SNP Links for Protein (Select 311078508) - SNP

Links from Protein

Items: 1 to 20 of 217

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Select item 14882605331.

rs1488260533 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:16869086 (GRCh38)
X:16887209 (GRCh37)
Canonical SPDI:: NC_000023.11:16869085:C:T
Gene:: RBBP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16869086C>T, NC_000023.10:g.16887209C>T, NM_002893.4:c.151G>A, NM_002893.3:c.151G>A, NM_001198719.2:c.283G>A, NM_001198719.1:c.283G>A, XM_047442291.1:c.283G>A, XM_047442292.1:c.151G>A, NP_002884.1:p.Glu51Lys, NP_001185648.1:p.Glu95Lys, XP_047298247.1:p.Glu95Lys, XP_047298248.1:p.Glu51Lys

Select item 14861264382.

rs1486126438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:16869630 (GRCh38)
X:16887753 (GRCh37)
Canonical SPDI:: NC_000023.11:16869629:C:G
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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.16869630C>G, NC_000023.10:g.16887753C>G, NM_001198719.2:c.12G>C, NM_001198719.1:c.12G>C, XM_047442291.1:c.12G>C, NP_001185648.1:p.Glu4Asp, XP_047298247.1:p.Glu4Asp

Select item 14845091003.

rs1484509100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16863091 (GRCh38)
X:16881214 (GRCh37)
Canonical SPDI:: NC_000023.11:16863090:T:C
Gene:: RBBP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16863091T>C, NC_000023.10:g.16881214T>C, NM_002893.4:c.171A>G, NM_002893.3:c.171A>G, NM_001198719.2:c.303A>G, NM_001198719.1:c.303A>G, XM_047442291.1:c.303A>G, XM_047442292.1:c.171A>G

Select item 14841476394.

rs1484147639 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:16869514 (GRCh38)
X:16887637 (GRCh37)
Canonical SPDI:: NC_000023.11:16869513:G:A
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_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.16869514G>A, NC_000023.10:g.16887637G>A, NM_001198719.2:c.128C>T, NM_001198719.1:c.128C>T, XM_047442291.1:c.128C>T, NP_001185648.1:p.Thr43Ile, XP_047298247.1:p.Thr43Ile

Select item 14827799135.

rs1482779913 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16869519 (GRCh38)
X:16887642 (GRCh37)
Canonical SPDI:: NC_000023.11:16869518:T:C
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000027/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16869519T>C, NC_000023.10:g.16887642T>C, NM_001198719.2:c.123A>G, NM_001198719.1:c.123A>G, XM_047442291.1:c.123A>G

Select item 14823953916.

rs1482395391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:16869608 (GRCh38)
X:16887731 (GRCh37)
Canonical SPDI:: NC_000023.11:16869607:C:A
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.16869608C>A, NC_000023.10:g.16887731C>A, NM_001198719.2:c.34G>T, NM_001198719.1:c.34G>T, XM_047442291.1:c.34G>T, NP_001185648.1:p.Ala12Ser, XP_047298247.1:p.Ala12Ser

Select item 14817449687.

rs1481744968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: X:16863048 (GRCh38)
X:16881171 (GRCh37)
Canonical SPDI:: NC_000023.11:16863047:A:C,NC_000023.11:16863047:A:T
Gene:: RBBP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00013/2 (ALFA)
HGVS:: NC_000023.11:g.16863048A>C, NC_000023.11:g.16863048A>T, NC_000023.10:g.16881171A>C, NC_000023.10:g.16881171A>T, NM_002893.4:c.214T>G, NM_002893.4:c.214T>A, NM_002893.3:c.214T>G, NM_002893.3:c.214T>A, NM_001198719.2:c.346T>G, NM_001198719.2:c.346T>A, NM_001198719.1:c.346T>G, NM_001198719.1:c.346T>A, XM_047442291.1:c.346T>G, XM_047442291.1:c.346T>A, XM_047442292.1:c.214T>G, XM_047442292.1:c.214T>A, NP_002884.1:p.Ser72Ala, NP_002884.1:p.Ser72Thr, NP_001185648.1:p.Ser116Ala, NP_001185648.1:p.Ser116Thr, XP_047298247.1:p.Ser116Ala, XP_047298247.1:p.Ser116Thr, XP_047298248.1:p.Ser72Ala, XP_047298248.1:p.Ser72Thr

Select item 14799463308.

rs1479946330 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:16869505 (GRCh38)
X:16887628 (GRCh37)
Canonical SPDI:: NC_000023.11:16869504:T:A
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.16869505T>A, NC_000023.10:g.16887628T>A, NM_001198719.2:c.137A>T, NM_001198719.1:c.137A>T, XM_047442291.1:c.137A>T, NP_001185648.1:p.His46Leu, XP_047298247.1:p.His46Leu

Select item 14741923909.

rs1474192390 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16869158 (GRCh38)
X:16887281 (GRCh37)
Canonical SPDI:: NC_000023.11:16869157:T:C
Gene:: RBBP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.16869158T>C, NC_000023.10:g.16887281T>C, NM_002893.4:c.79A>G, NM_002893.3:c.79A>G, NM_001198719.2:c.211A>G, NM_001198719.1:c.211A>G, XM_047442291.1:c.211A>G, XM_047442292.1:c.79A>G, NP_002884.1:p.Thr27Ala, NP_001185648.1:p.Thr71Ala, XP_047298247.1:p.Thr71Ala, XP_047298248.1:p.Thr27Ala

Select item 147298077210.

rs1472980772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:16853750 (GRCh38)
X:16871873 (GRCh37)
Canonical SPDI:: NC_000023.11:16853749:C:T
Gene:: RBBP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16853750C>T, NC_000023.10:g.16871873C>T, NM_002893.4:c.690G>A, NM_002893.3:c.690G>A, NM_001198719.2:c.822G>A, NM_001198719.1:c.822G>A, XM_047442291.1:c.822G>A, XM_047442292.1:c.690G>A

Select item 147240729511.

rs1472407295 [Homo sapiens]

Variant type:: INS
Alleles:: ->TAAGCTATACCA [Show Flanks]
Chromosome:: X:16852820 (GRCh38)
X:16870944 (GRCh37)
Canonical SPDI:: NC_000023.11:16852820::TAAGCTATACCA
Gene:: RBBP7 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant
HGVS:: NC_000023.11:g.16852820_16852821insTAAGCTATACCA, NC_000023.10:g.16870943_16870944insTAAGCTATACCA, NM_002893.4:c.813_814insTGGTATAGCTTA, NM_002893.3:c.813_814insTGGTATAGCTTA, NM_001198719.2:c.945_946insTGGTATAGCTTA, NM_001198719.1:c.945_946insTGGTATAGCTTA, XM_047442291.1:c.945_946insTGGTATAGCTTA, XM_047442292.1:c.813_814insTGGTATAGCTTA, NP_002884.1:p.Thr272_Ala273insTrpTyrSerLeu, NP_001185648.1:p.Thr316_Ala317insTrpTyrSerLeu, XP_047298247.1:p.Thr316_Ala317insTrpTyrSerLeu, XP_047298248.1:p.Thr272_Ala273insTrpTyrSerLeu

Select item 147145749512.

rs1471457495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16863094 (GRCh38)
X:16881217 (GRCh37)
Canonical SPDI:: NC_000023.11:16863093:T:C
Gene:: RBBP7 (Varview)
Functional Consequence:: 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.16863094T>C, NC_000023.10:g.16881217T>C, NM_002893.4:c.168A>G, NM_002893.3:c.168A>G, NM_001198719.2:c.300A>G, NM_001198719.1:c.300A>G, XM_047442291.1:c.300A>G, XM_047442292.1:c.168A>G

Select item 146662746913.

rs1466627469 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:16863034 (GRCh38)
X:16881157 (GRCh37)
Canonical SPDI:: NC_000023.11:16863033:A:G
Gene:: RBBP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.16863034A>G, NC_000023.10:g.16881157A>G, NM_002893.4:c.228T>C, NM_002893.3:c.228T>C, NM_001198719.2:c.360T>C, NM_001198719.1:c.360T>C, XM_047442291.1:c.360T>C, XM_047442292.1:c.228T>C

Select item 146560931714.

rs1465609317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: X:16862995 (GRCh38)
X:16881118 (GRCh37)
Canonical SPDI:: NC_000023.11:16862994:A:C,NC_000023.11:16862994:A:G
Gene:: RBBP7 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.16862995A>C, NC_000023.11:g.16862995A>G, NC_000023.10:g.16881118A>C, NC_000023.10:g.16881118A>G, NM_002893.4:c.267T>G, NM_002893.4:c.267T>C, NM_002893.3:c.267T>G, NM_002893.3:c.267T>C, NM_001198719.2:c.399T>G, NM_001198719.2:c.399T>C, NM_001198719.1:c.399T>G, NM_001198719.1:c.399T>C, XM_047442291.1:c.399T>G, XM_047442291.1:c.399T>C, XM_047442292.1:c.267T>G, XM_047442292.1:c.267T>C, NP_002884.1:p.Asp89Glu, NP_001185648.1:p.Asp133Glu, XP_047298247.1:p.Asp133Glu, XP_047298248.1:p.Asp89Glu

Select item 146404586815.

rs1464045868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:16869142 (GRCh38)
X:16887265 (GRCh37)
Canonical SPDI:: NC_000023.11:16869141:T:C
Gene:: RBBP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000223/2 (ALFA)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16869142T>C, NC_000023.10:g.16887265T>C, NM_002893.4:c.95A>G, NM_002893.3:c.95A>G, NM_001198719.2:c.227A>G, NM_001198719.1:c.227A>G, XM_047442291.1:c.227A>G, XM_047442292.1:c.95A>G, NP_002884.1:p.Asp32Gly, NP_001185648.1:p.Asp76Gly, XP_047298247.1:p.Asp76Gly, XP_047298248.1:p.Asp32Gly

Select item 146399699516.

rs1463996995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:16852577 (GRCh38)
X:16870700 (GRCh37)
Canonical SPDI:: NC_000023.11:16852576:C:G
Gene:: RBBP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16852577C>G, NC_000023.10:g.16870700C>G, NM_002893.4:c.937G>C, NM_002893.3:c.937G>C, NM_001198719.2:c.1069G>C, NM_001198719.1:c.1069G>C, XM_047442291.1:c.1069G>C, XM_047442292.1:c.937G>C, NP_002884.1:p.Glu313Gln, NP_001185648.1:p.Glu357Gln, XP_047298247.1:p.Glu357Gln, XP_047298248.1:p.Glu313Gln

Select item 146161458917.

rs1461614589 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: X:16869575 (GRCh38)
X:16887698 (GRCh37)
Canonical SPDI:: NC_000023.11:16869574:A:
Gene:: RBBP7 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000009/1 (GnomAD_exomes)
-=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.16869575del, NC_000023.10:g.16887698del, NM_001198719.2:c.67del, NM_001198719.1:c.67del, XM_047442291.1:c.67del, NP_001185648.1:p.Cys23fs, XP_047298247.1:p.Cys23fs

Select item 144654364518.

rs1446543645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:16869621 (GRCh38)
X:16887744 (GRCh37)
Canonical SPDI:: NC_000023.11:16869620:G:A
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.16869621G>A, NC_000023.10:g.16887744G>A, NM_001198719.2:c.21C>T, NM_001198719.1:c.21C>T, XM_047442291.1:c.21C>T

Select item 144326104119.

rs1443261041 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:16869637 (GRCh38)
X:16887760 (GRCh37)
Canonical SPDI:: NC_000023.11:16869636:G:A
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.16869637G>A, NC_000023.10:g.16887760G>A, NM_001198719.2:c.5C>T, NM_001198719.1:c.5C>T, XM_047442291.1:c.5C>T, NP_001185648.1:p.Ala2Val, XP_047298247.1:p.Ala2Val

Select item 144174100120.

rs1441741001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:16869562 (GRCh38)
X:16887685 (GRCh37)
Canonical SPDI:: NC_000023.11:16869561:A:C
Gene:: RBBP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.16869562A>C, NC_000023.10:g.16887685A>C, NM_001198719.2:c.80T>G, NM_001198719.1:c.80T>G, XM_047442291.1:c.80T>G, NP_001185648.1:p.Leu27Arg, XP_047298247.1:p.Leu27Arg

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