SNP Links for Gene (Select 23742) - SNP

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Select item 14913979431.

rs1491397943 has merged into rs773691299 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGTGT [Show Flanks]
Chromosome:: 15:24679987 (GRCh38)
15:24925134 (GRCh37)
Canonical SPDI:: NC_000015.10:24679985:TGT:T,NC_000015.10:24679985:TGT:TGTGTGT
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.24679987_24679988del, NC_000015.10:g.24679987GT[3], NC_000015.9:g.24925134_24925135del, NC_000015.9:g.24925134GT[3], NG_021413.1:g.9594_9595del, NG_021413.1:g.9594GT[3], NM_018958.3:c.*649_*650del, NM_018958.3:c.*649GT[3], NM_018958.2:c.*649_*650del, NM_018958.2:c.*649GT[3]

Select item 14904117292.

rs1490411729 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:24675767 (GRCh38)
15:24920914 (GRCh37)
Canonical SPDI:: NC_000015.10:24675766:A:G
Gene:: NPAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.24675767A>G, NC_000015.9:g.24920914A>G, NG_021413.1:g.5374A>G, NM_018958.2:c.-101A>G

Select item 14902297263.

rs1490229726 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:24683467 (GRCh38)
15:24928614 (GRCh37)
Canonical SPDI:: NC_000015.10:24683466:A:G
Gene:: NPAP1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.24683467A>G, NC_000015.9:g.24928614A>G, NG_021413.1:g.13074A>G

Select item 14902142174.

rs1490214217 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>C
Chromosome:: no mapping
Canonical SPDI:

Select item 14899232855.

rs1489923285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:24676105 (GRCh38)
15:24921252 (GRCh37)
Canonical SPDI:: NC_000015.10:24676104:G:A,NC_000015.10:24676104:G:C
Gene:: NPAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000015.10:g.24676105G>A, NC_000015.10:g.24676105G>C, NC_000015.9:g.24921252G>A, NC_000015.9:g.24921252G>C, NG_021413.1:g.5712G>A, NG_021413.1:g.5712G>C, NM_018958.3:c.238G>A, NM_018958.3:c.238G>C, NM_018958.2:c.238G>A, NM_018958.2:c.238G>C, NP_061831.2:p.Ala80Thr, NP_061831.2:p.Ala80Pro

Select item 14897148296.

rs1489714829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:24678785 (GRCh38)
15:24923932 (GRCh37)
Canonical SPDI:: NC_000015.10:24678784:C:A,NC_000015.10:24678784:C:G,NC_000015.10:24678784:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.24678785C>A, NC_000015.10:g.24678785C>G, NC_000015.10:g.24678785C>T, NC_000015.9:g.24923932C>A, NC_000015.9:g.24923932C>G, NC_000015.9:g.24923932C>T, NG_021413.1:g.8392C>A, NG_021413.1:g.8392C>G, NG_021413.1:g.8392C>T, NM_018958.3:c.2918C>A, NM_018958.3:c.2918C>G, NM_018958.3:c.2918C>T, NM_018958.2:c.2918C>A, NM_018958.2:c.2918C>G, NM_018958.2:c.2918C>T, NP_061831.2:p.Pro973His, NP_061831.2:p.Pro973Arg, NP_061831.2:p.Pro973Leu

Select item 14893888077.

rs1489388807 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:24679210 (GRCh38)
15:24924357 (GRCh37)
Canonical SPDI:: NC_000015.10:24679209:T:A,NC_000015.10:24679209:T:C,NC_000015.10:24679209:T:G
Gene:: NPAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.24679210T>A, NC_000015.10:g.24679210T>C, NC_000015.10:g.24679210T>G, NC_000015.9:g.24924357T>A, NC_000015.9:g.24924357T>C, NC_000015.9:g.24924357T>G, NG_021413.1:g.8817T>A, NG_021413.1:g.8817T>C, NG_021413.1:g.8817T>G, NM_018958.3:c.3343T>A, NM_018958.3:c.3343T>C, NM_018958.3:c.3343T>G, NM_018958.2:c.3343T>A, NM_018958.2:c.3343T>C, NM_018958.2:c.3343T>G, NP_061831.2:p.Cys1115Ser, NP_061831.2:p.Cys1115Arg, NP_061831.2:p.Cys1115Gly

Select item 14892890128.

rs1489289012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:24682441 (GRCh38)
15:24927588 (GRCh37)
Canonical SPDI:: NC_000015.10:24682440:A:G
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.24682441A>G, NC_000015.9:g.24927588A>G, NG_021413.1:g.12048A>G, NM_018958.3:c.*3103A>G, NM_018958.2:c.*3103A>G

Select item 14887780459.

rs1488778045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:24677474 (GRCh38)
15:24922621 (GRCh37)
Canonical SPDI:: NC_000015.10:24677473:C:G,NC_000015.10:24677473:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.24677474C>G, NC_000015.10:g.24677474C>T, NC_000015.9:g.24922621C>G, NC_000015.9:g.24922621C>T, NG_021413.1:g.7081C>G, NG_021413.1:g.7081C>T, NM_018958.3:c.1607C>G, NM_018958.3:c.1607C>T, NM_018958.2:c.1607C>G, NM_018958.2:c.1607C>T, NP_061831.2:p.Pro536Arg, NP_061831.2:p.Pro536Leu

Select item 148868916810.

rs1488689168 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:24673502 (GRCh38)
15:24918649 (GRCh37)
Canonical SPDI:: NC_000015.10:24673501:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.24673502T>C, NC_000015.9:g.24918649T>C, NG_021413.1:g.3109T>C

Select item 148860408111.

rs1488604081 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:24681583 (GRCh38)
15:24926730 (GRCh37)
Canonical SPDI:: NC_000015.10:24681582:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.24681583C>T, NC_000015.9:g.24926730C>T, NG_021413.1:g.11190C>T, NM_018958.3:c.*2245C>T, NM_018958.2:c.*2245C>T

Select item 148857179512.

rs1488571795 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 15:24676876 (GRCh38)
15:24922023 (GRCh37)
Canonical SPDI:: NC_000015.10:24676875:C:A,NC_000015.10:24676875:C:G,NC_000015.10:24676875:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.24676876C>A, NC_000015.10:g.24676876C>G, NC_000015.10:g.24676876C>T, NC_000015.9:g.24922023C>A, NC_000015.9:g.24922023C>G, NC_000015.9:g.24922023C>T, NG_021413.1:g.6483C>A, NG_021413.1:g.6483C>G, NG_021413.1:g.6483C>T, NM_018958.3:c.1009C>A, NM_018958.3:c.1009C>G, NM_018958.3:c.1009C>T, NM_018958.2:c.1009C>A, NM_018958.2:c.1009C>G, NM_018958.2:c.1009C>T, NP_061831.2:p.Pro337Thr, NP_061831.2:p.Pro337Ala, NP_061831.2:p.Pro337Ser

Select item 148795353713.

rs1487953537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:24682341 (GRCh38)
15:24927488 (GRCh37)
Canonical SPDI:: NC_000015.10:24682340:C:A
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000015.10:g.24682341C>A, NC_000015.9:g.24927488C>A, NG_021413.1:g.11948C>A, NM_018958.3:c.*3003C>A, NM_018958.2:c.*3003C>A

Select item 148790954814.

rs1487909548 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:24675599 (GRCh38)
15:24920746 (GRCh37)
Canonical SPDI:: NC_000015.10:24675598:T:C
Gene:: NPAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.24675599T>C, NC_000015.9:g.24920746T>C, NG_021413.1:g.5206T>C, NM_018958.2:c.-269T>C

Select item 148753783815.

rs1487537838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:24674405 (GRCh38)
15:24919552 (GRCh37)
Canonical SPDI:: NC_000015.10:24674404:C:A
Gene:: NPAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.24674405C>A, NC_000015.9:g.24919552C>A, NG_021413.1:g.4012C>A

Select item 148703434016.

rs1487034340 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:24682832 (GRCh38)
15:24927979 (GRCh37)
Canonical SPDI:: NC_000015.10:24682831:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.24682832C>T, NC_000015.9:g.24927979C>T, NG_021413.1:g.12439C>T, NM_018958.3:c.*3494C>T, NM_018958.2:c.*3494C>T

Select item 148692989017.

rs1486929890 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:24674639 (GRCh38)
15:24919786 (GRCh37)
Canonical SPDI:: NC_000015.10:24674638:A:G
Gene:: NPAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.24674639A>G, NC_000015.9:g.24919786A>G, NG_021413.1:g.4246A>G

Select item 148643564318.

rs1486435643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:24675494 (GRCh38)
15:24920641 (GRCh37)
Canonical SPDI:: NC_000015.10:24675493:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.24675494C>T, NC_000015.9:g.24920641C>T, NG_021413.1:g.5101C>T, NM_018958.2:c.-374C>T

Select item 148630653119.

rs1486306531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:24680118 (GRCh38)
15:24925265 (GRCh37)
Canonical SPDI:: NC_000015.10:24680117:C:T
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.24680118C>T, NC_000015.9:g.24925265C>T, NG_021413.1:g.9725C>T, NM_018958.3:c.*780C>T, NM_018958.2:c.*780C>T

Select item 148601578020.

rs1486015780 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTGGTGCA>- [Show Flanks]
Chromosome:: 15:24679552 (GRCh38)
15:24924699 (GRCh37)
Canonical SPDI:: NC_000015.10:24679549:CAGGTGGTGCA:CA
Gene:: NPAP1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.24679552_24679560del, NC_000015.9:g.24924699_24924707del, NG_021413.1:g.9159_9167del, NM_018958.3:c.*214_*222del, NM_018958.2:c.*214_*222del

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