SNP Links for Protein (Select 13899354) - SNP

Links from Protein

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Select item 14867778681.

rs1486777868 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:66676893 (GRCh38)
11:66444364 (GRCh37)
Canonical SPDI:: NC_000011.10:66676892:C:A,NC_000011.10:66676892:C:T
Gene:: RBM4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66676893C>A, NC_000011.10:g.66676893C>T, NC_000011.9:g.66444364C>A, NC_000011.9:g.66444364C>T, XR_247213.4:n.323G>T, XR_247213.4:n.323G>A, XR_247213.3:n.313G>T, XR_247213.3:n.313G>A, XR_247213.2:n.323G>T, XR_247213.2:n.323G>A, XR_247213.1:n.313G>T, XR_247213.1:n.313G>A, XR_247214.4:n.323G>T, XR_247214.4:n.323G>A, XR_247214.3:n.313G>T, XR_247214.3:n.313G>A, XR_247214.2:n.323G>T, XR_247214.2:n.323G>A, XR_247214.1:n.313G>T, XR_247214.1:n.313G>A, XM_011545297.4:c.187G>T, XM_011545297.4:c.187G>A, XM_011545297.3:c.187G>T, XM_011545297.3:c.187G>A, XM_011545297.2:c.187G>T, XM_011545297.2:c.187G>A, XM_011545297.1:c.187G>T, XM_011545297.1:c.187G>A, NM_031492.4:c.187G>T, NM_031492.4:c.187G>A, NM_031492.3:c.187G>T, NM_031492.3:c.187G>A, NM_031492.2:c.187G>T, NM_031492.2:c.187G>A, XM_017018402.3:c.187G>T, XM_017018402.3:c.187G>A, XM_017018402.2:c.187G>T, XM_017018402.2:c.187G>A, XM_017018402.1:c.187G>T, XM_017018402.1:c.187G>A, NM_001286135.2:c.187G>T, NM_001286135.2:c.187G>A, NM_001286135.1:c.187G>T, NM_001286135.1:c.187G>A, XR_007062509.1:n.323G>T, XR_007062509.1:n.323G>A, XP_011543599.1:p.Val63Leu, XP_011543599.1:p.Val63Met, NP_113680.1:p.Val63Leu, NP_113680.1:p.Val63Met, XP_016873891.1:p.Val63Leu, XP_016873891.1:p.Val63Met, NP_001273064.1:p.Val63Leu, NP_001273064.1:p.Val63Met

Select item 14861719402.

rs1486171940 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66676790 (GRCh38)
11:66444261 (GRCh37)
Canonical SPDI:: NC_000011.10:66676789:T:C
Gene:: RBM4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66676790T>C, NC_000011.9:g.66444261T>C, XR_247213.4:n.426A>G, XR_247213.3:n.416A>G, XR_247213.2:n.426A>G, XR_247213.1:n.416A>G, XR_247214.4:n.426A>G, XR_247214.3:n.416A>G, XR_247214.2:n.426A>G, XR_247214.1:n.416A>G, XM_011545297.4:c.290A>G, XM_011545297.3:c.290A>G, XM_011545297.2:c.290A>G, XM_011545297.1:c.290A>G, NM_031492.4:c.290A>G, NM_031492.3:c.290A>G, NM_031492.2:c.290A>G, XM_017018402.3:c.290A>G, XM_017018402.2:c.290A>G, XM_017018402.1:c.290A>G, NM_001286135.2:c.290A>G, NM_001286135.1:c.290A>G, XR_007062509.1:n.426A>G, XP_011543599.1:p.Lys97Arg, NP_113680.1:p.Lys97Arg, XP_016873891.1:p.Lys97Arg, NP_001273064.1:p.Lys97Arg

Select item 14858447663.

rs1485844766 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66676904 (GRCh38)
11:66444375 (GRCh37)
Canonical SPDI:: NC_000011.10:66676903:T:C
Gene:: RBM4B (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66676904T>C, NC_000011.9:g.66444375T>C, XR_247213.4:n.312A>G, XR_247213.3:n.302A>G, XR_247213.2:n.312A>G, XR_247213.1:n.302A>G, XR_247214.4:n.312A>G, XR_247214.3:n.302A>G, XR_247214.2:n.312A>G, XR_247214.1:n.302A>G, XM_011545297.4:c.176A>G, XM_011545297.3:c.176A>G, XM_011545297.2:c.176A>G, XM_011545297.1:c.176A>G, NM_031492.4:c.176A>G, NM_031492.3:c.176A>G, NM_031492.2:c.176A>G, XM_017018402.3:c.176A>G, XM_017018402.2:c.176A>G, XM_017018402.1:c.176A>G, NM_001286135.2:c.176A>G, NM_001286135.1:c.176A>G, XR_007062509.1:n.312A>G, XP_011543599.1:p.Lys59Arg, NP_113680.1:p.Lys59Arg, XP_016873891.1:p.Lys59Arg, NP_001273064.1:p.Lys59Arg

Select item 14856293954.

rs1485629395 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATAGCAGCTGAAGTGGCAGCAGC>-,CATAGCAGCTGAAGTGGCAGCAGCCATAGCAGCTGAAGTGGCAGCAGC [Show Flanks]
Chromosome:: 11:66668840 (GRCh38)
11:66436311 (GRCh37)
Canonical SPDI:: NC_000011.10:66668831:GCAGCAGCCATAGCAGCTGAAGTGGCAGCAGC:GCAGCAGC,NC_000011.10:66668831:GCAGCAGCCATAGCAGCTGAAGTGGCAGCAGC:GCAGCAGCCATAGCAGCTGAAGTGGCAGCAGCCATAGCAGCTGAAGTGGCAGCAGC
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion,non_coding_transcript_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
GCAGCAGCCATAGCAGCTGAAGTG=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.66668840_66668863del, NC_000011.10:g.66668840_66668863dup, NC_000011.9:g.66436311_66436334del, NC_000011.9:g.66436311_66436334dup, XR_247213.4:n.985_1008del, XR_247213.4:n.985_1008dup, XR_247213.3:n.975_998del, XR_247213.3:n.975_998dup, XR_247213.2:n.985_1008del, XR_247213.2:n.985_1008dup, XR_247213.1:n.975_998del, XR_247213.1:n.975_998dup, XR_247214.4:n.985_1008del, XR_247214.4:n.985_1008dup, XR_247214.3:n.975_998del, XR_247214.3:n.975_998dup, XR_247214.2:n.985_1008del, XR_247214.2:n.985_1008dup, XR_247214.1:n.975_998del, XR_247214.1:n.975_998dup, XM_011545297.4:c.849_872del, XM_011545297.4:c.849_872dup, XM_011545297.3:c.849_872del, XM_011545297.3:c.849_872dup, XM_011545297.2:c.849_872del, XM_011545297.2:c.849_872dup, XM_011545297.1:c.849_872del, XM_011545297.1:c.849_872dup, NM_031492.4:c.849_872del, NM_031492.4:c.849_872dup, NM_031492.3:c.849_872del, NM_031492.3:c.849_872dup, NM_031492.2:c.849_872del, NM_031492.2:c.849_872dup, XM_017018402.3:c.849_872del, XM_017018402.3:c.849_872dup, XM_017018402.2:c.849_872del, XM_017018402.2:c.849_872dup, XM_017018402.1:c.849_872del, XM_017018402.1:c.849_872dup, XR_007062509.1:n.985_1008del, XR_007062509.1:n.985_1008dup, XP_011543599.1:p.Thr284_Ala291del, XP_011543599.1:p.Thr284_Ala291dup, NP_113680.1:p.Thr284_Ala291del, NP_113680.1:p.Thr284_Ala291dup, XP_016873891.1:p.Thr284_Ala291del, XP_016873891.1:p.Thr284_Ala291dup

Select item 14846298795.

rs1484629879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66669074 (GRCh38)
11:66436545 (GRCh37)
Canonical SPDI:: NC_000011.10:66669073:A:G
Gene:: RBM4B (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66669074A>G, NC_000011.9:g.66436545A>G, XR_247213.4:n.766T>C, XR_247213.3:n.756T>C, XR_247213.2:n.766T>C, XR_247213.1:n.756T>C, XR_247214.4:n.766T>C, XR_247214.3:n.756T>C, XR_247214.2:n.766T>C, XR_247214.1:n.756T>C, XM_011545297.4:c.630T>C, XM_011545297.3:c.630T>C, XM_011545297.2:c.630T>C, XM_011545297.1:c.630T>C, NM_031492.4:c.630T>C, NM_031492.3:c.630T>C, NM_031492.2:c.630T>C, XM_017018402.3:c.630T>C, XM_017018402.2:c.630T>C, XM_017018402.1:c.630T>C, XR_007062509.1:n.766T>C

Select item 14818861316.

rs1481886131 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66668835 (GRCh38)
11:66436306 (GRCh37)
Canonical SPDI:: NC_000011.10:66668834:G:C
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.0038/7 (Korea1K)
HGVS:: NC_000011.10:g.66668835G>C, NC_000011.9:g.66436306G>C, XR_247213.4:n.1005C>G, XR_247213.3:n.995C>G, XR_247213.2:n.1005C>G, XR_247213.1:n.995C>G, XR_247214.4:n.1005C>G, XR_247214.3:n.995C>G, XR_247214.2:n.1005C>G, XR_247214.1:n.995C>G, XM_011545297.4:c.869C>G, XM_011545297.3:c.869C>G, XM_011545297.2:c.869C>G, XM_011545297.1:c.869C>G, NM_031492.4:c.869C>G, NM_031492.3:c.869C>G, NM_031492.2:c.869C>G, XM_017018402.3:c.869C>G, XM_017018402.2:c.869C>G, XM_017018402.1:c.869C>G, XR_007062509.1:n.1005C>G, XP_011543599.1:p.Ala290Gly, NP_113680.1:p.Ala290Gly, XP_016873891.1:p.Ala290Gly

Select item 14789172407.

rs1478917240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:66668845 (GRCh38)
11:66436316 (GRCh37)
Canonical SPDI:: NC_000011.10:66668844:C:G
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66668845C>G, NC_000011.9:g.66436316C>G, XR_247213.4:n.995G>C, XR_247213.3:n.985G>C, XR_247213.2:n.995G>C, XR_247213.1:n.985G>C, XR_247214.4:n.995G>C, XR_247214.3:n.985G>C, XR_247214.2:n.995G>C, XR_247214.1:n.985G>C, XM_011545297.4:c.859G>C, XM_011545297.3:c.859G>C, XM_011545297.2:c.859G>C, XM_011545297.1:c.859G>C, NM_031492.4:c.859G>C, NM_031492.3:c.859G>C, NM_031492.2:c.859G>C, XM_017018402.3:c.859G>C, XM_017018402.2:c.859G>C, XM_017018402.1:c.859G>C, XR_007062509.1:n.995G>C, XP_011543599.1:p.Ala287Pro, NP_113680.1:p.Ala287Pro, XP_016873891.1:p.Ala287Pro

Select item 14766597618.

rs1476659761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:66669278 (GRCh38)
11:66436749 (GRCh37)
Canonical SPDI:: NC_000011.10:66669277:A:C
Gene:: RBM4B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66669278A>C, NC_000011.9:g.66436749A>C, XR_247213.4:n.562T>G, XR_247213.3:n.552T>G, XR_247213.2:n.562T>G, XR_247213.1:n.552T>G, XR_247214.4:n.562T>G, XR_247214.3:n.552T>G, XR_247214.2:n.562T>G, XR_247214.1:n.552T>G, XM_011545297.4:c.426T>G, XM_011545297.3:c.426T>G, XM_011545297.2:c.426T>G, XM_011545297.1:c.426T>G, NM_031492.4:c.426T>G, NM_031492.3:c.426T>G, NM_031492.2:c.426T>G, XM_017018402.3:c.426T>G, XM_017018402.2:c.426T>G, XM_017018402.1:c.426T>G, XR_007062509.1:n.562T>G, XP_011543599.1:p.His142Gln, NP_113680.1:p.His142Gln, XP_016873891.1:p.His142Gln

Select item 14762596529.

rs1476259652 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66669033 (GRCh38)
11:66436504 (GRCh37)
Canonical SPDI:: NC_000011.10:66669032:T:C
Gene:: RBM4B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66669033T>C, NC_000011.9:g.66436504T>C, XR_247213.4:n.807A>G, XR_247213.3:n.797A>G, XR_247213.2:n.807A>G, XR_247213.1:n.797A>G, XR_247214.4:n.807A>G, XR_247214.3:n.797A>G, XR_247214.2:n.807A>G, XR_247214.1:n.797A>G, XM_011545297.4:c.671A>G, XM_011545297.3:c.671A>G, XM_011545297.2:c.671A>G, XM_011545297.1:c.671A>G, NM_031492.4:c.671A>G, NM_031492.3:c.671A>G, NM_031492.2:c.671A>G, XM_017018402.3:c.671A>G, XM_017018402.2:c.671A>G, XM_017018402.1:c.671A>G, XR_007062509.1:n.807A>G, XP_011543599.1:p.Tyr224Cys, NP_113680.1:p.Tyr224Cys, XP_016873891.1:p.Tyr224Cys

Select item 147502619810.

rs1475026198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66677013 (GRCh38)
11:66444484 (GRCh37)
Canonical SPDI:: NC_000011.10:66677012:C:A
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66677013C>A, NC_000011.9:g.66444484C>A, XR_247213.4:n.203G>T, XR_247213.3:n.193G>T, XR_247213.2:n.203G>T, XR_247213.1:n.193G>T, XR_247214.4:n.203G>T, XR_247214.3:n.193G>T, XR_247214.2:n.203G>T, XR_247214.1:n.193G>T, XM_011545297.4:c.67G>T, XM_011545297.3:c.67G>T, XM_011545297.2:c.67G>T, XM_011545297.1:c.67G>T, NM_031492.4:c.67G>T, NM_031492.3:c.67G>T, NM_031492.2:c.67G>T, XM_017018402.3:c.67G>T, XM_017018402.2:c.67G>T, XM_017018402.1:c.67G>T, NM_001286135.2:c.67G>T, NM_001286135.1:c.67G>T, XR_007062509.1:n.203G>T, XP_011543599.1:p.Glu23Ter, NP_113680.1:p.Glu23Ter, XP_016873891.1:p.Glu23Ter, NP_001273064.1:p.Glu23Ter

Select item 147456144311.

rs1474561443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66668773 (GRCh38)
11:66436244 (GRCh37)
Canonical SPDI:: NC_000011.10:66668772:C:A
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000011.10:g.66668773C>A, NC_000011.9:g.66436244C>A, XR_247213.4:n.1067G>T, XR_247213.3:n.1057G>T, XR_247213.2:n.1067G>T, XR_247213.1:n.1057G>T, XR_247214.4:n.1067G>T, XR_247214.3:n.1057G>T, XR_247214.2:n.1067G>T, XR_247214.1:n.1057G>T, XM_011545297.4:c.931G>T, XM_011545297.3:c.931G>T, XM_011545297.2:c.931G>T, XM_011545297.1:c.931G>T, NM_031492.4:c.931G>T, NM_031492.3:c.931G>T, NM_031492.2:c.931G>T, XM_017018402.3:c.931G>T, XM_017018402.2:c.931G>T, XM_017018402.1:c.931G>T, XR_007062509.1:n.1067G>T, XP_011543599.1:p.Ala311Ser, NP_113680.1:p.Ala311Ser, XP_016873891.1:p.Ala311Ser

Select item 147339622012.

rs1473396220 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66668708 (GRCh38)
11:66436179 (GRCh37)
Canonical SPDI:: NC_000011.10:66668707:G:A
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000035/1 (TOMMO)
A=0.00005/7 (GnomAD)
HGVS:: NC_000011.10:g.66668708G>A, NC_000011.9:g.66436179G>A, XR_247213.4:n.1132C>T, XR_247213.3:n.1122C>T, XR_247213.2:n.1132C>T, XR_247213.1:n.1122C>T, XR_247214.4:n.1132C>T, XR_247214.3:n.1122C>T, XR_247214.2:n.1132C>T, XR_247214.1:n.1122C>T, XM_011545297.4:c.996C>T, XM_011545297.3:c.996C>T, XM_011545297.2:c.996C>T, XM_011545297.1:c.996C>T, NM_031492.4:c.996C>T, NM_031492.3:c.996C>T, NM_031492.2:c.996C>T, XM_017018402.3:c.996C>T, XM_017018402.2:c.996C>T, XM_017018402.1:c.996C>T, XR_007062509.1:n.1132C>T

Select item 147138881113.

rs1471388811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66668782 (GRCh38)
11:66436253 (GRCh37)
Canonical SPDI:: NC_000011.10:66668781:G:A
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.66668782G>A, NC_000011.9:g.66436253G>A, XR_247213.4:n.1058C>T, XR_247213.3:n.1048C>T, XR_247213.2:n.1058C>T, XR_247213.1:n.1048C>T, XR_247214.4:n.1058C>T, XR_247214.3:n.1048C>T, XR_247214.2:n.1058C>T, XR_247214.1:n.1048C>T, XM_011545297.4:c.922C>T, XM_011545297.3:c.922C>T, XM_011545297.2:c.922C>T, XM_011545297.1:c.922C>T, NM_031492.4:c.922C>T, NM_031492.3:c.922C>T, NM_031492.2:c.922C>T, XM_017018402.3:c.922C>T, XM_017018402.2:c.922C>T, XM_017018402.1:c.922C>T, XR_007062509.1:n.1058C>T, XP_011543599.1:p.Arg308Cys, NP_113680.1:p.Arg308Cys, XP_016873891.1:p.Arg308Cys

Select item 146969605014.

rs1469696050 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66676693 (GRCh38)
11:66444164 (GRCh37)
Canonical SPDI:: NC_000011.10:66676692:C:T
Gene:: RBM4B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.66676693C>T, NC_000011.9:g.66444164C>T, XR_247213.4:n.523G>A, XR_247213.3:n.513G>A, XR_247213.2:n.523G>A, XR_247213.1:n.513G>A, XR_247214.4:n.523G>A, XR_247214.3:n.513G>A, XR_247214.2:n.523G>A, XR_247214.1:n.513G>A, XM_011545297.4:c.387G>A, XM_011545297.3:c.387G>A, XM_011545297.2:c.387G>A, XM_011545297.1:c.387G>A, NM_031492.4:c.387G>A, NM_031492.3:c.387G>A, NM_031492.2:c.387G>A, XM_017018402.3:c.387G>A, XM_017018402.2:c.387G>A, XM_017018402.1:c.387G>A, NM_001286135.2:c.387G>A, NM_001286135.1:c.387G>A, XR_007062509.1:n.523G>A

Select item 146746078415.

rs1467460784 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:66677064 (GRCh38)
11:66444535 (GRCh37)
Canonical SPDI:: NC_000011.10:66677063:T:A
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66677064T>A, NC_000011.9:g.66444535T>A, XR_247213.4:n.152A>T, XR_247213.3:n.142A>T, XR_247213.2:n.152A>T, XR_247213.1:n.142A>T, XR_247214.4:n.152A>T, XR_247214.3:n.142A>T, XR_247214.2:n.152A>T, XR_247214.1:n.142A>T, XM_011545297.4:c.16A>T, XM_011545297.3:c.16A>T, XM_011545297.2:c.16A>T, XM_011545297.1:c.16A>T, NM_031492.4:c.16A>T, NM_031492.3:c.16A>T, NM_031492.2:c.16A>T, XM_017018402.3:c.16A>T, XM_017018402.2:c.16A>T, XM_017018402.1:c.16A>T, NM_001286135.2:c.16A>T, NM_001286135.1:c.16A>T, XR_007062509.1:n.152A>T, XP_011543599.1:p.Ile6Phe, NP_113680.1:p.Ile6Phe, XP_016873891.1:p.Ile6Phe, NP_001273064.1:p.Ile6Phe

Select item 146745924916.

rs1467459249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66669248 (GRCh38)
11:66436719 (GRCh37)
Canonical SPDI:: NC_000011.10:66669247:A:G
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66669248A>G, NC_000011.9:g.66436719A>G, XR_247213.4:n.592T>C, XR_247213.3:n.582T>C, XR_247213.2:n.592T>C, XR_247213.1:n.582T>C, XR_247214.4:n.592T>C, XR_247214.3:n.582T>C, XR_247214.2:n.592T>C, XR_247214.1:n.582T>C, XM_011545297.4:c.456T>C, XM_011545297.3:c.456T>C, XM_011545297.2:c.456T>C, XM_011545297.1:c.456T>C, NM_031492.4:c.456T>C, NM_031492.3:c.456T>C, NM_031492.2:c.456T>C, XM_017018402.3:c.456T>C, XM_017018402.2:c.456T>C, XM_017018402.1:c.456T>C, XR_007062509.1:n.592T>C

Select item 146699701517.

rs1466997015 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66668788 (GRCh38)
11:66436259 (GRCh37)
Canonical SPDI:: NC_000011.10:66668787:G:T
Gene:: RBM4 (Varview), RBM4B (Varview)
Functional Consequence:: 500B_downstream_variant,missense_variant,non_coding_transcript_variant,downstream_transcript_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66668788G>T, NC_000011.9:g.66436259G>T, XR_247213.4:n.1052C>A, XR_247213.3:n.1042C>A, XR_247213.2:n.1052C>A, XR_247213.1:n.1042C>A, XR_247214.4:n.1052C>A, XR_247214.3:n.1042C>A, XR_247214.2:n.1052C>A, XR_247214.1:n.1042C>A, XM_011545297.4:c.916C>A, XM_011545297.3:c.916C>A, XM_011545297.2:c.916C>A, XM_011545297.1:c.916C>A, NM_031492.4:c.916C>A, NM_031492.3:c.916C>A, NM_031492.2:c.916C>A, XM_017018402.3:c.916C>A, XM_017018402.2:c.916C>A, XM_017018402.1:c.916C>A, XR_007062509.1:n.1052C>A, XP_011543599.1:p.Leu306Met, NP_113680.1:p.Leu306Met, XP_016873891.1:p.Leu306Met

Select item 146694707118.

rs1466947071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66669260 (GRCh38)
11:66436731 (GRCh37)
Canonical SPDI:: NC_000011.10:66669259:G:A
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66669260G>A, NC_000011.9:g.66436731G>A, XR_247213.4:n.580C>T, XR_247213.3:n.570C>T, XR_247213.2:n.580C>T, XR_247213.1:n.570C>T, XR_247214.4:n.580C>T, XR_247214.3:n.570C>T, XR_247214.2:n.580C>T, XR_247214.1:n.570C>T, XM_011545297.4:c.444C>T, XM_011545297.3:c.444C>T, XM_011545297.2:c.444C>T, XM_011545297.1:c.444C>T, NM_031492.4:c.444C>T, NM_031492.3:c.444C>T, NM_031492.2:c.444C>T, XM_017018402.3:c.444C>T, XM_017018402.2:c.444C>T, XM_017018402.1:c.444C>T, XR_007062509.1:n.580C>T

Select item 146665940919.

rs1466659409 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66669220 (GRCh38)
11:66436691 (GRCh37)
Canonical SPDI:: NC_000011.10:66669219:A:G
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66669220A>G, NC_000011.9:g.66436691A>G, XR_247213.4:n.620T>C, XR_247213.3:n.610T>C, XR_247213.2:n.620T>C, XR_247213.1:n.610T>C, XR_247214.4:n.620T>C, XR_247214.3:n.610T>C, XR_247214.2:n.620T>C, XR_247214.1:n.610T>C, XM_011545297.4:c.484T>C, XM_011545297.3:c.484T>C, XM_011545297.2:c.484T>C, XM_011545297.1:c.484T>C, NM_031492.4:c.484T>C, NM_031492.3:c.484T>C, NM_031492.2:c.484T>C, XM_017018402.3:c.484T>C, XM_017018402.2:c.484T>C, XM_017018402.1:c.484T>C, XR_007062509.1:n.620T>C, XP_011543599.1:p.Cys162Arg, NP_113680.1:p.Cys162Arg, XP_016873891.1:p.Cys162Arg

Select item 146349724120.

rs1463497241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66668974 (GRCh38)
11:66436445 (GRCh37)
Canonical SPDI:: NC_000011.10:66668973:C:T
Gene:: RBM4B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.66668974C>T, NC_000011.9:g.66436445C>T, XR_247213.4:n.866G>A, XR_247213.3:n.856G>A, XR_247213.2:n.866G>A, XR_247213.1:n.856G>A, XR_247214.4:n.866G>A, XR_247214.3:n.856G>A, XR_247214.2:n.866G>A, XR_247214.1:n.856G>A, XM_011545297.4:c.730G>A, XM_011545297.3:c.730G>A, XM_011545297.2:c.730G>A, XM_011545297.1:c.730G>A, NM_031492.4:c.730G>A, NM_031492.3:c.730G>A, NM_031492.2:c.730G>A, XM_017018402.3:c.730G>A, XM_017018402.2:c.730G>A, XM_017018402.1:c.730G>A, XR_007062509.1:n.866G>A, XP_011543599.1:p.Ala244Thr, NP_113680.1:p.Ala244Thr, XP_016873891.1:p.Ala244Thr

dbSNP

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