SNP Links for Nucleotide (Select 974005622) - SNP

Links from Nucleotide

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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 14860163723.

rs1486016372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:159798429 (GRCh38)
6:160219461 (GRCh37)
Canonical SPDI:: NC_000006.12:159798428:A:G
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.159798429A>G, NC_000006.11:g.160219461A>G, NM_014161.5:c.*306A>G, NM_014161.4:c.*306A>G, NM_014161.3:c.*306A>G, NR_134861.2:n.1118A>G, NR_134861.1:n.1068A>G, NM_001318817.2:c.*310A>G, NM_001318817.1:c.*310A>G, NR_134860.1:n.1111A>G, NR_134862.1:n.991A>G, NR_134863.1:n.975A>G, NR_134864.1:n.874A>G, NR_134865.1:n.842A>G, NR_134866.1:n.820A>G

Select item 14842700244.

rs1484270024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159790057 (GRCh38)
6:160211089 (GRCh37)
Canonical SPDI:: NC_000006.12:159790056:G:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159790057G>A, NC_000006.11:g.160211089G>A, NR_134860.1:n.191G>A, NR_134862.1:n.191G>A, NR_134863.1:n.191G>A, NR_134865.1:n.191G>A, NR_134866.1:n.191G>A

Select item 14836333985.

rs1483633398 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:159789999 (GRCh38)
6:160211031 (GRCh37)
Canonical SPDI:: NC_000006.12:159789998:T:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159789999T>A, NC_000006.11:g.160211031T>A, NR_134860.1:n.133T>A, NR_134862.1:n.133T>A, NR_134863.1:n.133T>A, NR_134865.1:n.133T>A, NR_134866.1:n.133T>A

Select item 14797366986.

rs1479736698 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:159798134 (GRCh38)
6:160219166 (GRCh37)
Canonical SPDI:: NC_000006.12:159798133:T:G
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.159798134T>G, NC_000006.11:g.160219166T>G, NM_014161.5:c.*11T>G, NM_014161.4:c.*11T>G, NM_014161.3:c.*11T>G, NR_134861.2:n.823T>G, NR_134861.1:n.773T>G, NM_001318817.2:c.*15T>G, NM_001318817.1:c.*15T>G, NR_134860.1:n.816T>G, NR_134862.1:n.696T>G, NR_134863.1:n.680T>G, NR_134864.1:n.579T>G, NR_134865.1:n.547T>G, NR_134866.1:n.525T>G

Select item 14790792187.

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 14750534578.

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 14731406649.

rs1473140664 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159790052 (GRCh38)
6:160211084 (GRCh37)
Canonical SPDI:: NC_000006.12:159790051:C:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.159790052C>T, NC_000006.11:g.160211084C>T, NR_134860.1:n.186C>T, NR_134862.1:n.186C>T, NR_134863.1:n.186C>T, NR_134865.1:n.186C>T, NR_134866.1:n.186C>T

Select item 146993306710.

rs1469933067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:159789985 (GRCh38)
6:160211017 (GRCh37)
Canonical SPDI:: NC_000006.12:159789984:G:A,NC_000006.12:159789984:G:T
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.159789985G>A, NC_000006.12:g.159789985G>T, NC_000006.11:g.160211017G>A, NC_000006.11:g.160211017G>T, NR_134860.1:n.119G>A, NR_134860.1:n.119G>T, NR_134862.1:n.119G>A, NR_134862.1:n.119G>T, NR_134863.1:n.119G>A, NR_134863.1:n.119G>T, NR_134865.1:n.119G>A, NR_134865.1:n.119G>T, NR_134866.1:n.119G>A, NR_134866.1:n.119G>T

Select item 146870798211.

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 146449729612.

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 146248560313.

rs1462485603 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:159789975 (GRCh38)
6:160211007 (GRCh37)
Canonical SPDI:: NC_000006.12:159789974:G:A
Gene:: TCP1 (Varview), MRPL18 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.159789975G>A, NC_000006.11:g.160211007G>A, NR_134860.1:n.109G>A, NR_134862.1:n.109G>A, NR_134863.1:n.109G>A, NR_134865.1:n.109G>A, NR_134866.1:n.109G>A

Select item 146139668814.

rs1461396688 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 6:159798259 (GRCh38)
6:160219291 (GRCh37)
Canonical SPDI:: NC_000006.12:159798258:T:G
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.159798259T>G, NC_000006.11:g.160219291T>G, NM_014161.5:c.*136T>G, NM_014161.4:c.*136T>G, NM_014161.3:c.*136T>G, NR_134861.2:n.948T>G, NR_134861.1:n.898T>G, NM_001318817.2:c.*140T>G, NM_001318817.1:c.*140T>G, NR_134860.1:n.941T>G, NR_134862.1:n.821T>G, NR_134863.1:n.805T>G, NR_134864.1:n.704T>G, NR_134865.1:n.672T>G, NR_134866.1:n.650T>G

Select item 146007255715.

rs1460072557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:159798313 (GRCh38)
6:160219345 (GRCh37)
Canonical SPDI:: NC_000006.12:159798312:C:T
Gene:: MRPL18 (Varview), PNLDC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.159798313C>T, NC_000006.11:g.160219345C>T, NM_014161.5:c.*190C>T, NM_014161.4:c.*190C>T, NM_014161.3:c.*190C>T, NR_134861.2:n.1002C>T, NR_134861.1:n.952C>T, NM_001318817.2:c.*194C>T, NM_001318817.1:c.*194C>T, NR_134860.1:n.995C>T, NR_134862.1:n.875C>T, NR_134863.1:n.859C>T, NR_134864.1:n.758C>T, NR_134865.1:n.726C>T, NR_134866.1:n.704C>T

Select item 145708506116.

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 145697532517.

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 145281318918.

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 145011068619.

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 144899184020.

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

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dbSNP

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