SNP Links for Gene (Select 440456) - SNP

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Select item 14914667431.

rs1491466743 has merged into rs1285599608 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:64837983 (GRCh38)
17:62834101 (GRCh37)
Canonical SPDI:: NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:64837970:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.003413/2 (NorthernSweden)
HGVS:: NC_000017.11:g.64837983_64837990del, NC_000017.11:g.64837984_64837990del, NC_000017.11:g.64837986_64837990del, NC_000017.11:g.64837987_64837990del, NC_000017.11:g.64837988_64837990del, NC_000017.11:g.64837989_64837990del, NC_000017.11:g.64837990del, NC_000017.11:g.64837990dup, NC_000017.11:g.64837989_64837990dup, NC_000017.11:g.64837988_64837990dup, NC_000017.11:g.64837987_64837990dup, NC_000017.11:g.64837986_64837990dup, NC_000017.11:g.64837985_64837990dup, NC_000017.11:g.64837984_64837990dup, NC_000017.10:g.62834101_62834108del, NC_000017.10:g.62834102_62834108del, NC_000017.10:g.62834104_62834108del, NC_000017.10:g.62834105_62834108del, NC_000017.10:g.62834106_62834108del, NC_000017.10:g.62834107_62834108del, NC_000017.10:g.62834108del, NC_000017.10:g.62834108dup, NC_000017.10:g.62834107_62834108dup, NC_000017.10:g.62834106_62834108dup, NC_000017.10:g.62834105_62834108dup, NC_000017.10:g.62834104_62834108dup, NC_000017.10:g.62834103_62834108dup, NC_000017.10:g.62834102_62834108dup

Select item 14914150062.

rs1491415006 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 17:64837971 (GRCh38)
17:62834090 (GRCh37)
Canonical SPDI:: NC_000017.11:64837971:T:TCT
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64837972_64837973insCT, NC_000017.10:g.62834090_62834091insCT

Select item 14913751453.

rs1491375145 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCATTG [Show Flanks]
Chromosome:: 17:64811965 (GRCh38)
17:62808084 (GRCh37)
Canonical SPDI:: NC_000017.11:64811965:G:GTCATTG
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTCATTG=0.000071/1 (ALFA)
GTCATT=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.64811966_64811967insTCATTG, NC_000017.10:g.62808084_62808085insTCATTG

Select item 14909925624.

rs1490992562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:64799606 (GRCh38)
17:62795724 (GRCh37)
Canonical SPDI:: NC_000017.11:64799605:A:T
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.64799606A>T, NC_000017.10:g.62795724A>T

Select item 14909338535.

rs1490933853 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:64816038 (GRCh38)
17:62812156 (GRCh37)
Canonical SPDI:: NC_000017.11:64816037:G:A
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64816038G>A, NC_000017.10:g.62812156G>A

Select item 14908243076.

rs1490824307 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:64825769 (GRCh38)
17:62821887 (GRCh37)
Canonical SPDI:: NC_000017.11:64825768:G:A,NC_000017.11:64825768:G:T
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000253/3 (ALFA)
A=0.000149/20 (GnomAD)
HGVS:: NC_000017.11:g.64825769G>A, NC_000017.11:g.64825769G>T, NC_000017.10:g.62821887G>A, NC_000017.10:g.62821887G>T, NG_045931.1:g.151C>T, NG_045931.1:g.151C>A

Select item 14908197597.

rs1490819759 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:64823727 (GRCh38)
17:62819845 (GRCh37)
Canonical SPDI:: NC_000017.11:64823726:T:C
Gene:: PLEKHM1P1 (Varview), MIR4315-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64823727T>C, NC_000017.10:g.62819845T>C

Select item 14908005078.

rs1490800507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:64791748 (GRCh38)
17:62787866 (GRCh37)
Canonical SPDI:: NC_000017.11:64791747:C:T
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64791748C>T, NC_000017.10:g.62787866C>T

Select item 14907804109.

rs1490780410 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:64800599 (GRCh38)
17:62796717 (GRCh37)
Canonical SPDI:: NC_000017.11:64800598:T:A
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.0001/1 (ALFA)
HGVS:: NC_000017.11:g.64800599T>A, NC_000017.10:g.62796717T>A, NR_024386.2:n.1234A>T, NR_024386.1:n.1234A>T

Select item 149077114310.

rs1490771143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:64789587 (GRCh38)
17:62785705 (GRCh37)
Canonical SPDI:: NC_000017.11:64789586:G:T
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64789587G>T, NC_000017.10:g.62785705G>T

Select item 149065114511.

rs1490651145 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:64790710 (GRCh38)
17:62786828 (GRCh37)
Canonical SPDI:: NC_000017.11:64790709:C:A
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00042/5 (ALFA)
HGVS:: NC_000017.11:g.64790710C>A, NC_000017.10:g.62786828C>A

Select item 149060056212.

rs1490600562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:64791603 (GRCh38)
17:62787721 (GRCh37)
Canonical SPDI:: NC_000017.11:64791602:T:C
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64791603T>C, NC_000017.10:g.62787721T>C

Select item 149059245813.

rs1490592458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:64806285 (GRCh38)
17:62802403 (GRCh37)
Canonical SPDI:: NC_000017.11:64806284:T:A,NC_000017.11:64806284:T:C
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.64806285T>A, NC_000017.11:g.64806285T>C, NC_000017.10:g.62802403T>A, NC_000017.10:g.62802403T>C

Select item 149057041414.

rs1490570414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:64806896 (GRCh38)
17:62803014 (GRCh37)
Canonical SPDI:: NC_000017.11:64806895:A:G
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_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_000017.11:g.64806896A>G, NC_000017.10:g.62803014A>G

Select item 149055709015.

rs1490557090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:64807349 (GRCh38)
17:62803467 (GRCh37)
Canonical SPDI:: NC_000017.11:64807348:T:G
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64807349T>G, NC_000017.10:g.62803467T>G

Select item 149051868316.

rs1490518683 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTTGA>- [Show Flanks]
Chromosome:: 17:64822596 (GRCh38)
17:62818714 (GRCh37)
Canonical SPDI:: NC_000017.11:64822594:ACTTGA:A
Gene:: PLEKHM1P1 (Varview), MIR4315-2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.64822596_64822600del, NC_000017.10:g.62818714_62818718del

Select item 149050279517.

rs1490502795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:64799139 (GRCh38)
17:62795257 (GRCh37)
Canonical SPDI:: NC_000017.11:64799138:G:T
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.64799139G>T, NC_000017.10:g.62795257G>T

Select item 149038717918.

rs1490387179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:64826837 (GRCh38)
17:62822955 (GRCh37)
Canonical SPDI:: NC_000017.11:64826836:C:A
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000017.11:g.64826837C>A, NC_000017.10:g.62822955C>A

Select item 149037060519.

rs1490370605 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:64831576 (GRCh38)
17:62827694 (GRCh37)
Canonical SPDI:: NC_000017.11:64831575:G:A
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.64831576G>A, NC_000017.10:g.62827694G>A

Select item 149029759320.

rs1490297593 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:64814203 (GRCh38)
17:62810321 (GRCh37)
Canonical SPDI:: NC_000017.11:64814202:A:C
Gene:: PLEKHM1P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.64814203A>C, NC_000017.10:g.62810321A>C

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