SNP Links for Nucleotide (Select 498917180) - SNP

Links from Nucleotide

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Select item 14912034011.

rs1491203401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:49869383 (GRCh38)
19:50372641 (GRCh37)
Canonical SPDI:: NC_000019.10:49869383:AAA:AAAA
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.49869386dup, NC_000019.9:g.50372643dup, NG_027717.1:g.3182dup, NM_032375.5:c.*533dup, NM_001098633.4:c.*533dup, NM_001098633.3:c.*533dup, NM_001278159.2:c.*533dup, NM_001278159.1:c.*533dup, NM_001098632.2:c.*533dup, NM_001278160.2:c.*533dup, NM_001278160.1:c.*533dup

Select item 14907920452.

rs1490792045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49870027 (GRCh38)
19:50373284 (GRCh37)
Canonical SPDI:: NC_000019.10:49870026:T:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49870027T>C, NC_000019.9:g.50373284T>C, NG_027717.1:g.2539A>G, NM_032375.5:c.721A>G, NM_001098633.4:c.661A>G, NM_001098633.3:c.661A>G, NM_001278159.2:c.661A>G, NM_001278159.1:c.661A>G, NM_001098632.2:c.661A>G, NM_001278160.2:c.661A>G, NM_001278160.1:c.661A>G, NP_115751.3:p.Ser241Gly, NP_001092103.1:p.Ser221Gly, NP_001265088.1:p.Ser221Gly, NP_001092102.1:p.Ser221Gly, NP_001265089.1:p.Ser221Gly

Select item 14898972003.

rs1489897200 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:49869120 (GRCh38)
19:50372377 (GRCh37)
Canonical SPDI:: NC_000019.10:49869119:A:G
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49869120A>G, NC_000019.9:g.50372377A>G, NG_027717.1:g.3446T>C, NM_032375.5:c.*797T>C, NM_001098633.4:c.*797T>C, NM_001098633.3:c.*797T>C, NM_001278159.2:c.*797T>C, NM_001278159.1:c.*797T>C, NM_001098632.2:c.*797T>C, NM_001278160.2:c.*797T>C, NM_001278160.1:c.*797T>C

Select item 14897301844.

rs1489730184 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 19:49876928 (GRCh38)
19:50380185 (GRCh37)
Canonical SPDI:: NC_000019.10:49876923:CTTCTTC:CTTC
Gene:: TBC1D17 (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000023/6 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.49876925TTC[1], NC_000019.9:g.50380182TTC[1], NM_032375.5:c.-274AAG[1]

Select item 14897215645.

rs1489721564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49870040 (GRCh38)
19:50373297 (GRCh37)
Canonical SPDI:: NC_000019.10:49870039:G:A,NC_000019.10:49870039:G:C
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.00011/2 (TOMMO)
HGVS:: NC_000019.10:g.49870040G>A, NC_000019.10:g.49870040G>C, NC_000019.9:g.50373297G>A, NC_000019.9:g.50373297G>C, NG_027717.1:g.2526C>T, NG_027717.1:g.2526C>G, NM_032375.5:c.708C>T, NM_032375.5:c.708C>G, NM_001098633.4:c.648C>T, NM_001098633.4:c.648C>G, NM_001098633.3:c.648C>T, NM_001098633.3:c.648C>G, NM_001278159.2:c.648C>T, NM_001278159.2:c.648C>G, NM_001278159.1:c.648C>T, NM_001278159.1:c.648C>G, NM_001098632.2:c.648C>T, NM_001098632.2:c.648C>G, NM_001278160.2:c.648C>T, NM_001278160.2:c.648C>G, NM_001278160.1:c.648C>T, NM_001278160.1:c.648C>G, NP_115751.3:p.Asp236Glu, NP_001092103.1:p.Asp216Glu, NP_001265088.1:p.Asp216Glu, NP_001092102.1:p.Asp216Glu, NP_001265089.1:p.Asp216Glu

Select item 14892973256.

rs1489297325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:49869628 (GRCh38)
19:50372885 (GRCh37)
Canonical SPDI:: NC_000019.10:49869627:C:G
Gene:: AKT1S1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.49869628C>G, NC_000019.9:g.50372885C>G, NG_027717.1:g.2938G>C, NM_032375.5:c.*289G>C, NM_001098633.4:c.*289G>C, NM_001098633.3:c.*289G>C, NM_001278159.2:c.*289G>C, NM_001278159.1:c.*289G>C, NM_001098632.2:c.*289G>C, NM_001278160.2:c.*289G>C, NM_001278160.1:c.*289G>C

Select item 14887381477.

rs1488738147 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49869126 (GRCh38)
19:50372383 (GRCh37)
Canonical SPDI:: NC_000019.10:49869125:G:A
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49869126G>A, NC_000019.9:g.50372383G>A, NG_027717.1:g.3440C>T, NM_032375.5:c.*791C>T, NM_001098633.4:c.*791C>T, NM_001098633.3:c.*791C>T, NM_001278159.2:c.*791C>T, NM_001278159.1:c.*791C>T, NM_001098632.2:c.*791C>T, NM_001278160.2:c.*791C>T, NM_001278160.1:c.*791C>T

Select item 14887152558.

rs1488715255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49869376 (GRCh38)
19:50372633 (GRCh37)
Canonical SPDI:: NC_000019.10:49869375:C:T
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000285/4 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000045/12 (TOPMED)
HGVS:: NC_000019.10:g.49869376C>T, NC_000019.9:g.50372633C>T, NG_027717.1:g.3190G>A, NM_032375.5:c.*541G>A, NM_001098633.4:c.*541G>A, NM_001098633.3:c.*541G>A, NM_001278159.2:c.*541G>A, NM_001278159.1:c.*541G>A, NM_001098632.2:c.*541G>A, NM_001278160.2:c.*541G>A, NM_001278160.1:c.*541G>A

Select item 14883697289.

rs1488369728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49869440 (GRCh38)
19:50372697 (GRCh37)
Canonical SPDI:: NC_000019.10:49869439:G:A
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.49869440G>A, NC_000019.9:g.50372697G>A, NG_027717.1:g.3126C>T, NM_032375.5:c.*477C>T, NM_001098633.4:c.*477C>T, NM_001098633.3:c.*477C>T, NM_001278159.2:c.*477C>T, NM_001278159.1:c.*477C>T, NM_001098632.2:c.*477C>T, NM_001278160.2:c.*477C>T, NM_001278160.1:c.*477C>T

Select item 148809127510.

rs1488091275 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49869691 (GRCh38)
19:50372948 (GRCh37)
Canonical SPDI:: NC_000019.10:49869690:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.49869691G>A, NC_000019.9:g.50372948G>A, NG_027717.1:g.2875C>T, NM_032375.5:c.*226C>T, NM_001098633.4:c.*226C>T, NM_001098633.3:c.*226C>T, NM_001278159.2:c.*226C>T, NM_001278159.1:c.*226C>T, NM_001098632.2:c.*226C>T, NM_001278160.2:c.*226C>T, NM_001278160.1:c.*226C>T

Select item 148744531311.

rs1487445313 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49873089 (GRCh38)
19:50376346 (GRCh37)
Canonical SPDI:: NC_000019.10:49873088:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49873089G>A, NC_000019.9:g.50376346G>A, NM_032375.5:c.267C>T, NM_001098633.4:c.207C>T, NM_001098633.3:c.207C>T, NM_001278159.2:c.207C>T, NM_001278159.1:c.207C>T, NM_001098632.2:c.207C>T, NM_001278160.2:c.207C>T, NM_001278160.1:c.207C>T

Select item 148720838712.

rs1487208387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:49876640 (GRCh38)
19:50379897 (GRCh37)
Canonical SPDI:: NC_000019.10:49876639:C:T
Gene:: TBC1D17 (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49876640C>T, NC_000019.9:g.50379897C>T, NM_032375.5:c.16G>A, NP_115751.3:p.Gly6Ser

Select item 148716566513.

rs1487165665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:49876980 (GRCh38)
19:50380237 (GRCh37)
Canonical SPDI:: NC_000019.10:49876979:G:A,NC_000019.10:49876979:G:C
Gene:: TBC1D17 (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.49876980G>A, NC_000019.10:g.49876980G>C, NC_000019.9:g.50380237G>A, NC_000019.9:g.50380237G>C, NM_032375.5:c.-325C>T, NM_032375.5:c.-325C>G

Select item 148671004714.

rs1486710047 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:49877208 (GRCh38)
19:50380465 (GRCh37)
Canonical SPDI:: NC_000019.10:49877207:T:C
Gene:: TBC1D17 (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_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_000019.10:g.49877208T>C, NC_000019.9:g.50380465T>C, NM_032375.5:c.-553A>G, NM_001098632.2:c.-191A>G

Select item 148634151815.

rs1486341518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:49871681 (GRCh38)
19:50374938 (GRCh37)
Canonical SPDI:: NC_000019.10:49871680:G:A,NC_000019.10:49871680:G:C,NC_000019.10:49871680:G:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.49871681G>A, NC_000019.10:g.49871681G>C, NC_000019.10:g.49871681G>T, NC_000019.9:g.50374938G>A, NC_000019.9:g.50374938G>C, NC_000019.9:g.50374938G>T, NG_027717.1:g.885C>T, NG_027717.1:g.885C>G, NG_027717.1:g.885C>A, NM_032375.5:c.553C>T, NM_032375.5:c.553C>G, NM_032375.5:c.553C>A, NM_001098633.4:c.493C>T, NM_001098633.4:c.493C>G, NM_001098633.4:c.493C>A, NM_001098633.3:c.493C>T, NM_001098633.3:c.493C>G, NM_001098633.3:c.493C>A, NM_001278159.2:c.493C>T, NM_001278159.2:c.493C>G, NM_001278159.2:c.493C>A, NM_001278159.1:c.493C>T, NM_001278159.1:c.493C>G, NM_001278159.1:c.493C>A, NM_001098632.2:c.493C>T, NM_001098632.2:c.493C>G, NM_001098632.2:c.493C>A, NM_001278160.2:c.493C>T, NM_001278160.2:c.493C>G, NM_001278160.2:c.493C>A, NM_001278160.1:c.493C>T, NM_001278160.1:c.493C>G, NM_001278160.1:c.493C>A, NP_115751.3:p.Pro185Ser, NP_115751.3:p.Pro185Ala, NP_115751.3:p.Pro185Thr, NP_001092103.1:p.Pro165Ser, NP_001092103.1:p.Pro165Ala, NP_001092103.1:p.Pro165Thr, NP_001265088.1:p.Pro165Ser, NP_001265088.1:p.Pro165Ala, NP_001265088.1:p.Pro165Thr, NP_001092102.1:p.Pro165Ser, NP_001092102.1:p.Pro165Ala, NP_001092102.1:p.Pro165Thr, NP_001265089.1:p.Pro165Ser, NP_001265089.1:p.Pro165Ala, NP_001265089.1:p.Pro165Thr

Select item 148616216216.

rs1486162162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:49869961 (GRCh38)
19:50373218 (GRCh37)
Canonical SPDI:: NC_000019.10:49869960:G:T
Gene:: AKT1S1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.49869961G>T, NC_000019.9:g.50373218G>T, NG_027717.1:g.2605C>A, NM_032375.5:c.787C>A, NM_001098633.4:c.727C>A, NM_001098633.3:c.727C>A, NM_001278159.2:c.727C>A, NM_001278159.1:c.727C>A, NM_001098632.2:c.727C>A, NM_001278160.2:c.727C>A, NM_001278160.1:c.727C>A

Select item 148495683917.

rs1484956839 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49869168 (GRCh38)
19:50372425 (GRCh37)
Canonical SPDI:: NC_000019.10:49869167:G:A
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.49869168G>A, NC_000019.9:g.50372425G>A, NG_027717.1:g.3398C>T, NM_032375.5:c.*749C>T, NM_001098633.4:c.*749C>T, NM_001098633.3:c.*749C>T, NM_001278159.2:c.*749C>T, NM_001278159.1:c.*749C>T, NM_001098632.2:c.*749C>T, NM_001278160.2:c.*749C>T, NM_001278160.1:c.*749C>T

Select item 148384577418.

rs1483845774 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49869554 (GRCh38)
19:50372811 (GRCh37)
Canonical SPDI:: NC_000019.10:49869553:C:G,NC_000019.10:49869553:C:T
Gene:: PNKP (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.49869554C>G, NC_000019.10:g.49869554C>T, NC_000019.9:g.50372811C>G, NC_000019.9:g.50372811C>T, NG_027717.1:g.3012G>C, NG_027717.1:g.3012G>A, NM_032375.5:c.*363G>C, NM_032375.5:c.*363G>A, NM_001098633.4:c.*363G>C, NM_001098633.4:c.*363G>A, NM_001098633.3:c.*363G>C, NM_001098633.3:c.*363G>A, NM_001278159.2:c.*363G>C, NM_001278159.2:c.*363G>A, NM_001278159.1:c.*363G>C, NM_001278159.1:c.*363G>A, NM_001098632.2:c.*363G>C, NM_001098632.2:c.*363G>A, NM_001278160.2:c.*363G>C, NM_001278160.2:c.*363G>A, NM_001278160.1:c.*363G>C, NM_001278160.1:c.*363G>A

Select item 148289448019.

rs1482894480 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:49871827 (GRCh38)
19:50375084 (GRCh37)
Canonical SPDI:: NC_000019.10:49871826:G:A
Gene:: AKT1S1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.49871827G>A, NC_000019.9:g.50375084G>A, NG_027717.1:g.739C>T, NM_032375.5:c.502C>T, NM_001098633.4:c.442C>T, NM_001098633.3:c.442C>T, NM_001278159.2:c.442C>T, NM_001278159.1:c.442C>T, NM_001098632.2:c.442C>T, NM_001278160.2:c.442C>T, NM_001278160.1:c.442C>T, NP_115751.3:p.Pro168Ser, NP_001092103.1:p.Pro148Ser, NP_001265088.1:p.Pro148Ser, NP_001092102.1:p.Pro148Ser, NP_001265089.1:p.Pro148Ser

Select item 148275000120.

rs1482750001 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:49876904 (GRCh38)
19:50380161 (GRCh37)
Canonical SPDI:: NC_000019.10:49876903:C:G,NC_000019.10:49876903:C:T
Gene:: TBC1D17 (Varview), AKT1S1 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.49876904C>G, NC_000019.10:g.49876904C>T, NC_000019.9:g.50380161C>G, NC_000019.9:g.50380161C>T, NM_032375.5:c.-249G>C, NM_032375.5:c.-249G>A

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