SNP Links for Nucleotide (Select 342187242) - SNP

Links from Nucleotide

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Select item 14915335791.

rs1491533579 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:10423158 (GRCh38)
19:10533835 (GRCh37)
Canonical SPDI:: NC_000019.10:10423158::C
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00008/1 (ALFA)
C=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.10423158_10423159insC, NC_000019.9:g.10533834_10533835insC, NG_029594.1:g.11386_11387insC

Select item 14915289532.

rs1491528953 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA [Show Flanks]
Chromosome:: 19:10435593 (GRCh38)
19:10546269 (GRCh37)
Canonical SPDI:: NC_000019.10:10435591:AAA:A,NC_000019.10:10435591:AAA:AAAAA
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000031/4 (GnomAD)
-=0.067722/261 (ALSPAC)
-=0.072006/267 (TWINSUK)
HGVS:: NC_000019.10:g.10435593_10435594del, NC_000019.10:g.10435593_10435594dup, NC_000019.9:g.10546269_10546270del, NC_000019.9:g.10546269_10546270dup, NG_029594.1:g.23821_23822del, NG_029594.1:g.23821_23822dup

Select item 14915025573.

rs1491502557 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T [Show Flanks]
Chromosome:: 19:10432177 (GRCh38)
19:10542854 (GRCh37)
Canonical SPDI:: NC_000019.10:10432177::C,NC_000019.10:10432177::T
Gene:: PDE4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00011/6 (GnomAD)
HGVS:: NC_000019.10:g.10432177_10432178insC, NC_000019.10:g.10432177_10432178insT, NC_000019.9:g.10542853_10542854insC, NC_000019.9:g.10542853_10542854insT, NG_029594.1:g.20405_20406insC, NG_029594.1:g.20405_20406insT

Select item 14914464834.

rs1491446483 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:10462036 (GRCh38)
19:10572713 (GRCh37)
Canonical SPDI:: NC_000019.10:10462036:T:TT
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10462037dup, NC_000019.9:g.10572713dup, NG_029594.1:g.50265dup

Select item 14914151365.

rs1491415136 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:10463026 (GRCh38)
19:10573702 (GRCh37)
Canonical SPDI:: NC_000019.10:10463023:TTTT:TT
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.10463026_10463027del, NC_000019.9:g.10573702_10573703del, NG_029594.1:g.51254_51255del

Select item 14914066606.

rs1491406660 has merged into rs568009200 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGG>-,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:10432185 (GRCh38)
19:10542861 (GRCh37)
Canonical SPDI:: NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10432176:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.10432185_10432191del, NC_000019.10:g.10432187_10432191del, NC_000019.10:g.10432188_10432191del, NC_000019.10:g.10432189_10432191del, NC_000019.10:g.10432190_10432191del, NC_000019.10:g.10432191del, NC_000019.10:g.10432191dup, NC_000019.10:g.10432190_10432191dup, NC_000019.10:g.10432189_10432191dup, NC_000019.10:g.10432188_10432191dup, NC_000019.10:g.10432182_10432191dup, NC_000019.10:g.10432179_10432191dup, NC_000019.10:g.10432178_10432191dup, NC_000019.10:g.10432177_10432191dup, NC_000019.10:g.10432191_10432192insGGGGGGGGGGGGGGGGG, NC_000019.9:g.10542861_10542867del, NC_000019.9:g.10542863_10542867del, NC_000019.9:g.10542864_10542867del, NC_000019.9:g.10542865_10542867del, NC_000019.9:g.10542866_10542867del, NC_000019.9:g.10542867del, NC_000019.9:g.10542867dup, NC_000019.9:g.10542866_10542867dup, NC_000019.9:g.10542865_10542867dup, NC_000019.9:g.10542864_10542867dup, NC_000019.9:g.10542858_10542867dup, NC_000019.9:g.10542855_10542867dup, NC_000019.9:g.10542854_10542867dup, NC_000019.9:g.10542853_10542867dup, NC_000019.9:g.10542867_10542868insGGGGGGGGGGGGGGGGG, NG_029594.1:g.20413_20419del, NG_029594.1:g.20415_20419del, NG_029594.1:g.20416_20419del, NG_029594.1:g.20417_20419del, NG_029594.1:g.20418_20419del, NG_029594.1:g.20419del, NG_029594.1:g.20419dup, NG_029594.1:g.20418_20419dup, NG_029594.1:g.20417_20419dup, NG_029594.1:g.20416_20419dup, NG_029594.1:g.20410_20419dup, NG_029594.1:g.20407_20419dup, NG_029594.1:g.20406_20419dup, NG_029594.1:g.20405_20419dup, NG_029594.1:g.20419_20420insGGGGGGGGGGGGGGGGG

Select item 14913575657.

rs1491357565 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:10443544 (GRCh38)
19:10554220 (GRCh37)
Canonical SPDI:: NC_000019.10:10443543:CA:
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000019.10:g.10443544_10443545del, NC_000019.9:g.10554220_10554221del, NG_029594.1:g.31772_31773del

Select item 14913028958.

rs1491302895 has merged into rs35022243 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 19:10435577 (GRCh38)
19:10546253 (GRCh37)
Canonical SPDI:: NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000019.10:10435561:ACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: PDE4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
AC=0.29533/1479 (1000Genomes)
HGVS:: NC_000019.10:g.10435563CA[7], NC_000019.10:g.10435563CA[8], NC_000019.10:g.10435563CA[9], NC_000019.10:g.10435563CA[10], NC_000019.10:g.10435563CA[11], NC_000019.10:g.10435563CA[12], NC_000019.10:g.10435563CA[13], NC_000019.10:g.10435563CA[14], NC_000019.10:g.10435563CA[16], NC_000019.10:g.10435563CA[17], NC_000019.10:g.10435563CA[18], NC_000019.10:g.10435563CA[19], NC_000019.10:g.10435563CA[20], NC_000019.10:g.10435563CA[21], NC_000019.10:g.10435563CA[23], NC_000019.10:g.10435563CA[24], NC_000019.9:g.10546239CA[7], NC_000019.9:g.10546239CA[8], NC_000019.9:g.10546239CA[9], NC_000019.9:g.10546239CA[10], NC_000019.9:g.10546239CA[11], NC_000019.9:g.10546239CA[12], NC_000019.9:g.10546239CA[13], NC_000019.9:g.10546239CA[14], NC_000019.9:g.10546239CA[16], NC_000019.9:g.10546239CA[17], NC_000019.9:g.10546239CA[18], NC_000019.9:g.10546239CA[19], NC_000019.9:g.10546239CA[20], NC_000019.9:g.10546239CA[21], NC_000019.9:g.10546239CA[23], NC_000019.9:g.10546239CA[24], NG_029594.1:g.23791CA[7], NG_029594.1:g.23791CA[8], NG_029594.1:g.23791CA[9], NG_029594.1:g.23791CA[10], NG_029594.1:g.23791CA[11], NG_029594.1:g.23791CA[12], NG_029594.1:g.23791CA[13], NG_029594.1:g.23791CA[14], NG_029594.1:g.23791CA[16], NG_029594.1:g.23791CA[17], NG_029594.1:g.23791CA[18], NG_029594.1:g.23791CA[19], NG_029594.1:g.23791CA[20], NG_029594.1:g.23791CA[21], NG_029594.1:g.23791CA[23], NG_029594.1:g.23791CA[24]

Select item 14911891509.

rs1491189150 has merged into rs372266239 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,G,GG,GGG,GGGG,GGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:10457441 (GRCh38)
19:10568117 (GRCh37)
Canonical SPDI:: NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000019.10:10457431:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: PDE4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGG=0./0 (ALFA)
GGGG=0.3684/1845 (1000Genomes)
HGVS:: NC_000019.10:g.10457441_10457446del, NC_000019.10:g.10457442_10457446del, NC_000019.10:g.10457443_10457446del, NC_000019.10:g.10457444_10457446del, NC_000019.10:g.10457445_10457446del, NC_000019.10:g.10457446del, NC_000019.10:g.10457446dup, NC_000019.10:g.10457445_10457446dup, NC_000019.10:g.10457444_10457446dup, NC_000019.10:g.10457443_10457446dup, NC_000019.10:g.10457442_10457446dup, NC_000019.10:g.10457440_10457446dup, NC_000019.10:g.10457439_10457446dup, NC_000019.10:g.10457438_10457446dup, NC_000019.10:g.10457436_10457446dup, NC_000019.10:g.10457435_10457446dup, NC_000019.10:g.10457446_10457447insGGGGGGGGGGGGGGGGG, NC_000019.10:g.10457446_10457447insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000019.10:g.10457446_10457447insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000019.10:g.10457446_10457447insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.10568117_10568122del, NC_000019.9:g.10568118_10568122del, NC_000019.9:g.10568119_10568122del, NC_000019.9:g.10568120_10568122del, NC_000019.9:g.10568121_10568122del, NC_000019.9:g.10568122del, NC_000019.9:g.10568122dup, NC_000019.9:g.10568121_10568122dup, NC_000019.9:g.10568120_10568122dup, NC_000019.9:g.10568119_10568122dup, NC_000019.9:g.10568118_10568122dup, NC_000019.9:g.10568116_10568122dup, NC_000019.9:g.10568115_10568122dup, NC_000019.9:g.10568114_10568122dup, NC_000019.9:g.10568112_10568122dup, NC_000019.9:g.10568111_10568122dup, NC_000019.9:g.10568122_10568123insGGGGGGGGGGGGGGGGG, NC_000019.9:g.10568122_10568123insGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.10568122_10568123insGGGGGGGGGGGGGGGGGGGGGGGGGG, NC_000019.9:g.10568122_10568123insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_029594.1:g.45669_45674del, NG_029594.1:g.45670_45674del, NG_029594.1:g.45671_45674del, NG_029594.1:g.45672_45674del, NG_029594.1:g.45673_45674del, NG_029594.1:g.45674del, NG_029594.1:g.45674dup, NG_029594.1:g.45673_45674dup, NG_029594.1:g.45672_45674dup, NG_029594.1:g.45671_45674dup, NG_029594.1:g.45670_45674dup, NG_029594.1:g.45668_45674dup, NG_029594.1:g.45667_45674dup, NG_029594.1:g.45666_45674dup, NG_029594.1:g.45664_45674dup, NG_029594.1:g.45663_45674dup, NG_029594.1:g.45674_45675insGGGGGGGGGGGGGGGGG, NG_029594.1:g.45674_45675insGGGGGGGGGGGGGGGGGGGGGGGGG, NG_029594.1:g.45674_45675insGGGGGGGGGGGGGGGGGGGGGGGGGG, NG_029594.1:g.45674_45675insGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG

Select item 149116394910.

rs1491163949 has merged into rs61513692 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:10423167 (GRCh38)
19:10533843 (GRCh37)
Canonical SPDI:: NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10423157:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PDE4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000019.10:g.10423167_10423179del, NC_000019.10:g.10423168_10423179del, NC_000019.10:g.10423169_10423179del, NC_000019.10:g.10423170_10423179del, NC_000019.10:g.10423171_10423179del, NC_000019.10:g.10423172_10423179del, NC_000019.10:g.10423173_10423179del, NC_000019.10:g.10423174_10423179del, NC_000019.10:g.10423175_10423179del, NC_000019.10:g.10423176_10423179del, NC_000019.10:g.10423177_10423179del, NC_000019.10:g.10423178_10423179del, NC_000019.10:g.10423179del, NC_000019.10:g.10423179dup, NC_000019.10:g.10423178_10423179dup, NC_000019.10:g.10423177_10423179dup, NC_000019.10:g.10423176_10423179dup, NC_000019.10:g.10423175_10423179dup, NC_000019.10:g.10423174_10423179dup, NC_000019.10:g.10423173_10423179dup, NC_000019.10:g.10423172_10423179dup, NC_000019.10:g.10423171_10423179dup, NC_000019.9:g.10533843_10533855del, NC_000019.9:g.10533844_10533855del, NC_000019.9:g.10533845_10533855del, NC_000019.9:g.10533846_10533855del, NC_000019.9:g.10533847_10533855del, NC_000019.9:g.10533848_10533855del, NC_000019.9:g.10533849_10533855del, NC_000019.9:g.10533850_10533855del, NC_000019.9:g.10533851_10533855del, NC_000019.9:g.10533852_10533855del, NC_000019.9:g.10533853_10533855del, NC_000019.9:g.10533854_10533855del, NC_000019.9:g.10533855del, NC_000019.9:g.10533855dup, NC_000019.9:g.10533854_10533855dup, NC_000019.9:g.10533853_10533855dup, NC_000019.9:g.10533852_10533855dup, NC_000019.9:g.10533851_10533855dup, NC_000019.9:g.10533850_10533855dup, NC_000019.9:g.10533849_10533855dup, NC_000019.9:g.10533848_10533855dup, NC_000019.9:g.10533847_10533855dup, NG_029594.1:g.11395_11407del, NG_029594.1:g.11396_11407del, NG_029594.1:g.11397_11407del, NG_029594.1:g.11398_11407del, NG_029594.1:g.11399_11407del, NG_029594.1:g.11400_11407del, NG_029594.1:g.11401_11407del, NG_029594.1:g.11402_11407del, NG_029594.1:g.11403_11407del, NG_029594.1:g.11404_11407del, NG_029594.1:g.11405_11407del, NG_029594.1:g.11406_11407del, NG_029594.1:g.11407del, NG_029594.1:g.11407dup, NG_029594.1:g.11406_11407dup, NG_029594.1:g.11405_11407dup, NG_029594.1:g.11404_11407dup, NG_029594.1:g.11403_11407dup, NG_029594.1:g.11402_11407dup, NG_029594.1:g.11401_11407dup, NG_029594.1:g.11400_11407dup, NG_029594.1:g.11399_11407dup

Select item 149112693511.

rs1491126935 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 19:10432176 (GRCh38)
19:10542852 (GRCh37)
Canonical SPDI:: NC_000019.10:10432175:CG:
Gene:: PDE4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00014/3 (TOMMO)
HGVS:: NC_000019.10:g.10432176_10432177del, NC_000019.9:g.10542852_10542853del, NG_029594.1:g.20404_20405del

Select item 149110383012.

rs1491103830 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCT>-,TTCCTTTCCT [Show Flanks]
Chromosome:: 19:10463036 (GRCh38)
19:10573712 (GRCh37)
Canonical SPDI:: NC_000019.10:10463024:TTTCCTTTCCTTTCCT:TTTCCTTTCCT,NC_000019.10:10463024:TTTCCTTTCCTTTCCT:TTTCCTTTCCTTTCCTTTCCT
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCCTTTCCTTTCCTTTCCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
TTTCC=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.10463026TTCCT[2], NC_000019.10:g.10463026TTCCT[4], NC_000019.9:g.10573702TTCCT[2], NC_000019.9:g.10573702TTCCT[4], NG_029594.1:g.51254TTCCT[2], NG_029594.1:g.51254TTCCT[4]

Select item 149108481213.

rs1491084812 has merged into rs112947570 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGAGA [Show Flanks]
Chromosome:: 19:10429294 (GRCh38)
19:10539970 (GRCh37)
Canonical SPDI:: NC_000019.10:10429292:AGA:A,NC_000019.10:10429292:AGA:AGAGA,NC_000019.10:10429292:AGA:AGAGAGAGA
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0.18326/1601 (ALFA)
AG=0.395/237 (NorthernSweden)
AG=0.41849/7014 (TOMMO)
AG=0.4199/1557 (TWINSUK)
AG=0.42787/1649 (ALSPAC)
-=0.47424/2375 (1000Genomes)
HGVS:: NC_000019.10:g.10429294_10429295del, NC_000019.10:g.10429294_10429295dup, NC_000019.10:g.10429294GA[4], NC_000019.9:g.10539970_10539971del, NC_000019.9:g.10539970_10539971dup, NC_000019.9:g.10539970GA[4], NG_029594.1:g.17522_17523del, NG_029594.1:g.17522_17523dup, NG_029594.1:g.17522GA[4]

Select item 149107478614.

rs1491074786 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:10428393 (GRCh38)
19:10539070 (GRCh37)
Canonical SPDI:: NC_000019.10:10428393:T:TT
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10428394dup, NC_000019.9:g.10539070dup, NG_029594.1:g.16622dup

Select item 149101217815.

rs1491012178 has merged into rs5827099 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:10428005 (GRCh38)
19:10538681 (GRCh37)
Canonical SPDI:: NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:10427993:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PDE4A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.2584/996 (ALSPAC)
HGVS:: NC_000019.10:g.10428005_10428012del, NC_000019.10:g.10428006_10428012del, NC_000019.10:g.10428007_10428012del, NC_000019.10:g.10428008_10428012del, NC_000019.10:g.10428009_10428012del, NC_000019.10:g.10428010_10428012del, NC_000019.10:g.10428011_10428012del, NC_000019.10:g.10428012del, NC_000019.10:g.10428012dup, NC_000019.10:g.10428011_10428012dup, NC_000019.10:g.10428006_10428012dup, NC_000019.9:g.10538681_10538688del, NC_000019.9:g.10538682_10538688del, NC_000019.9:g.10538683_10538688del, NC_000019.9:g.10538684_10538688del, NC_000019.9:g.10538685_10538688del, NC_000019.9:g.10538686_10538688del, NC_000019.9:g.10538687_10538688del, NC_000019.9:g.10538688del, NC_000019.9:g.10538688dup, NC_000019.9:g.10538687_10538688dup, NC_000019.9:g.10538682_10538688dup, NG_029594.1:g.16233_16240del, NG_029594.1:g.16234_16240del, NG_029594.1:g.16235_16240del, NG_029594.1:g.16236_16240del, NG_029594.1:g.16237_16240del, NG_029594.1:g.16238_16240del, NG_029594.1:g.16239_16240del, NG_029594.1:g.16240del, NG_029594.1:g.16240dup, NG_029594.1:g.16239_16240dup, NG_029594.1:g.16234_16240dup

Select item 149093015316.

rs1490930153 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10419780 (GRCh38)
19:10530456 (GRCh37)
Canonical SPDI:: NC_000019.10:10419779:G:A
Gene:: PDE4A (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.10419780G>A, NC_000019.9:g.10530456G>A, NG_029594.1:g.8008G>A

Select item 149088468017.

rs1490884680 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:10441697 (GRCh38)
19:10552373 (GRCh37)
Canonical SPDI:: NC_000019.10:10441696:T:A
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10441697T>A, NC_000019.9:g.10552373T>A, NG_029594.1:g.29925T>A

Select item 149086930118.

rs1490869301 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 19:10444003 (GRCh38)
19:10554680 (GRCh37)
Canonical SPDI:: NC_000019.10:10444003::A,NC_000019.10:10444003::AA
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000019.10:g.10444003_10444004insA, NC_000019.10:g.10444003_10444004insAA, NC_000019.9:g.10554679_10554680insA, NC_000019.9:g.10554679_10554680insAA, NG_029594.1:g.32231_32232insA, NG_029594.1:g.32231_32232insAA

Select item 149084832619.

rs1490848326 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10470689 (GRCh38)
19:10581365 (GRCh37)
Canonical SPDI:: NC_000019.10:10470688:T:C
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.10470689T>C, NC_000019.9:g.10581365T>C, NG_029594.1:g.58917T>C

Select item 149076365320.

rs1490763653 [Homo sapiens]

Variant type:: DEL
Alleles:: ATT>- [Show Flanks]
Chromosome:: 19:10463704 (GRCh38)
19:10574380 (GRCh37)
Canonical SPDI:: NC_000019.10:10463703:ATT:
Gene:: PDE4A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10463704_10463706del, NC_000019.9:g.10574380_10574382del, NG_029594.1:g.51932_51934del

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