SNP Links for Protein (Select 4507873) - 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 14790829892.

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 14690538193.

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 14486885564.

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 14458833025.

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 14302981686.

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 14170566687.

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 14095401058.

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 14053324959.

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 140339469510.

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 140073028711.

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 136636432612.

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 129552809113.

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 126501004514.

rs1265010045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155216540 (GRCh38)
X:154444817 (GRCh37)
Canonical SPDI:: NC_000023.11:155216539:C:T
Gene:: VBP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,missense_variant,coding_sequence_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.155216540C>T, NW_003871103.3:g.2650519C>T, NG_013269.2:g.24534C>T, NM_003372.7:c.58C>T, NM_003372.6:c.58C>T, NM_003372.5:c.58C>T, NM_001303543.1:c.166C>T, NM_001303545.1:c.-50C>T, NG_063204.1:g.429C>T, NC_000023.10:g.154444817C>T, NP_003363.1:p.Arg20Trp, NP_001290472.1:p.Arg56Trp

Select item 125574961515.

rs1255749615 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:155220223 (GRCh38)
X:154448500 (GRCh37)
Canonical SPDI:: NC_000023.11:155220222: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=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.155220223C>T, NW_003871103.3:g.2654202C>T, NG_013269.2:g.28217C>T, NM_003372.7:c.134C>T, NM_003372.6:c.134C>T, NM_003372.5:c.134C>T, NM_001303543.1:c.242C>T, NM_001303544.1:c.119C>T, NM_001303545.1:c.23C>T, NC_000023.10:g.154448500C>T, NP_003363.1:p.Thr45Ile, NP_001290472.1:p.Thr81Ile, NP_001290473.1:p.Thr40Ile, NP_001290474.1:p.Thr8Ile

Select item 121736044816.

rs1217360448 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155220272 (GRCh38)
X:154448549 (GRCh37)
Canonical SPDI:: NC_000023.11:155220271:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.155220272G>A, NW_003871103.3:g.2654251G>A, NG_013269.2:g.28266G>A, NM_003372.7:c.183G>A, NM_003372.6:c.183G>A, NM_003372.5:c.183G>A, NM_001303543.1:c.291G>A, NM_001303544.1:c.168G>A, NM_001303545.1:c.72G>A, NC_000023.10:g.154448549G>A

Select item 117128485817.

rs1171284858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:155228459 (GRCh38)
X:154456741 (GRCh37)
Canonical SPDI:: NC_000023.11:155228458:G:A
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000225/3 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000023.11:g.155228459G>A, NW_003871103.3:g.2662438G>A, NG_013269.2:g.36453G>A, NM_003372.7:c.361G>A, NM_003372.6:c.361G>A, NM_003372.5:c.361G>A, NM_001303543.1:c.469G>A, NM_001303544.1:c.346G>A, NM_001303545.1:c.250G>A, NC_000023.10:g.154456741G>A, NP_003363.1:p.Asp121Asn, NP_001290472.1:p.Asp157Asn, NP_001290473.1:p.Asp116Asn, NP_001290474.1:p.Asp84Asn

Select item 105491999618.

rs1054919996 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: X:155216563 (GRCh38)
X:154444840 (GRCh37)
Canonical SPDI:: NC_000023.11:155216562:G:A,NC_000023.11:155216562:G:C
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant,intron_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD_exomes)
C=0.000019/2 (GnomAD)
C=0.000038/10 (TOPMED)
HGVS:: NC_000023.11:g.155216563G>A, NC_000023.11:g.155216563G>C, NW_003871103.3:g.2650542G>A, NW_003871103.3:g.2650542G>C, NG_013269.2:g.24557G>A, NG_013269.2:g.24557G>C, NM_003372.7:c.81G>A, NM_003372.7:c.81G>C, NM_003372.6:c.81G>A, NM_003372.6:c.81G>C, NM_003372.5:c.81G>A, NM_003372.5:c.81G>C, NM_001303543.1:c.189G>A, NM_001303543.1:c.189G>C, NM_001303545.1:c.-27G>A, NM_001303545.1:c.-27G>C, NG_063204.1:g.452G>A, NG_063204.1:g.452G>C, NC_000023.10:g.154444840G>A, NC_000023.10:g.154444840G>C, NP_003363.1:p.Glu27Asp, NP_001290472.1:p.Glu63Asp

Select item 104343265419.

rs1043432654 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:155216488 (GRCh38)
X:154444765 (GRCh37)
Canonical SPDI:: NC_000023.11:155216487:G:T
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000017/2 (GnomAD_exomes)
T=0.000038/4 (GnomAD)
T=0.000049/13 (TOPMED)
HGVS:: NC_000023.11:g.155216488G>T, NW_003871103.3:g.2650467G>T, NG_013269.2:g.24482G>T, NM_003372.7:c.6G>T, NM_003372.6:c.6G>T, NM_003372.5:c.6G>T, NM_001303543.1:c.114G>T, NM_001303545.1:c.-102G>T, NG_063204.1:g.377G>T, NC_000023.10:g.154444765G>T

Select item 103266615920.

rs1032666159 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:155228434 (GRCh38)
X:154456716 (GRCh37)
Canonical SPDI:: NC_000023.11:155228433:T:C
Gene:: VBP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.155228434T>C, NW_003871103.3:g.2662413T>C, NG_013269.2:g.36428T>C, NM_003372.7:c.336T>C, NM_003372.6:c.336T>C, NM_003372.5:c.336T>C, NM_001303543.1:c.444T>C, NM_001303544.1:c.321T>C, NM_001303545.1:c.225T>C, NC_000023.10:g.154456716T>C

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