SNP Links for Gene (Select 23633) - SNP

Links from Gene

Items: 1 to 20 of 16986

<< First< Prev

Page of 850

Next >Last >>

Select item 14915517011.

rs1491551701 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:32142255 (GRCh38)
1:32607856 (GRCh37)
Canonical SPDI:: NC_000001.11:32142254:CA:
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00056/9 (ALFA)
-=0.00028/14 (GnomAD)
HGVS:: NC_000001.11:g.32142255_32142256del, NC_000001.10:g.32607856_32607857del

Select item 14915378872.

rs1491537887 has merged into rs376077938 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32167857 (GRCh38)
1:32633458 (GRCh37)
Canonical SPDI:: NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32167853:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.32167857_32167868del, NC_000001.11:g.32167859_32167868del, NC_000001.11:g.32167866_32167868del, NC_000001.11:g.32167867_32167868del, NC_000001.11:g.32167868del, NC_000001.11:g.32167868dup, NC_000001.11:g.32167867_32167868dup, NC_000001.11:g.32167866_32167868dup, NC_000001.11:g.32167865_32167868dup, NC_000001.11:g.32167862_32167868dup, NC_000001.11:g.32167859_32167868dup, NC_000001.11:g.32167856_32167868dup, NC_000001.11:g.32167868_32167869insAAAAAAAAAAAAAAAAAA, NC_000001.10:g.32633458_32633469del, NC_000001.10:g.32633460_32633469del, NC_000001.10:g.32633467_32633469del, NC_000001.10:g.32633468_32633469del, NC_000001.10:g.32633469del, NC_000001.10:g.32633469dup, NC_000001.10:g.32633468_32633469dup, NC_000001.10:g.32633467_32633469dup, NC_000001.10:g.32633466_32633469dup, NC_000001.10:g.32633463_32633469dup, NC_000001.10:g.32633460_32633469dup, NC_000001.10:g.32633457_32633469dup, NC_000001.10:g.32633469_32633470insAAAAAAAAAAAAAAAAAA

Select item 14914907483.

rs1491490748 has merged into rs912635889 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32122968 (GRCh38)
1:32588569 (GRCh37)
Canonical SPDI:: NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32122957:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.01773/10 (NorthernSweden)
HGVS:: NC_000001.11:g.32122968_32122976del, NC_000001.11:g.32122969_32122976del, NC_000001.11:g.32122970_32122976del, NC_000001.11:g.32122971_32122976del, NC_000001.11:g.32122972_32122976del, NC_000001.11:g.32122973_32122976del, NC_000001.11:g.32122974_32122976del, NC_000001.11:g.32122975_32122976del, NC_000001.11:g.32122976del, NC_000001.11:g.32122976dup, NC_000001.11:g.32122975_32122976dup, NC_000001.11:g.32122974_32122976dup, NC_000001.10:g.32588569_32588577del, NC_000001.10:g.32588570_32588577del, NC_000001.10:g.32588571_32588577del, NC_000001.10:g.32588572_32588577del, NC_000001.10:g.32588573_32588577del, NC_000001.10:g.32588574_32588577del, NC_000001.10:g.32588575_32588577del, NC_000001.10:g.32588576_32588577del, NC_000001.10:g.32588577del, NC_000001.10:g.32588577dup, NC_000001.10:g.32588576_32588577dup, NC_000001.10:g.32588575_32588577dup

Select item 14914886624.

rs1491488662 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA [Show Flanks]
Chromosome:: 1:32119033 (GRCh38)
1:32584635 (GRCh37)
Canonical SPDI:: NC_000001.11:32119033::A,NC_000001.11:32119033::ATA,NC_000001.11:32119033::ATATA,NC_000001.11:32119033::ATATATA,NC_000001.11:32119033::ATATATATA,NC_000001.11:32119033::ATATATATATA,NC_000001.11:32119033::ATATATATATATA,NC_000001.11:32119033::ATATATATATATATA,NC_000001.11:32119033::ATATATATATATATATA,NC_000001.11:32119033::ATATATATATATATATATA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.32119033_32119034insA, NC_000001.11:g.32119033_32119034insATA, NC_000001.11:g.32119033_32119034insATATA, NC_000001.11:g.32119033_32119034insATATATA, NC_000001.11:g.32119033_32119034insATATATATA, NC_000001.11:g.32119033_32119034insATATATATATA, NC_000001.11:g.32119033_32119034insATATATATATATA, NC_000001.11:g.32119033_32119034insATATATATATATATA, NC_000001.11:g.32119033_32119034insATATATATATATATATA, NC_000001.11:g.32119033_32119034insATATATATATATATATATA, NC_000001.10:g.32584634_32584635insA, NC_000001.10:g.32584634_32584635insATA, NC_000001.10:g.32584634_32584635insATATA, NC_000001.10:g.32584634_32584635insATATATA, NC_000001.10:g.32584634_32584635insATATATATA, NC_000001.10:g.32584634_32584635insATATATATATA, NC_000001.10:g.32584634_32584635insATATATATATATA, NC_000001.10:g.32584634_32584635insATATATATATATATA, NC_000001.10:g.32584634_32584635insATATATATATATATATA, NC_000001.10:g.32584634_32584635insATATATATATATATATATA

Select item 14914622385.

rs1491462238 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:32138543 (GRCh38)
1:32604144 (GRCh37)
Canonical SPDI:: NC_000001.11:32138542:CA:
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.32138543_32138544del, NC_000001.10:g.32604144_32604145del

Select item 14914221606.

rs1491422160 has merged into rs554895996 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:32153578 (GRCh38)
1:32619179 (GRCh37)
Canonical SPDI:: NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:32153571:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.05/2 (GENOME_DK)
-=0.16334/818 (1000Genomes)
HGVS:: NC_000001.11:g.32153578_32153590del, NC_000001.11:g.32153580_32153590del, NC_000001.11:g.32153581_32153590del, NC_000001.11:g.32153584_32153590del, NC_000001.11:g.32153586_32153590del, NC_000001.11:g.32153587_32153590del, NC_000001.11:g.32153588_32153590del, NC_000001.11:g.32153589_32153590del, NC_000001.11:g.32153590del, NC_000001.11:g.32153590dup, NC_000001.11:g.32153589_32153590dup, NC_000001.11:g.32153588_32153590dup, NC_000001.11:g.32153587_32153590dup, NC_000001.11:g.32153586_32153590dup, NC_000001.11:g.32153590_32153591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.32619179_32619191del, NC_000001.10:g.32619181_32619191del, NC_000001.10:g.32619182_32619191del, NC_000001.10:g.32619185_32619191del, NC_000001.10:g.32619187_32619191del, NC_000001.10:g.32619188_32619191del, NC_000001.10:g.32619189_32619191del, NC_000001.10:g.32619190_32619191del, NC_000001.10:g.32619191del, NC_000001.10:g.32619191dup, NC_000001.10:g.32619190_32619191dup, NC_000001.10:g.32619189_32619191dup, NC_000001.10:g.32619188_32619191dup, NC_000001.10:g.32619187_32619191dup, NC_000001.10:g.32619191_32619192insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14913644167.

rs1491364416 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTAT [Show Flanks]
Chromosome:: 1:32159822 (GRCh38)
1:32625424 (GRCh37)
Canonical SPDI:: NC_000001.11:32159822:TCTAT:TCTATCTAT
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTATCTAT=0./0 (ALFA)
TCTA=0.000007/1 (GnomAD)
TCTA=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.32159824_32159827dup, NC_000001.10:g.32625425_32625428dup

Select item 14913629828.

rs1491362982 has merged into rs1293589892 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTTT [Show Flanks]
Chromosome:: 1:32128387 (GRCh38)
1:32593988 (GRCh37)
Canonical SPDI:: NC_000001.11:32128385:TTT:T,NC_000001.11:32128385:TTT:TT,NC_000001.11:32128385:TTT:TTTTT
Gene:: KPNA6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.32128387_32128388del, NC_000001.11:g.32128388del, NC_000001.11:g.32128387_32128388dup, NC_000001.10:g.32593988_32593989del, NC_000001.10:g.32593989del, NC_000001.10:g.32593988_32593989dup

Select item 14913582989.

rs1491358298 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:32159824 (GRCh38)
1:32625425 (GRCh37)
Canonical SPDI:: NC_000001.11:32159821:CTCT:CT
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.000054/1 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.32159822CT[1], NC_000001.10:g.32625423CT[1]

Select item 149130450810.

rs1491304508 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TACACACACA,TACATACA,TATACA,TATACACA,TATACACACACA,TATACACACACACA,TATATACA,TATATACACA,TATATATACA,TATATATACACA,TATATATATACA,TATATATATACACA,TATATATATATACA,TATATATATATACACA,TATATATATATATACA,TATATATATATATATACA,TATATATATATATATACACA,TATATATATATATATATACA,TATATATATATATATATATACA,TATATATATATATATATATATATACA [Show Flanks]
Chromosome:: 1:32128426 (GRCh38)
1:32594028 (GRCh37)
Canonical SPDI:: NC_000001.11:32128426:A:ATACA,NC_000001.11:32128426:A:ATACACA,NC_000001.11:32128426:A:ATACACACACA,NC_000001.11:32128426:A:ATACATACA,NC_000001.11:32128426:A:ATATACA,NC_000001.11:32128426:A:ATATACACA,NC_000001.11:32128426:A:ATATACACACACA,NC_000001.11:32128426:A:ATATACACACACACA,NC_000001.11:32128426:A:ATATATACA,NC_000001.11:32128426:A:ATATATACACA,NC_000001.11:32128426:A:ATATATATACA,NC_000001.11:32128426:A:ATATATATACACA,NC_000001.11:32128426:A:ATATATATATACA,NC_000001.11:32128426:A:ATATATATATACACA,NC_000001.11:32128426:A:ATATATATATATACA,NC_000001.11:32128426:A:ATATATATATATACACA,NC_000001.11:32128426:A:ATATATATATATATACA,NC_000001.11:32128426:A:ATATATATATATATATACA,NC_000001.11:32128426:A:ATATATATATATATATACACA,NC_000001.11:32128426:A:ATATATATATATATATATACA,NC_000001.11:32128426:A:ATATATATATATATATATATACA,NC_000001.11:32128426:A:ATATATATATATATATATATATATACA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
HGVS:: NC_000001.11:g.32128427_32128428insTACA, NC_000001.11:g.32128427_32128428insTACACA, NC_000001.11:g.32128427_32128428insTACACACACA, NC_000001.11:g.32128427_32128428insTACATACA, NC_000001.11:g.32128427AT[2]ACA[1], NC_000001.11:g.32128427AT[2]AC[2]A[1], NC_000001.11:g.32128427AT[2]AC[4]A[1], NC_000001.11:g.32128427AT[2]AC[5]A[1], NC_000001.11:g.32128427AT[3]ACA[1], NC_000001.11:g.32128427AT[3]AC[2]A[1], NC_000001.11:g.32128427AT[4]ACA[1], NC_000001.11:g.32128427AT[4]AC[2]A[1], NC_000001.11:g.32128427AT[5]ACA[1], NC_000001.11:g.32128427AT[5]AC[2]A[1], NC_000001.11:g.32128427AT[6]ACA[1], NC_000001.11:g.32128427AT[6]AC[2]A[1], NC_000001.11:g.32128427AT[7]ACA[1], NC_000001.11:g.32128427AT[8]ACA[1], NC_000001.11:g.32128427AT[8]AC[2]A[1], NC_000001.11:g.32128427AT[9]ACA[1], NC_000001.11:g.32128427AT[10]ACA[1], NC_000001.11:g.32128427AT[12]ACA[1], NC_000001.10:g.32594028_32594029insTACA, NC_000001.10:g.32594028_32594029insTACACA, NC_000001.10:g.32594028_32594029insTACACACACA, NC_000001.10:g.32594028_32594029insTACATACA, NC_000001.10:g.32594028AT[2]ACA[1], NC_000001.10:g.32594028AT[2]AC[2]A[1], NC_000001.10:g.32594028AT[2]AC[4]A[1], NC_000001.10:g.32594028AT[2]AC[5]A[1], NC_000001.10:g.32594028AT[3]ACA[1], NC_000001.10:g.32594028AT[3]AC[2]A[1], NC_000001.10:g.32594028AT[4]ACA[1], NC_000001.10:g.32594028AT[4]AC[2]A[1], NC_000001.10:g.32594028AT[5]ACA[1], NC_000001.10:g.32594028AT[5]AC[2]A[1], NC_000001.10:g.32594028AT[6]ACA[1], NC_000001.10:g.32594028AT[6]AC[2]A[1], NC_000001.10:g.32594028AT[7]ACA[1], NC_000001.10:g.32594028AT[8]ACA[1], NC_000001.10:g.32594028AT[8]AC[2]A[1], NC_000001.10:g.32594028AT[9]ACA[1], NC_000001.10:g.32594028AT[10]ACA[1], NC_000001.10:g.32594028AT[12]ACA[1]

Select item 149129741111.

rs1491297411 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:32160299 (GRCh38)
1:32625900 (GRCh37)
Canonical SPDI:: NC_000001.11:32160298:CA:
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.32160299_32160300del, NC_000001.10:g.32625900_32625901del

Select item 149129483512.

rs1491294835 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:32132116 (GRCh38)
1:32597717 (GRCh37)
Canonical SPDI:: NC_000001.11:32132114:TAT:T
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.32132116_32132117del, NC_000001.10:g.32597717_32597718del

Select item 149127104313.

rs1491271043 has merged into rs200239153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 1:32106665 (GRCh38)
1:32572266 (GRCh37)
Canonical SPDI:: NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:32106654:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: KPNA6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.0805/48 (NorthernSweden)
-=0.125/5 (GENOME_DK)
-=0.3123/1564 (1000Genomes)
HGVS:: NC_000001.11:g.32106665_32106668del, NC_000001.11:g.32106666_32106668del, NC_000001.11:g.32106667_32106668del, NC_000001.11:g.32106668del, NC_000001.11:g.32106668dup, NC_000001.11:g.32106667_32106668dup, NC_000001.11:g.32106666_32106668dup, NC_000001.11:g.32106664_32106668dup, NC_000001.11:g.32106663_32106668dup, NC_000001.10:g.32572266_32572269del, NC_000001.10:g.32572267_32572269del, NC_000001.10:g.32572268_32572269del, NC_000001.10:g.32572269del, NC_000001.10:g.32572269dup, NC_000001.10:g.32572268_32572269dup, NC_000001.10:g.32572267_32572269dup, NC_000001.10:g.32572265_32572269dup, NC_000001.10:g.32572264_32572269dup

Select item 149126296814.

rs1491262968 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATA [Show Flanks]
Chromosome:: 1:32128388 (GRCh38)
1:32593990 (GRCh37)
Canonical SPDI:: NC_000001.11:32128388:ATATA:ATATACATATA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATACATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.32128389_32128393AT[2]ACATATA[1], NC_000001.10:g.32593990_32593994AT[2]ACATATA[1]

Select item 149126064615.

rs1491260646 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:32132115 (GRCh38)
1:32597717 (GRCh37)
Canonical SPDI:: NC_000001.11:32132115:A:AA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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.32132116dup, NC_000001.10:g.32597717dup

Select item 149124350916.

rs1491243509 has merged into rs71006332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:32119044 (GRCh38)
1:32584645 (GRCh37)
Canonical SPDI:: NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119032:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KPNA6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.32119044_32119049del, NC_000001.11:g.32119046_32119049del, NC_000001.11:g.32119047_32119049del, NC_000001.11:g.32119048_32119049del, NC_000001.11:g.32119049del, NC_000001.11:g.32119049dup, NC_000001.11:g.32119048_32119049dup, NC_000001.11:g.32119047_32119049dup, NC_000001.11:g.32119046_32119049dup, NC_000001.11:g.32119045_32119049dup, NC_000001.11:g.32119044_32119049dup, NC_000001.11:g.32119043_32119049dup, NC_000001.11:g.32119042_32119049dup, NC_000001.11:g.32119041_32119049dup, NC_000001.11:g.32119040_32119049dup, NC_000001.11:g.32119039_32119049dup, NC_000001.11:g.32119038_32119049dup, NC_000001.11:g.32119037_32119049dup, NC_000001.11:g.32119036_32119049dup, NC_000001.11:g.32119035_32119049dup, NC_000001.11:g.32119034_32119049dup, NC_000001.11:g.32119049_32119050insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.32584645_32584650del, NC_000001.10:g.32584647_32584650del, NC_000001.10:g.32584648_32584650del, NC_000001.10:g.32584649_32584650del, NC_000001.10:g.32584650del, NC_000001.10:g.32584650dup, NC_000001.10:g.32584649_32584650dup, NC_000001.10:g.32584648_32584650dup, NC_000001.10:g.32584647_32584650dup, NC_000001.10:g.32584646_32584650dup, NC_000001.10:g.32584645_32584650dup, NC_000001.10:g.32584644_32584650dup, NC_000001.10:g.32584643_32584650dup, NC_000001.10:g.32584642_32584650dup, NC_000001.10:g.32584641_32584650dup, NC_000001.10:g.32584640_32584650dup, NC_000001.10:g.32584639_32584650dup, NC_000001.10:g.32584638_32584650dup, NC_000001.10:g.32584637_32584650dup, NC_000001.10:g.32584636_32584650dup, NC_000001.10:g.32584635_32584650dup, NC_000001.10:g.32584650_32584651insTTTTTTTTTTTTTTTTTT

Select item 149122798417.

rs1491227984 has merged into rs4012180 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:32119756 (GRCh38)
1:32585357 (GRCh37)
Canonical SPDI:: NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:32119743:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KPNA6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1122/562 (1000Genomes)
HGVS:: NC_000001.11:g.32119756_32119762del, NC_000001.11:g.32119759_32119762del, NC_000001.11:g.32119760_32119762del, NC_000001.11:g.32119761_32119762del, NC_000001.11:g.32119762del, NC_000001.11:g.32119762dup, NC_000001.11:g.32119757_32119762dup, NC_000001.11:g.32119749_32119762dup, NC_000001.10:g.32585357_32585363del, NC_000001.10:g.32585360_32585363del, NC_000001.10:g.32585361_32585363del, NC_000001.10:g.32585362_32585363del, NC_000001.10:g.32585363del, NC_000001.10:g.32585363dup, NC_000001.10:g.32585358_32585363dup, NC_000001.10:g.32585350_32585363dup

Select item 149121272718.

rs1491212727 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:32128386 (GRCh38)
1:32593988 (GRCh37)
Canonical SPDI:: NC_000001.11:32128386::A
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00004/1 (TOMMO)
A=0.00013/9 (GnomAD)
HGVS:: NC_000001.11:g.32128386_32128387insA, NC_000001.10:g.32593987_32593988insA

Select item 149120245819.

rs1491202458 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 1:32160299 (GRCh38)
1:32625901 (GRCh37)
Canonical SPDI:: NC_000001.11:32160299::CAA
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAA=0./0 (ALFA)
CAA=0.00006/4 (GnomAD)
HGVS:: NC_000001.11:g.32160299_32160300insCAA, NC_000001.10:g.32625900_32625901insCAA

Select item 149114938020.

rs1491149380 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:32119743 (GRCh38)
1:32585344 (GRCh37)
Canonical SPDI:: NC_000001.11:32119742:AT:
Gene:: KPNA6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000001.11:g.32119743_32119744del, NC_000001.10:g.32585344_32585345del

<< First< Prev

Page of 850

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 16986

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity