SNP Links for Nucleotide (Select 133908609) - SNP

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Links from Nucleotide

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Select item 14908677821.

rs1490867782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 8:25423887 (GRCh38)
8:25281403 (GRCh37)
Canonical SPDI:: NC_000008.11:25423886:G:C,NC_000008.11:25423886:G:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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_000008.11:g.25423887G>C, NC_000008.11:g.25423887G>T, NC_000008.10:g.25281403G>C, NC_000008.10:g.25281403G>T, NG_016457.1:g.6154C>G, NG_016457.1:g.6154C>A, NM_000825.3:c.-545C>G, NM_000825.3:c.-545C>A

Select item 14901644292.

rs1490164429 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 8:25424011 (GRCh38)
8:25281528 (GRCh37)
Canonical SPDI:: NC_000008.11:25424011:T:TT
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.25424012dup, NC_000008.10:g.25281528dup, NG_016457.1:g.6029dup, NM_000825.3:c.-670dup

Select item 14896490083.

rs1489649008 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 8:25423265 (GRCh38)
8:25280781 (GRCh37)
Canonical SPDI:: NC_000008.11:25423264:GG:G
Gene:: GNRH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.25423266del, NC_000008.10:g.25280782del, NG_016457.1:g.6776del, NM_000825.3:c.78del, NM_001083111.2:c.66del, NM_001083111.1:c.66del, NP_000816.4:p.Ser27fs, NP_001076580.1:p.Ser23fs

Select item 14865021484.

rs1486502148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:25424028 (GRCh38)
8:25281544 (GRCh37)
Canonical SPDI:: NC_000008.11:25424027:C:G
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000008.11:g.25424028C>G, NC_000008.10:g.25281544C>G, NG_016457.1:g.6013G>C, NM_000825.3:c.-686G>C

Select item 14824594235.

rs1482459423 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:25424463 (GRCh38)
8:25281979 (GRCh37)
Canonical SPDI:: NC_000008.11:25424462:G:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_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.25424463G>T, NC_000008.10:g.25281979G>T, NG_016457.1:g.5578C>A, NM_000825.3:c.-1121C>A, NM_001083111.1:c.-264C>A

Select item 14792162396.

rs1479216239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:25423368 (GRCh38)
8:25280884 (GRCh37)
Canonical SPDI:: NC_000008.11:25423367:A:G
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,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_000008.11:g.25423368A>G, NC_000008.10:g.25280884A>G, NG_016457.1:g.6673T>C, NM_000825.3:c.-26T>C

Select item 14782445517.

rs1478244551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:25424079 (GRCh38)
8:25281595 (GRCh37)
Canonical SPDI:: NC_000008.11:25424078:A:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.25424079A>T, NC_000008.10:g.25281595A>T, NG_016457.1:g.5962T>A, NM_000825.3:c.-737T>A

Select item 14767667608.

rs1476766760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:25424783 (GRCh38)
8:25282299 (GRCh37)
Canonical SPDI:: NC_000008.11:25424782:G:A
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.25424783G>A, NC_000008.10:g.25282299G>A, NG_016457.1:g.5258C>T, NM_000825.3:c.-1441C>T, NM_001083111.1:c.-584C>T

Select item 14753346229.

rs1475334622 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:25424749 (GRCh38)
8:25282265 (GRCh37)
Canonical SPDI:: NC_000008.11:25424748:C:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.25424749C>T, NC_000008.10:g.25282265C>T, NG_016457.1:g.5292G>A, NM_000825.3:c.-1407G>A, NM_001083111.1:c.-550G>A

Select item 147209778510.

rs1472097785 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CC [Show Flanks]
Chromosome:: 8:25423252 (GRCh38)
8:25280769 (GRCh37)
Canonical SPDI:: NC_000008.11:25423252:CC:CCCC
Gene:: GNRH1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCC=0./0 (ALFA)
CC=0.000004/1 (TOPMED)
CC=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.25423253_25423254dup, NC_000008.10:g.25280769_25280770dup, NG_016457.1:g.6787_6788dup, NM_000825.3:c.89_90dup, NM_001083111.2:c.77_78dup, NM_001083111.1:c.77_78dup, NP_000816.4:p.Ser31fs, NP_001076580.1:p.Ser27fs

Select item 147202680511.

rs1472026805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:25424660 (GRCh38)
8:25282176 (GRCh37)
Canonical SPDI:: NC_000008.11:25424659:G:C
Gene:: GNRH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_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_000008.11:g.25424660G>C, NC_000008.10:g.25282176G>C, NG_016457.1:g.5381C>G, NM_000825.3:c.-1318C>G, NM_001083111.1:c.-461C>G

Select item 147140395412.

rs1471403954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:25423241 (GRCh38)
8:25280757 (GRCh37)
Canonical SPDI:: NC_000008.11:25423240:C:T
Gene:: GNRH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.25423241C>T, NC_000008.10:g.25280757C>T, NG_016457.1:g.6800G>A, NM_000825.3:c.102G>A, NM_001083111.2:c.90G>A, NM_001083111.1:c.90G>A

Select item 147111269913.

rs1471112699 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:25424147 (GRCh38)
8:25281663 (GRCh37)
Canonical SPDI:: NC_000008.11:25424146:G:A,NC_000008.11:25424146:G:C
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.25424147G>A, NC_000008.11:g.25424147G>C, NC_000008.10:g.25281663G>A, NC_000008.10:g.25281663G>C, NG_016457.1:g.5894C>T, NG_016457.1:g.5894C>G, NM_000825.3:c.-805C>T, NM_000825.3:c.-805C>G

Select item 147049270914.

rs1470492709 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:25423342 (GRCh38)
8:25280858 (GRCh37)
Canonical SPDI:: NC_000008.11:25423341:T:C
Gene:: GNRH1 (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant,intron_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_000008.11:g.25423342T>C, NC_000008.10:g.25280858T>C, NG_016457.1:g.6699A>G, NM_000825.3:c.1A>G, NP_000816.4:p.Met1Val

Select item 146649786115.

rs1466497861 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:25424800 (GRCh38)
8:25282316 (GRCh37)
Canonical SPDI:: NC_000008.11:25424799:C:T
Gene:: GNRH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000071/10 (GnomAD)
T=0.000098/26 (TOPMED)
HGVS:: NC_000008.11:g.25424800C>T, NC_000008.10:g.25282316C>T, NG_016457.1:g.5241G>A, NM_000825.3:c.-1458G>A, NM_001083111.1:c.-601G>A

Select item 146479269716.

rs1464792697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:25424172 (GRCh38)
8:25281688 (GRCh37)
Canonical SPDI:: NC_000008.11:25424171:C:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000008.11:g.25424172C>T, NC_000008.10:g.25281688C>T, NG_016457.1:g.5869G>A, NM_000825.3:c.-830G>A

Select item 146196890817.

rs1461968908 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 8:25424827 (GRCh38)
8:25282343 (GRCh37)
Canonical SPDI:: NC_000008.11:25424826:G:A,NC_000008.11:25424826:G:T
Gene:: GNRH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.25424827G>A, NC_000008.11:g.25424827G>T, NC_000008.10:g.25282343G>A, NC_000008.10:g.25282343G>T, NG_016457.1:g.5214C>T, NG_016457.1:g.5214C>A, NM_000825.3:c.-1485C>T, NM_000825.3:c.-1485C>A, NM_001083111.1:c.-628C>T, NM_001083111.1:c.-628C>A

Select item 146166176618.

rs1461661766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:25423532 (GRCh38)
8:25281048 (GRCh37)
Canonical SPDI:: NC_000008.11:25423531:G:A,NC_000008.11:25423531:G:C
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000008.11:g.25423532G>A, NC_000008.11:g.25423532G>C, NC_000008.10:g.25281048G>A, NC_000008.10:g.25281048G>C, NG_016457.1:g.6509C>T, NG_016457.1:g.6509C>G, NM_000825.3:c.-190C>T, NM_000825.3:c.-190C>G

Select item 145894635819.

rs1458946358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:25424668 (GRCh38)
8:25282184 (GRCh37)
Canonical SPDI:: NC_000008.11:25424667:G:A
Gene:: GNRH1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000053/14 (TOPMED)
A=0.000064/9 (GnomAD)
A=0.000156/1 (1000Genomes)
A=0.001062/18 (TOMMO)
A=0.001092/2 (Korea1K)
A=0.002396/7 (KOREAN)
HGVS:: NC_000008.11:g.25424668G>A, NC_000008.10:g.25282184G>A, NG_016457.1:g.5373C>T, NM_000825.3:c.-1326C>T, NM_001083111.1:c.-469C>T

Select item 145643693420.

rs1456436934 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:25424761 (GRCh38)
8:25282277 (GRCh37)
Canonical SPDI:: NC_000008.11:25424760:A:T
Gene:: GNRH1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.25424761A>T, NC_000008.10:g.25282277A>T, NG_016457.1:g.5280T>A, NM_000825.3:c.-1419T>A, NM_001083111.1:c.-562T>A

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