25260504A>G, NG_052594.1:g.29852A>G, XR_007057941.1:n.3045A>G

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