SNP Links for Gene (Select 101927478) - SNP

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Items: 1 to 20 of 1935

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Select item 14913562201.

rs1491356220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 1:229506447 (GRCh38)
1:229642195 (GRCh37)
Canonical SPDI:: NC_000001.11:229506447:T:TT,NC_000001.11:229506447:T:TTT
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.229506448dup, NC_000001.11:g.229506448_229506449insTT, NC_000001.10:g.229642195dup, NC_000001.10:g.229642195_229642196insTT, NG_011969.1:g.6894dup, NG_011969.1:g.6894_6895insAA

Select item 14909509412.

rs1490950941 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229510651 (GRCh38)
1:229646398 (GRCh37)
Canonical SPDI:: NC_000001.11:229510650:T:C
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000054/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000029/4 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.229510651T>C, NC_000001.10:g.229646398T>C, NG_011969.1:g.2691A>G

Select item 14908036423.

rs1490803642 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:229506875 (GRCh38)
1:229642622 (GRCh37)
Canonical SPDI:: NC_000001.11:229506874:C:A
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.229506875C>A, NC_000001.10:g.229642622C>A, NG_011969.1:g.6467G>T

Select item 14907162304.

rs1490716230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:229507974 (GRCh38)
1:229643721 (GRCh37)
Canonical SPDI:: NC_000001.11:229507973:C:G
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.229507974C>G, NC_000001.10:g.229643721C>G, NG_011969.1:g.5368G>C

Select item 14905198305.

rs1490519830 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229509101 (GRCh38)
1:229644848 (GRCh37)
Canonical SPDI:: NC_000001.11:229509100:T:C
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.004673/1 (Vietnamese)
HGVS:: NC_000001.11:g.229509101T>C, NC_000001.10:g.229644848T>C, NG_011969.1:g.4241A>G

Select item 14901266386.

rs1490126638 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:229511938 (GRCh38)
1:229647686 (GRCh37)
Canonical SPDI:: NC_000001.11:229511938:AAAAAA:AAAAAAA
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.000015/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.229511944dup, NC_000001.10:g.229647691dup, NG_011969.1:g.1403dup

Select item 14899620887.

rs1489962088 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:229512856 (GRCh38)
1:229648603 (GRCh37)
Canonical SPDI:: NC_000001.11:229512855:G:T
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.229512856G>T, NC_000001.10:g.229648603G>T, NG_011969.1:g.486C>A

Select item 14879556678.

rs1487955667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:229514422 (GRCh38)
1:229650169 (GRCh37)
Canonical SPDI:: NC_000001.11:229514421:C:T
Gene:: NUP133-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.229514422C>T, NC_000001.10:g.229650169C>T

Select item 14876199679.

rs1487619967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:229510411 (GRCh38)
1:229646158 (GRCh37)
Canonical SPDI:: NC_000001.11:229510410:A:C
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0./0 (GnomAD)
HGVS:: NC_000001.11:g.229510411A>C, NC_000001.10:g.229646158A>C, NG_011969.1:g.2931T>G

Select item 148708134310.

rs1487081343 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:229514519 (GRCh38)
1:229650266 (GRCh37)
Canonical SPDI:: NC_000001.11:229514518:G:T
Gene:: NUP133-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000038/10 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000001.11:g.229514519G>T, NC_000001.10:g.229650266G>T

Select item 148597809311.

rs1485978093 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229508744 (GRCh38)
1:229644491 (GRCh37)
Canonical SPDI:: NC_000001.11:229508743:T:C
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.229508744T>C, NC_000001.10:g.229644491T>C, NG_011969.1:g.4598A>G

Select item 148580904112.

rs1485809041 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:229511789 (GRCh38)
1:229647536 (GRCh37)
Canonical SPDI:: NC_000001.11:229511788:A:G
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.001092/2 (Korea1K)
HGVS:: NC_000001.11:g.229511789A>G, NC_000001.10:g.229647536A>G, NG_011969.1:g.1553T>C

Select item 148492623013.

rs1484926230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:229508031 (GRCh38)
1:229643778 (GRCh37)
Canonical SPDI:: NC_000001.11:229508030:C:T
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.229508031C>T, NC_000001.10:g.229643778C>T, NG_011969.1:g.5311G>A

Select item 148469904314.

rs1484699043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:229513500 (GRCh38)
1:229649247 (GRCh37)
Canonical SPDI:: NC_000001.11:229513499:A:T
Gene:: NUP133-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.229513500A>T, NC_000001.10:g.229649247A>T

Select item 148460587115.

rs1484605871 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:229512544 (GRCh38)
1:229648291 (GRCh37)
Canonical SPDI:: NC_000001.11:229512543:C:A
Gene:: NUP133-DT (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)
HGVS:: NC_000001.11:g.229512544C>A, NC_000001.10:g.229648291C>A, NG_011969.1:g.798G>T

Select item 148411682616.

rs1484116826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:229508977 (GRCh38)
1:229644724 (GRCh37)
Canonical SPDI:: NC_000001.11:229508976:T:A
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: intron_variant,2KB_upstream_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_000001.11:g.229508977T>A, NC_000001.10:g.229644724T>A, NG_011969.1:g.4365A>T

Select item 148356182417.

rs1483561824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:229507469 (GRCh38)
1:229643216 (GRCh37)
Canonical SPDI:: NC_000001.11:229507468:T:C
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.229507469T>C, NC_000001.10:g.229643216T>C, NG_011969.1:g.5873A>G

Select item 148353755518.

rs1483537555 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:229506452 (GRCh38)
1:229642199 (GRCh37)
Canonical SPDI:: NC_000001.11:229506451:T:G
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.229506452T>G, NC_000001.10:g.229642199T>G, NG_011969.1:g.6890A>C

Select item 148333401319.

rs1483334013 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 1:229508274 (GRCh38)
1:229644021 (GRCh37)
Canonical SPDI:: NC_000001.11:229508273:C:
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.229508274del, NC_000001.10:g.229644021del, NG_011969.1:g.5068del, NM_018230.3:c.-25del, NM_018230.2:c.-25del, XM_047424979.1:c.-25del

Select item 148274422120.

rs1482744221 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:229507096 (GRCh38)
1:229642843 (GRCh37)
Canonical SPDI:: NC_000001.11:229507095:A:G
Gene:: NUP133 (Varview), NUP133-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000001.11:g.229507096A>G, NC_000001.10:g.229642843A>G, NG_011969.1:g.6246T>C

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