SNP Links for Nucleotide (Select 193082968) - SNP

Links from Nucleotide

Items: 1 to 20 of 6004

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Select item 14907491531.

rs1490749153 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 9:136690865 (GRCh38)
9:139585317 (GRCh37)
Canonical SPDI:: NC_000009.12:136690864:C:A,NC_000009.12:136690864:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.136690865C>A, NC_000009.12:g.136690865C>G, NC_000009.11:g.139585317C>A, NC_000009.11:g.139585317C>G, NG_008090.1:g.1595G>T, NG_008090.1:g.1595G>C

Select item 14906771282.

rs1490677128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136678423 (GRCh38)
9:139572875 (GRCh37)
Canonical SPDI:: NC_000009.12:136678422:G:A
Gene:: AGPAT2 (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_000009.12:g.136678423G>A, NC_000009.11:g.139572875G>A, NG_008090.1:g.14037C>T

Select item 14903481913.

rs1490348191 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:136684546 (GRCh38)
9:139578998 (GRCh37)
Canonical SPDI:: NC_000009.12:136684545:T:C
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136684546T>C, NC_000009.11:g.139578998T>C, NG_008090.1:g.7914A>G

Select item 14903142134.

rs1490314213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:136673246 (GRCh38)
9:139567698 (GRCh37)
Canonical SPDI:: NC_000009.12:136673245:C:A,NC_000009.12:136673245:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.136673246C>A, NC_000009.12:g.136673246C>T, NC_000009.11:g.139567698C>A, NC_000009.11:g.139567698C>T, NG_008090.1:g.19214G>T, NG_008090.1:g.19214G>A, NM_006412.4:c.*506G>T, NM_006412.4:c.*506G>A, NM_006412.3:c.*506G>T, NM_006412.3:c.*506G>A, NM_001012727.2:c.*506G>T, NM_001012727.2:c.*506G>A, NM_001012727.1:c.*506G>T, NM_001012727.1:c.*506G>A, XM_047422636.1:c.*506G>T, XM_047422636.1:c.*506G>A

Select item 14902813655.

rs1490281365 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136685417 (GRCh38)
9:139579869 (GRCh37)
Canonical SPDI:: NC_000009.12:136685416:G:A
Gene:: AGPAT2 (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_000009.12:g.136685417G>A, NC_000009.11:g.139579869G>A, NG_008090.1:g.7043C>T

Select item 14897431886.

rs1489743188 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136680258 (GRCh38)
9:139574710 (GRCh37)
Canonical SPDI:: NC_000009.12:136680257:A:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.136680258A>G, NC_000009.11:g.139574710A>G, NG_008090.1:g.12202T>C

Select item 14897343087.

rs1489734308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136685107 (GRCh38)
9:139579559 (GRCh37)
Canonical SPDI:: NC_000009.12:136685106:C:G,NC_000009.12:136685106:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.136685107C>G, NC_000009.12:g.136685107C>T, NC_000009.11:g.139579559C>G, NC_000009.11:g.139579559C>T, NG_008090.1:g.7353G>C, NG_008090.1:g.7353G>A

Select item 14897000138.

rs1489700013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:136671179 (GRCh38)
9:139565631 (GRCh37)
Canonical SPDI:: NC_000009.12:136671178:C:G,NC_000009.12:136671178:C:T
Gene:: EGFL7 (Varview), MIR126 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.136671179C>G, NC_000009.12:g.136671179C>T, NC_000009.11:g.139565631C>G, NC_000009.11:g.139565631C>T, NG_008090.1:g.21281G>C, NG_008090.1:g.21281G>A

Select item 14896760039.

rs1489676003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136680087 (GRCh38)
9:139574539 (GRCh37)
Canonical SPDI:: NC_000009.12:136680086:G:A
Gene:: AGPAT2 (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_000009.12:g.136680087G>A, NC_000009.11:g.139574539G>A, NG_008090.1:g.12373C>T

Select item 148953051910.

rs1489530519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136679986 (GRCh38)
9:139574438 (GRCh37)
Canonical SPDI:: NC_000009.12:136679985:C:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000009.12:g.136679986C>G, NC_000009.11:g.139574438C>G, NG_008090.1:g.12474G>C

Select item 148949868711.

rs1489498687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136678164 (GRCh38)
9:139572616 (GRCh37)
Canonical SPDI:: NC_000009.12:136678163:C:T
Gene:: AGPAT2 (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_000009.12:g.136678164C>T, NC_000009.11:g.139572616C>T, NG_008090.1:g.14296G>A

Select item 148945836212.

rs1489458362 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAGCCCCA [Show Flanks]
Chromosome:: 9:136677352 (GRCh38)
9:139571805 (GRCh37)
Canonical SPDI:: NC_000009.12:136677352:CAGCCCCACACAGCCCCA:CAGCCCCACACAGCCCCACACAGCCCCA
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAGCCCCACACAGCCCCACACAGCCCCA=0.000169/2 (ALFA)
CAGCCCCACA=0.00005/7 (GnomAD)
HGVS:: NC_000009.12:g.136677361_136677370dup, NC_000009.11:g.139571813_139571822dup, NG_008090.1:g.15098_15107dup

Select item 148942519113.

rs1489425191 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:136676217 (GRCh38)
9:139570669 (GRCh37)
Canonical SPDI:: NC_000009.12:136676216:C:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: 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_000009.12:g.136676217C>G, NC_000009.11:g.139570669C>G, NG_008090.1:g.16243G>C

Select item 148934917714.

rs1489349177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136688601 (GRCh38)
9:139583053 (GRCh37)
Canonical SPDI:: NC_000009.12:136688600:C:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.136688601C>T, NC_000009.11:g.139583053C>T, NG_008090.1:g.3859G>A

Select item 148923357915.

rs1489233579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:136689521 (GRCh38)
9:139583973 (GRCh37)
Canonical SPDI:: NC_000009.12:136689520:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.136689521C>T, NC_000009.11:g.139583973C>T, NG_008090.1:g.2939G>A

Select item 148912111516.

rs1489121115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136685881 (GRCh38)
9:139580333 (GRCh37)
Canonical SPDI:: NC_000009.12:136685880:G:A
Gene:: AGPAT2 (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_000009.12:g.136685881G>A, NC_000009.11:g.139580333G>A, NG_008090.1:g.6579C>T

Select item 148911725317.

rs1489117253 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:136677574 (GRCh38)
9:139572026 (GRCh37)
Canonical SPDI:: NC_000009.12:136677573:A:G
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.136677574A>G, NC_000009.11:g.139572026A>G, NG_008090.1:g.14886T>C

Select item 148910073018.

rs1489100730 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 9:136686666 (GRCh38)
9:139581118 (GRCh37)
Canonical SPDI:: NC_000009.12:136686665:CCC:CC
Gene:: AGPAT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000009.12:g.136686668del, NC_000009.11:g.139581120del, NG_008090.1:g.5794del

Select item 148894191019.

rs1488941910 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:136674623 (GRCh38)
9:139569075 (GRCh37)
Canonical SPDI:: NC_000009.12:136674622:G:A,NC_000009.12:136674622:G:T
Gene:: AGPAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.136674623G>A, NC_000009.12:g.136674623G>T, NC_000009.11:g.139569075G>A, NC_000009.11:g.139569075G>T, NG_008090.1:g.17837C>T, NG_008090.1:g.17837C>A

Select item 148886848320.

rs1488868483 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:136673866 (GRCh38)
9:139568318 (GRCh37)
Canonical SPDI:: NC_000009.12:136673865:G:A
Gene:: AGPAT2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.136673866G>A, NC_000009.11:g.139568318G>A, NG_008090.1:g.18594C>T, NM_006412.4:c.723C>T, NM_006412.3:c.723C>T, NM_001012727.2:c.627C>T, NM_001012727.1:c.627C>T, XM_047422636.1:c.414C>T

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