SNP Links for Protein (Select 258645150) - SNP

Links from Protein

Items: 1 to 20 of 135

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Select item 14889640891.

rs1488964089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:136875328 (GRCh38)
X:135957487 (GRCh37)
Canonical SPDI:: NC_000023.11:136875327:G:A,NC_000023.11:136875327:G:T
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136875328G>A, NC_000023.11:g.136875328G>T, NC_000023.10:g.135957487G>A, NC_000023.10:g.135957487G>T, NG_012918.1:g.10453C>T, NG_012918.1:g.10453C>A, NM_002139.4:c.712C>T, NM_002139.4:c.712C>A, NM_002139.3:c.712C>T, NM_002139.3:c.712C>A, NR_028477.2:n.902C>T, NR_028477.2:n.902C>A, NR_028477.1:n.957C>T, NR_028477.1:n.957C>A, NM_001164803.2:c.387C>T, NM_001164803.2:c.387C>A, NM_001164803.1:c.387C>T, NM_001164803.1:c.387C>A, NR_028476.2:n.695C>T, NR_028476.2:n.695C>A, NR_028476.1:n.750C>T, NR_028476.1:n.750C>A, NP_002130.2:p.Pro238Ser, NP_002130.2:p.Pro238Thr, NP_001158275.1:p.His129Gln

Select item 14881767382.

rs1488176738 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136872333 (GRCh38)
X:135954492 (GRCh37)
Canonical SPDI:: NC_000023.11:136872332:C:T
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136872333C>T, NC_000023.10:g.135954492C>T, NG_012918.1:g.13448G>A, NM_001164803.2:c.553G>A, NM_001164803.1:c.553G>A, NP_001158275.1:p.Ala185Thr

Select item 14852122023.

rs1485212202 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136875481 (GRCh38)
X:135957640 (GRCh37)
Canonical SPDI:: NC_000023.11:136875480:T:C
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_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.136875481T>C, NC_000023.10:g.135957640T>C, NG_012918.1:g.10300A>G, NM_002139.4:c.646A>G, NM_002139.3:c.646A>G, NR_028477.2:n.836A>G, NR_028477.1:n.891A>G, NM_001164803.2:c.321A>G, NM_001164803.1:c.321A>G, NR_028476.2:n.629A>G, NR_028476.1:n.684A>G, NP_002130.2:p.Thr216Ala

Select item 14815246504.

rs1481524650 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:136872320 (GRCh38)
X:135954479 (GRCh37)
Canonical SPDI:: NC_000023.11:136872319:C:A,NC_000023.11:136872319:C:T
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000017/2 (GnomAD_exomes)
T=0.000019/2 (GnomAD)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.136872320C>A, NC_000023.11:g.136872320C>T, NC_000023.10:g.135954479C>A, NC_000023.10:g.135954479C>T, NG_012918.1:g.13461G>T, NG_012918.1:g.13461G>A, NM_001164803.2:c.566G>T, NM_001164803.2:c.566G>A, NM_001164803.1:c.566G>T, NM_001164803.1:c.566G>A, NP_001158275.1:p.Arg189Leu, NP_001158275.1:p.Arg189His

Select item 14659450745.

rs1465945074 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136879083 (GRCh38)
X:135961242 (GRCh37)
Canonical SPDI:: NC_000023.11:136879082:T:C
Gene:: SNORD61 (Varview), RBMX (Varview)
Functional Consequence:: non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136879083T>C, NC_000023.10:g.135961242T>C, NG_012918.1:g.6698A>G, NM_002139.4:c.150A>G, NM_002139.3:c.150A>G, NR_028477.2:n.340A>G, NR_028477.1:n.395A>G, NM_001164803.2:c.150A>G, NM_001164803.1:c.150A>G, NR_028476.2:n.305A>G, NR_028476.1:n.360A>G

Select item 14485903616.

rs1448590361 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:136875496 (GRCh38)
X:135957655 (GRCh37)
Canonical SPDI:: NC_000023.11:136875495:C:G
Gene:: RBMX (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875496C>G, NC_000023.10:g.135957655C>G, NG_012918.1:g.10285G>C, NM_002139.4:c.631G>C, NM_002139.3:c.631G>C, NR_028477.2:n.821G>C, NR_028477.1:n.876G>C, NM_001164803.2:c.306G>C, NM_001164803.1:c.306G>C, NR_028476.2:n.614G>C, NR_028476.1:n.669G>C, NP_002130.2:p.Asp211His, NP_001158275.1:p.Glu102Asp

Select item 14413961387.

rs1441396138 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136872336 (GRCh38)
X:135954495 (GRCh37)
Canonical SPDI:: NC_000023.11:136872335:A:G
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_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.136872336A>G, NC_000023.10:g.135954495A>G, NG_012918.1:g.13445T>C, NM_001164803.2:c.550T>C, NM_001164803.1:c.550T>C, NP_001158275.1:p.Phe184Leu

Select item 14410241248.

rs1441024124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136875504 (GRCh38)
X:135957663 (GRCh37)
Canonical SPDI:: NC_000023.11:136875503:G:A
Gene:: RBMX (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875504G>A, NC_000023.10:g.135957663G>A, NG_012918.1:g.10277C>T, NM_002139.4:c.623C>T, NM_002139.3:c.623C>T, NR_028477.2:n.813C>T, NR_028477.1:n.868C>T, NM_001164803.2:c.298C>T, NM_001164803.1:c.298C>T, NR_028476.2:n.606C>T, NR_028476.1:n.661C>T, NP_002130.2:p.Ser208Phe, NP_001158275.1:p.Pro100Ser

Select item 14050145179.

rs1405014517 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136875582 (GRCh38)
X:135957741 (GRCh37)
Canonical SPDI:: NC_000023.11:136875581:G:A
Gene:: RBMX (Varview)
Functional Consequence:: synonymous_variant,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=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136875582G>A, NC_000023.10:g.135957741G>A, NG_012918.1:g.10199C>T, NM_002139.4:c.545C>T, NM_002139.3:c.545C>T, NR_028477.2:n.735C>T, NR_028477.1:n.790C>T, NM_001164803.2:c.220C>T, NM_001164803.1:c.220C>T, NR_028476.2:n.528C>T, NR_028476.1:n.583C>T, NP_002130.2:p.Pro182Leu

Select item 139763555710.

rs1397635557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:136875488 (GRCh38)
X:135957647 (GRCh37)
Canonical SPDI:: NC_000023.11:136875487:C:T
Gene:: RBMX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.136875488C>T, NC_000023.10:g.135957647C>T, NG_012918.1:g.10293G>A, NM_002139.4:c.639G>A, NM_002139.3:c.639G>A, NR_028477.2:n.829G>A, NR_028477.1:n.884G>A, NM_001164803.2:c.314G>A, NM_001164803.1:c.314G>A, NR_028476.2:n.622G>A, NR_028476.1:n.677G>A, NP_001158275.1:p.Gly105Asp

Select item 139380975911.

rs1393809759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136879065 (GRCh38)
X:135961224 (GRCh37)
Canonical SPDI:: NC_000023.11:136879064:A:G
Gene:: SNORD61 (Varview), RBMX (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,synonymous_variant,coding_sequence_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136879065A>G, NC_000023.10:g.135961224A>G, NG_012918.1:g.6716T>C, NM_002139.4:c.168T>C, NM_002139.3:c.168T>C, NR_028477.2:n.358T>C, NR_028477.1:n.413T>C, NM_001164803.2:c.168T>C, NM_001164803.1:c.168T>C, NR_028476.2:n.323T>C, NR_028476.1:n.378T>C

Select item 139324100112.

rs1393241001 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:136875364 (GRCh38)
X:135957523 (GRCh37)
Canonical SPDI:: NC_000023.11:136875363:G:A
Gene:: RBMX (Varview)
Functional Consequence:: missense_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000023.11:g.136875364G>A, NC_000023.10:g.135957523G>A, NG_012918.1:g.10417C>T, NM_002139.4:c.676C>T, NM_002139.3:c.676C>T, NR_028477.2:n.866C>T, NR_028477.1:n.921C>T, NM_001164803.2:c.351C>T, NM_001164803.1:c.351C>T, NR_028476.2:n.659C>T, NR_028476.1:n.714C>T, NP_002130.2:p.Pro226Ser

Select item 136968554913.

rs1369685549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:136875502 (GRCh38)
X:135957661 (GRCh37)
Canonical SPDI:: NC_000023.11:136875501:G:C
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875502G>C, NC_000023.10:g.135957661G>C, NG_012918.1:g.10279C>G, NM_002139.4:c.625C>G, NM_002139.3:c.625C>G, NR_028477.2:n.815C>G, NR_028477.1:n.870C>G, NM_001164803.2:c.300C>G, NM_001164803.1:c.300C>G, NR_028476.2:n.608C>G, NR_028476.1:n.663C>G, NP_002130.2:p.Pro209Ala

Select item 135773172114.

rs1357731721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:136875316 (GRCh38)
X:135957475 (GRCh37)
Canonical SPDI:: NC_000023.11:136875315:T:G
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875316T>G, NC_000023.10:g.135957475T>G, NG_012918.1:g.10465A>C, NM_002139.4:c.724A>C, NM_002139.3:c.724A>C, NR_028477.2:n.914A>C, NR_028477.1:n.969A>C, NM_001164803.2:c.399A>C, NM_001164803.1:c.399A>C, NR_028476.2:n.707A>C, NR_028476.1:n.762A>C, NP_002130.2:p.Thr242Pro

Select item 135083157315.

rs1350831573 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136875335 (GRCh38)
X:135957494 (GRCh37)
Canonical SPDI:: NC_000023.11:136875334:T:C
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875335T>C, NC_000023.10:g.135957494T>C, NG_012918.1:g.10446A>G, NM_002139.4:c.705A>G, NM_002139.3:c.705A>G, NR_028477.2:n.895A>G, NR_028477.1:n.950A>G, NM_001164803.2:c.380A>G, NM_001164803.1:c.380A>G, NR_028476.2:n.688A>G, NR_028476.1:n.743A>G, NP_001158275.1:p.His127Arg

Select item 134210781616.

rs1342107816 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136879332 (GRCh38)
X:135961491 (GRCh37)
Canonical SPDI:: NC_000023.11:136879331:T:C
Gene:: SNORD61 (Varview), RBMX (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136879332T>C, NC_000023.10:g.135961491T>C, NG_012918.1:g.6449A>G, NM_002139.4:c.96A>G, NM_002139.3:c.96A>G, NR_028477.2:n.251A>G, NR_028477.1:n.306A>G, NM_001164803.2:c.96A>G, NM_001164803.1:c.96A>G, NR_028476.2:n.251A>G, NR_028476.1:n.306A>G

Select item 133942035517.

rs1339420355 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136872305 (GRCh38)
X:135954464 (GRCh37)
Canonical SPDI:: NC_000023.11:136872304:T:C
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.00001/1 (GnomAD)
C=0.000026/3 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136872305T>C, NC_000023.10:g.135954464T>C, NG_012918.1:g.13476A>G, NM_001164803.2:c.581A>G, NM_001164803.1:c.581A>G, NP_001158275.1:p.Asp194Gly

Select item 133311334718.

rs1333113347 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:136875105 (GRCh38)
X:135957264 (GRCh37)
Canonical SPDI:: NC_000023.11:136875104:T:C
Gene:: RBMX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.136875105T>C, NC_000023.10:g.135957264T>C, NG_012918.1:g.10676A>G, NM_002139.4:c.846A>G, NM_002139.3:c.846A>G, NR_028477.2:n.1036A>G, NR_028477.1:n.1091A>G, NM_001164803.2:c.521A>G, NM_001164803.1:c.521A>G, NR_028476.2:n.829A>G, NR_028476.1:n.884A>G, NP_001158275.1:p.Glu174Gly

Select item 132554379219.

rs1325543792 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:136875111 (GRCh38)
X:135957270 (GRCh37)
Canonical SPDI:: NC_000023.11:136875110:G:C
Gene:: RBMX (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.136875111G>C, NC_000023.10:g.135957270G>C, NG_012918.1:g.10670C>G, NM_002139.4:c.840C>G, NM_002139.3:c.840C>G, NR_028477.2:n.1030C>G, NR_028477.1:n.1085C>G, NM_001164803.2:c.515C>G, NM_001164803.1:c.515C>G, NR_028476.2:n.823C>G, NR_028476.1:n.878C>G, NP_001158275.1:p.Pro172Arg

Select item 129590560620.

rs1295905606 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:136875159 (GRCh38)
X:135957318 (GRCh37)
Canonical SPDI:: NC_000023.11:136875158:A:G
Gene:: RBMX (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00045/2 (ALFA)
G=0.00009/1 (TOMMO)
HGVS:: NC_000023.11:g.136875159A>G, NC_000023.10:g.135957318A>G, NG_012918.1:g.10622T>C, NM_002139.4:c.792T>C, NM_002139.3:c.792T>C, NR_028477.2:n.982T>C, NR_028477.1:n.1037T>C, NM_001164803.2:c.467T>C, NM_001164803.1:c.467T>C, NR_028476.2:n.775T>C, NR_028476.1:n.830T>C, NP_001158275.1:p.Met156Thr

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