SNP Links for Nucleotide (Select 332078504) - SNP

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Select item 14903850761.

rs1490385076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 15:55204419 (GRCh38)
15:55496617 (GRCh37)
Canonical SPDI:: NC_000015.10:55204418:C:A,NC_000015.10:55204418:C:G
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55204419C>A, NC_000015.10:g.55204419C>G, NC_000015.9:g.55496617C>A, NC_000015.9:g.55496617C>G, NG_009103.1:g.90385G>T, NG_009103.1:g.90385G>C, NM_004580.5:c.*1088G>T, NM_004580.5:c.*1088G>C, NM_004580.4:c.*1088G>T, NM_004580.4:c.*1088G>C, NM_183235.3:c.*1088G>T, NM_183235.3:c.*1088G>C, NM_183235.2:c.*1088G>T, NM_183235.2:c.*1088G>C, NM_183236.3:c.*1088G>T, NM_183236.3:c.*1088G>C, NM_183236.2:c.*1088G>T, NM_183236.2:c.*1088G>C, NM_183234.2:c.*1088G>T, NM_183234.2:c.*1088G>C, XM_005254576.6:c.*1088G>T, XM_005254576.6:c.*1088G>C, XM_005254576.5:c.*1088G>T, XM_005254576.5:c.*1088G>C, XM_005254576.4:c.*1088G>T, XM_005254576.4:c.*1088G>C, XM_005254576.3:c.*1088G>T, XM_005254576.3:c.*1088G>C, XM_005254576.2:c.*1088G>T, XM_005254576.2:c.*1088G>C, XM_005254576.1:c.*1088G>T, XM_005254576.1:c.*1088G>C, XM_011521855.4:c.*1088G>T, XM_011521855.4:c.*1088G>C, XM_011521855.3:c.*1088G>T, XM_011521855.3:c.*1088G>C, XM_011521855.2:c.*1088G>T, XM_011521855.2:c.*1088G>C, XM_011521855.1:c.*1088G>T, XM_011521855.1:c.*1088G>C, XM_011521856.3:c.*1088G>T, XM_011521856.3:c.*1088G>C, XM_011521856.2:c.*1088G>T, XM_011521856.2:c.*1088G>C, XM_011521856.1:c.*1088G>T, XM_011521856.1:c.*1088G>C, XM_047432918.1:c.*1088G>T, XM_047432918.1:c.*1088G>C, XM_047432922.1:c.*1088G>T, XM_047432922.1:c.*1088G>C, XM_047432916.1:c.*1088G>T, XM_047432916.1:c.*1088G>C, XM_047432919.1:c.*1088G>T, XM_047432919.1:c.*1088G>C, XM_011521852.1:c.*1088G>T, XM_011521852.1:c.*1088G>C, XM_047432917.1:c.*1088G>T, XM_047432917.1:c.*1088G>C, XM_047432920.1:c.*1088G>T, XM_047432920.1:c.*1088G>C, XM_047432923.1:c.*1088G>T, XM_047432923.1:c.*1088G>C, XM_011521854.1:c.*1088G>T, XM_011521854.1:c.*1088G>C, XM_047432921.1:c.*1088G>T, XM_047432921.1:c.*1088G>C

Select item 14902220552.

rs1490222055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 15:55203939 (GRCh38)
15:55496137 (GRCh37)
Canonical SPDI:: NC_000015.10:55203938:T:A,NC_000015.10:55203938:T:C,NC_000015.10:55203938:T:G
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55203939T>A, NC_000015.10:g.55203939T>C, NC_000015.10:g.55203939T>G, NC_000015.9:g.55496137T>A, NC_000015.9:g.55496137T>C, NC_000015.9:g.55496137T>G, NG_009103.1:g.90865A>T, NG_009103.1:g.90865A>G, NG_009103.1:g.90865A>C, NM_004580.5:c.*1568A>T, NM_004580.5:c.*1568A>G, NM_004580.5:c.*1568A>C, NM_004580.4:c.*1568A>T, NM_004580.4:c.*1568A>G, NM_004580.4:c.*1568A>C, NM_183235.3:c.*1568A>T, NM_183235.3:c.*1568A>G, NM_183235.3:c.*1568A>C, NM_183235.2:c.*1568A>T, NM_183235.2:c.*1568A>G, NM_183235.2:c.*1568A>C, NM_183236.3:c.*1568A>T, NM_183236.3:c.*1568A>G, NM_183236.3:c.*1568A>C, NM_183236.2:c.*1568A>T, NM_183236.2:c.*1568A>G, NM_183236.2:c.*1568A>C, NM_183234.2:c.*1568A>T, NM_183234.2:c.*1568A>G, NM_183234.2:c.*1568A>C, XM_005254576.6:c.*1568A>T, XM_005254576.6:c.*1568A>G, XM_005254576.6:c.*1568A>C, XM_005254576.5:c.*1568A>T, XM_005254576.5:c.*1568A>G, XM_005254576.5:c.*1568A>C, XM_005254576.4:c.*1568A>T, XM_005254576.4:c.*1568A>G, XM_005254576.4:c.*1568A>C, XM_005254576.3:c.*1568A>T, XM_005254576.3:c.*1568A>G, XM_005254576.3:c.*1568A>C, XM_005254576.2:c.*1568A>T, XM_005254576.2:c.*1568A>G, XM_005254576.2:c.*1568A>C, XM_005254576.1:c.*1568A>T, XM_005254576.1:c.*1568A>G, XM_005254576.1:c.*1568A>C, XM_011521855.4:c.*1568A>T, XM_011521855.4:c.*1568A>G, XM_011521855.4:c.*1568A>C, XM_011521855.3:c.*1568A>T, XM_011521855.3:c.*1568A>G, XM_011521855.3:c.*1568A>C, XM_011521855.2:c.*1568A>T, XM_011521855.2:c.*1568A>G, XM_011521855.2:c.*1568A>C, XM_011521855.1:c.*1568A>T, XM_011521855.1:c.*1568A>G, XM_011521855.1:c.*1568A>C, XM_011521856.3:c.*1568A>T, XM_011521856.3:c.*1568A>G, XM_011521856.3:c.*1568A>C, XM_011521856.2:c.*1568A>T, XM_011521856.2:c.*1568A>G, XM_011521856.2:c.*1568A>C, XM_011521856.1:c.*1568A>T, XM_011521856.1:c.*1568A>G, XM_011521856.1:c.*1568A>C, XM_047432918.1:c.*1568A>T, XM_047432918.1:c.*1568A>G, XM_047432918.1:c.*1568A>C, XM_047432922.1:c.*1568A>T, XM_047432922.1:c.*1568A>G, XM_047432922.1:c.*1568A>C, XM_047432916.1:c.*1568A>T, XM_047432916.1:c.*1568A>G, XM_047432916.1:c.*1568A>C, XM_047432919.1:c.*1568A>T, XM_047432919.1:c.*1568A>G, XM_047432919.1:c.*1568A>C, XM_011521852.1:c.*1568A>T, XM_011521852.1:c.*1568A>G, XM_011521852.1:c.*1568A>C, XM_047432917.1:c.*1568A>T, XM_047432917.1:c.*1568A>G, XM_047432917.1:c.*1568A>C, XM_047432920.1:c.*1568A>T, XM_047432920.1:c.*1568A>G, XM_047432920.1:c.*1568A>C, XM_047432923.1:c.*1568A>T, XM_047432923.1:c.*1568A>G, XM_047432923.1:c.*1568A>C, XM_011521854.1:c.*1568A>T, XM_011521854.1:c.*1568A>G, XM_011521854.1:c.*1568A>C, XM_047432921.1:c.*1568A>T, XM_047432921.1:c.*1568A>G, XM_047432921.1:c.*1568A>C

Select item 14899810163.

rs1489981016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:55230414 (GRCh38)
15:55522612 (GRCh37)
Canonical SPDI:: NC_000015.10:55230413:C:G,NC_000015.10:55230413:C:T
Gene:: RAB27A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55230414C>G, NC_000015.10:g.55230414C>T, NC_000015.9:g.55522612C>G, NC_000015.9:g.55522612C>T, NG_009103.1:g.64390G>C, NG_009103.1:g.64390G>A, NM_004580.5:c.226G>C, NM_004580.5:c.226G>A, NM_004580.4:c.226G>C, NM_004580.4:c.226G>A, NM_183235.3:c.226G>C, NM_183235.3:c.226G>A, NM_183235.2:c.226G>C, NM_183235.2:c.226G>A, NM_183236.3:c.226G>C, NM_183236.3:c.226G>A, NM_183236.2:c.226G>C, NM_183236.2:c.226G>A, NM_183234.2:c.226G>C, NM_183234.2:c.226G>A, XM_005254576.6:c.226G>C, XM_005254576.6:c.226G>A, XM_005254576.5:c.226G>C, XM_005254576.5:c.226G>A, XM_005254576.4:c.226G>C, XM_005254576.4:c.226G>A, XM_005254576.3:c.226G>C, XM_005254576.3:c.226G>A, XM_005254576.2:c.226G>C, XM_005254576.2:c.226G>A, XM_005254576.1:c.226G>C, XM_005254576.1:c.226G>A, XM_011521855.4:c.226G>C, XM_011521855.4:c.226G>A, XM_011521855.3:c.226G>C, XM_011521855.3:c.226G>A, XM_011521855.2:c.226G>C, XM_011521855.2:c.226G>A, XM_011521855.1:c.226G>C, XM_011521855.1:c.226G>A, XM_011521856.3:c.226G>C, XM_011521856.3:c.226G>A, XM_011521856.2:c.226G>C, XM_011521856.2:c.226G>A, XM_011521856.1:c.226G>C, XM_011521856.1:c.226G>A, XM_047432918.1:c.226G>C, XM_047432918.1:c.226G>A, XM_047432922.1:c.226G>C, XM_047432922.1:c.226G>A, XM_047432916.1:c.226G>C, XM_047432916.1:c.226G>A, XM_047432919.1:c.226G>C, XM_047432919.1:c.226G>A, XM_011521852.1:c.226G>C, XM_011521852.1:c.226G>A, XM_047432917.1:c.226G>C, XM_047432917.1:c.226G>A, XM_047432920.1:c.226G>C, XM_047432920.1:c.226G>A, XM_047432923.1:c.226G>C, XM_047432923.1:c.226G>A, XM_011521854.1:c.226G>C, XM_011521854.1:c.226G>A, XM_047432921.1:c.226G>C, XM_047432921.1:c.226G>A, NP_004571.2:p.Ala76Pro, NP_004571.2:p.Ala76Thr, NP_899058.1:p.Ala76Pro, NP_899058.1:p.Ala76Thr, NP_899059.1:p.Ala76Pro, NP_899059.1:p.Ala76Thr, NP_899057.1:p.Ala76Pro, NP_899057.1:p.Ala76Thr, XP_005254633.1:p.Ala76Pro, XP_005254633.1:p.Ala76Thr, XP_011520157.1:p.Ala76Pro, XP_011520157.1:p.Ala76Thr, XP_011520158.1:p.Ala76Pro, XP_011520158.1:p.Ala76Thr, XP_047288874.1:p.Ala76Pro, XP_047288874.1:p.Ala76Thr, XP_047288878.1:p.Ala76Pro, XP_047288878.1:p.Ala76Thr, XP_047288872.1:p.Ala76Pro, XP_047288872.1:p.Ala76Thr, XP_047288875.1:p.Ala76Pro, XP_047288875.1:p.Ala76Thr, XP_011520154.1:p.Ala76Pro, XP_011520154.1:p.Ala76Thr, XP_047288873.1:p.Ala76Pro, XP_047288873.1:p.Ala76Thr, XP_047288876.1:p.Ala76Pro, XP_047288876.1:p.Ala76Thr, XP_047288879.1:p.Ala76Pro, XP_047288879.1:p.Ala76Thr, XP_011520156.1:p.Ala76Pro, XP_011520156.1:p.Ala76Thr, XP_047288877.1:p.Ala76Pro, XP_047288877.1:p.Ala76Thr

Select item 14896837994.

rs1489683799 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAATTAC>- [Show Flanks]
Chromosome:: 15:55238447 (GRCh38)
15:55530645 (GRCh37)
Canonical SPDI:: NC_000015.10:55238443:TACCAATTAC:TAC
Gene:: RAB27A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAC=0.000071/1 (ALFA)
-=0.000029/4 (GnomAD)
-=0.000045/12 (TOPMED)
HGVS:: NC_000015.10:g.55238447_55238453del, NC_000015.9:g.55530645_55530651del, NG_009103.1:g.56354_56360del, NM_183234.2:c.-70_-64del, XM_011521852.1:c.-197_-191del, XM_047432920.1:c.-70_-64del, XM_047432923.1:c.-197_-191del, XM_011521854.1:c.-70_-64del, XM_047432921.1:c.-70_-64del

Select item 14888062925.

rs1488806292 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:55205648 (GRCh38)
15:55497846 (GRCh37)
Canonical SPDI:: NC_000015.10:55205647:C:G,NC_000015.10:55205647:C:T
Gene:: RAB27A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55205648C>G, NC_000015.10:g.55205648C>T, NC_000015.9:g.55497846C>G, NC_000015.9:g.55497846C>T, NG_009103.1:g.89156G>C, NG_009103.1:g.89156G>A, NM_004580.5:c.525G>C, NM_004580.5:c.525G>A, NM_004580.4:c.525G>C, NM_004580.4:c.525G>A, NM_183235.3:c.525G>C, NM_183235.3:c.525G>A, NM_183235.2:c.525G>C, NM_183235.2:c.525G>A, NM_183236.3:c.525G>C, NM_183236.3:c.525G>A, NM_183236.2:c.525G>C, NM_183236.2:c.525G>A, NM_183234.2:c.525G>C, NM_183234.2:c.525G>A, XM_005254576.6:c.525G>C, XM_005254576.6:c.525G>A, XM_005254576.5:c.525G>C, XM_005254576.5:c.525G>A, XM_005254576.4:c.525G>C, XM_005254576.4:c.525G>A, XM_005254576.3:c.525G>C, XM_005254576.3:c.525G>A, XM_005254576.2:c.525G>C, XM_005254576.2:c.525G>A, XM_005254576.1:c.525G>C, XM_005254576.1:c.525G>A, XM_011521855.4:c.525G>C, XM_011521855.4:c.525G>A, XM_011521855.3:c.525G>C, XM_011521855.3:c.525G>A, XM_011521855.2:c.525G>C, XM_011521855.2:c.525G>A, XM_011521855.1:c.525G>C, XM_011521855.1:c.525G>A, XM_011521856.3:c.525G>C, XM_011521856.3:c.525G>A, XM_011521856.2:c.525G>C, XM_011521856.2:c.525G>A, XM_011521856.1:c.525G>C, XM_011521856.1:c.525G>A, XM_047432918.1:c.525G>C, XM_047432918.1:c.525G>A, XM_047432922.1:c.525G>C, XM_047432922.1:c.525G>A, XM_047432916.1:c.525G>C, XM_047432916.1:c.525G>A, XM_047432919.1:c.525G>C, XM_047432919.1:c.525G>A, XM_011521852.1:c.525G>C, XM_011521852.1:c.525G>A, XM_047432917.1:c.525G>C, XM_047432917.1:c.525G>A, XM_047432920.1:c.525G>C, XM_047432920.1:c.525G>A, XM_047432923.1:c.525G>C, XM_047432923.1:c.525G>A, XM_011521854.1:c.525G>C, XM_011521854.1:c.525G>A, XM_047432921.1:c.525G>C, XM_047432921.1:c.525G>A, NP_004571.2:p.Glu175Asp, NP_899058.1:p.Glu175Asp, NP_899059.1:p.Glu175Asp, NP_899057.1:p.Glu175Asp, XP_005254633.1:p.Glu175Asp, XP_011520157.1:p.Glu175Asp, XP_011520158.1:p.Glu175Asp, XP_047288874.1:p.Glu175Asp, XP_047288878.1:p.Glu175Asp, XP_047288872.1:p.Glu175Asp, XP_047288875.1:p.Glu175Asp, XP_011520154.1:p.Glu175Asp, XP_047288873.1:p.Glu175Asp, XP_047288876.1:p.Glu175Asp, XP_047288879.1:p.Glu175Asp, XP_011520156.1:p.Glu175Asp, XP_047288877.1:p.Glu175Asp

Select item 14886721226.

rs1488672122 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 15:55203393 (GRCh38)
15:55495591 (GRCh37)
Canonical SPDI:: NC_000015.10:55203392:G:C,NC_000015.10:55203392:G:T
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55203393G>C, NC_000015.10:g.55203393G>T, NC_000015.9:g.55495591G>C, NC_000015.9:g.55495591G>T, NG_009103.1:g.91411C>G, NG_009103.1:g.91411C>A, NM_004580.5:c.*2114C>G, NM_004580.5:c.*2114C>A, NM_004580.4:c.*2114C>G, NM_004580.4:c.*2114C>A, NM_183235.3:c.*2114C>G, NM_183235.3:c.*2114C>A, NM_183235.2:c.*2114C>G, NM_183235.2:c.*2114C>A, NM_183236.3:c.*2114C>G, NM_183236.3:c.*2114C>A, NM_183236.2:c.*2114C>G, NM_183236.2:c.*2114C>A, NM_183234.2:c.*2114C>G, NM_183234.2:c.*2114C>A, XM_005254576.6:c.*2114C>G, XM_005254576.6:c.*2114C>A, XM_005254576.5:c.*2114C>G, XM_005254576.5:c.*2114C>A, XM_005254576.4:c.*2114C>G, XM_005254576.4:c.*2114C>A, XM_005254576.3:c.*2114C>G, XM_005254576.3:c.*2114C>A, XM_005254576.2:c.*2114C>G, XM_005254576.2:c.*2114C>A, XM_005254576.1:c.*2114C>G, XM_005254576.1:c.*2114C>A, XM_011521855.4:c.*2114C>G, XM_011521855.4:c.*2114C>A, XM_011521855.3:c.*2114C>G, XM_011521855.3:c.*2114C>A, XM_011521855.2:c.*2114C>G, XM_011521855.2:c.*2114C>A, XM_011521855.1:c.*2114C>G, XM_011521855.1:c.*2114C>A, XM_011521856.3:c.*2114C>G, XM_011521856.3:c.*2114C>A, XM_011521856.2:c.*2114C>G, XM_011521856.2:c.*2114C>A, XM_011521856.1:c.*2114C>G, XM_011521856.1:c.*2114C>A, XM_047432918.1:c.*2114C>G, XM_047432918.1:c.*2114C>A, XM_047432922.1:c.*2114C>G, XM_047432922.1:c.*2114C>A, XM_047432916.1:c.*2114C>G, XM_047432916.1:c.*2114C>A, XM_047432919.1:c.*2114C>G, XM_047432919.1:c.*2114C>A, XM_011521852.1:c.*2114C>G, XM_011521852.1:c.*2114C>A, XM_047432917.1:c.*2114C>G, XM_047432917.1:c.*2114C>A, XM_047432920.1:c.*2114C>G, XM_047432920.1:c.*2114C>A, XM_047432923.1:c.*2114C>G, XM_047432923.1:c.*2114C>A, XM_011521854.1:c.*2114C>G, XM_011521854.1:c.*2114C>A, XM_047432921.1:c.*2114C>G, XM_047432921.1:c.*2114C>A

Select item 14882404317.

rs1488240431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:55203428 (GRCh38)
15:55495626 (GRCh37)
Canonical SPDI:: NC_000015.10:55203427:T:A
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55203428T>A, NC_000015.9:g.55495626T>A, NG_009103.1:g.91376A>T, NM_004580.5:c.*2079A>T, NM_004580.4:c.*2079A>T, NM_183235.3:c.*2079A>T, NM_183235.2:c.*2079A>T, NM_183236.3:c.*2079A>T, NM_183236.2:c.*2079A>T, NM_183234.2:c.*2079A>T, XM_005254576.6:c.*2079A>T, XM_005254576.5:c.*2079A>T, XM_005254576.4:c.*2079A>T, XM_005254576.3:c.*2079A>T, XM_005254576.2:c.*2079A>T, XM_005254576.1:c.*2079A>T, XM_011521855.4:c.*2079A>T, XM_011521855.3:c.*2079A>T, XM_011521855.2:c.*2079A>T, XM_011521855.1:c.*2079A>T, XM_011521856.3:c.*2079A>T, XM_011521856.2:c.*2079A>T, XM_011521856.1:c.*2079A>T, XM_047432918.1:c.*2079A>T, XM_047432922.1:c.*2079A>T, XM_047432916.1:c.*2079A>T, XM_047432919.1:c.*2079A>T, XM_011521852.1:c.*2079A>T, XM_047432917.1:c.*2079A>T, XM_047432920.1:c.*2079A>T, XM_047432923.1:c.*2079A>T, XM_011521854.1:c.*2079A>T, XM_047432921.1:c.*2079A>T

Select item 14860952008.

rs1486095200 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATTTAA>- [Show Flanks]
Chromosome:: 15:55205033 (GRCh38)
15:55497231 (GRCh37)
Canonical SPDI:: NC_000015.10:55205026:ATTTAACATTTAA:ATTTAA
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ATTTAA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.55205033_55205039del, NC_000015.9:g.55497231_55497237del, NG_009103.1:g.89771_89777del, NM_004580.5:c.*474_*480del, NM_004580.4:c.*474_*480del, NM_183235.3:c.*474_*480del, NM_183235.2:c.*474_*480del, NM_183236.3:c.*474_*480del, NM_183236.2:c.*474_*480del, NM_183234.2:c.*474_*480del, XM_005254576.6:c.*474_*480del, XM_005254576.5:c.*474_*480del, XM_005254576.4:c.*474_*480del, XM_005254576.3:c.*474_*480del, XM_005254576.2:c.*474_*480del, XM_005254576.1:c.*474_*480del, XM_011521855.4:c.*474_*480del, XM_011521855.3:c.*474_*480del, XM_011521855.2:c.*474_*480del, XM_011521855.1:c.*474_*480del, XM_011521856.3:c.*474_*480del, XM_011521856.2:c.*474_*480del, XM_011521856.1:c.*474_*480del, XM_047432918.1:c.*474_*480del, XM_047432922.1:c.*474_*480del, XM_047432916.1:c.*474_*480del, XM_047432919.1:c.*474_*480del, XM_011521852.1:c.*474_*480del, XM_047432917.1:c.*474_*480del, XM_047432920.1:c.*474_*480del, XM_047432923.1:c.*474_*480del, XM_011521854.1:c.*474_*480del, XM_047432921.1:c.*474_*480del

Select item 14856061819.

rs1485606181 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55270256 (GRCh38)
15:55562454 (GRCh37)
Canonical SPDI:: NC_000015.10:55270255:A:G
Gene:: RAB27A (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55270256A>G, NC_000015.9:g.55562454A>G, NG_009103.1:g.24548T>C, NM_004580.5:c.-114T>C, NM_004580.4:c.-114T>C, NM_183235.3:c.-114T>C, NM_183235.2:c.-114T>C, NM_183236.3:c.-114T>C, NM_183236.2:c.-114T>C, NM_183234.2:c.-203T>C, XM_011521855.4:c.-217T>C, XM_011521855.3:c.-217T>C, XM_011521855.2:c.-217T>C, XM_011521855.1:c.-217T>C, XM_047432918.1:c.-114T>C, XM_047432916.1:c.-114T>C, XM_047432919.1:c.-114T>C, XM_011521852.1:c.-330T>C, XM_047432917.1:c.-114T>C, XM_047432920.1:c.-306T>C, XM_011521854.1:c.-203T>C, XM_047432921.1:c.-203T>C

Select item 148456770310.

rs1484567703 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:55203674 (GRCh38)
15:55495872 (GRCh37)
Canonical SPDI:: NC_000015.10:55203673:G:A,NC_000015.10:55203673:G:C
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.001027/3 (KOREAN)
HGVS:: NC_000015.10:g.55203674G>A, NC_000015.10:g.55203674G>C, NC_000015.9:g.55495872G>A, NC_000015.9:g.55495872G>C, NG_009103.1:g.91130C>T, NG_009103.1:g.91130C>G, NM_004580.5:c.*1833C>T, NM_004580.5:c.*1833C>G, NM_004580.4:c.*1833C>T, NM_004580.4:c.*1833C>G, NM_183235.3:c.*1833C>T, NM_183235.3:c.*1833C>G, NM_183235.2:c.*1833C>T, NM_183235.2:c.*1833C>G, NM_183236.3:c.*1833C>T, NM_183236.3:c.*1833C>G, NM_183236.2:c.*1833C>T, NM_183236.2:c.*1833C>G, NM_183234.2:c.*1833C>T, NM_183234.2:c.*1833C>G, XM_005254576.6:c.*1833C>T, XM_005254576.6:c.*1833C>G, XM_005254576.5:c.*1833C>T, XM_005254576.5:c.*1833C>G, XM_005254576.4:c.*1833C>T, XM_005254576.4:c.*1833C>G, XM_005254576.3:c.*1833C>T, XM_005254576.3:c.*1833C>G, XM_005254576.2:c.*1833C>T, XM_005254576.2:c.*1833C>G, XM_005254576.1:c.*1833C>T, XM_005254576.1:c.*1833C>G, XM_011521855.4:c.*1833C>T, XM_011521855.4:c.*1833C>G, XM_011521855.3:c.*1833C>T, XM_011521855.3:c.*1833C>G, XM_011521855.2:c.*1833C>T, XM_011521855.2:c.*1833C>G, XM_011521855.1:c.*1833C>T, XM_011521855.1:c.*1833C>G, XM_011521856.3:c.*1833C>T, XM_011521856.3:c.*1833C>G, XM_011521856.2:c.*1833C>T, XM_011521856.2:c.*1833C>G, XM_011521856.1:c.*1833C>T, XM_011521856.1:c.*1833C>G, XM_047432918.1:c.*1833C>T, XM_047432918.1:c.*1833C>G, XM_047432922.1:c.*1833C>T, XM_047432922.1:c.*1833C>G, XM_047432916.1:c.*1833C>T, XM_047432916.1:c.*1833C>G, XM_047432919.1:c.*1833C>T, XM_047432919.1:c.*1833C>G, XM_011521852.1:c.*1833C>T, XM_011521852.1:c.*1833C>G, XM_047432917.1:c.*1833C>T, XM_047432917.1:c.*1833C>G, XM_047432920.1:c.*1833C>T, XM_047432920.1:c.*1833C>G, XM_047432923.1:c.*1833C>T, XM_047432923.1:c.*1833C>G, XM_011521854.1:c.*1833C>T, XM_011521854.1:c.*1833C>G, XM_047432921.1:c.*1833C>T, XM_047432921.1:c.*1833C>G

Select item 148413494311.

rs1484134943 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 15:55204059 (GRCh38)
15:55496257 (GRCh37)
Canonical SPDI:: NC_000015.10:55204058:T:A
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.55204059T>A, NC_000015.9:g.55496257T>A, NG_009103.1:g.90745A>T, NM_004580.5:c.*1448A>T, NM_004580.4:c.*1448A>T, NM_183235.3:c.*1448A>T, NM_183235.2:c.*1448A>T, NM_183236.3:c.*1448A>T, NM_183236.2:c.*1448A>T, NM_183234.2:c.*1448A>T, XM_005254576.6:c.*1448A>T, XM_005254576.5:c.*1448A>T, XM_005254576.4:c.*1448A>T, XM_005254576.3:c.*1448A>T, XM_005254576.2:c.*1448A>T, XM_005254576.1:c.*1448A>T, XM_011521855.4:c.*1448A>T, XM_011521855.3:c.*1448A>T, XM_011521855.2:c.*1448A>T, XM_011521855.1:c.*1448A>T, XM_011521856.3:c.*1448A>T, XM_011521856.2:c.*1448A>T, XM_011521856.1:c.*1448A>T, XM_047432918.1:c.*1448A>T, XM_047432922.1:c.*1448A>T, XM_047432916.1:c.*1448A>T, XM_047432919.1:c.*1448A>T, XM_011521852.1:c.*1448A>T, XM_047432917.1:c.*1448A>T, XM_047432920.1:c.*1448A>T, XM_047432923.1:c.*1448A>T, XM_011521854.1:c.*1448A>T, XM_047432921.1:c.*1448A>T

Select item 148374233812.

rs1483742338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55224005 (GRCh38)
15:55516203 (GRCh37)
Canonical SPDI:: NC_000015.10:55224004:T:C
Gene:: RAB27A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55224005T>C, NC_000015.9:g.55516203T>C, NG_009103.1:g.70799A>G, NM_004580.5:c.351A>G, NM_004580.4:c.351A>G, NM_183235.3:c.351A>G, NM_183235.2:c.351A>G, NM_183236.3:c.351A>G, NM_183236.2:c.351A>G, NM_183234.2:c.351A>G, XM_005254576.6:c.351A>G, XM_005254576.5:c.351A>G, XM_005254576.4:c.351A>G, XM_005254576.3:c.351A>G, XM_005254576.2:c.351A>G, XM_005254576.1:c.351A>G, XM_011521855.4:c.351A>G, XM_011521855.3:c.351A>G, XM_011521855.2:c.351A>G, XM_011521855.1:c.351A>G, XM_011521856.3:c.351A>G, XM_011521856.2:c.351A>G, XM_011521856.1:c.351A>G, XM_047432918.1:c.351A>G, XM_047432922.1:c.351A>G, XM_047432916.1:c.351A>G, XM_047432919.1:c.351A>G, XM_011521852.1:c.351A>G, XM_047432917.1:c.351A>G, XM_047432920.1:c.351A>G, XM_047432923.1:c.351A>G, XM_011521854.1:c.351A>G, XM_047432921.1:c.351A>G

Select item 148140373913.

rs1481403739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:55203435 (GRCh38)
15:55495633 (GRCh37)
Canonical SPDI:: NC_000015.10:55203434:A:T
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0014/6 (ALFA)
T=0.0144/42 (KOREAN)
HGVS:: NC_000015.10:g.55203435A>T, NC_000015.9:g.55495633A>T, NG_009103.1:g.91369T>A, NM_004580.5:c.*2072T>A, NM_004580.4:c.*2072T>A, NM_183235.3:c.*2072T>A, NM_183235.2:c.*2072T>A, NM_183236.3:c.*2072T>A, NM_183236.2:c.*2072T>A, NM_183234.2:c.*2072T>A, XM_005254576.6:c.*2072T>A, XM_005254576.5:c.*2072T>A, XM_005254576.4:c.*2072T>A, XM_005254576.3:c.*2072T>A, XM_005254576.2:c.*2072T>A, XM_005254576.1:c.*2072T>A, XM_011521855.4:c.*2072T>A, XM_011521855.3:c.*2072T>A, XM_011521855.2:c.*2072T>A, XM_011521855.1:c.*2072T>A, XM_011521856.3:c.*2072T>A, XM_011521856.2:c.*2072T>A, XM_011521856.1:c.*2072T>A, XM_047432918.1:c.*2072T>A, XM_047432922.1:c.*2072T>A, XM_047432916.1:c.*2072T>A, XM_047432919.1:c.*2072T>A, XM_011521852.1:c.*2072T>A, XM_047432917.1:c.*2072T>A, XM_047432920.1:c.*2072T>A, XM_047432923.1:c.*2072T>A, XM_011521854.1:c.*2072T>A, XM_047432921.1:c.*2072T>A

Select item 148130081514.

rs1481300815 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:55204974 (GRCh38)
15:55497172 (GRCh37)
Canonical SPDI:: NC_000015.10:55204973:C:T
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.55204974C>T, NC_000015.9:g.55497172C>T, NG_009103.1:g.89830G>A, NM_004580.5:c.*533G>A, NM_004580.4:c.*533G>A, NM_183235.3:c.*533G>A, NM_183235.2:c.*533G>A, NM_183236.3:c.*533G>A, NM_183236.2:c.*533G>A, NM_183234.2:c.*533G>A, XM_005254576.6:c.*533G>A, XM_005254576.5:c.*533G>A, XM_005254576.4:c.*533G>A, XM_005254576.3:c.*533G>A, XM_005254576.2:c.*533G>A, XM_005254576.1:c.*533G>A, XM_011521855.4:c.*533G>A, XM_011521855.3:c.*533G>A, XM_011521855.2:c.*533G>A, XM_011521855.1:c.*533G>A, XM_011521856.3:c.*533G>A, XM_011521856.2:c.*533G>A, XM_011521856.1:c.*533G>A, XM_047432918.1:c.*533G>A, XM_047432922.1:c.*533G>A, XM_047432916.1:c.*533G>A, XM_047432919.1:c.*533G>A, XM_011521852.1:c.*533G>A, XM_047432917.1:c.*533G>A, XM_047432920.1:c.*533G>A, XM_047432923.1:c.*533G>A, XM_011521854.1:c.*533G>A, XM_047432921.1:c.*533G>A

Select item 147972181515.

rs1479721815 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:55204925 (GRCh38)
15:55497123 (GRCh37)
Canonical SPDI:: NC_000015.10:55204924:G:T
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55204925G>T, NC_000015.9:g.55497123G>T, NG_009103.1:g.89879C>A, NM_004580.5:c.*582C>A, NM_004580.4:c.*582C>A, NM_183235.3:c.*582C>A, NM_183235.2:c.*582C>A, NM_183236.3:c.*582C>A, NM_183236.2:c.*582C>A, NM_183234.2:c.*582C>A, XM_005254576.6:c.*582C>A, XM_005254576.5:c.*582C>A, XM_005254576.4:c.*582C>A, XM_005254576.3:c.*582C>A, XM_005254576.2:c.*582C>A, XM_005254576.1:c.*582C>A, XM_011521855.4:c.*582C>A, XM_011521855.3:c.*582C>A, XM_011521855.2:c.*582C>A, XM_011521855.1:c.*582C>A, XM_011521856.3:c.*582C>A, XM_011521856.2:c.*582C>A, XM_011521856.1:c.*582C>A, XM_047432918.1:c.*582C>A, XM_047432922.1:c.*582C>A, XM_047432916.1:c.*582C>A, XM_047432919.1:c.*582C>A, XM_011521852.1:c.*582C>A, XM_047432917.1:c.*582C>A, XM_047432920.1:c.*582C>A, XM_047432923.1:c.*582C>A, XM_011521854.1:c.*582C>A, XM_047432921.1:c.*582C>A

Select item 147952944816.

rs1479529448 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:55205448 (GRCh38)
15:55497646 (GRCh37)
Canonical SPDI:: NC_000015.10:55205447:A:G
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000015.10:g.55205448A>G, NC_000015.9:g.55497646A>G, NG_009103.1:g.89356T>C, NM_004580.5:c.*59T>C, NM_004580.4:c.*59T>C, NM_183235.3:c.*59T>C, NM_183235.2:c.*59T>C, NM_183236.3:c.*59T>C, NM_183236.2:c.*59T>C, NM_183234.2:c.*59T>C, XM_005254576.6:c.*59T>C, XM_005254576.5:c.*59T>C, XM_005254576.4:c.*59T>C, XM_005254576.3:c.*59T>C, XM_005254576.2:c.*59T>C, XM_005254576.1:c.*59T>C, XM_011521855.4:c.*59T>C, XM_011521855.3:c.*59T>C, XM_011521855.2:c.*59T>C, XM_011521855.1:c.*59T>C, XM_011521856.3:c.*59T>C, XM_011521856.2:c.*59T>C, XM_011521856.1:c.*59T>C, XM_047432918.1:c.*59T>C, XM_047432922.1:c.*59T>C, XM_047432916.1:c.*59T>C, XM_047432919.1:c.*59T>C, XM_011521852.1:c.*59T>C, XM_047432917.1:c.*59T>C, XM_047432920.1:c.*59T>C, XM_047432923.1:c.*59T>C, XM_011521854.1:c.*59T>C, XM_047432921.1:c.*59T>C

Select item 147906737817.

rs1479067378 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:55230433 (GRCh38)
15:55522631 (GRCh37)
Canonical SPDI:: NC_000015.10:55230432:G:A
Gene:: RAB27A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.55230433G>A, NC_000015.9:g.55522631G>A, NG_009103.1:g.64371C>T, NM_004580.5:c.207C>T, NM_004580.4:c.207C>T, NM_183235.3:c.207C>T, NM_183235.2:c.207C>T, NM_183236.3:c.207C>T, NM_183236.2:c.207C>T, NM_183234.2:c.207C>T, XM_005254576.6:c.207C>T, XM_005254576.5:c.207C>T, XM_005254576.4:c.207C>T, XM_005254576.3:c.207C>T, XM_005254576.2:c.207C>T, XM_005254576.1:c.207C>T, XM_011521855.4:c.207C>T, XM_011521855.3:c.207C>T, XM_011521855.2:c.207C>T, XM_011521855.1:c.207C>T, XM_011521856.3:c.207C>T, XM_011521856.2:c.207C>T, XM_011521856.1:c.207C>T, XM_047432918.1:c.207C>T, XM_047432922.1:c.207C>T, XM_047432916.1:c.207C>T, XM_047432919.1:c.207C>T, XM_011521852.1:c.207C>T, XM_047432917.1:c.207C>T, XM_047432920.1:c.207C>T, XM_047432923.1:c.207C>T, XM_011521854.1:c.207C>T, XM_047432921.1:c.207C>T

Select item 147878204818.

rs1478782048 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:55270257 (GRCh38)
15:55562455 (GRCh37)
Canonical SPDI:: NC_000015.10:55270256:T:C
Gene:: RAB27A (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.55270257T>C, NC_000015.9:g.55562455T>C, NG_009103.1:g.24547A>G, NM_004580.5:c.-115A>G, NM_004580.4:c.-115A>G, NM_183235.3:c.-115A>G, NM_183235.2:c.-115A>G, NM_183236.3:c.-115A>G, NM_183236.2:c.-115A>G, NM_183234.2:c.-204A>G, XM_011521855.4:c.-218A>G, XM_011521855.3:c.-218A>G, XM_011521855.2:c.-218A>G, XM_011521855.1:c.-218A>G, XM_047432918.1:c.-115A>G, XM_047432916.1:c.-115A>G, XM_047432919.1:c.-115A>G, XM_011521852.1:c.-331A>G, XM_047432917.1:c.-115A>G, XM_047432920.1:c.-307A>G, XM_011521854.1:c.-204A>G, XM_047432921.1:c.-204A>G

Select item 147847501619.

rs1478475016 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:55270233 (GRCh38)
15:55562431 (GRCh37)
Canonical SPDI:: NC_000015.10:55270232:A:T
Gene:: RAB27A (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00003/8 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000015.10:g.55270233A>T, NC_000015.9:g.55562431A>T, NG_009103.1:g.24571T>A, NM_004580.5:c.-91T>A, NM_004580.4:c.-91T>A, NM_183235.3:c.-91T>A, NM_183235.2:c.-91T>A, NM_183236.3:c.-91T>A, NM_183236.2:c.-91T>A, NM_183234.2:c.-180T>A, XM_011521855.4:c.-194T>A, XM_011521855.3:c.-194T>A, XM_011521855.2:c.-194T>A, XM_011521855.1:c.-194T>A, XM_047432918.1:c.-91T>A, XM_047432916.1:c.-91T>A, XM_047432919.1:c.-91T>A, XM_011521852.1:c.-307T>A, XM_047432917.1:c.-91T>A, XM_047432920.1:c.-283T>A, XM_011521854.1:c.-180T>A, XM_047432921.1:c.-180T>A

Select item 147841754820.

rs1478417548 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 15:55203441 (GRCh38)
15:55495639 (GRCh37)
Canonical SPDI:: NC_000015.10:55203438:AGAG:AG
Gene:: RAB27A (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AGAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.55203439AG[1], NC_000015.9:g.55495637AG[1], NG_009103.1:g.91362CT[1], NM_004580.5:c.*2065CT[1], NM_004580.4:c.*2065CT[1], NM_183235.3:c.*2065CT[1], NM_183235.2:c.*2065CT[1], NM_183236.3:c.*2065CT[1], NM_183236.2:c.*2065CT[1], NM_183234.2:c.*2065CT[1], XM_005254576.6:c.*2065CT[1], XM_005254576.5:c.*2065CT[1], XM_005254576.4:c.*2065CT[1], XM_005254576.3:c.*2065CT[1], XM_005254576.2:c.*2065CT[1], XM_005254576.1:c.*2065CT[1], XM_011521855.4:c.*2065CT[1], XM_011521855.3:c.*2065CT[1], XM_011521855.2:c.*2065CT[1], XM_011521855.1:c.*2065CT[1], XM_011521856.3:c.*2065CT[1], XM_011521856.2:c.*2065CT[1], XM_011521856.1:c.*2065CT[1], XM_047432918.1:c.*2065CT[1], XM_047432922.1:c.*2065CT[1], XM_047432916.1:c.*2065CT[1], XM_047432919.1:c.*2065CT[1], XM_011521852.1:c.*2065CT[1], XM_047432917.1:c.*2065CT[1], XM_047432920.1:c.*2065CT[1], XM_047432923.1:c.*2065CT[1], XM_011521854.1:c.*2065CT[1], XM_047432921.1:c.*2065CT[1]

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