SNP Links for Protein (Select 22749199) - SNP

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Links from Protein

Items: 1 to 20 of 155

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Select item 14788002481.

rs1478800248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:148008654 (GRCh38)
X:147090174 (GRCh37)
Canonical SPDI:: NC_000023.11:148008653:C:T
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.148008654C>T, NC_000023.10:g.147090174C>T, NG_016349.2:g.32326C>T, NM_152578.3:c.575C>T, NM_152578.2:c.575C>T, NW_004070890.2:g.3533047C>T, NP_689791.1:p.Ala192Val

Select item 14787475922.

rs1478747592 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:148024887 (GRCh38)
X:147106407 (GRCh37)
Canonical SPDI:: NC_000023.11:148024886:A:G
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000029/3 (GnomAD)
G=0.00003/8 (TOPMED)
HGVS:: NC_000023.11:g.148024887A>G, NC_000023.10:g.147106407A>G, NG_016349.2:g.48559A>G, NM_152578.3:c.655A>G, NM_152578.2:c.655A>G, NW_004070890.2:g.3549280A>G, NP_689791.1:p.Arg219Gly

Select item 14734067503.

rs1473406750 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:148003215 (GRCh38)
X:147084735 (GRCh37)
Canonical SPDI:: NC_000023.11:148003214:G:A
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.148003215G>A, NC_000023.10:g.147084735G>A, NG_016349.2:g.26887G>A, NM_152578.3:c.292G>A, NM_152578.2:c.292G>A, NW_004070890.2:g.3527608G>A, NP_689791.1:p.Val98Met

Select item 14461658694.

rs1446165869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:148024914 (GRCh38)
X:147106434 (GRCh37)
Canonical SPDI:: NC_000023.11:148024913:T:C
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.148024914T>C, NC_000023.10:g.147106434T>C, NG_016349.2:g.48586T>C, NM_152578.3:c.682T>C, NM_152578.2:c.682T>C, NW_004070890.2:g.3549307T>C

Select item 14435784465.

rs1443578446 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:147981475 (GRCh38)
X:147062995 (GRCh37)
Canonical SPDI:: NC_000023.11:147981474:G:C
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.147981475G>C, NC_000023.10:g.147062995G>C, NG_016349.2:g.5147G>C, NM_152578.3:c.73G>C, NM_152578.2:c.73G>C, NW_004070890.2:g.3505868G>C, NP_689791.1:p.Glu25Gln

Select item 14170851166.

rs1417085116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:148003260 (GRCh38)
X:147084780 (GRCh37)
Canonical SPDI:: NC_000023.11:148003259:G:A
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.148003260G>A, NC_000023.10:g.147084780G>A, NG_016349.2:g.26932G>A, NM_152578.3:c.337G>A, NM_152578.2:c.337G>A, NW_004070890.2:g.3527653G>A, NP_689791.1:p.Gly113Ser

Select item 13951379317.

rs1395137931 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:148024891 (GRCh38)
X:147106411 (GRCh37)
Canonical SPDI:: NC_000023.11:148024890:A:G
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.148024891A>G, NC_000023.10:g.147106411A>G, NG_016349.2:g.48563A>G, NM_152578.3:c.659A>G, NM_152578.2:c.659A>G, NW_004070890.2:g.3549284A>G, NP_689791.1:p.Gln220Arg

Select item 13797612978.

rs1379761297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147981676 (GRCh38)
X:147063196 (GRCh37)
Canonical SPDI:: NC_000023.11:147981675:T:A
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.147981676T>A, NC_000023.10:g.147063196T>A, NG_016349.2:g.5348T>A, NM_152578.3:c.274T>A, NM_152578.2:c.274T>A, NW_004070890.2:g.3506069T>A, NP_689791.1:p.Ser92Thr

Select item 13367275179.

rs1336727517 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:148006819 (GRCh38)
X:147088339 (GRCh37)
Canonical SPDI:: NC_000023.11:148006818:A:G
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00007/1 (ALFA)
HGVS:: NC_000023.11:g.148006819A>G, NC_000023.10:g.147088339A>G, NG_016349.2:g.30491A>G, NM_152578.3:c.515A>G, NM_152578.2:c.515A>G, NW_004070890.2:g.3531212A>G, NP_689791.1:p.Lys172Arg

Select item 133513541910.

rs1335135419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:147981589 (GRCh38)
X:147063109 (GRCh37)
Canonical SPDI:: NC_000023.11:147981588:A:G
Gene:: FMR1NB (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.147981589A>G, NC_000023.10:g.147063109A>G, NG_016349.2:g.5261A>G, NM_152578.3:c.187A>G, NM_152578.2:c.187A>G, NW_004070890.2:g.3505982A>G, NP_689791.1:p.Met63Val

Select item 131700968911.

rs1317009689 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:147981659 (GRCh38)
X:147063179 (GRCh37)
Canonical SPDI:: NC_000023.11:147981658:T:A
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.147981659T>A, NC_000023.10:g.147063179T>A, NG_016349.2:g.5331T>A, NM_152578.3:c.257T>A, NM_152578.2:c.257T>A, NW_004070890.2:g.3506052T>A, NP_689791.1:p.Leu86Gln

Select item 128490305812.

rs1284903058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:147981677 (GRCh38)
X:147063197 (GRCh37)
Canonical SPDI:: NC_000023.11:147981676:C:A,NC_000023.11:147981676:C:T
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147981677C>A, NC_000023.11:g.147981677C>T, NC_000023.10:g.147063197C>A, NC_000023.10:g.147063197C>T, NG_016349.2:g.5349C>A, NG_016349.2:g.5349C>T, NM_152578.3:c.275C>A, NM_152578.3:c.275C>T, NM_152578.2:c.275C>A, NM_152578.2:c.275C>T, NW_004070890.2:g.3506070C>A, NW_004070890.2:g.3506070C>T, NP_689791.1:p.Ser92Tyr, NP_689791.1:p.Ser92Phe

Select item 126915092513.

rs1269150925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:148003284 (GRCh38)
X:147084804 (GRCh37)
Canonical SPDI:: NC_000023.11:148003283:G:A
Gene:: FMR1NB (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=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.148003284G>A, NC_000023.10:g.147084804G>A, NG_016349.2:g.26956G>A, NM_152578.3:c.361G>A, NM_152578.2:c.361G>A, NW_004070890.2:g.3527677G>A, NP_689791.1:p.Ala121Thr

Select item 126309151414.

rs1263091514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:147981463 (GRCh38)
X:147062983 (GRCh37)
Canonical SPDI:: NC_000023.11:147981462:G:T
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.147981463G>T, NC_000023.10:g.147062983G>T, NG_016349.2:g.5135G>T, NM_152578.3:c.61G>T, NM_152578.2:c.61G>T, NW_004070890.2:g.3505856G>T, NP_689791.1:p.Val21Leu

Select item 125958248415.

rs1259582484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:147981641 (GRCh38)
X:147063161 (GRCh37)
Canonical SPDI:: NC_000023.11:147981640:T:C
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.147981641T>C, NC_000023.10:g.147063161T>C, NG_016349.2:g.5313T>C, NM_152578.3:c.239T>C, NM_152578.2:c.239T>C, NW_004070890.2:g.3506034T>C, NP_689791.1:p.Leu80Pro

Select item 121625562616.

rs1216255626 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:148024912 (GRCh38)
X:147106432 (GRCh37)
Canonical SPDI:: NC_000023.11:148024911:G:A
Gene:: FMR1NB (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.148024912G>A, NC_000023.10:g.147106432G>A, NG_016349.2:g.48584G>A, NM_152578.3:c.680G>A, NM_152578.2:c.680G>A, NW_004070890.2:g.3549305G>A, NP_689791.1:p.Gly227Asp

Select item 120878039417.

rs1208780394 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:147981620 (GRCh38)
X:147063140 (GRCh37)
Canonical SPDI:: NC_000023.11:147981619:T:G
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.147981620T>G, NC_000023.10:g.147063140T>G, NG_016349.2:g.5292T>G, NM_152578.3:c.218T>G, NM_152578.2:c.218T>G, NW_004070890.2:g.3506013T>G, NP_689791.1:p.Met73Arg

Select item 119268504318.

rs1192685043 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:148024902 (GRCh38)
X:147106422 (GRCh37)
Canonical SPDI:: NC_000023.11:148024901:G:T
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.148024902G>T, NC_000023.10:g.147106422G>T, NG_016349.2:g.48574G>T, NM_152578.3:c.670G>T, NM_152578.2:c.670G>T, NW_004070890.2:g.3549295G>T, NP_689791.1:p.Val224Phe

Select item 119172056219.

rs1191720562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:148003294 (GRCh38)
X:147084814 (GRCh37)
Canonical SPDI:: NC_000023.11:148003293:C:T
Gene:: FMR1NB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.148003294C>T, NC_000023.10:g.147084814C>T, NG_016349.2:g.26966C>T, NM_152578.3:c.371C>T, NM_152578.2:c.371C>T, NW_004070890.2:g.3527687C>T, NP_689791.1:p.Ala124Val

Select item 117331903620.

rs1173319036 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:147981449 (GRCh38)
X:147062969 (GRCh37)
Canonical SPDI:: NC_000023.11:147981448:A:G
Gene:: FMR1NB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.147981449A>G, NC_000023.10:g.147062969A>G, NG_016349.2:g.5121A>G, NM_152578.3:c.47A>G, NM_152578.2:c.47A>G, NW_004070890.2:g.3505842A>G, NP_689791.1:p.His16Arg

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