SNP Links for Protein (Select 21265080) - SNP

Links from Protein

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Select item 14887152631.

rs1488715263 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159790963 (GRCh38)
6:160211995 (GRCh37)
Canonical SPDI:: NC_000006.12:159790962:A:G
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159790963A>G, NC_000006.11:g.160211995A>G, NM_014161.5:c.76A>G, NM_014161.4:c.76A>G, NM_014161.3:c.76A>G, NR_134861.2:n.345A>G, NR_134861.1:n.295A>G, NM_001318817.2:c.76A>G, NM_001318817.1:c.76A>G, NR_134860.1:n.338A>G, NR_134862.1:n.218A>G, NR_134863.1:n.218A>G, NR_134864.1:n.101A>G, NR_134865.1:n.218A>G, NR_134866.1:n.218A>G, NP_054880.2:p.Thr26Ala, NP_001305746.1:p.Thr26Ala

Select item 14883560222.

rs1488356022 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:159797443 (GRCh38)
6:160218475 (GRCh37)
Canonical SPDI:: NC_000006.12:159797442:G:C
Gene:: MRPL18 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159797443G>C, NC_000006.11:g.160218475G>C, NM_014161.5:c.396G>C, NM_014161.4:c.396G>C, NM_014161.3:c.396G>C, NR_134861.2:n.665G>C, NR_134861.1:n.615G>C, NR_134860.1:n.658G>C, NR_134862.1:n.538G>C, NR_134863.1:n.522G>C, NR_134864.1:n.421G>C

Select item 14790792183.

rs1479079218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159790974 (GRCh38)
6:160212006 (GRCh37)
Canonical SPDI:: NC_000006.12:159790973:G:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159790974G>A, NC_000006.11:g.160212006G>A, NM_014161.5:c.87G>A, NM_014161.4:c.87G>A, NM_014161.3:c.87G>A, NR_134861.2:n.356G>A, NR_134861.1:n.306G>A, NM_001318817.2:c.87G>A, NM_001318817.1:c.87G>A, NR_134860.1:n.349G>A, NR_134862.1:n.229G>A, NR_134863.1:n.229G>A, NR_134864.1:n.112G>A, NR_134865.1:n.229G>A, NR_134866.1:n.229G>A

Select item 14750534574.

rs1475053457 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159797450 (GRCh38)
6:160218482 (GRCh37)
Canonical SPDI:: NC_000006.12:159797449:A:G
Gene:: MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159797450A>G, NC_000006.11:g.160218482A>G, NM_014161.5:c.403A>G, NM_014161.4:c.403A>G, NM_014161.3:c.403A>G, NR_134861.2:n.672A>G, NR_134861.1:n.622A>G, NR_134860.1:n.665A>G, NR_134862.1:n.545A>G, NR_134863.1:n.529A>G, NR_134864.1:n.428A>G, NP_054880.2:p.Arg135Gly

Select item 14687079825.

rs1468707982 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:159798086 (GRCh38)
6:160219118 (GRCh37)
Canonical SPDI:: NC_000006.12:159798085:G:C
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159798086G>C, NC_000006.11:g.160219118G>C, NM_014161.5:c.506G>C, NM_014161.4:c.506G>C, NM_014161.3:c.506G>C, NR_134861.2:n.775G>C, NR_134861.1:n.725G>C, NM_001318817.2:c.357G>C, NM_001318817.1:c.357G>C, NR_134860.1:n.768G>C, NR_134862.1:n.648G>C, NR_134863.1:n.632G>C, NR_134864.1:n.531G>C, NR_134865.1:n.499G>C, NR_134866.1:n.477G>C, NP_054880.2:p.Gly169Ala, NP_001305746.1:p.Trp119Cys

Select item 14644972966.

rs1464497296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159797432 (GRCh38)
6:160218464 (GRCh37)
Canonical SPDI:: NC_000006.12:159797431:G:A
Gene:: MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159797432G>A, NC_000006.11:g.160218464G>A, NM_014161.5:c.385G>A, NM_014161.4:c.385G>A, NM_014161.3:c.385G>A, NR_134861.2:n.654G>A, NR_134861.1:n.604G>A, NR_134860.1:n.647G>A, NR_134862.1:n.527G>A, NR_134863.1:n.511G>A, NR_134864.1:n.410G>A, NP_054880.2:p.Gly129Arg

Select item 14570850617.

rs1457085061 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159791053 (GRCh38)
6:160212085 (GRCh37)
Canonical SPDI:: NC_000006.12:159791052:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159791053C>T, NC_000006.11:g.160212085C>T, NM_014161.5:c.166C>T, NM_014161.4:c.166C>T, NM_014161.3:c.166C>T, NR_134861.2:n.435C>T, NR_134861.1:n.385C>T, NM_001318817.2:c.166C>T, NM_001318817.1:c.166C>T, NR_134860.1:n.428C>T, NR_134862.1:n.308C>T, NR_134863.1:n.308C>T, NR_134864.1:n.191C>T, NR_134865.1:n.308C>T, NR_134866.1:n.308C>T

Select item 14569753258.

rs1456975325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159790970 (GRCh38)
6:160212002 (GRCh37)
Canonical SPDI:: NC_000006.12:159790969:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.159790970C>T, NC_000006.11:g.160212002C>T, NM_014161.5:c.83C>T, NM_014161.4:c.83C>T, NM_014161.3:c.83C>T, NR_134861.2:n.352C>T, NR_134861.1:n.302C>T, NM_001318817.2:c.83C>T, NM_001318817.1:c.83C>T, NR_134860.1:n.345C>T, NR_134862.1:n.225C>T, NR_134863.1:n.225C>T, NR_134864.1:n.108C>T, NR_134865.1:n.225C>T, NR_134866.1:n.225C>T, NP_054880.2:p.Ser28Phe, NP_001305746.1:p.Ser28Phe

Select item 14528131899.

rs1452813189 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:159797455 (GRCh38)
6:160218487 (GRCh37)
Canonical SPDI:: NC_000006.12:159797454:C:A,NC_000006.12:159797454:C:T
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,stop_gained,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159797455C>A, NC_000006.12:g.159797455C>T, NC_000006.11:g.160218487C>A, NC_000006.11:g.160218487C>T, NM_014161.5:c.408C>A, NM_014161.5:c.408C>T, NM_014161.4:c.408C>A, NM_014161.4:c.408C>T, NM_014161.3:c.408C>A, NM_014161.3:c.408C>T, NR_134861.2:n.677C>A, NR_134861.2:n.677C>T, NR_134861.1:n.627C>A, NR_134861.1:n.627C>T, NR_134860.1:n.670C>A, NR_134860.1:n.670C>T, NR_134862.1:n.550C>A, NR_134862.1:n.550C>T, NR_134863.1:n.534C>A, NR_134863.1:n.534C>T, NR_134864.1:n.433C>A, NR_134864.1:n.433C>T, NP_054880.2:p.Cys136Ter

Select item 145011068610.

rs1450110686 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159790971 (GRCh38)
6:160212003 (GRCh37)
Canonical SPDI:: NC_000006.12:159790970:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159790971C>T, NC_000006.11:g.160212003C>T, NM_014161.5:c.84C>T, NM_014161.4:c.84C>T, NM_014161.3:c.84C>T, NR_134861.2:n.353C>T, NR_134861.1:n.303C>T, NM_001318817.2:c.84C>T, NM_001318817.1:c.84C>T, NR_134860.1:n.346C>T, NR_134862.1:n.226C>T, NR_134863.1:n.226C>T, NR_134864.1:n.109C>T, NR_134865.1:n.226C>T, NR_134866.1:n.226C>T

Select item 144899184011.

rs1448991840 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159797513 (GRCh38)
6:160218545 (GRCh37)
Canonical SPDI:: NC_000006.12:159797512:G:A
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.159797513G>A, NC_000006.11:g.160218545G>A, NM_014161.5:c.466G>A, NM_014161.4:c.466G>A, NM_014161.3:c.466G>A, NR_134861.2:n.735G>A, NR_134861.1:n.685G>A, NR_134860.1:n.728G>A, NR_134862.1:n.608G>A, NR_134863.1:n.592G>A, NR_134864.1:n.491G>A, NP_054880.2:p.Asp156Asn

Select item 144445325712.

rs1444453257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159791110 (GRCh38)
6:160212142 (GRCh37)
Canonical SPDI:: NC_000006.12:159791109:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.159791110C>T, NC_000006.11:g.160212142C>T, NM_014161.5:c.223C>T, NM_014161.4:c.223C>T, NM_014161.3:c.223C>T, NR_134861.2:n.492C>T, NR_134861.1:n.442C>T, NM_001318817.2:c.223C>T, NM_001318817.1:c.223C>T, NR_134860.1:n.485C>T, NR_134862.1:n.365C>T, NR_134863.1:n.365C>T, NR_134864.1:n.248C>T, NR_134865.1:n.365C>T, NR_134866.1:n.365C>T, NP_054880.2:p.Arg75Cys, NP_001305746.1:p.Arg75Cys

Select item 144112651213.

rs1441126512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159797406 (GRCh38)
6:160218438 (GRCh37)
Canonical SPDI:: NC_000006.12:159797405:G:A
Gene:: MRPL18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.159797406G>A, NC_000006.11:g.160218438G>A, NM_014161.5:c.359G>A, NM_014161.4:c.359G>A, NM_014161.3:c.359G>A, NR_134861.2:n.628G>A, NR_134861.1:n.578G>A, NR_134860.1:n.621G>A, NR_134862.1:n.501G>A, NR_134863.1:n.485G>A, NR_134864.1:n.384G>A, NP_054880.2:p.Arg120Lys

Select item 142779972714.

rs1427799727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159798078 (GRCh38)
6:160219110 (GRCh37)
Canonical SPDI:: NC_000006.12:159798077:A:G
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159798078A>G, NC_000006.11:g.160219110A>G, NM_014161.5:c.498A>G, NM_014161.4:c.498A>G, NM_014161.3:c.498A>G, NR_134861.2:n.767A>G, NR_134861.1:n.717A>G, NM_001318817.2:c.349A>G, NM_001318817.1:c.349A>G, NR_134860.1:n.760A>G, NR_134862.1:n.640A>G, NR_134863.1:n.624A>G, NR_134864.1:n.523A>G, NR_134865.1:n.491A>G, NR_134866.1:n.469A>G, NP_001305746.1:p.Arg117Gly

Select item 140726934715.

rs1407269347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159797464 (GRCh38)
6:160218496 (GRCh37)
Canonical SPDI:: NC_000006.12:159797463:G:A
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159797464G>A, NC_000006.11:g.160218496G>A, NM_014161.5:c.417G>A, NM_014161.4:c.417G>A, NM_014161.3:c.417G>A, NR_134861.2:n.686G>A, NR_134861.1:n.636G>A, NR_134860.1:n.679G>A, NR_134862.1:n.559G>A, NR_134863.1:n.543G>A, NR_134864.1:n.442G>A

Select item 140155793316.

rs1401557933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159798095 (GRCh38)
6:160219127 (GRCh37)
Canonical SPDI:: NC_000006.12:159798094:T:C
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159798095T>C, NC_000006.11:g.160219127T>C, NM_014161.5:c.515T>C, NM_014161.4:c.515T>C, NM_014161.3:c.515T>C, NR_134861.2:n.784T>C, NR_134861.1:n.734T>C, NM_001318817.2:c.366T>C, NM_001318817.1:c.366T>C, NR_134860.1:n.777T>C, NR_134862.1:n.657T>C, NR_134863.1:n.641T>C, NR_134864.1:n.540T>C, NR_134865.1:n.508T>C, NR_134866.1:n.486T>C, NP_054880.2:p.Leu172Pro

Select item 140110763617.

rs1401107636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:159797408 (GRCh38)
6:160218440 (GRCh37)
Canonical SPDI:: NC_000006.12:159797407:A:T
Gene:: MRPL18 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159797408A>T, NC_000006.11:g.160218440A>T, NM_014161.5:c.361A>T, NM_014161.4:c.361A>T, NM_014161.3:c.361A>T, NR_134861.2:n.630A>T, NR_134861.1:n.580A>T, NR_134860.1:n.623A>T, NR_134862.1:n.503A>T, NR_134863.1:n.487A>T, NR_134864.1:n.386A>T, NP_054880.2:p.Asn121Tyr

Select item 139805046718.

rs1398050467 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159791018 (GRCh38)
6:160212050 (GRCh37)
Canonical SPDI:: NC_000006.12:159791017:T:C
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,missense_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_000006.12:g.159791018T>C, NC_000006.11:g.160212050T>C, NM_014161.5:c.131T>C, NM_014161.4:c.131T>C, NM_014161.3:c.131T>C, NR_134861.2:n.400T>C, NR_134861.1:n.350T>C, NM_001318817.2:c.131T>C, NM_001318817.1:c.131T>C, NR_134860.1:n.393T>C, NR_134862.1:n.273T>C, NR_134863.1:n.273T>C, NR_134864.1:n.156T>C, NR_134865.1:n.273T>C, NR_134866.1:n.273T>C, NP_054880.2:p.Val44Ala, NP_001305746.1:p.Val44Ala

Select item 139533396819.

rs1395333968 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:159797314 (GRCh38)
6:160218346 (GRCh37)
Canonical SPDI:: NC_000006.12:159797313:T:C
Gene:: MRPL18 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.159797314T>C, NC_000006.11:g.160218346T>C, NM_014161.5:c.267T>C, NM_014161.4:c.267T>C, NM_014161.3:c.267T>C, NR_134861.2:n.536T>C, NR_134861.1:n.486T>C, NM_001318817.2:c.267T>C, NM_001318817.1:c.267T>C, NR_134860.1:n.529T>C, NR_134862.1:n.409T>C, NR_134863.1:n.393T>C, NR_134864.1:n.292T>C, NR_134865.1:n.409T>C, NR_134866.1:n.409T>C

Select item 138186077420.

rs1381860774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:159797499 (GRCh38)
6:160218531 (GRCh37)
Canonical SPDI:: NC_000006.12:159797498:G:T
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,upstream_transcript_variant,intron_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159797499G>T, NC_000006.11:g.160218531G>T, NM_014161.5:c.452G>T, NM_014161.4:c.452G>T, NM_014161.3:c.452G>T, NR_134861.2:n.721G>T, NR_134861.1:n.671G>T, NR_134860.1:n.714G>T, NR_134862.1:n.594G>T, NR_134863.1:n.578G>T, NR_134864.1:n.477G>T, NP_054880.2:p.Trp151Leu

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