SNP Links for Nucleotide (Select 343780921) - SNP

Links from Nucleotide

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Select item 14915710041.

rs1491571004 has merged into rs61530350 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACA>-,CA,CACA,CACACA,CACACACACA [Show Flanks]
Chromosome:: 16:83950480 (GRCh38)
16:83984085 (GRCh37)
Canonical SPDI:: NC_000016.10:83950478:ACACACACA:A,NC_000016.10:83950478:ACACACACA:ACA,NC_000016.10:83950478:ACACACACA:ACACA,NC_000016.10:83950478:ACACACACA:ACACACA,NC_000016.10:83950478:ACACACACA:ACACACACACA
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000016.10:g.83950480_83950487del, NC_000016.10:g.83950480CA[1], NC_000016.10:g.83950480CA[2], NC_000016.10:g.83950480CA[3], NC_000016.10:g.83950480CA[5], NC_000016.9:g.83984085_83984092del, NC_000016.9:g.83984085CA[1], NC_000016.9:g.83984085CA[2], NC_000016.9:g.83984085CA[3], NC_000016.9:g.83984085CA[5], NG_029757.1:g.2259_2266del, NG_029757.1:g.2259CA[1], NG_029757.1:g.2259CA[2], NG_029757.1:g.2259CA[3], NG_029757.1:g.2259CA[5]

Select item 14913997472.

rs1491399747 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATTTA,ATTTATTTA,ATTTATTTATTTA,ATTTTTTATTTATTTA [Show Flanks]
Chromosome:: 16:83957859 (GRCh38)
16:83991465 (GRCh37)
Canonical SPDI:: NC_000016.10:83957859::A,NC_000016.10:83957859::ATTTA,NC_000016.10:83957859::ATTTATTTA,NC_000016.10:83957859::ATTTATTTATTTA,NC_000016.10:83957859::ATTTTTTATTTATTTA
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATTTATTTA=0./0 (ALFA)
A=0.00028/5 (TOMMO)
HGVS:: NC_000016.10:g.83957859_83957860insA, NC_000016.10:g.83957859_83957860insATTTA, NC_000016.10:g.83957859_83957860insATTTATTTA, NC_000016.10:g.83957859_83957860insATTTATTTATTTA, NC_000016.10:g.83957859_83957860insATTTTTTATTTATTTA, NC_000016.9:g.83991464_83991465insA, NC_000016.9:g.83991464_83991465insATTTA, NC_000016.9:g.83991464_83991465insATTTATTTA, NC_000016.9:g.83991464_83991465insATTTATTTATTTA, NC_000016.9:g.83991464_83991465insATTTTTTATTTATTTA, NG_029757.1:g.9638_9639insA, NG_029757.1:g.9638_9639insATTTA, NG_029757.1:g.9638_9639insATTTATTTA, NG_029757.1:g.9638_9639insATTTATTTATTTA, NG_029757.1:g.9638_9639insATTTTTTATTTATTTA

Select item 14911440213.

rs1491144021 [Homo sapiens]

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

Select item 14910043674.

rs1491004367 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83952956 (GRCh38)
16:83986561 (GRCh37)
Canonical SPDI:: NC_000016.10:83952955:G:A
Gene:: OSGIN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000016.10:g.83952956G>A, NC_000016.9:g.83986561G>A, NG_029757.1:g.4735G>A

Select item 14909785665.

rs1490978566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83962680 (GRCh38)
16:83996285 (GRCh37)
Canonical SPDI:: NC_000016.10:83962679:A:G
Gene:: OSGIN1 (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_000016.10:g.83962680A>G, NC_000016.9:g.83996285A>G, NG_029757.1:g.14459A>G

Select item 14909584396.

rs1490958439 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:83961327 (GRCh38)
16:83994932 (GRCh37)
Canonical SPDI:: NC_000016.10:83961326:C:G
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83961327C>G, NC_000016.9:g.83994932C>G, NG_029757.1:g.13106C>G

Select item 14906753817.

rs1490675381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:83950334 (GRCh38)
16:83983939 (GRCh37)
Canonical SPDI:: NC_000016.10:83950333:T:C,NC_000016.10:83950333:T:G
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.83950334T>C, NC_000016.10:g.83950334T>G, NC_000016.9:g.83983939T>C, NC_000016.9:g.83983939T>G, NG_029757.1:g.2113T>C, NG_029757.1:g.2113T>G

Select item 14903612298.

rs1490361229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83967545 (GRCh38)
16:84001150 (GRCh37)
Canonical SPDI:: NC_000016.10:83967544:A:G
Gene:: NECAB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
A=0./0 (SGDP_PRJ)
HGVS:: NC_000016.10:g.83967545A>G, NC_000016.9:g.84001150A>G, NG_029757.1:g.19324A>G

Select item 14902832459.

rs1490283245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:83950018 (GRCh38)
16:83983623 (GRCh37)
Canonical SPDI:: NC_000016.10:83950017:C:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83950018C>A, NC_000016.9:g.83983623C>A, NG_029757.1:g.1797C>A

Select item 149026495210.

rs1490264952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:83963484 (GRCh38)
16:83997089 (GRCh37)
Canonical SPDI:: NC_000016.10:83963483:C:G
Gene:: OSGIN1 (Varview), NECAB2 (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_000016.10:g.83963484C>G, NC_000016.9:g.83997089C>G, NG_029757.1:g.15263C>G

Select item 149001248311.

rs1490012483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83968262 (GRCh38)
16:84001867 (GRCh37)
Canonical SPDI:: NC_000016.10:83968261:G:A
Gene:: NECAB2 (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83968262G>A, NC_000016.9:g.84001867G>A, NG_029757.1:g.20041G>A, NM_019065.3:c.-387G>A

Select item 148998665212.

rs1489986652 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:83968204 (GRCh38)
16:84001809 (GRCh37)
Canonical SPDI:: NC_000016.10:83968203:C:T
Gene:: NECAB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83968204C>T, NC_000016.9:g.84001809C>T, NG_029757.1:g.19983C>T

Select item 148998115513.

rs1489981155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:83959978 (GRCh38)
16:83993583 (GRCh37)
Canonical SPDI:: NC_000016.10:83959977:C:A
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83959978C>A, NC_000016.9:g.83993583C>A, NG_029757.1:g.11757C>A

Select item 148992392314.

rs1489923923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:83958333 (GRCh38)
16:83991938 (GRCh37)
Canonical SPDI:: NC_000016.10:83958332:G:A,NC_000016.10:83958332:G:C
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
C=0.000312/2 (1000Genomes)
HGVS:: NC_000016.10:g.83958333G>A, NC_000016.10:g.83958333G>C, NC_000016.9:g.83991938G>A, NC_000016.9:g.83991938G>C, NG_029757.1:g.10112G>A, NG_029757.1:g.10112G>C

Select item 148989136615.

rs1489891366 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:83958143 (GRCh38)
16:83991748 (GRCh37)
Canonical SPDI:: NC_000016.10:83958142:C:G
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83958143C>G, NC_000016.9:g.83991748C>G, NG_029757.1:g.9922C>G

Select item 148987408116.

rs1489874081 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:83967751 (GRCh38)
16:84001356 (GRCh37)
Canonical SPDI:: NC_000016.10:83967750:G:A
Gene:: NECAB2 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000169/2 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.83967751G>A, NC_000016.9:g.84001356G>A, NG_029757.1:g.19530G>A

Select item 148962586517.

rs1489625865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83952583 (GRCh38)
16:83986188 (GRCh37)
Canonical SPDI:: NC_000016.10:83952582:A:G
Gene:: OSGIN1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83952583A>G, NC_000016.9:g.83986188A>G, NG_029757.1:g.4362A>G

Select item 148960033118.

rs1489600331 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83960653 (GRCh38)
16:83994258 (GRCh37)
Canonical SPDI:: NC_000016.10:83960652:A:G
Gene:: OSGIN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.83960653A>G, NC_000016.9:g.83994258A>G, NG_029757.1:g.12432A>G, NM_182981.3:c.289A>G, NM_182981.2:c.289A>G, NM_013370.3:c.538A>G, NM_182980.2:c.289A>G, NM_013370.2:c.538A>G, NM_182980.1:c.289A>G, NM_013370.1:c.-18A>G, NP_892026.1:p.Thr97Ala

Select item 148958945119.

rs1489589451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:83959775 (GRCh38)
16:83993380 (GRCh37)
Canonical SPDI:: NC_000016.10:83959774:G:C
Gene:: OSGIN1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.83959775G>C, NC_000016.9:g.83993380G>C, NG_029757.1:g.11554G>C

Select item 148954969520.

rs1489549695 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:83966055 (GRCh38)
16:83999660 (GRCh37)
Canonical SPDI:: NC_000016.10:83966054:A:G
Gene:: OSGIN1 (Varview), NECAB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.83966055A>G, NC_000016.9:g.83999660A>G, NG_029757.1:g.17834A>G, NM_182981.3:c.*48A>G, NM_182981.2:c.*48A>G, NM_013370.3:c.*48A>G, NM_182980.2:c.*48A>G, NM_013370.2:c.*48A>G, NM_182980.1:c.*48A>G, NM_013370.1:c.*218A>G

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