SNP Links for Gene (Select 2631) - SNP

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Items: 1 to 20 of 9508

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Select item 14915452601.

rs1491545260 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:55995219 (GRCh38)
7:56062912 (GRCh37)
Canonical SPDI:: NC_000007.14:55995218:AG:
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55995219_55995220del, NC_000007.13:g.56062912_56062913del

Select item 14914337372.

rs1491433737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAG [Show Flanks]
Chromosome:: 7:55974267 (GRCh38)
7:56041961 (GRCh37)
Canonical SPDI:: NC_000007.14:55974267:GAAAG:GAAAGGAAAG
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.55974268_55974272dup, NC_000007.13:g.56041961_56041965dup

Select item 14913696573.

rs1491369657 has merged into rs11464121 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:55996293 (GRCh38)
7:56063986 (GRCh37)
Canonical SPDI:: NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:55996285:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.55996293_55996301del, NC_000007.14:g.55996298_55996301del, NC_000007.14:g.55996299_55996301del, NC_000007.14:g.55996300_55996301del, NC_000007.14:g.55996301del, NC_000007.14:g.55996301dup, NC_000007.14:g.55996300_55996301dup, NC_000007.14:g.55996299_55996301dup, NC_000007.14:g.55996298_55996301dup, NC_000007.14:g.55996295_55996301dup, NC_000007.13:g.56063986_56063994del, NC_000007.13:g.56063991_56063994del, NC_000007.13:g.56063992_56063994del, NC_000007.13:g.56063993_56063994del, NC_000007.13:g.56063994del, NC_000007.13:g.56063994dup, NC_000007.13:g.56063993_56063994dup, NC_000007.13:g.56063992_56063994dup, NC_000007.13:g.56063991_56063994dup, NC_000007.13:g.56063988_56063994dup

Select item 14913416094.

rs1491341609 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:55989950 (GRCh38)
7:56057643 (GRCh37)
Canonical SPDI:: NC_000007.14:55989949:CA:
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000018/2 (GnomAD)
HGVS:: NC_000007.14:g.55989950_55989951del, NC_000007.13:g.56057643_56057644del

Select item 14913260615.

rs1491326061 has merged into rs34985300 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 7:55984731 (GRCh38)
7:56052424 (GRCh37)
Canonical SPDI:: NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:55984717:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2893/932 (1000Genomes)
HGVS:: NC_000007.14:g.55984731_55984735del, NC_000007.14:g.55984732_55984735del, NC_000007.14:g.55984733_55984735del, NC_000007.14:g.55984734_55984735del, NC_000007.14:g.55984735del, NC_000007.14:g.55984735dup, NC_000007.14:g.55984734_55984735dup, NC_000007.14:g.55984733_55984735dup, NC_000007.14:g.55984732_55984735dup, NC_000007.14:g.55984731_55984735dup, NC_000007.13:g.56052424_56052428del, NC_000007.13:g.56052425_56052428del, NC_000007.13:g.56052426_56052428del, NC_000007.13:g.56052427_56052428del, NC_000007.13:g.56052428del, NC_000007.13:g.56052428dup, NC_000007.13:g.56052427_56052428dup, NC_000007.13:g.56052426_56052428dup, NC_000007.13:g.56052425_56052428dup, NC_000007.13:g.56052424_56052428dup

Select item 14912490886.

rs1491249088 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:55995219 (GRCh38)
7:56062913 (GRCh37)
Canonical SPDI:: NC_000007.14:55995219:GGGG:GGGGG
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55995223dup, NC_000007.13:g.56062916dup

Select item 14912115777.

rs1491211577 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:55984717 (GRCh38)
7:56052410 (GRCh37)
Canonical SPDI:: NC_000007.14:55984716:CA:
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00059/7 (ALFA)
HGVS:: NC_000007.14:g.55984717_55984718del, NC_000007.13:g.56052410_56052411del

Select item 14912057298.

rs1491205729 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:55996286 (GRCh38)
7:56063980 (GRCh37)
Canonical SPDI:: NC_000007.14:55996286::G
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55996286_55996287insG, NC_000007.13:g.56063979_56063980insG

Select item 14911466599.

rs1491146659 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAAAGAAAGAAA [Show Flanks]
Chromosome:: 7:55974259 (GRCh38)
7:56041953 (GRCh37)
Canonical SPDI:: NC_000007.14:55974259:AAAAAAAAGAAAGAAA:AAAAAAAAGAAAGAAAAAAAAGAAAGAAA
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAGAAAGAAAAAAAAGAAAGAAA=0./0 (ALFA)
AAAAAAAAGAAAG=0.000004/1 (TOPMED)
AAAAAAAAGAAAG=0.000019/1 (GnomAD)
HGVS:: NC_000007.14:g.55974263_55974275dup, NC_000007.13:g.56041956_56041968dup

Select item 149111332510.

rs1491113325 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 7:55988948 (GRCh38)
7:56056641 (GRCh37)
Canonical SPDI:: NC_000007.14:55988947:TT:
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.55988948_55988949del, NC_000007.13:g.56056641_56056642del

Select item 149106671011.

rs1491066710 has merged into rs35890311 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:55982762 (GRCh38)
7:56050455 (GRCh37)
Canonical SPDI:: NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:55982751:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.26637/1334 (1000Genomes)
-=0.33503/197 (NorthernSweden)
-=0.35/14 (GENOME_DK)
HGVS:: NC_000007.14:g.55982762_55982767del, NC_000007.14:g.55982765_55982767del, NC_000007.14:g.55982766_55982767del, NC_000007.14:g.55982767del, NC_000007.14:g.55982767dup, NC_000007.14:g.55982766_55982767dup, NC_000007.14:g.55982760_55982767dup, NC_000007.13:g.56050455_56050460del, NC_000007.13:g.56050458_56050460del, NC_000007.13:g.56050459_56050460del, NC_000007.13:g.56050460del, NC_000007.13:g.56050460dup, NC_000007.13:g.56050459_56050460dup, NC_000007.13:g.56050453_56050460dup

Select item 149102734012.

rs1491027340 has merged into rs139960312 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:55972318 (GRCh38)
7:56040011 (GRCh37)
Canonical SPDI:: NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:55972308:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.2867/1436 (1000Genomes)
A=0.4209/1622 (ALSPAC)
A=0.425/1576 (TWINSUK)
A=0.45/18 (GENOME_DK)
A=0.4585/265 (NorthernSweden)
HGVS:: NC_000007.14:g.55972318_55972320del, NC_000007.14:g.55972319_55972320del, NC_000007.14:g.55972320del, NC_000007.14:g.55972320dup, NC_000007.14:g.55972319_55972320dup, NC_000007.14:g.55972318_55972320dup, NC_000007.14:g.55972312_55972320dup, NC_000007.13:g.56040011_56040013del, NC_000007.13:g.56040012_56040013del, NC_000007.13:g.56040013del, NC_000007.13:g.56040013dup, NC_000007.13:g.56040012_56040013dup, NC_000007.13:g.56040011_56040013dup, NC_000007.13:g.56040005_56040013dup

Select item 149099166113.

rs1490991661 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:55969719 (GRCh38)
7:56037412 (GRCh37)
Canonical SPDI:: NC_000007.14:55969718:C:G,NC_000007.14:55969718:C:T
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00071/12 (TOMMO)
G=0.00137/4 (KOREAN)
G=0.00218/4 (Korea1K)
HGVS:: NC_000007.14:g.55969719C>G, NC_000007.14:g.55969719C>T, NC_000007.13:g.56037412C>G, NC_000007.13:g.56037412C>T

Select item 149094069414.

rs1490940694 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:55968009 (GRCh38)
7:56035702 (GRCh37)
Canonical SPDI:: NC_000007.14:55968008:A:G
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55968009A>G, NC_000007.13:g.56035702A>G

Select item 149091181115.

rs1490911811 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:55989828 (GRCh38)
7:56057521 (GRCh37)
Canonical SPDI:: NC_000007.14:55989827:T:C
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55989828T>C, NC_000007.13:g.56057521T>C

Select item 149089617716.

rs1490896177 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:55990648 (GRCh38)
7:56058341 (GRCh37)
Canonical SPDI:: NC_000007.14:55990647:T:G
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.55990648T>G, NC_000007.13:g.56058341T>G

Select item 149080601817.

rs1490806018 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTCTCGGACTCCTGACCTCAGGTG>- [Show Flanks]
Chromosome:: 7:55963130 (GRCh38)
7:56030823 (GRCh37)
Canonical SPDI:: NC_000007.14:55963127:TGGTCTCGGACTCCTGACCTCAGGTG:TG
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.55963130_55963153del, NC_000007.13:g.56030823_56030846del

Select item 149079114918.

rs1490791149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:55976179 (GRCh38)
7:56043872 (GRCh37)
Canonical SPDI:: NC_000007.14:55976178:A:G
Gene:: NIPSNAP2 (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_000007.14:g.55976179A>G, NC_000007.13:g.56043872A>G

Select item 149071955019.

rs1490719550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:55984443 (GRCh38)
7:56052136 (GRCh37)
Canonical SPDI:: NC_000007.14:55984442:G:A,NC_000007.14:55984442:G:T
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.55984443G>A, NC_000007.14:g.55984443G>T, NC_000007.13:g.56052136G>A, NC_000007.13:g.56052136G>T

Select item 149067372520.

rs1490673725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:55983586 (GRCh38)
7:56051279 (GRCh37)
Canonical SPDI:: NC_000007.14:55983585:A:G
Gene:: NIPSNAP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.55983586A>G, NC_000007.13:g.56051279A>G

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