SNP Links for Protein (Select 5803137) - SNP

Links from Protein

Items: 1 to 20 of 81

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Select item 14696420681.

rs1469642068 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48576363 (GRCh38)
X:48434751 (GRCh37)
Canonical SPDI:: NC_000023.11:48576362:G:A
Gene:: RBM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48576363G>A, NC_000023.10:g.48434751G>A, NW_004070880.2:g.815792G>A, NM_006743.5:c.260G>A, NM_006743.4:c.260G>A, NM_001017430.1:c.*256G>A, NM_001017431.1:c.153G>A, NP_006734.1:p.Arg87Gln

Select item 14601832192.

rs1460183219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:48576392 (GRCh38)
X:48434780 (GRCh37)
Canonical SPDI:: NC_000023.11:48576391:C:G,NC_000023.11:48576391:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48576392C>G, NC_000023.11:g.48576392C>T, NC_000023.10:g.48434780C>G, NC_000023.10:g.48434780C>T, NW_004070880.2:g.815821C>G, NW_004070880.2:g.815821C>T, NM_006743.5:c.289C>G, NM_006743.5:c.289C>T, NM_006743.4:c.289C>G, NM_006743.4:c.289C>T, NM_001017430.1:c.*285C>G, NM_001017430.1:c.*285C>T, NM_001017431.1:c.182C>G, NM_001017431.1:c.182C>T, NP_006734.1:p.His97Asp, NP_006734.1:p.His97Tyr

Select item 14582235903.

rs1458223590 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48576326 (GRCh38)
X:48434714 (GRCh37)
Canonical SPDI:: NC_000023.11:48576325:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48576326C>T, NC_000023.10:g.48434714C>T, NW_004070880.2:g.815755C>T, NM_006743.5:c.223C>T, NM_006743.4:c.223C>T, NM_001017430.1:c.*219C>T, NM_001017431.1:c.116C>T, NP_006734.1:p.Arg75Cys

Select item 14429957344.

rs1442995734 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48576533 (GRCh38)
X:48434921 (GRCh37)
Canonical SPDI:: NC_000023.11:48576532:T:C
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48576533T>C, NC_000023.10:g.48434921T>C, NW_004070880.2:g.815962T>C, NM_006743.5:c.342T>C, NM_006743.4:c.342T>C, NM_001017430.1:c.*338T>C, NM_001017431.1:c.*28T>C

Select item 14317727055.

rs1431772705 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48575208 (GRCh38)
X:48433596 (GRCh37)
Canonical SPDI:: NC_000023.11:48575207:G:A
Gene:: RBM3 (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.48575208G>A, NC_000023.10:g.48433596G>A, NG_070972.2:g.1692G>A, NW_004070880.2:g.814637G>A, NM_006743.5:c.28G>A, NM_006743.4:c.28G>A, NM_001017430.1:c.28G>A, NM_001017431.1:c.28G>A, NP_006734.1:p.Val10Met

Select item 14269790246.

rs1426979024 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48575244 (GRCh38)
X:48433632 (GRCh37)
Canonical SPDI:: NC_000023.11:48575243:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: synonymous_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.48575244C>T, NC_000023.10:g.48433632C>T, NG_070972.2:g.1728C>T, NW_004070880.2:g.814673C>T, NM_006743.5:c.64C>T, NM_006743.4:c.64C>T, NM_001017430.1:c.64C>T, NM_001017431.1:c.64C>T

Select item 14259290137.

rs1425929013 has merged into rs782107609 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGA>- [Show Flanks]
Chromosome:: X:48577057 (GRCh38)
X:48435445 (GRCh37)
Canonical SPDI:: NC_000023.11:48577052:AGGAGGA:AGGA
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: AGGA=0.000217/5 (ALFA)
-=0.000087/9 (GnomAD)
-=0.000161/14 (ExAC)
-=0.000174/46 (TOPMED)
-=0.000251/46 (GnomAD_exomes)
HGVS:: NC_000023.11:g.48577054GGA[1], NC_000023.10:g.48435442GGA[1], NW_004070880.2:g.816483GGA[1], NM_006743.5:c.442GGA[1], NM_006743.4:c.442GGA[1], NM_001017430.1:c.*438GGA[1], NM_001017431.1:c.*128GGA[1], NP_006734.1:p.Gly149del

Select item 14152748498.

rs1415274849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48575231 (GRCh38)
X:48433619 (GRCh37)
Canonical SPDI:: NC_000023.11:48575230:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48575231C>T, NC_000023.10:g.48433619C>T, NG_070972.2:g.1715C>T, NW_004070880.2:g.814660C>T, NM_006743.5:c.51C>T, NM_006743.4:c.51C>T, NM_001017430.1:c.51C>T, NM_001017431.1:c.51C>T

Select item 13804326599.

rs1380432659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:48577037 (GRCh38)
X:48435425 (GRCh37)
Canonical SPDI:: NC_000023.11:48577036:G:A,NC_000023.11:48577036:G:T
Gene:: RBM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000005/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48577037G>A, NC_000023.11:g.48577037G>T, NC_000023.10:g.48435425G>A, NC_000023.10:g.48435425G>T, NW_004070880.2:g.816466G>A, NW_004070880.2:g.816466G>T, NM_006743.5:c.425G>A, NM_006743.5:c.425G>T, NM_006743.4:c.425G>A, NM_006743.4:c.425G>T, NM_001017430.1:c.*421G>A, NM_001017430.1:c.*421G>T, NM_001017431.1:c.*111G>A, NM_001017431.1:c.*111G>T, NP_006734.1:p.Gly142Asp, NP_006734.1:p.Gly142Val

Select item 136319621110.

rs1363196211 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48577065 (GRCh38)
X:48435453 (GRCh37)
Canonical SPDI:: NC_000023.11:48577064:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48577065C>T, NC_000023.10:g.48435453C>T, NW_004070880.2:g.816494C>T, NM_006743.5:c.453C>T, NM_006743.4:c.453C>T, NM_001017430.1:c.*449C>T, NM_001017431.1:c.*139C>T

Select item 132353938011.

rs1323539380 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48575647 (GRCh38)
X:48434035 (GRCh37)
Canonical SPDI:: NC_000023.11:48575646:A:G
Gene:: RBM3 (Varview)
Functional Consequence:: 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.48575647A>G, NC_000023.10:g.48434035A>G, NG_070972.2:g.2131A>G, NW_004070880.2:g.815076A>G, NM_006743.5:c.190A>G, NM_006743.4:c.190A>G, NM_001017430.1:c.190A>G, NP_006734.1:p.Met64Val

Select item 129750688112.

rs1297506881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:48577030 (GRCh38)
X:48435418 (GRCh37)
Canonical SPDI:: NC_000023.11:48577029:C:A
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.48577030C>A, NC_000023.10:g.48435418C>A, NW_004070880.2:g.816459C>A, NM_006743.5:c.418C>A, NM_006743.4:c.418C>A, NM_001017430.1:c.*414C>A, NM_001017431.1:c.*104C>A, NP_006734.1:p.Gln140Lys

Select item 126058876413.

rs1260588764 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48575590 (GRCh38)
X:48433978 (GRCh37)
Canonical SPDI:: NC_000023.11:48575589:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000045/1 (TOMMO)
HGVS:: NC_000023.11:g.48575590C>T, NC_000023.10:g.48433978C>T, NG_070972.2:g.2074C>T, NW_004070880.2:g.815019C>T, NM_006743.5:c.133C>T, NM_006743.4:c.133C>T, NM_001017430.1:c.133C>T, NP_006734.1:p.Arg45Trp

Select item 124616948514.

rs1246169485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48575606 (GRCh38)
X:48433994 (GRCh37)
Canonical SPDI:: NC_000023.11:48575605:G:A
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.48575606G>A, NC_000023.10:g.48433994G>A, NG_070972.2:g.2090G>A, NW_004070880.2:g.815035G>A, NM_006743.5:c.149G>A, NM_006743.4:c.149G>A, NM_001017430.1:c.149G>A, NP_006734.1:p.Gly50Asp

Select item 124227859615.

rs1242278596 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48576403 (GRCh38)
X:48434791 (GRCh37)
Canonical SPDI:: NC_000023.11:48576402:T:G
Gene:: RBM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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.48576403T>G, NC_000023.10:g.48434791T>G, NW_004070880.2:g.815832T>G, NM_006743.5:c.300T>G, NM_006743.4:c.300T>G, NM_001017430.1:c.*296T>G, NM_001017431.1:c.193T>G

Select item 120449084016.

rs1204490840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48576412 (GRCh38)
X:48434800 (GRCh37)
Canonical SPDI:: NC_000023.11:48576411:C:T
Gene:: RBM3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48576412C>T, NC_000023.10:g.48434800C>T, NW_004070880.2:g.815841C>T, NM_006743.5:c.309C>T, NM_006743.4:c.309C>T, NM_001017430.1:c.*305C>T, NM_001017431.1:c.202C>T

Select item 118983286917.

rs1189832869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48576387 (GRCh38)
X:48434775 (GRCh37)
Canonical SPDI:: NC_000023.11:48576386:G:C
Gene:: RBM3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48576387G>C, NC_000023.10:g.48434775G>C, NW_004070880.2:g.815816G>C, NM_006743.5:c.284G>C, NM_006743.4:c.284G>C, NM_001017430.1:c.*280G>C, NM_001017431.1:c.177G>C, NP_006734.1:p.Gly95Ala

Select item 118928924318.

rs1189289243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48575278 (GRCh38)
X:48433666 (GRCh37)
Canonical SPDI:: NC_000023.11:48575277:C:T
Gene:: RBM3 (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.48575278C>T, NC_000023.10:g.48433666C>T, NG_070972.2:g.1762C>T, NW_004070880.2:g.814707C>T, NM_006743.5:c.98C>T, NM_006743.4:c.98C>T, NM_001017430.1:c.98C>T, NM_001017431.1:c.98C>T, NP_006734.1:p.Ser33Phe

Select item 116995746619.

rs1169957466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:48575223 (GRCh38)
X:48433611 (GRCh37)
Canonical SPDI:: NC_000023.11:48575222:T:A
Gene:: RBM3 (Varview)
Functional Consequence:: 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.48575223T>A, NC_000023.10:g.48433611T>A, NG_070972.2:g.1707T>A, NW_004070880.2:g.814652T>A, NM_006743.5:c.43T>A, NM_006743.4:c.43T>A, NM_001017430.1:c.43T>A, NM_001017431.1:c.43T>A, NP_006734.1:p.Phe15Ile

Select item 116249568920.

rs1162495689 has merged into rs782302530 [Homo sapiens]

Variant type:: DEL
Alleles:: AAT>- [Show Flanks]
Chromosome:: X:48577072 (GRCh38)
X:48435460 (GRCh37)
Canonical SPDI:: NC_000023.11:48577071:AAT:
Gene:: RBM3 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0./0 (TWINSUK)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000346/1 (ALSPAC)
HGVS:: NC_000023.11:g.48577072_48577074del, NC_000023.10:g.48435460_48435462del, NW_004070880.2:g.816501_816503del, NM_006743.5:c.460_462del, NM_006743.4:c.460_462del, NM_001017430.1:c.*456_*458del, NM_001017431.1:c.*146_*148del, NP_006734.1:p.Asn154del

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