SNP Links for Gene (Select 10361) - SNP

Links from Gene

Items: 1 to 20 of 4141

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Select item 14911148881.

rs1491114888 has merged into rs71204531 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 8:22035944 (GRCh38)
8:21893455 (GRCh37)
Canonical SPDI:: NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22035932:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.01277/7 (NorthernSweden)
HGVS:: NC_000008.11:g.22035944_22035948del, NC_000008.11:g.22035946_22035948del, NC_000008.11:g.22035947_22035948del, NC_000008.11:g.22035948del, NC_000008.11:g.22035948dup, NC_000008.11:g.22035947_22035948dup, NC_000008.10:g.21893455_21893459del, NC_000008.10:g.21893457_21893459del, NC_000008.10:g.21893458_21893459del, NC_000008.10:g.21893459del, NC_000008.10:g.21893459dup, NC_000008.10:g.21893458_21893459dup

Select item 14910676882.

rs1491067688 has merged into rs542386619 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 8:22027615 (GRCh38)
8:21885126 (GRCh37)
Canonical SPDI:: NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22027603:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.03833/23 (NorthernSweden)
HGVS:: NC_000008.11:g.22027615_22027618del, NC_000008.11:g.22027616_22027618del, NC_000008.11:g.22027617_22027618del, NC_000008.11:g.22027618del, NC_000008.11:g.22027618dup, NC_000008.11:g.22027617_22027618dup, NC_000008.10:g.21885126_21885129del, NC_000008.10:g.21885127_21885129del, NC_000008.10:g.21885128_21885129del, NC_000008.10:g.21885129del, NC_000008.10:g.21885129dup, NC_000008.10:g.21885128_21885129dup

Select item 14905648033.

rs1490564803 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22023138 (GRCh38)
8:21880649 (GRCh37)
Canonical SPDI:: NC_000008.11:22023137:T:C
Gene:: NPM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.22023138T>C, NC_000008.10:g.21880649T>C

Select item 14905271444.

rs1490527144 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 8:22036320 (GRCh38)
8:21893832 (GRCh37)
Canonical SPDI:: NC_000008.11:22036320:TAT:TATAT
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAT=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
TA=0.000014/2 (GnomAD)
TA=0.009346/2 (Vietnamese)
HGVS:: NC_000008.11:g.22036322_22036323dup, NC_000008.10:g.21893833_21893834dup

Select item 14905131295.

rs1490513129 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22029954 (GRCh38)
8:21887465 (GRCh37)
Canonical SPDI:: NC_000008.11:22029953:T:C
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.22029954T>C, NC_000008.10:g.21887465T>C

Select item 14904362236.

rs1490436223 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22029868 (GRCh38)
8:21887379 (GRCh37)
Canonical SPDI:: NC_000008.11:22029867:G:T
Gene:: NPM2 (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_000008.11:g.22029868G>T, NC_000008.10:g.21887379G>T

Select item 14903363937.

rs1490336393 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:22031775 (GRCh38)
8:21889286 (GRCh37)
Canonical SPDI:: NC_000008.11:22031774:T:A
Gene:: NPM2 (Varview), LOC124902091 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000008.11:g.22031775T>A, NC_000008.10:g.21889286T>A

Select item 14901972128.

rs1490197212 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:22035336 (GRCh38)
8:21892847 (GRCh37)
Canonical SPDI:: NC_000008.11:22035335:C:A
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22035336C>A, NC_000008.10:g.21892847C>A

Select item 14901663669.

rs1490166366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:22029040 (GRCh38)
8:21886551 (GRCh37)
Canonical SPDI:: NC_000008.11:22029039:G:A,NC_000008.11:22029039:G:C
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.22029040G>A, NC_000008.11:g.22029040G>C, NC_000008.10:g.21886551G>A, NC_000008.10:g.21886551G>C

Select item 149006047710.

rs1490060477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22033952 (GRCh38)
8:21891463 (GRCh37)
Canonical SPDI:: NC_000008.11:22033951:C:T
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.22033952C>T, NC_000008.10:g.21891463C>T

Select item 148994380211.

rs1489943802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22022114 (GRCh38)
8:21879625 (GRCh37)
Canonical SPDI:: NC_000008.11:22022113:G:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000008.11:g.22022114G>A, NC_000008.10:g.21879625G>A

Select item 148970290012.

rs1489702900 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 8:22022794 (GRCh38)
8:21880305 (GRCh37)
Canonical SPDI:: NC_000008.11:22022793:G:A,NC_000008.11:22022793:G:C,NC_000008.11:22022793:G:T
Gene:: NPM2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.22022794G>A, NC_000008.11:g.22022794G>C, NC_000008.11:g.22022794G>T, NC_000008.10:g.21880305G>A, NC_000008.10:g.21880305G>C, NC_000008.10:g.21880305G>T

Select item 148958854213.

rs1489588542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:22026754 (GRCh38)
8:21884266 (GRCh37)
Canonical SPDI:: NC_000008.11:22026754:TTTTTT:TTTTTTT
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22026760dup, NC_000008.10:g.21884271dup

Select item 148928897814.

rs1489288978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:22024783 (GRCh38)
8:21882294 (GRCh37)
Canonical SPDI:: NC_000008.11:22024782:G:C
Gene:: NPM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22024783G>C, NC_000008.10:g.21882294G>C, NM_001286680.2:c.-81G>C, NM_001286680.1:c.-81G>C

Select item 148911699715.

rs1489116997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:22030837 (GRCh38)
8:21888348 (GRCh37)
Canonical SPDI:: NC_000008.11:22030836:C:A
Gene:: NPM2 (Varview), LOC124902091 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22030837C>A, NC_000008.10:g.21888348C>A

Select item 148860047316.

rs1488600473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22028240 (GRCh38)
8:21885751 (GRCh37)
Canonical SPDI:: NC_000008.11:22028239:G:A
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.22028240G>A, NC_000008.10:g.21885751G>A

Select item 148849892417.

rs1488498924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:22027998 (GRCh38)
8:21885509 (GRCh37)
Canonical SPDI:: NC_000008.11:22027997:A:G,NC_000008.11:22027997:A:T
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22027998A>G, NC_000008.11:g.22027998A>T, NC_000008.10:g.21885509A>G, NC_000008.10:g.21885509A>T

Select item 148794046318.

rs1487940463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22034941 (GRCh38)
8:21892452 (GRCh37)
Canonical SPDI:: NC_000008.11:22034940:C:T
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22034941C>T, NC_000008.10:g.21892452C>T

Select item 148771837819.

rs1487718378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:22034859 (GRCh38)
8:21892370 (GRCh37)
Canonical SPDI:: NC_000008.11:22034858:G:A
Gene:: NPM2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.22034859G>A, NC_000008.10:g.21892370G>A

Select item 148764781220.

rs1487647812 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCCT>- [Show Flanks]
Chromosome:: 8:22024395 (GRCh38)
8:21881906 (GRCh37)
Canonical SPDI:: NC_000008.11:22024391:CCTTCCT:CCT
Gene:: NPM2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22024395_22024398del, NC_000008.10:g.21881906_21881909del, NM_001286680.2:c.-369_-366del, NM_001286680.1:c.-369_-366del

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