SNP Links for Nucleotide (Select 213511959) - SNP

Links from Nucleotide

Items: 1 to 20 of 357

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Select item 14889661691.

rs1488966169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:154944176 (GRCh38)
7:154735886 (GRCh37)
Canonical SPDI:: NC_000007.14:154944175:G:A
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.154944176G>A, NC_000007.13:g.154735886G>A, NG_023293.1:g.63797C>T, NR_024476.1:n.470G>A, NR_024477.1:n.470G>A

Select item 14825869202.

rs1482586920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:154944380 (GRCh38)
7:154736090 (GRCh37)
Canonical SPDI:: NC_000007.14:154944379:C:G
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_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_000007.14:g.154944380C>G, NC_000007.13:g.154736090C>G, NG_023293.1:g.63593G>C, NR_024476.1:n.674C>G, NR_024477.1:n.674C>G

Select item 14824350793.

rs1482435079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:154946842 (GRCh38)
7:154738552 (GRCh37)
Canonical SPDI:: NC_000007.14:154946841:T:C
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.00002/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154946842T>C, NC_000007.13:g.154738552T>C, NG_023293.1:g.61131A>G, NR_024477.1:n.1251T>C

Select item 14808357364.

rs1480835736 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154946726 (GRCh38)
7:154738436 (GRCh37)
Canonical SPDI:: NC_000007.14:154946725:A:G
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.154946726A>G, NC_000007.13:g.154738436A>G, NG_023293.1:g.61247T>C, NM_007349.4:c.3010T>C, NM_007349.3:c.3010T>C, XM_011515982.4:c.2932T>C, XM_011515982.3:c.2932T>C, XM_011515982.2:c.2932T>C, XM_011515982.1:c.2932T>C, XM_047420059.1:c.2269T>C, XM_047420057.1:c.2908T>C, XM_047420058.1:c.2869T>C, NR_024476.1:n.1182A>G, NR_024477.1:n.1135A>G, NP_031375.3:p.Ser1004Pro, XP_011514284.1:p.Ser978Pro, XP_047276015.1:p.Ser757Pro, XP_047276013.1:p.Ser970Pro, XP_047276014.1:p.Ser957Pro

Select item 14805567105.

rs1480556710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:154928993 (GRCh38)
7:154720703 (GRCh37)
Canonical SPDI:: NC_000007.14:154928992:G:C
Gene:: PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154928993G>C, NC_000007.13:g.154720703G>C, NR_024476.1:n.289G>C, NR_024477.1:n.289G>C

Select item 14785748626.

rs1478574862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154944042 (GRCh38)
7:154735752 (GRCh37)
Canonical SPDI:: NC_000007.14:154944041:A:G
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.154944042A>G, NC_000007.13:g.154735752A>G, NG_023293.1:g.63931T>C, NM_007349.4:c.*107T>C, NM_007349.3:c.*107T>C, XM_011515982.4:c.*107T>C, XM_011515982.3:c.*107T>C, XM_011515982.2:c.*107T>C, XM_011515982.1:c.*107T>C, XM_047420059.1:c.*107T>C, XM_047420057.1:c.*107T>C, XM_047420058.1:c.*107T>C, NR_024476.1:n.336A>G, NR_024477.1:n.336A>G

Select item 14780278117.

rs1478027811 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154928733 (GRCh38)
7:154720443 (GRCh37)
Canonical SPDI:: NC_000007.14:154928732:A:G
Gene:: PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_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_000007.14:g.154928733A>G, NC_000007.13:g.154720443A>G, NR_024476.1:n.217A>G, NR_024477.1:n.217A>G

Select item 14740507448.

rs1474050744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:154929007 (GRCh38)
7:154720717 (GRCh37)
Canonical SPDI:: NC_000007.14:154929006:G:C
Gene:: PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154929007G>C, NC_000007.13:g.154720717G>C, NR_024476.1:n.303G>C, NR_024477.1:n.303G>C

Select item 14695511409.

rs1469551140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:154944555 (GRCh38)
7:154736265 (GRCh37)
Canonical SPDI:: NC_000007.14:154944554:G:C
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000034/9 (TOPMED)
HGVS:: NC_000007.14:g.154944555G>C, NC_000007.13:g.154736265G>C, NG_023293.1:g.63418C>G, NR_024476.1:n.849G>C, NR_024477.1:n.849G>C

Select item 146433537510.

rs1464335375 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:154944416 (GRCh38)
7:154736126 (GRCh37)
Canonical SPDI:: NC_000007.14:154944415:A:C
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.154944416A>C, NC_000007.13:g.154736126A>C, NG_023293.1:g.63557T>G, NR_024476.1:n.710A>C, NR_024477.1:n.710A>C

Select item 146387040911.

rs1463870409 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:154928685 (GRCh38)
7:154720395 (GRCh37)
Canonical SPDI:: NC_000007.14:154928684:G:C
Gene:: PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_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_000007.14:g.154928685G>C, NC_000007.13:g.154720395G>C, NR_024476.1:n.169G>C, NR_024477.1:n.169G>C

Select item 146343919312.

rs1463439193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:154946782 (GRCh38)
7:154738492 (GRCh37)
Canonical SPDI:: NC_000007.14:154946781:C:T
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.154946782C>T, NC_000007.13:g.154738492C>T, NG_023293.1:g.61191G>A, NM_007349.4:c.2954G>A, NM_007349.3:c.2954G>A, XM_011515982.4:c.2876G>A, XM_011515982.3:c.2876G>A, XM_011515982.2:c.2876G>A, XM_011515982.1:c.2876G>A, XM_047420059.1:c.2213G>A, XM_047420057.1:c.2852G>A, XM_047420058.1:c.2813G>A, NR_024476.1:n.1238C>T, NR_024477.1:n.1191C>T, NP_031375.3:p.Cys985Tyr, XP_011514284.1:p.Cys959Tyr, XP_047276015.1:p.Cys738Tyr, XP_047276013.1:p.Cys951Tyr, XP_047276014.1:p.Cys938Tyr

Select item 146305744513.

rs1463057445 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:154944607 (GRCh38)
7:154736317 (GRCh37)
Canonical SPDI:: NC_000007.14:154944606:A:G
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000007.14:g.154944607A>G, NC_000007.13:g.154736317A>G, NG_023293.1:g.63366T>C, NR_024476.1:n.901A>G, NR_024477.1:n.901A>G

Select item 146211852714.

rs1462118527 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:154944197 (GRCh38)
7:154735907 (GRCh37)
Canonical SPDI:: NC_000007.14:154944196:C:T
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154944197C>T, NC_000007.13:g.154735907C>T, NG_023293.1:g.63776G>A, NR_024476.1:n.491C>T, NR_024477.1:n.491C>T

Select item 146125966315.

rs1461259663 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:154946415 (GRCh38)
7:154738126 (GRCh37)
Canonical SPDI:: NC_000007.14:154946415:TT:TTT
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.154946417dup, NC_000007.13:g.154738127dup, NG_023293.1:g.61557dup, NM_007349.4:c.3143dup, NM_007349.3:c.3143dup, XM_011515982.4:c.3065dup, XM_011515982.3:c.3065dup, XM_011515982.2:c.3065dup, XM_011515982.1:c.3065dup, XM_047420059.1:c.2402dup, XM_047420057.1:c.3041dup, XM_047420058.1:c.3002dup, NR_024476.1:n.972dup, NR_024477.1:n.972dup, NP_031375.3:p.Asn1048fs, XP_011514284.1:p.Asn1022fs, XP_047276015.1:p.Asn801fs, XP_047276013.1:p.Asn1014fs, XP_047276014.1:p.Asn1001fs

Select item 145738341716.

rs1457383417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:154944365 (GRCh38)
7:154736075 (GRCh37)
Canonical SPDI:: NC_000007.14:154944364:C:T
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.0001/14 (GnomAD)
T=0.000106/28 (TOPMED)
HGVS:: NC_000007.14:g.154944365C>T, NC_000007.13:g.154736075C>T, NG_023293.1:g.63608G>A, NR_024476.1:n.659C>T, NR_024477.1:n.659C>T

Select item 145673127417.

rs1456731274 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:154928749 (GRCh38)
7:154720459 (GRCh37)
Canonical SPDI:: NC_000007.14:154928748:C:T
Gene:: PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_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_000007.14:g.154928749C>T, NC_000007.13:g.154720459C>T, NR_024476.1:n.233C>T, NR_024477.1:n.233C>T

Select item 145531072418.

rs1455310724 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:154944031 (GRCh38)
7:154735742 (GRCh37)
Canonical SPDI:: NC_000007.14:154944031:T:TT
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.154944032dup, NC_000007.13:g.154735742dup, NG_023293.1:g.63941dup, NM_007349.4:c.*117dup, NM_007349.3:c.*117dup, XM_011515982.4:c.*117dup, XM_011515982.3:c.*117dup, XM_011515982.2:c.*117dup, XM_011515982.1:c.*117dup, XM_047420059.1:c.*117dup, XM_047420057.1:c.*117dup, XM_047420058.1:c.*117dup, NR_024476.1:n.326dup, NR_024477.1:n.326dup

Select item 145525030319.

rs1455250303 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:154944390 (GRCh38)
7:154736100 (GRCh37)
Canonical SPDI:: NC_000007.14:154944389:C:T
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.154944390C>T, NC_000007.13:g.154736100C>T, NG_023293.1:g.63583G>A, NR_024476.1:n.684C>T, NR_024477.1:n.684C>T

Select item 145368717920.

rs1453687179 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 7:154944121 (GRCh38)
7:154735831 (GRCh37)
Canonical SPDI:: NC_000007.14:154944120:G:A,NC_000007.14:154944120:G:T
Gene:: PAXIP1 (Varview), PAXIP1-AS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.154944121G>A, NC_000007.14:g.154944121G>T, NC_000007.13:g.154735831G>A, NC_000007.13:g.154735831G>T, NG_023293.1:g.63852C>T, NG_023293.1:g.63852C>A, NM_007349.4:c.*28C>T, NM_007349.4:c.*28C>A, NM_007349.3:c.*28C>T, NM_007349.3:c.*28C>A, XM_011515982.4:c.*28C>T, XM_011515982.4:c.*28C>A, XM_011515982.3:c.*28C>T, XM_011515982.3:c.*28C>A, XM_011515982.2:c.*28C>T, XM_011515982.2:c.*28C>A, XM_011515982.1:c.*28C>T, XM_011515982.1:c.*28C>A, XM_047420059.1:c.*28C>T, XM_047420059.1:c.*28C>A, XM_047420057.1:c.*28C>T, XM_047420057.1:c.*28C>A, XM_047420058.1:c.*28C>T, XM_047420058.1:c.*28C>A, NR_024476.1:n.415G>A, NR_024476.1:n.415G>T, NR_024477.1:n.415G>A, NR_024477.1:n.415G>T

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