SNP Links for Nucleotide (Select 18543374) - SNP

Links from Nucleotide

Items: 1 to 20 of 484

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Select item 14890002781.

rs1489000278 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:31032219 (GRCh38)
8:30889735 (GRCh37)
Canonical SPDI:: NC_000008.11:31032218:C:T
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.31032219C>T, NC_000008.10:g.30889735C>T, NG_008870.1:g.3958C>T, NM_001015508.3:c.564G>A, NM_001015508.2:c.564G>A, NM_001015508.1:c.564G>A, NM_001323311.2:c.564G>A, NM_001323311.1:c.564G>A, NM_001323312.2:c.564G>A, NM_001323312.1:c.564G>A, NM_013357.2:c.564G>A

Select item 14886756202.

rs1488675620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31031701 (GRCh38)
8:30889217 (GRCh37)
Canonical SPDI:: NC_000008.11:31031700:G:A
Gene:: PURG (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.31031701G>A, NC_000008.10:g.30889217G>A, NG_008870.1:g.3440G>A, NM_001323311.2:c.*38C>T, NM_001323311.1:c.*38C>T, NM_013357.2:c.*38C>T

Select item 14880581773.

rs1488058177 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31031015 (GRCh38)
8:30888531 (GRCh37)
Canonical SPDI:: NC_000008.11:31031014:G:A
Gene:: PURG (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31031015G>A, NC_000008.10:g.30888531G>A, NG_008870.1:g.2754G>A, NM_001323311.2:c.*724C>T, NM_001323311.1:c.*724C>T, NM_013357.2:c.*724C>T

Select item 14878301584.

rs1487830158 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31032161 (GRCh38)
8:30889677 (GRCh37)
Canonical SPDI:: NC_000008.11:31032160:T:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_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)
C=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.31032161T>C, NC_000008.10:g.30889677T>C, NG_008870.1:g.3900T>C, NM_001015508.3:c.622A>G, NM_001015508.2:c.622A>G, NM_001015508.1:c.622A>G, NM_001323311.2:c.622A>G, NM_001323311.1:c.622A>G, NM_001323312.2:c.622A>G, NM_001323312.1:c.622A>G, NM_013357.2:c.622A>G, NP_001015508.1:p.Met208Val, NP_001310240.1:p.Met208Val, NP_001310241.1:p.Met208Val, NP_037489.1:p.Met208Val

Select item 14857672785.

rs1485767278 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31031511 (GRCh38)
8:30889027 (GRCh37)
Canonical SPDI:: NC_000008.11:31031510:T:C
Gene:: PURG (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000045/12 (TOPMED)
HGVS:: NC_000008.11:g.31031511T>C, NC_000008.10:g.30889027T>C, NG_008870.1:g.3250T>C, NM_001323311.2:c.*228A>G, NM_001323311.1:c.*228A>G, NM_013357.2:c.*228A>G

Select item 14850727886.

rs1485072788 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:31031898 (GRCh38)
8:30889414 (GRCh37)
Canonical SPDI:: NC_000008.11:31031897:A:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.31031898A>C, NC_000008.10:g.30889414A>C, NG_008870.1:g.3637A>C, NM_001323311.2:c.885T>G, NM_001323311.1:c.885T>G, NM_013357.2:c.885T>G

Select item 14827318887.

rs1482731888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 8:31031389 (GRCh38)
8:30888905 (GRCh37)
Canonical SPDI:: NC_000008.11:31031388:T:G
Gene:: PURG (Varview)
Functional Consequence:: 3_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.31031389T>G, NC_000008.10:g.30888905T>G, NG_008870.1:g.3128T>G, NM_001323311.2:c.*350A>C, NM_001323311.1:c.*350A>C, NM_013357.2:c.*350A>C

Select item 14792215998.

rs1479221599 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:31032715 (GRCh38)
8:30890231 (GRCh37)
Canonical SPDI:: NC_000008.11:31032714:G:A,NC_000008.11:31032714:G:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.31032715G>A, NC_000008.11:g.31032715G>C, NC_000008.10:g.30890231G>A, NC_000008.10:g.30890231G>C, NG_008870.1:g.4454G>A, NG_008870.1:g.4454G>C, NM_001015508.3:c.68C>T, NM_001015508.3:c.68C>G, NM_001015508.2:c.68C>T, NM_001015508.2:c.68C>G, NM_001015508.1:c.68C>T, NM_001015508.1:c.68C>G, NM_001323311.2:c.68C>T, NM_001323311.2:c.68C>G, NM_001323311.1:c.68C>T, NM_001323311.1:c.68C>G, NM_001323312.2:c.68C>T, NM_001323312.2:c.68C>G, NM_001323312.1:c.68C>T, NM_001323312.1:c.68C>G, NM_013357.2:c.68C>T, NM_013357.2:c.68C>G, NP_001015508.1:p.Ser23Phe, NP_001015508.1:p.Ser23Cys, NP_001310240.1:p.Ser23Phe, NP_001310240.1:p.Ser23Cys, NP_001310241.1:p.Ser23Phe, NP_001310241.1:p.Ser23Cys, NP_037489.1:p.Ser23Phe, NP_037489.1:p.Ser23Cys

Select item 14791711579.

rs1479171157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31031724 (GRCh38)
8:30889240 (GRCh37)
Canonical SPDI:: NC_000008.11:31031723:G:A
Gene:: PURG (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000028/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.31031724G>A, NC_000008.10:g.30889240G>A, NG_008870.1:g.3463G>A, NM_001323311.2:c.*15C>T, NM_001323311.1:c.*15C>T, NM_013357.2:c.*15C>T

Select item 147856838910.

rs1478568389 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31031692 (GRCh38)
8:30889208 (GRCh37)
Canonical SPDI:: NC_000008.11:31031691:A:G
Gene:: PURG (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31031692A>G, NC_000008.10:g.30889208A>G, NG_008870.1:g.3431A>G, NM_001323311.2:c.*47T>C, NM_001323311.1:c.*47T>C, NM_013357.2:c.*47T>C

Select item 147825898311.

rs1478258983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:31031258 (GRCh38)
8:30888774 (GRCh37)
Canonical SPDI:: NC_000008.11:31031257:C:G,NC_000008.11:31031257:C:T
Gene:: PURG (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31031258C>G, NC_000008.11:g.31031258C>T, NC_000008.10:g.30888774C>G, NC_000008.10:g.30888774C>T, NG_008870.1:g.2997C>G, NG_008870.1:g.2997C>T, NM_001323311.2:c.*481G>C, NM_001323311.2:c.*481G>A, NM_001323311.1:c.*481G>C, NM_001323311.1:c.*481G>A, NM_013357.2:c.*481G>C, NM_013357.2:c.*481G>A

Select item 147590912512.

rs1475909125 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31032658 (GRCh38)
8:30890174 (GRCh37)
Canonical SPDI:: NC_000008.11:31032657:T:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: missense_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
HGVS:: NC_000008.11:g.31032658T>C, NC_000008.10:g.30890174T>C, NG_008870.1:g.4397T>C, NM_001015508.3:c.125A>G, NM_001015508.2:c.125A>G, NM_001015508.1:c.125A>G, NM_001323311.2:c.125A>G, NM_001323311.1:c.125A>G, NM_001323312.2:c.125A>G, NM_001323312.1:c.125A>G, NM_013357.2:c.125A>G, NP_001015508.1:p.Tyr42Cys, NP_001310240.1:p.Tyr42Cys, NP_001310241.1:p.Tyr42Cys, NP_037489.1:p.Tyr42Cys

Select item 147298292313.

rs1472982923 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31032420 (GRCh38)
8:30889936 (GRCh37)
Canonical SPDI:: NC_000008.11:31032419:G:A
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000162/3 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.00067/3 (Estonian)
HGVS:: NC_000008.11:g.31032420G>A, NC_000008.10:g.30889936G>A, NG_008870.1:g.4159G>A, NM_001015508.3:c.363C>T, NM_001015508.2:c.363C>T, NM_001015508.1:c.363C>T, NM_001323311.2:c.363C>T, NM_001323311.1:c.363C>T, NM_001323312.2:c.363C>T, NM_001323312.1:c.363C>T, NM_013357.2:c.363C>T

Select item 147219155814.

rs1472191558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31032776 (GRCh38)
8:30890292 (GRCh37)
Canonical SPDI:: NC_000008.11:31032775:T:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31032776T>C, NC_000008.10:g.30890292T>C, NG_008870.1:g.4515T>C, NM_001015508.3:c.7A>G, NM_001015508.2:c.7A>G, NM_001015508.1:c.7A>G, NM_001323311.2:c.7A>G, NM_001323311.1:c.7A>G, NM_001323312.2:c.7A>G, NM_001323312.1:c.7A>G, NM_013357.2:c.7A>G, NP_001015508.1:p.Arg3Gly, NP_001310240.1:p.Arg3Gly, NP_001310241.1:p.Arg3Gly, NP_037489.1:p.Arg3Gly

Select item 147188802015.

rs1471888020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31030996 (GRCh38)
8:30888512 (GRCh37)
Canonical SPDI:: NC_000008.11:31030995:A:G
Gene:: PURG (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.31030996A>G, NC_000008.10:g.30888512A>G, NG_008870.1:g.2735A>G, NM_001323311.2:c.*743T>C, NM_001323311.1:c.*743T>C, NM_013357.2:c.*743T>C

Select item 147123956216.

rs1471239562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:31032111 (GRCh38)
8:30889627 (GRCh37)
Canonical SPDI:: NC_000008.11:31032110:G:A
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.31032111G>A, NC_000008.10:g.30889627G>A, NG_008870.1:g.3850G>A, NM_001015508.3:c.672C>T, NM_001015508.2:c.672C>T, NM_001015508.1:c.672C>T, NM_001323311.2:c.672C>T, NM_001323311.1:c.672C>T, NM_001323312.2:c.672C>T, NM_001323312.1:c.672C>T, NM_013357.2:c.672C>T

Select item 146506949717.

rs1465069497 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:31031840 (GRCh38)
8:30889356 (GRCh37)
Canonical SPDI:: NC_000008.11:31031839:T:C
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_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.31031840T>C, NC_000008.10:g.30889356T>C, NG_008870.1:g.3579T>C, NM_001323311.2:c.943A>G, NM_001323311.1:c.943A>G, NM_013357.2:c.943A>G, NP_001310240.1:p.Ile315Val, NP_037489.1:p.Ile315Val

Select item 146176845218.

rs1461768452 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31032801 (GRCh38)
8:30890317 (GRCh37)
Canonical SPDI:: NC_000008.11:31032800:A:G
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000015/1 (GnomAD_exomes)
G=0.000029/4 (GnomAD)
HGVS:: NC_000008.11:g.31032801A>G, NC_000008.10:g.30890317A>G, NG_008870.1:g.4540A>G, NM_001015508.3:c.-19T>C, NM_001015508.2:c.-19T>C, NM_001015508.1:c.-19T>C, NM_013357.2:c.-19T>C

Select item 145549856519.

rs1455498565 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31032639 (GRCh38)
8:30890155 (GRCh37)
Canonical SPDI:: NC_000008.11:31032638:A:G
Gene:: WRN (Varview), PURG (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,synonymous_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_000008.11:g.31032639A>G, NC_000008.10:g.30890155A>G, NG_008870.1:g.4378A>G, NM_001015508.3:c.144T>C, NM_001015508.2:c.144T>C, NM_001015508.1:c.144T>C, NM_001323311.2:c.144T>C, NM_001323311.1:c.144T>C, NM_001323312.2:c.144T>C, NM_001323312.1:c.144T>C, NM_013357.2:c.144T>C

Select item 145321029920.

rs1453210299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:31031164 (GRCh38)
8:30888680 (GRCh37)
Canonical SPDI:: NC_000008.11:31031163:A:G
Gene:: PURG (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.31031164A>G, NC_000008.10:g.30888680A>G, NG_008870.1:g.2903A>G, NM_001323311.2:c.*575T>C, NM_001323311.1:c.*575T>C, NM_013357.2:c.*575T>C

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