SNP Links for Nucleotide (Select 392583867) - SNP

Links from Nucleotide

Items: 1 to 20 of 193

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Select item 14896455321.

rs1489645532 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:77710851 (GRCh38)
14:78177194 (GRCh37)
Canonical SPDI:: NC_000014.9:77710850:A:G
Gene:: SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77710851A>G, NC_000014.8:g.78177194A>G, NM_031210.6:c.111A>G, NM_031210.5:c.111A>G, NR_052025.2:n.231A>G, NR_052025.1:n.263A>G, NM_001267864.1:c.111A>G, NM_001267863.1:c.111A>G

Select item 14862110122.

rs1486211012 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77708148 (GRCh38)
14:78174491 (GRCh37)
Canonical SPDI:: NC_000014.9:77708147:C:T
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77708148C>T, NC_000014.8:g.78174491C>T, NM_031210.6:c.37C>T, NM_031210.5:c.37C>T, NR_052025.2:n.46C>T, NR_052025.1:n.78C>T, NM_001267864.1:c.37C>T, NM_001267863.1:c.37C>T, NP_112487.1:p.Arg13Cys, NP_001254793.1:p.Arg13Cys, NP_001254792.1:p.Arg13Cys

Select item 14750724113.

rs1475072411 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:77710857 (GRCh38)
14:78177200 (GRCh37)
Canonical SPDI:: NC_000014.9:77710856:T:C
Gene:: SLIRP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77710857T>C, NC_000014.8:g.78177200T>C, NM_031210.6:c.117T>C, NM_031210.5:c.117T>C, NR_052025.2:n.237T>C, NR_052025.1:n.269T>C, NM_001267864.1:c.117T>C, NM_001267863.1:c.117T>C

Select item 14696963964.

rs1469696396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77715832 (GRCh38)
14:78182175 (GRCh37)
Canonical SPDI:: NC_000014.9:77715831:C:T
Gene:: SLIRP (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77715832C>T, NC_000014.8:g.78182175C>T, NM_031210.6:c.217C>T, NM_031210.5:c.217C>T, NR_052025.2:n.337C>T, NR_052025.1:n.369C>T, NM_001267864.1:c.217C>T, NM_001267863.1:c.217C>T, NP_112487.1:p.Leu73Phe, NP_001254793.1:p.Leu73Phe, NP_001254792.1:p.Leu73Phe

Select item 14570900325.

rs1457090032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 14:77708131 (GRCh38)
14:78174474 (GRCh37)
Canonical SPDI:: NC_000014.9:77708130:G:C,NC_000014.9:77708130:G:T
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.77708131G>C, NC_000014.9:g.77708131G>T, NC_000014.8:g.78174474G>C, NC_000014.8:g.78174474G>T, NM_031210.6:c.20G>C, NM_031210.6:c.20G>T, NM_031210.5:c.20G>C, NM_031210.5:c.20G>T, NR_052025.2:n.29G>C, NR_052025.2:n.29G>T, NR_052025.1:n.61G>C, NR_052025.1:n.61G>T, NM_001267864.1:c.20G>C, NM_001267864.1:c.20G>T, NM_001267863.1:c.20G>C, NM_001267863.1:c.20G>T, NP_112487.1:p.Arg7Thr, NP_112487.1:p.Arg7Ile, NP_001254793.1:p.Arg7Thr, NP_001254793.1:p.Arg7Ile, NP_001254792.1:p.Arg7Thr, NP_001254792.1:p.Arg7Ile

Select item 14502209946.

rs1450220994 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 14:77708207 (GRCh38)
14:78174550 (GRCh37)
Canonical SPDI:: NC_000014.9:77708206:G:A
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77708207G>A, NC_000014.8:g.78174550G>A, NM_031210.6:c.96G>A, NM_031210.5:c.96G>A, NR_052025.2:n.105G>A, NR_052025.1:n.137G>A, NM_001267864.1:c.96G>A, NM_001267863.1:c.96G>A

Select item 14470678517.

rs1447067851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 14:77710881 (GRCh38)
14:78177224 (GRCh37)
Canonical SPDI:: NC_000014.9:77710880:G:T
Gene:: SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.77710881G>T, NC_000014.8:g.78177224G>T, NM_031210.6:c.141G>T, NM_031210.5:c.141G>T, NR_052025.2:n.261G>T, NR_052025.1:n.293G>T, NM_001267864.1:c.141G>T, NM_001267863.1:c.141G>T, NP_112487.1:p.Arg47Ser, NP_001254793.1:p.Arg47Ser, NP_001254792.1:p.Arg47Ser

Select item 14421499248.

rs1442149924 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:77715791 (GRCh38)
14:78182134 (GRCh37)
Canonical SPDI:: NC_000014.9:77715790:A:C
Gene:: SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77715791A>C, NC_000014.8:g.78182134A>C, NM_031210.6:c.176A>C, NM_031210.5:c.176A>C, NR_052025.2:n.296A>C, NR_052025.1:n.328A>C, NM_001267864.1:c.176A>C, NM_001267863.1:c.176A>C, NP_112487.1:p.His59Pro, NP_001254793.1:p.His59Pro, NP_001254792.1:p.His59Pro

Select item 14384207859.

rs1438420785 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77708075 (GRCh38)
14:78174418 (GRCh37)
Canonical SPDI:: NC_000014.9:77708074:C:T
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77708075C>T, NC_000014.8:g.78174418C>T, NM_031210.5:c.-37C>T, NR_052025.1:n.5C>T, NM_001267864.1:c.-37C>T, NM_001267863.1:c.-37C>T

Select item 143043777310.

rs1430437773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:77708098 (GRCh38)
14:78174441 (GRCh37)
Canonical SPDI:: NC_000014.9:77708097:G:C
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000014.9:g.77708098G>C, NC_000014.8:g.78174441G>C, NM_031210.5:c.-14G>C, NR_052025.1:n.28G>C, NM_001267864.1:c.-14G>C, NM_001267863.1:c.-14G>C

Select item 142495912711.

rs1424959127 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:77708192 (GRCh38)
14:78174535 (GRCh37)
Canonical SPDI:: NC_000014.9:77708191:T:A,NC_000014.9:77708191:T:C
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77708192T>A, NC_000014.9:g.77708192T>C, NC_000014.8:g.78174535T>A, NC_000014.8:g.78174535T>C, NM_031210.6:c.81T>A, NM_031210.6:c.81T>C, NM_031210.5:c.81T>A, NM_031210.5:c.81T>C, NR_052025.2:n.90T>A, NR_052025.2:n.90T>C, NR_052025.1:n.122T>A, NR_052025.1:n.122T>C, NM_001267864.1:c.81T>A, NM_001267864.1:c.81T>C, NM_001267863.1:c.81T>A, NM_001267863.1:c.81T>C

Select item 142285958812.

rs1422859588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:77710888 (GRCh38)
14:78177231 (GRCh37)
Canonical SPDI:: NC_000014.9:77710887:T:G
Gene:: SLIRP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.77710888T>G, NC_000014.8:g.78177231T>G, NM_031210.6:c.148T>G, NM_031210.5:c.148T>G, NR_052025.2:n.268T>G, NR_052025.1:n.300T>G, NM_001267864.1:c.148T>G, NM_001267863.1:c.148T>G, NP_112487.1:p.Leu50Val, NP_001254793.1:p.Leu50Val, NP_001254792.1:p.Leu50Val

Select item 141089490913.

rs1410894909 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 14:77717559 (GRCh38)
14:78183902 (GRCh37)
Canonical SPDI:: NC_000014.9:77717558:T:A,NC_000014.9:77717558:T:C
Gene:: SNW1 (Varview), SLIRP (Varview)
Functional Consequence:: 3_prime_UTR_variant,terminator_codon_variant,non_coding_transcript_variant,500B_downstream_variant,downstream_transcript_variant,stop_lost
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77717559T>A, NC_000014.9:g.77717559T>C, NC_000014.8:g.78183902T>A, NC_000014.8:g.78183902T>C, NM_031210.6:c.328T>A, NM_031210.6:c.328T>C, NM_031210.5:c.328T>A, NM_031210.5:c.328T>C, NR_052025.2:n.448T>A, NR_052025.2:n.448T>C, NR_052025.1:n.480T>A, NR_052025.1:n.480T>C, NM_001267864.1:c.*65T>A, NM_001267864.1:c.*65T>C, NM_001267863.1:c.322T>A, NM_001267863.1:c.322T>C, NP_112487.1:p.Ter110Arg, NP_112487.1:p.Ter110Arg, NP_001254792.1:p.Ter108Arg, NP_001254792.1:p.Ter108Arg

Select item 140542232014.

rs1405422320 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 14:77708103 (GRCh38)
14:78174446 (GRCh37)
Canonical SPDI:: NC_000014.9:77708102:A:G,NC_000014.9:77708102:A:T
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: upstream_transcript_variant,5_prime_UTR_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77708103A>G, NC_000014.9:g.77708103A>T, NC_000014.8:g.78174446A>G, NC_000014.8:g.78174446A>T, NM_031210.6:c.-9A>G, NM_031210.6:c.-9A>T, NM_031210.5:c.-9A>G, NM_031210.5:c.-9A>T, NR_052025.2:n.1A>G, NR_052025.2:n.1A>T, NR_052025.1:n.33A>G, NR_052025.1:n.33A>T, NM_001267864.1:c.-9A>G, NM_001267864.1:c.-9A>T, NM_001267863.1:c.-9A>G, NM_001267863.1:c.-9A>T

Select item 140114843015.

rs1401148430 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:77708206 (GRCh38)
14:78174549 (GRCh37)
Canonical SPDI:: NC_000014.9:77708205:C:G
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77708206C>G, NC_000014.8:g.78174549C>G, NM_031210.6:c.95C>G, NM_031210.5:c.95C>G, NR_052025.2:n.104C>G, NR_052025.1:n.136C>G, NM_001267864.1:c.95C>G, NM_001267863.1:c.95C>G, NP_112487.1:p.Ser32Trp, NP_001254793.1:p.Ser32Trp, NP_001254792.1:p.Ser32Trp

Select item 140038865716.

rs1400388657 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 14:77715843 (GRCh38)
14:78182186 (GRCh37)
Canonical SPDI:: NC_000014.9:77715842:A:C
Gene:: SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000014.9:g.77715843A>C, NC_000014.8:g.78182186A>C, NM_031210.6:c.228A>C, NM_031210.5:c.228A>C, NR_052025.2:n.348A>C, NR_052025.1:n.380A>C, NM_001267864.1:c.228A>C, NM_001267863.1:c.228A>C

Select item 139398308417.

rs1393983084 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:77717507 (GRCh38)
14:78183850 (GRCh37)
Canonical SPDI:: NC_000014.9:77717506:C:T
Gene:: SNW1 (Varview), SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,downstream_transcript_variant,non_coding_transcript_variant,3_prime_UTR_variant,500B_downstream_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.77717507C>T, NC_000014.8:g.78183850C>T, NM_031210.6:c.276C>T, NM_031210.5:c.276C>T, NR_052025.2:n.396C>T, NR_052025.1:n.428C>T, NM_001267864.1:c.*13C>T, NM_001267863.1:c.270C>T

Select item 138673486918.

rs1386734869 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 14:77708190 (GRCh38)
14:78174533 (GRCh37)
Canonical SPDI:: NC_000014.9:77708189:C:G
Gene:: ALKBH1 (Varview), SLIRP (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,2KB_upstream_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=0.000007/1 (GnomAD)
G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77708190C>G, NC_000014.8:g.78174533C>G, NM_031210.6:c.79C>G, NM_031210.5:c.79C>G, NR_052025.2:n.88C>G, NR_052025.1:n.120C>G, NM_001267864.1:c.79C>G, NM_001267863.1:c.79C>G, NP_112487.1:p.Pro27Ala, NP_001254793.1:p.Pro27Ala, NP_001254792.1:p.Pro27Ala

Select item 138008374519.

rs1380083745 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 14:77715783 (GRCh38)
14:78182126 (GRCh37)
Canonical SPDI:: NC_000014.9:77715782:T:G
Gene:: SLIRP (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77715783T>G, NC_000014.8:g.78182126T>G, NM_031210.6:c.168T>G, NM_031210.5:c.168T>G, NR_052025.2:n.288T>G, NR_052025.1:n.320T>G, NM_001267864.1:c.168T>G, NM_001267863.1:c.168T>G

Select item 136907413420.

rs1369074134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 14:77715829 (GRCh38)
14:78182172 (GRCh37)
Canonical SPDI:: NC_000014.9:77715828:G:C
Gene:: SLIRP (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000028/7 (GnomAD_exomes)
HGVS:: NC_000014.9:g.77715829G>C, NC_000014.8:g.78182172G>C, NM_031210.6:c.214G>C, NM_031210.5:c.214G>C, NR_052025.2:n.334G>C, NR_052025.1:n.366G>C, NM_001267864.1:c.214G>C, NM_001267863.1:c.214G>C, NP_112487.1:p.Gly72Arg, NP_001254793.1:p.Gly72Arg, NP_001254792.1:p.Gly72Arg

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