SNP Links for Protein (Select 51896031) - SNP

Links from Protein

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Select item 14880569691.

rs1488056969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:41917128 (GRCh38)
5:41917230 (GRCh37)
Canonical SPDI:: NC_000005.10:41917127:T:C
Gene:: RIMOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41917128T>C, NC_000005.9:g.41917230T>C, NM_175921.6:c.714T>C, NM_175921.5:c.714T>C, NM_175921.4:c.714T>C, XM_005248289.5:c.*80T>C, XM_005248289.4:c.*80T>C, XM_005248289.2:c.*80T>C, XM_011514032.3:c.495T>C, XM_011514032.2:c.495T>C, XM_011514032.1:c.495T>C

Select item 14848259752.

rs1484825975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:41917207 (GRCh38)
5:41917309 (GRCh37)
Canonical SPDI:: NC_000005.10:41917206:G:A
Gene:: RIMOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.41917207G>A, NC_000005.9:g.41917309G>A, NM_175921.6:c.793G>A, NM_175921.5:c.793G>A, NM_175921.4:c.793G>A, XM_005248289.5:c.*159G>A, XM_005248289.4:c.*159G>A, XM_011514032.3:c.574G>A, XM_011514032.2:c.574G>A, XM_011514032.1:c.574G>A, NP_787117.3:p.Val265Ile, XP_011512334.1:p.Val192Ile

Select item 14816722683.

rs1481672268 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:41907800 (GRCh38)
5:41907902 (GRCh37)
Canonical SPDI:: NC_000005.10:41907799:A:G
Gene:: RIMOC1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.41907800A>G, NC_000005.9:g.41907902A>G, NM_175921.6:c.165A>G, NM_175921.5:c.165A>G, NM_175921.4:c.165A>G, XM_005248289.5:c.165A>G, XM_005248289.4:c.165A>G, XM_005248289.3:c.165A>G, XM_005248289.2:c.165A>G, XM_005248289.1:c.165A>G, XM_011514032.3:c.-55A>G, XM_011514032.2:c.-55A>G, XM_011514032.1:c.-55A>G, XM_047417114.1:c.165A>G

Select item 14759902394.

rs1475990239 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:41904379 (GRCh38)
5:41904481 (GRCh37)
Canonical SPDI:: NC_000005.10:41904378:A:C
Gene:: RIMOC1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41904379A>C, NC_000005.9:g.41904481A>C, NM_175921.6:c.12A>C, NM_175921.5:c.12A>C, NM_175921.4:c.12A>C, XM_005248289.5:c.12A>C, XM_005248289.4:c.12A>C, XM_005248289.3:c.12A>C, XM_005248289.2:c.12A>C, XM_005248289.1:c.12A>C, XM_011514032.3:c.-331A>C, XM_011514032.2:c.-331A>C, XM_047417114.1:c.12A>C

Select item 14693828745.

rs1469382874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:41904400 (GRCh38)
5:41904502 (GRCh37)
Canonical SPDI:: NC_000005.10:41904399:A:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.41904400A>T, NC_000005.9:g.41904502A>T, NM_175921.6:c.33A>T, NM_175921.5:c.33A>T, NM_175921.4:c.33A>T, XM_005248289.5:c.33A>T, XM_005248289.4:c.33A>T, XM_005248289.3:c.33A>T, XM_005248289.2:c.33A>T, XM_005248289.1:c.33A>T, XM_011514032.3:c.-310A>T, XM_011514032.2:c.-310A>T, XM_011514032.1:c.-310A>T, XM_047417114.1:c.33A>T

Select item 14654872316.

rs1465487231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:41912167 (GRCh38)
5:41912269 (GRCh37)
Canonical SPDI:: NC_000005.10:41912166:T:C
Gene:: RIMOC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41912167T>C, NC_000005.9:g.41912269T>C, NM_175921.6:c.585T>C, NM_175921.5:c.585T>C, NM_175921.4:c.585T>C, XM_011514032.3:c.366T>C, XM_011514032.2:c.366T>C, XM_011514032.1:c.366T>C, XM_047417114.1:c.585T>C

Select item 14649583667.

rs1464958366 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:41907795 (GRCh38)
5:41907897 (GRCh37)
Canonical SPDI:: NC_000005.10:41907794:G:A
Gene:: RIMOC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
HGVS:: NC_000005.10:g.41907795G>A, NC_000005.9:g.41907897G>A, NM_175921.6:c.160G>A, NM_175921.5:c.160G>A, NM_175921.4:c.160G>A, XM_005248289.5:c.160G>A, XM_005248289.4:c.160G>A, XM_005248289.3:c.160G>A, XM_005248289.2:c.160G>A, XM_005248289.1:c.160G>A, XM_011514032.3:c.-60G>A, XM_011514032.2:c.-60G>A, XM_011514032.1:c.-60G>A, XM_047417114.1:c.160G>A, NP_787117.3:p.Glu54Lys, XP_005248346.1:p.Glu54Lys, XP_047273070.1:p.Glu54Lys

Select item 14619384008.

rs1461938400 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:41917141 (GRCh38)
5:41917243 (GRCh37)
Canonical SPDI:: NC_000005.10:41917140:G:A
Gene:: RIMOC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.41917141G>A, NC_000005.9:g.41917243G>A, NM_175921.6:c.727G>A, NM_175921.5:c.727G>A, NM_175921.4:c.727G>A, XM_005248289.5:c.*93G>A, XM_005248289.4:c.*93G>A, XM_011514032.3:c.508G>A, XM_011514032.2:c.508G>A, XM_011514032.1:c.508G>A, NP_787117.3:p.Gly243Ser, XP_011512334.1:p.Gly170Ser

Select item 14609278179.

rs1460927817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:41912117 (GRCh38)
5:41912219 (GRCh37)
Canonical SPDI:: NC_000005.10:41912116:T:A,NC_000005.10:41912116:T:C
Gene:: RIMOC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.41912117T>A, NC_000005.10:g.41912117T>C, NC_000005.9:g.41912219T>A, NC_000005.9:g.41912219T>C, NM_175921.6:c.535T>A, NM_175921.6:c.535T>C, NM_175921.5:c.535T>A, NM_175921.5:c.535T>C, NM_175921.4:c.535T>A, NM_175921.4:c.535T>C, XM_011514032.3:c.316T>A, XM_011514032.3:c.316T>C, XM_011514032.2:c.316T>A, XM_011514032.2:c.316T>C, XM_011514032.1:c.316T>A, XM_011514032.1:c.316T>C, XM_047417114.1:c.535T>A, XM_047417114.1:c.535T>C, NP_787117.3:p.Cys179Ser, NP_787117.3:p.Cys179Arg, XP_011512334.1:p.Cys106Ser, XP_011512334.1:p.Cys106Arg, XP_047273070.1:p.Cys179Ser, XP_047273070.1:p.Cys179Arg

Select item 145878830410.

rs1458788304 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:41917162 (GRCh38)
5:41917264 (GRCh37)
Canonical SPDI:: NC_000005.10:41917161:C:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41917162C>T, NC_000005.9:g.41917264C>T, NM_175921.6:c.748C>T, NM_175921.5:c.748C>T, NM_175921.4:c.748C>T, XM_005248289.5:c.*114C>T, XM_005248289.4:c.*114C>T, XM_011514032.3:c.529C>T, XM_011514032.2:c.529C>T, XM_011514032.1:c.529C>T, NP_787117.3:p.Pro250Ser, XP_011512334.1:p.Pro177Ser

Select item 145766749211.

rs1457667492 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:41912074 (GRCh38)
5:41912176 (GRCh37)
Canonical SPDI:: NC_000005.10:41912073:T:A
Gene:: RIMOC1 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41912074T>A, NC_000005.9:g.41912176T>A, NM_175921.6:c.492T>A, NM_175921.5:c.492T>A, NM_175921.4:c.492T>A, XM_011514032.3:c.273T>A, XM_011514032.2:c.273T>A, XM_011514032.1:c.273T>A, XM_047417114.1:c.492T>A

Select item 145192541712.

rs1451925417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:41917102 (GRCh38)
5:41917204 (GRCh37)
Canonical SPDI:: NC_000005.10:41917101:C:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.41917102C>T, NC_000005.9:g.41917204C>T, NM_175921.6:c.688C>T, NM_175921.5:c.688C>T, NM_175921.4:c.688C>T, XM_005248289.5:c.*54C>T, XM_005248289.4:c.*54C>T, XM_005248289.2:c.*54C>T, XM_011514032.3:c.469C>T, XM_011514032.2:c.469C>T, XM_011514032.1:c.469C>T, NP_787117.3:p.Pro230Ser, XP_011512334.1:p.Pro157Ser

Select item 145135396213.

rs1451353962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:41912086 (GRCh38)
5:41912188 (GRCh37)
Canonical SPDI:: NC_000005.10:41912085:C:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41912086C>T, NC_000005.9:g.41912188C>T, NM_175921.6:c.504C>T, NM_175921.5:c.504C>T, NM_175921.4:c.504C>T, XM_011514032.3:c.285C>T, XM_011514032.2:c.285C>T, XM_011514032.1:c.285C>T, XM_047417114.1:c.504C>T

Select item 145061009714.

rs1450610097 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:41917265 (GRCh38)
5:41917367 (GRCh37)
Canonical SPDI:: NC_000005.10:41917264:A:G
Gene:: RIMOC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41917265A>G, NC_000005.9:g.41917367A>G, NM_175921.6:c.851A>G, NM_175921.5:c.851A>G, NM_175921.4:c.851A>G, XM_005248289.5:c.*217A>G, XM_005248289.4:c.*217A>G, XM_011514032.3:c.632A>G, XM_011514032.2:c.632A>G, XM_011514032.1:c.632A>G, NP_787117.3:p.Gln284Arg, XP_011512334.1:p.Gln211Arg

Select item 144922626715.

rs1449226267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:41904443 (GRCh38)
5:41904545 (GRCh37)
Canonical SPDI:: NC_000005.10:41904442:C:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.41904443C>T, NC_000005.9:g.41904545C>T, NM_175921.6:c.76C>T, NM_175921.5:c.76C>T, NM_175921.4:c.76C>T, XM_005248289.5:c.76C>T, XM_005248289.4:c.76C>T, XM_005248289.3:c.76C>T, XM_005248289.2:c.76C>T, XM_005248289.1:c.76C>T, XM_011514032.3:c.-267C>T, XM_011514032.2:c.-267C>T, XM_011514032.1:c.-267C>T, XM_047417114.1:c.76C>T, NP_787117.3:p.Leu26Phe, XP_005248346.1:p.Leu26Phe, XP_047273070.1:p.Leu26Phe

Select item 144796295216.

rs1447962952 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:41904419 (GRCh38)
5:41904521 (GRCh37)
Canonical SPDI:: NC_000005.10:41904418:C:G
Gene:: RIMOC1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41904419C>G, NC_000005.9:g.41904521C>G, NM_175921.6:c.52C>G, NM_175921.5:c.52C>G, NM_175921.4:c.52C>G, XM_005248289.5:c.52C>G, XM_005248289.4:c.52C>G, XM_005248289.3:c.52C>G, XM_005248289.2:c.52C>G, XM_005248289.1:c.52C>G, XM_011514032.3:c.-291C>G, XM_011514032.2:c.-291C>G, XM_011514032.1:c.-291C>G, XM_047417114.1:c.52C>G, NP_787117.3:p.Leu18Val, XP_005248346.1:p.Leu18Val, XP_047273070.1:p.Leu18Val

Select item 143846672817.

rs1438466728 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:41911110 (GRCh38)
5:41911212 (GRCh37)
Canonical SPDI:: NC_000005.10:41911109:G:A
Gene:: RIMOC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41911110G>A, NC_000005.9:g.41911212G>A, NM_175921.6:c.417G>A, NM_175921.5:c.417G>A, NM_175921.4:c.417G>A, XM_005248289.5:c.417G>A, XM_005248289.4:c.417G>A, XM_005248289.3:c.417G>A, XM_005248289.2:c.417G>A, XM_005248289.1:c.417G>A, XM_011514032.3:c.198G>A, XM_011514032.2:c.198G>A, XM_011514032.1:c.198G>A, XM_047417114.1:c.417G>A

Select item 143175212618.

rs1431752126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:41912076 (GRCh38)
5:41912178 (GRCh37)
Canonical SPDI:: NC_000005.10:41912075:T:C,NC_000005.10:41912075:T:G
Gene:: RIMOC1 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.41912076T>C, NC_000005.10:g.41912076T>G, NC_000005.9:g.41912178T>C, NC_000005.9:g.41912178T>G, NM_175921.6:c.494T>C, NM_175921.6:c.494T>G, NM_175921.5:c.494T>C, NM_175921.5:c.494T>G, NM_175921.4:c.494T>C, NM_175921.4:c.494T>G, XM_011514032.3:c.275T>C, XM_011514032.3:c.275T>G, XM_011514032.2:c.275T>C, XM_011514032.2:c.275T>G, XM_011514032.1:c.275T>C, XM_011514032.1:c.275T>G, XM_047417114.1:c.494T>C, XM_047417114.1:c.494T>G, NP_787117.3:p.Leu165Pro, NP_787117.3:p.Leu165Arg, XP_011512334.1:p.Leu92Pro, XP_011512334.1:p.Leu92Arg, XP_047273070.1:p.Leu165Pro, XP_047273070.1:p.Leu165Arg

Select item 142719713519.

rs1427197135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:41912161 (GRCh38)
5:41912263 (GRCh37)
Canonical SPDI:: NC_000005.10:41912160:C:T
Gene:: RIMOC1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (KOREAN)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.41912161C>T, NC_000005.9:g.41912263C>T, NM_175921.6:c.579C>T, NM_175921.5:c.579C>T, NM_175921.4:c.579C>T, XM_011514032.3:c.360C>T, XM_011514032.2:c.360C>T, XM_011514032.1:c.360C>T, XM_047417114.1:c.579C>T

Select item 142089562720.

rs1420895627 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:41917130 (GRCh38)
5:41917232 (GRCh37)
Canonical SPDI:: NC_000005.10:41917129:T:C
Gene:: RIMOC1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.41917130T>C, NC_000005.9:g.41917232T>C, NM_175921.6:c.716T>C, NM_175921.5:c.716T>C, NM_175921.4:c.716T>C, XM_005248289.5:c.*82T>C, XM_005248289.4:c.*82T>C, XM_005248289.2:c.*82T>C, XM_011514032.3:c.497T>C, XM_011514032.2:c.497T>C, XM_011514032.1:c.497T>C, NP_787117.3:p.Val239Ala, XP_011512334.1:p.Val166Ala

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