SNP Links for Nucleotide (Select 440918728) - SNP

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Links from Nucleotide

Items: 1 to 20 of 467

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Select item 14887357521.

rs1488735752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:75789335 (GRCh38)
1:76255020 (GRCh37)
Canonical SPDI:: NC_000001.11:75789334:A:G
Gene:: RABGGTB (Varview), SNORD45B (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,synonymous_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75789335A>G, NC_000001.10:g.76255020A>G, NG_007045.2:g.69978A>G, NM_004582.4:c.288A>G, NM_004582.3:c.288A>G, NR_073562.1:n.366A>G

Select item 14886291012.

rs1488629101 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:75791464 (GRCh38)
1:76257149 (GRCh37)
Canonical SPDI:: NC_000001.11:75791463:A:G
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_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_000001.11:g.75791464A>G, NC_000001.10:g.76257149A>G, NM_004582.4:c.472A>G, NM_004582.3:c.472A>G, NR_073562.1:n.745A>G, NP_004573.2:p.Lys158Glu

Select item 14815474423.

rs1481547442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:75791529 (GRCh38)
1:76257214 (GRCh37)
Canonical SPDI:: NC_000001.11:75791528:T:G
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75791529T>G, NC_000001.10:g.76257214T>G, NM_004582.4:c.537T>G, NM_004582.3:c.537T>G, NR_073562.1:n.810T>G

Select item 14810875954.

rs1481087595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:75790258 (GRCh38)
1:76255943 (GRCh37)
Canonical SPDI:: NC_000001.11:75790257:C:G
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.75790258C>G, NC_000001.10:g.76255943C>G, NR_073562.1:n.600C>G

Select item 14775995835.

rs1477599583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:75790242 (GRCh38)
1:76255927 (GRCh37)
Canonical SPDI:: NC_000001.11:75790241:A:C
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.75790242A>C, NC_000001.10:g.76255927A>C, NR_073562.1:n.584A>C

Select item 14774041216.

rs1477404121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:75794636 (GRCh38)
1:76260321 (GRCh37)
Canonical SPDI:: NC_000001.11:75794635:G:C
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.75794636G>C, NC_000001.10:g.76260321G>C, NG_029861.1:g.2766G>C, NM_004582.4:c.982G>C, NM_004582.3:c.982G>C, NR_073562.1:n.1255G>C, NP_004573.2:p.Glu328Gln

Select item 14758085767.

rs1475808576 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:75790498 (GRCh38)
1:76256183 (GRCh37)
Canonical SPDI:: NC_000001.11:75790497:A:T
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.75790498A>T, NC_000001.10:g.76256183A>T, NR_073562.1:n.669A>T

Select item 14713301288.

rs1471330128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:75789299 (GRCh38)
1:76254984 (GRCh37)
Canonical SPDI:: NC_000001.11:75789298:A:G
Gene:: RABGGTB (Varview), SNORD45B (Varview)
Functional Consequence:: synonymous_variant,2KB_upstream_variant,coding_sequence_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)
HGVS:: NC_000001.11:g.75789299A>G, NC_000001.10:g.76254984A>G, NG_007045.2:g.69942A>G, NM_004582.4:c.252A>G, NM_004582.3:c.252A>G, NR_073562.1:n.330A>G

Select item 14699944219.

rs1469994421 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:75794158 (GRCh38)
1:76259843 (GRCh37)
Canonical SPDI:: NC_000001.11:75794157:A:G
Gene:: RABGGTB (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75794158A>G, NC_000001.10:g.76259843A>G, NG_029861.1:g.2288A>G, NM_004582.4:c.780A>G, NM_004582.3:c.780A>G, NR_073562.1:n.1053A>G

Select item 146994059610.

rs1469940596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75789960 (GRCh38)
1:76255645 (GRCh37)
Canonical SPDI:: NC_000001.11:75789959:G:A
Gene:: RABGGTB (Varview), SNORD45B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,500B_downstream_variant,downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75789960G>A, NC_000001.10:g.76255645G>A, NM_004582.4:c.318G>A, NM_004582.3:c.318G>A, NR_073562.1:n.396G>A

Select item 146640415211.

rs1466404152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:75789193 (GRCh38)
1:76254878 (GRCh37)
Canonical SPDI:: NC_000001.11:75789192:G:T
Gene:: RABGGTB (Varview), SNORD45B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75789193G>T, NC_000001.10:g.76254878G>T, NG_007045.2:g.69836G>T, NM_004582.4:c.146G>T, NM_004582.3:c.146G>T, NR_073562.1:n.224G>T, NP_004573.2:p.Gly49Val

Select item 146347887612.

rs1463478876 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:75792217 (GRCh38)
1:76257902 (GRCh37)
Canonical SPDI:: NC_000001.11:75792216:C:A
Gene:: RABGGTB (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75792217C>A, NC_000001.10:g.76257902C>A, NG_029861.1:g.347C>A, NM_004582.4:c.616C>A, NM_004582.3:c.616C>A, NR_073562.1:n.889C>A, NP_004573.2:p.Gln206Lys

Select item 145973595013.

rs1459735950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:75794602 (GRCh38)
1:76260287 (GRCh37)
Canonical SPDI:: NC_000001.11:75794601:T:C
Gene:: RABGGTB (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=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000177/3 (TOMMO)
C=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.75794602T>C, NC_000001.10:g.76260287T>C, NG_029861.1:g.2732T>C, NM_004582.4:c.948T>C, NM_004582.3:c.948T>C, NR_073562.1:n.1221T>C

Select item 145864428514.

rs1458644285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:75792183 (GRCh38)
1:76257868 (GRCh37)
Canonical SPDI:: NC_000001.11:75792182:C:A,NC_000001.11:75792182:C:G
Gene:: RABGGTB (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.75792183C>A, NC_000001.11:g.75792183C>G, NC_000001.10:g.76257868C>A, NC_000001.10:g.76257868C>G, NG_029861.1:g.313C>A, NG_029861.1:g.313C>G, NM_004582.4:c.582C>A, NM_004582.4:c.582C>G, NM_004582.3:c.582C>A, NM_004582.3:c.582C>G, NR_073562.1:n.855C>A, NR_073562.1:n.855C>G, NP_004573.2:p.Ile194Met

Select item 145852193015.

rs1458521930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:75794880 (GRCh38)
1:76260565 (GRCh37)
Canonical SPDI:: NC_000001.11:75794879:T:C,NC_000001.11:75794879:T:G
Gene:: RABGGTB (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.75794880T>C, NC_000001.11:g.75794880T>G, NC_000001.10:g.76260565T>C, NC_000001.10:g.76260565T>G, NG_029861.1:g.3010T>C, NG_029861.1:g.3010T>G, NM_004582.4:c.*230T>C, NM_004582.4:c.*230T>G, NM_004582.3:c.*230T>C, NM_004582.3:c.*230T>G, NR_073562.1:n.1499T>C, NR_073562.1:n.1499T>G

Select item 145712090716.

rs1457120907 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:75787564 (GRCh38)
1:76253249 (GRCh37)
Canonical SPDI:: NC_000001.11:75787563:C:G,NC_000001.11:75787563:C:T
Gene:: RABGGTB (Varview), SNORD45B (Varview), SNORD45A (Varview), SNORD45C (Varview)
Functional Consequence:: downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant,upstream_transcript_variant,500B_downstream_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.75787564C>G, NC_000001.11:g.75787564C>T, NC_000001.10:g.76253249C>G, NC_000001.10:g.76253249C>T, NG_007045.2:g.68207C>G, NG_007045.2:g.68207C>T, NM_004582.4:c.71C>G, NM_004582.4:c.71C>T, NM_004582.3:c.71C>G, NM_004582.3:c.71C>T, NR_073562.1:n.149C>G, NR_073562.1:n.149C>T, NP_004573.2:p.Ala24Gly, NP_004573.2:p.Ala24Val

Select item 144811021817.

rs1448110218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:75794974 (GRCh38)
1:76260659 (GRCh37)
Canonical SPDI:: NC_000001.11:75794973:C:T
Gene:: MSH4 (Varview), RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.75794974C>T, NC_000001.10:g.76260659C>T, NG_029861.1:g.3104C>T, NM_004582.4:c.*324C>T, NM_004582.3:c.*324C>T, NR_073562.1:n.1593C>T

Select item 144566193718.

rs1445661937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:75790238 (GRCh38)
1:76255923 (GRCh37)
Canonical SPDI:: NC_000001.11:75790237:G:A
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.00005/7 (GnomAD)
A=0.00006/16 (TOPMED)
HGVS:: NC_000001.11:g.75790238G>A, NC_000001.10:g.76255923G>A, NR_073562.1:n.580G>A

Select item 144500091819.

rs1445000918 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:75789298 (GRCh38)
1:76254983 (GRCh37)
Canonical SPDI:: NC_000001.11:75789297:G:C
Gene:: RABGGTB (Varview), SNORD45B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.75789298G>C, NC_000001.10:g.76254983G>C, NG_007045.2:g.69941G>C, NM_004582.4:c.251G>C, NM_004582.3:c.251G>C, NR_073562.1:n.329G>C, NP_004573.2:p.Gly84Ala

Select item 144285354620.

rs1442853546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:75794111 (GRCh38)
1:76259796 (GRCh37)
Canonical SPDI:: NC_000001.11:75794110:G:T
Gene:: RABGGTB (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.75794111G>T, NC_000001.10:g.76259796G>T, NG_029861.1:g.2241G>T, NM_004582.4:c.733G>T, NM_004582.3:c.733G>T, NR_073562.1:n.1006G>T, NP_004573.2:p.Val245Phe