SNP Links for Protein (Select 746816135) - SNP

Links from Protein

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Select item 14898724601.

rs1489872460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155216538 (GRCh38)
X:154444815 (GRCh37)
Canonical SPDI:: NC_000023.11:155216537:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155216538G>A, NW_003871103.3:g.2650517G>A, NG_013269.2:g.24532G>A, NM_003372.7:c.56G>A, NM_003372.6:c.56G>A, NM_003372.5:c.56G>A, NM_001303543.1:c.164G>A, NM_001303545.1:c.-52G>A, NG_063204.1:g.427G>A, NC_000023.10:g.154444815G>A, NP_003363.1:p.Arg19Gln, NP_001290472.1:p.Arg55Gln

Select item 14867063182.

rs1486706318 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:155216386 (GRCh38)
X:154444663 (GRCh37)
Canonical SPDI:: NC_000023.11:155216385:T:C
Gene:: VBP1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155216386T>C, NW_003871103.3:g.2650365T>C, NG_013269.2:g.24380T>C, NM_001303543.1:c.12T>C, NG_063204.1:g.275T>C, NC_000023.10:g.154444663T>C

Select item 14790829893.

rs1479082989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155228482 (GRCh38)
X:154456764 (GRCh37)
Canonical SPDI:: NC_000023.11:155228481:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000029/3 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000023.11:g.155228482G>A, NW_003871103.3:g.2662461G>A, NG_013269.2:g.36476G>A, NM_003372.7:c.384G>A, NM_003372.6:c.384G>A, NM_003372.5:c.384G>A, NM_001303543.1:c.492G>A, NM_001303544.1:c.369G>A, NM_001303545.1:c.273G>A, NC_000023.10:g.154456764G>A

Select item 14690538194.

rs1469053819 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:155236269 (GRCh38)
X:154464550 (GRCh37)
Canonical SPDI:: NC_000023.11:155236268:C:A
Gene:: VBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155236269C>A, NW_003871103.3:g.2670248C>A, NG_013269.2:g.44263C>A, NM_003372.7:c.425C>A, NM_003372.6:c.425C>A, NM_003372.5:c.425C>A, NM_001303543.1:c.533C>A, NM_001303544.1:c.410C>A, NM_001303545.1:c.314C>A, NC_000023.10:g.154464550C>A, NP_003363.1:p.Ala142Glu, NP_001290472.1:p.Ala178Glu, NP_001290473.1:p.Ala137Glu, NP_001290474.1:p.Ala105Glu

Select item 14486885565.

rs1448688556 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155220291 (GRCh38)
X:154448568 (GRCh37)
Canonical SPDI:: NC_000023.11:155220290:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155220291G>A, NW_003871103.3:g.2654270G>A, NG_013269.2:g.28285G>A, NM_003372.7:c.202G>A, NM_003372.6:c.202G>A, NM_003372.5:c.202G>A, NM_001303543.1:c.310G>A, NM_001303544.1:c.187G>A, NM_001303545.1:c.91G>A, NC_000023.10:g.154448568G>A, NP_003363.1:p.Ala68Thr, NP_001290472.1:p.Ala104Thr, NP_001290473.1:p.Ala63Thr, NP_001290474.1:p.Ala31Thr

Select item 14458833026.

rs1445883302 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155227236 (GRCh38)
X:154455517 (GRCh37)
Canonical SPDI:: NC_000023.11:155227235:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155227236C>T, NW_003871103.3:g.2661215C>T, NG_013269.2:g.35230C>T, NM_003372.7:c.220C>T, NM_003372.6:c.220C>T, NM_003372.5:c.220C>T, NM_001303543.1:c.328C>T, NM_001303544.1:c.205C>T, NM_001303545.1:c.109C>T, NC_000023.10:g.154455517C>T

Select item 14302981687.

rs1430298168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155216497 (GRCh38)
X:154444774 (GRCh37)
Canonical SPDI:: NC_000023.11:155216496:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155216497G>A, NW_003871103.3:g.2650476G>A, NG_013269.2:g.24491G>A, NM_003372.7:c.15G>A, NM_003372.6:c.15G>A, NM_003372.5:c.15G>A, NM_001303543.1:c.123G>A, NM_001303545.1:c.-93G>A, NG_063204.1:g.386G>A, NC_000023.10:g.154444774G>A

Select item 14295076038.

rs1429507603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:155216465 (GRCh38)
X:154444742 (GRCh37)
Canonical SPDI:: NC_000023.11:155216464:C:A,NC_000023.11:155216464:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.155216465C>A, NC_000023.11:g.155216465C>T, NW_003871103.3:g.2650444C>A, NW_003871103.3:g.2650444C>T, NG_013269.2:g.24459C>A, NG_013269.2:g.24459C>T, NM_003372.7:c.-18C>A, NM_003372.7:c.-18C>T, NM_003372.6:c.-18C>A, NM_003372.6:c.-18C>T, NM_003372.5:c.-18C>A, NM_003372.5:c.-18C>T, NM_001303543.1:c.91C>A, NM_001303543.1:c.91C>T, NM_001303545.1:c.-125C>A, NM_001303545.1:c.-125C>T, NG_063204.1:g.354C>A, NG_063204.1:g.354C>T, NC_000023.10:g.154444742C>A, NC_000023.10:g.154444742C>T, NP_001290472.1:p.Arg31Ser, NP_001290472.1:p.Arg31Cys

Select item 14170566689.

rs1417056668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:155216516 (GRCh38)
X:154444793 (GRCh37)
Canonical SPDI:: NC_000023.11:155216515:G:A,NC_000023.11:155216515:G:C
Gene:: VBP1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155216516G>A, NC_000023.11:g.155216516G>C, NW_003871103.3:g.2650495G>A, NW_003871103.3:g.2650495G>C, NG_013269.2:g.24510G>A, NG_013269.2:g.24510G>C, NM_003372.7:c.34G>A, NM_003372.7:c.34G>C, NM_003372.6:c.34G>A, NM_003372.6:c.34G>C, NM_003372.5:c.34G>A, NM_003372.5:c.34G>C, NM_001303543.1:c.142G>A, NM_001303543.1:c.142G>C, NM_001303545.1:c.-74G>A, NM_001303545.1:c.-74G>C, NG_063204.1:g.405G>A, NG_063204.1:g.405G>C, NC_000023.10:g.154444793G>A, NC_000023.10:g.154444793G>C, NP_003363.1:p.Glu12Lys, NP_003363.1:p.Glu12Gln, NP_001290472.1:p.Glu48Lys, NP_001290472.1:p.Glu48Gln

Select item 140954010510.

rs1409540105 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155238842 (GRCh38)
X:154467123 (GRCh37)
Canonical SPDI:: NC_000023.11:155238841:A:G
Gene:: VBP1 (Varview)
Functional Consequence:: synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155238842A>G, NW_003871103.3:g.2672821A>G, NG_013269.2:g.46836A>G, NM_003372.7:c.594A>G, NM_003372.6:c.594A>G, NM_003372.5:c.594A>G, NM_001303543.1:c.702A>G, NM_001303544.1:c.579A>G, NM_001303545.1:c.483A>G, NC_000023.10:g.154467123A>G

Select item 140533249511.

rs1405332495 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: X:155228393 (GRCh38)
X:154456675 (GRCh37)
Canonical SPDI:: NC_000023.11:155228392:AA:A
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155228394del, NW_003871103.3:g.2662373del, NG_013269.2:g.36388del, NM_003372.7:c.296del, NM_003372.6:c.296del, NM_003372.5:c.296del, NM_001303543.1:c.404del, NM_001303544.1:c.281del, NM_001303545.1:c.185del, NC_000023.10:g.154456676del, NP_003363.1:p.Asn99fs, NP_001290472.1:p.Asn135fs, NP_001290473.1:p.Asn94fs, NP_001290474.1:p.Asn62fs

Select item 140339469512.

rs1403394695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155238823 (GRCh38)
X:154467104 (GRCh37)
Canonical SPDI:: NC_000023.11:155238822:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.155238823C>T, NW_003871103.3:g.2672802C>T, NG_013269.2:g.46817C>T, NM_003372.7:c.575C>T, NM_003372.6:c.575C>T, NM_003372.5:c.575C>T, NM_001303543.1:c.683C>T, NM_001303544.1:c.560C>T, NM_001303545.1:c.464C>T, NC_000023.10:g.154467104C>T, NP_003363.1:p.Ser192Phe, NP_001290472.1:p.Ser228Phe, NP_001290473.1:p.Ser187Phe, NP_001290474.1:p.Ser155Phe

Select item 140073028713.

rs1400730287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:155238832 (GRCh38)
X:154467113 (GRCh37)
Canonical SPDI:: NC_000023.11:155238831:A:T
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.155238832A>T, NW_003871103.3:g.2672811A>T, NG_013269.2:g.46826A>T, NM_003372.7:c.584A>T, NM_003372.6:c.584A>T, NM_003372.5:c.584A>T, NM_001303543.1:c.692A>T, NM_001303544.1:c.569A>T, NM_001303545.1:c.473A>T, NC_000023.10:g.154467113A>T, NP_003363.1:p.Asn195Ile, NP_001290472.1:p.Asn231Ile, NP_001290473.1:p.Asn190Ile, NP_001290474.1:p.Asn158Ile

Select item 138331306014.

rs1383313060 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155216440 (GRCh38)
X:154444717 (GRCh37)
Canonical SPDI:: NC_000023.11:155216439:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000169/2 (ALFA)
T=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.155216440C>T, NW_003871103.3:g.2650419C>T, NG_013269.2:g.24434C>T, NM_001303543.1:c.66C>T, NM_001303545.1:c.-150C>T, NG_063204.1:g.329C>T, NC_000023.10:g.154444717C>T, NM_003372.6:c.-43C>T, NM_003372.5:c.-43C>T

Select item 136636432615.

rs1366364326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:155228407 (GRCh38)
X:154456689 (GRCh37)
Canonical SPDI:: NC_000023.11:155228406:C:G,NC_000023.11:155228406:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.155228407C>G, NC_000023.11:g.155228407C>T, NW_003871103.3:g.2662386C>G, NW_003871103.3:g.2662386C>T, NG_013269.2:g.36401C>G, NG_013269.2:g.36401C>T, NM_003372.7:c.309C>G, NM_003372.7:c.309C>T, NM_003372.6:c.309C>G, NM_003372.6:c.309C>T, NM_003372.5:c.309C>G, NM_003372.5:c.309C>T, NM_001303543.1:c.417C>G, NM_001303543.1:c.417C>T, NM_001303544.1:c.294C>G, NM_001303544.1:c.294C>T, NM_001303545.1:c.198C>G, NM_001303545.1:c.198C>T, NC_000023.10:g.154456689C>G, NC_000023.10:g.154456689C>T

Select item 136450319816.

rs1364503198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:155216451 (GRCh38)
X:154444728 (GRCh37)
Canonical SPDI:: NC_000023.11:155216450:C:G,NC_000023.11:155216450:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: intron_variant,missense_variant,5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000009/1 (GnomAD_exomes)
G=0.000029/3 (GnomAD)
G=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.155216451C>G, NC_000023.11:g.155216451C>T, NW_003871103.3:g.2650430C>G, NW_003871103.3:g.2650430C>T, NG_013269.2:g.24445C>G, NG_013269.2:g.24445C>T, NM_001303543.1:c.77C>G, NM_001303543.1:c.77C>T, NM_001303545.1:c.-139C>G, NM_001303545.1:c.-139C>T, NG_063204.1:g.340C>G, NG_063204.1:g.340C>T, NC_000023.10:g.154444728C>G, NC_000023.10:g.154444728C>T, NM_003372.6:c.-32C>G, NM_003372.6:c.-32C>T, NM_003372.5:c.-32C>G, NM_003372.5:c.-32C>T, NP_001290472.1:p.Pro26Arg, NP_001290472.1:p.Pro26Leu

Select item 135786331317.

rs1357863313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:155216433 (GRCh38)
X:154444710 (GRCh37)
Canonical SPDI:: NC_000023.11:155216432:A:G
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.155216433A>G, NW_003871103.3:g.2650412A>G, NG_013269.2:g.24427A>G, NM_001303543.1:c.59A>G, NM_001303545.1:c.-157A>G, NG_063204.1:g.322A>G, NC_000023.10:g.154444710A>G, NM_003372.6:c.-50A>G, NM_003372.5:c.-50A>G, NP_001290472.1:p.Asn20Ser

Select item 131261041118.

rs1312610411 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGCGGCC [Show Flanks]
Chromosome:: X:155216435 (GRCh38)
X:154444713 (GRCh37)
Canonical SPDI:: NC_000023.11:155216435:CCGGCGGCCGGCGGCC:CCGGCGGCCGGCGGCCGGCGGCC
Gene:: VBP1 (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,5_prime_UTR_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCGGCGGCCGGCGGCCGGCGGCC=0.000142/2 (ALFA)
CCGGCGG=0.00001/1 (GnomAD)
CCGGCGG=0.000011/3 (TOPMED)
CCGGCGG=0.00002/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.155216438GGCGGCC[3], NW_003871103.3:g.2650417GGCGGCC[3], NG_013269.2:g.24432GGCGGCC[3], NM_001303543.1:c.71_77dup, NM_001303545.1:c.-152GGCGGCC[3], NG_063204.1:g.327GGCGGCC[3], NC_000023.10:g.154444715GGCGGCC[3], NM_003372.6:c.-45GGCGGCC[3], NM_003372.5:c.-45GGCGGCC[3], NP_001290472.1:p.Gly27fs

Select item 129552809119.

rs1295528091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:155228427 (GRCh38)
X:154456709 (GRCh37)
Canonical SPDI:: NC_000023.11:155228426:A:C,NC_000023.11:155228426:A:G
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.155228427A>C, NC_000023.11:g.155228427A>G, NW_003871103.3:g.2662406A>C, NW_003871103.3:g.2662406A>G, NG_013269.2:g.36421A>C, NG_013269.2:g.36421A>G, NM_003372.7:c.329A>C, NM_003372.7:c.329A>G, NM_003372.6:c.329A>C, NM_003372.6:c.329A>G, NM_003372.5:c.329A>C, NM_003372.5:c.329A>G, NM_001303543.1:c.437A>C, NM_001303543.1:c.437A>G, NM_001303544.1:c.314A>C, NM_001303544.1:c.314A>G, NM_001303545.1:c.218A>C, NM_001303545.1:c.218A>G, NC_000023.10:g.154456709A>C, NC_000023.10:g.154456709A>G, NP_003363.1:p.Asn110Thr, NP_003363.1:p.Asn110Ser, NP_001290472.1:p.Asn146Thr, NP_001290472.1:p.Asn146Ser, NP_001290473.1:p.Asn105Thr, NP_001290473.1:p.Asn105Ser, NP_001290474.1:p.Asn73Thr, NP_001290474.1:p.Asn73Ser

Select item 129250785020.

rs1292507850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:155216424 (GRCh38)
X:154444701 (GRCh37)
Canonical SPDI:: NC_000023.11:155216423:A:C
Gene:: VBP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,genic_upstream_transcript_variant,upstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.155216424A>C, NW_003871103.3:g.2650403A>C, NG_013269.2:g.24418A>C, NM_001303543.1:c.50A>C, NM_001303545.1:c.-166A>C, NG_063204.1:g.313A>C, NC_000023.10:g.154444701A>C, NM_003372.6:c.-59A>C, NM_003372.5:c.-59A>C, NP_001290472.1:p.Gln17Pro

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