SNP Links for Gene (Select 3632) - SNP

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Select item 14915804651.

rs1491580465 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACATGTG,CATGTG [Show Flanks]
Chromosome:: 10:132596973 (GRCh38)
10:134410478 (GRCh37)
Canonical SPDI:: NC_000010.11:132596973::CACATGTG,NC_000010.11:132596973::CATGTG
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACATGTG=0./0 (ALFA)
HGVS:: NC_000010.11:g.132596973_132596974insCACATGTG, NC_000010.11:g.132596973_132596974insCATGTG, NC_000010.10:g.134410477_134410478insCACATGTG, NC_000010.10:g.134410477_134410478insCATGTG

Select item 14915527752.

rs1491552775 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:132625878 (GRCh38)
10:134439382 (GRCh37)
Canonical SPDI:: NC_000010.11:132625876:TTT:T
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.132625878_132625879del, NC_000010.10:g.134439382_134439383del

Select item 14915308413.

rs1491530841 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:132755047 (GRCh38)
10:134568551 (GRCh37)
Canonical SPDI:: NC_000010.11:132755046:AT:
Gene:: INPP5A (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.00003/8 (TOPMED)
HGVS:: NC_000010.11:g.132755047_132755048del, NC_000010.10:g.134568551_134568552del, XM_017016205.2:c.*783_*784del, XM_017016205.1:c.*783_*784del

Select item 14915244534.

rs1491524453 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 10:132715239 (GRCh38)
10:134528743 (GRCh37)
Canonical SPDI:: NC_000010.11:132715237:TTT:T
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.132715239_132715240del, NC_000010.10:g.134528743_134528744del

Select item 14915012175.

rs1491501217 [Homo sapiens]

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

Select item 14915003636.

rs1491500363 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:132596957 (GRCh38)
10:134410461 (GRCh37)
Canonical SPDI:: NC_000010.11:132596956:AT:
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.000177/3 (TOMMO)
-=0.003344/2 (NorthernSweden)
-=0.004393/22 (1000Genomes)
-=0.005155/630 (GnomAD)
HGVS:: NC_000010.11:g.132596957_132596958del, NC_000010.10:g.134410461_134410462del

Select item 14914634727.

rs1491463472 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGG [Show Flanks]
Chromosome:: 10:132628464 (GRCh38)
10:134441969 (GRCh37)
Canonical SPDI:: NC_000010.11:132628464:GGG:GGGAGGG
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGAGGG=0.000071/1 (ALFA)
GGGA=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.132628467_132628468insAGGG, NC_000010.10:g.134441971_134441972insAGGG, NG_054057.1:g.43_44insAGGG

Select item 14914467068.

rs1491446706 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 10:132625877 (GRCh38)
10:134439382 (GRCh37)
Canonical SPDI:: NC_000010.11:132625877::G
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.00011/3 (TOMMO)
HGVS:: NC_000010.11:g.132625877_132625878insG, NC_000010.10:g.134439381_134439382insG

Select item 14913894729.

rs1491389472 has merged into rs55668291 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGGGGG>-,GG,GGG,GGGG,GGGGG,GGGGGG,GGGGGGG,GGGGGGGG,GGGGGGGGGG,GGGGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 10:132628470 (GRCh38)
10:134441974 (GRCh37)
Canonical SPDI:: NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG,NC_000010.11:132628463:GGGGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
G=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.132628470_132628478del, NC_000010.11:g.132628472_132628478del, NC_000010.11:g.132628473_132628478del, NC_000010.11:g.132628474_132628478del, NC_000010.11:g.132628475_132628478del, NC_000010.11:g.132628476_132628478del, NC_000010.11:g.132628477_132628478del, NC_000010.11:g.132628478del, NC_000010.11:g.132628478dup, NC_000010.11:g.132628477_132628478dup, NC_000010.11:g.132628476_132628478dup, NC_000010.11:g.132628475_132628478dup, NC_000010.11:g.132628474_132628478dup, NC_000010.11:g.132628473_132628478dup, NC_000010.11:g.132628472_132628478dup, NC_000010.11:g.132628471_132628478dup, NC_000010.11:g.132628470_132628478dup, NC_000010.11:g.132628469_132628478dup, NC_000010.11:g.132628468_132628478dup, NC_000010.11:g.132628467_132628478dup, NC_000010.11:g.132628466_132628478dup, NC_000010.11:g.132628465_132628478dup, NC_000010.11:g.132628464_132628478dup, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGGGGGG, NC_000010.11:g.132628478_132628479insGGGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441974_134441982del, NC_000010.10:g.134441976_134441982del, NC_000010.10:g.134441977_134441982del, NC_000010.10:g.134441978_134441982del, NC_000010.10:g.134441979_134441982del, NC_000010.10:g.134441980_134441982del, NC_000010.10:g.134441981_134441982del, NC_000010.10:g.134441982del, NC_000010.10:g.134441982dup, NC_000010.10:g.134441981_134441982dup, NC_000010.10:g.134441980_134441982dup, NC_000010.10:g.134441979_134441982dup, NC_000010.10:g.134441978_134441982dup, NC_000010.10:g.134441977_134441982dup, NC_000010.10:g.134441976_134441982dup, NC_000010.10:g.134441975_134441982dup, NC_000010.10:g.134441974_134441982dup, NC_000010.10:g.134441973_134441982dup, NC_000010.10:g.134441972_134441982dup, NC_000010.10:g.134441971_134441982dup, NC_000010.10:g.134441970_134441982dup, NC_000010.10:g.134441969_134441982dup, NC_000010.10:g.134441968_134441982dup, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGGGGGG, NC_000010.10:g.134441982_134441983insGGGGGGGGGGGGGGGGGGGGGG, NG_054057.1:g.46_54del, NG_054057.1:g.48_54del, NG_054057.1:g.49_54del, NG_054057.1:g.50_54del, NG_054057.1:g.51_54del, NG_054057.1:g.52_54del, NG_054057.1:g.53_54del, NG_054057.1:g.54del, NG_054057.1:g.54dup, NG_054057.1:g.53_54dup, NG_054057.1:g.52_54dup, NG_054057.1:g.51_54dup, NG_054057.1:g.50_54dup, NG_054057.1:g.49_54dup, NG_054057.1:g.48_54dup, NG_054057.1:g.47_54dup, NG_054057.1:g.46_54dup, NG_054057.1:g.45_54dup, NG_054057.1:g.44_54dup, NG_054057.1:g.43_54dup, NG_054057.1:g.42_54dup, NG_054057.1:g.41_54dup, NG_054057.1:g.40_54dup, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGGGGGG, NG_054057.1:g.54_55insGGGGGGGGGGGGGGGGGGGGGG

Select item 149138512810.

rs1491385128 [Homo sapiens]

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

Select item 149135372211.

rs1491353722 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:132597087 (GRCh38)
10:134410591 (GRCh37)
Canonical SPDI:: NC_000010.11:132597085:TAT:T
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.132597087_132597088del, NC_000010.10:g.134410591_134410592del

Select item 149134804712.

rs1491348047 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 10:132766932 (GRCh38)
10:134580437 (GRCh37)
Canonical SPDI:: NC_000010.11:132766932::A
Gene:: INPP5A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00098/16 (ALFA)
A=0.0001/13 (GnomAD)
A=0.00046/13 (TOMMO)
HGVS:: NC_000010.11:g.132766932_132766933insA, NC_000010.10:g.134580436_134580437insA

Select item 149133311613.

rs1491333116 [Homo sapiens]

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

Select item 149131988514.

rs1491319885 has merged into rs3078519 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 10:132688827 (GRCh38)
10:134502331 (GRCh37)
Canonical SPDI:: NC_000010.11:132688825:GTG:G,NC_000010.11:132688825:GTG:GTGTG
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0.00336/15 (ALFA)
-=0./0 (Korea1K)
-=0./0 (Vietnamese)
-=0.00007/1 (TOMMO)
-=0.00167/1 (NorthernSweden)
-=0.00335/15 (Estonian)
-=0.00919/46 (1000Genomes)
-=0.01403/14 (GoNL)
HGVS:: NC_000010.11:g.132688827_132688828del, NC_000010.11:g.132688827_132688828dup, NC_000010.10:g.134502331_134502332del, NC_000010.10:g.134502331_134502332dup

Select item 149131837615.

rs1491318376 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:132766933 (GRCh38)
10:134580437 (GRCh37)
Canonical SPDI:: NC_000010.11:132766931:GTG:G
Gene:: INPP5A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.132766933_132766934del, NC_000010.10:g.134580437_134580438del

Select item 149131717016.

rs1491317170 [Homo sapiens]

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

Select item 149121783817.

rs1491217838 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATGTG [Show Flanks]
Chromosome:: 10:132712770 (GRCh38)
10:134526275 (GRCh37)
Canonical SPDI:: NC_000010.11:132712770:TGTG:TGTGCATGTG
Gene:: INPP5A (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGCATGTG=0./0 (ALFA)
HGVS:: NC_000010.11:g.132712771_132712774TG[2]CATGTG[1], NC_000010.10:g.134526275_134526278TG[2]CATGTG[1]

Select item 149121399518.

rs1491213995 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 10:132763701 (GRCh38)
10:134577205 (GRCh37)
Canonical SPDI:: NC_000010.11:132763700:AT:
Gene:: INPP5A (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000071/2 (TOMMO)
HGVS:: NC_000010.11:g.132763701_132763702del, NC_000010.10:g.134577205_134577206del

Select item 149120777919.

rs1491207779 [Homo sapiens]

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

Select item 149117502920.

rs1491175029 has merged into rs796203592 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGCATGTGTGTGCATG>-,TGTGTGCATG,TGTGTGCATGTGTGTGCATGTGTGTGCATG [Show Flanks]
Chromosome:: 10:132596862 (GRCh38)
10:134410366 (GRCh37)
Canonical SPDI:: NC_000010.11:132596849:TGTGTGTGCATGTGTGTGCATGTGTGTGCATG:TGTGTGTGCATG,NC_000010.11:132596849:TGTGTGTGCATGTGTGTGCATGTGTGTGCATG:TGTGTGTGCATGTGTGTGCATG,NC_000010.11:132596849:TGTGTGTGCATGTGTGTGCATGTGTGTGCATG:TGTGTGTGCATGTGTGTGCATGTGTGTGCATGTGTGTGCATG
Gene:: INPP5A (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGCATGTGTGTGCATG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000283/4 (TOMMO)
-=0.001931/3 (Korea1K)
HGVS:: NC_000010.11:g.132596852TGTGTGCATG[1], NC_000010.11:g.132596852TGTGTGCATG[2], NC_000010.11:g.132596852TGTGTGCATG[4], NC_000010.10:g.134410356TGTGTGCATG[1], NC_000010.10:g.134410356TGTGTGCATG[2], NC_000010.10:g.134410356TGTGTGCATG[4]

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