SNP Links for Nucleotide (Select 603845741) - SNP

Links from Nucleotide

Items: 1 to 20 of 8344

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Select item 14915849881.

rs1491584988 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA,TTTTTTA [Show Flanks]
Chromosome:: 20:453563 (GRCh38)
20:434208 (GRCh37)
Canonical SPDI:: NC_000020.11:453563::TTA,NC_000020.11:453563::TTTTTTA
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTA=0.000008/1 (GnomAD)
HGVS:: NC_000020.11:g.453563_453564insTTA, NC_000020.11:g.453563_453564insTTTTTTA, NC_000020.10:g.434207_434208insTTA, NC_000020.10:g.434207_434208insTTTTTTA, NG_034082.1:g.13990_13991insTAA, NG_034082.1:g.13990_13991insTAAAAAA

Select item 14915737142.

rs1491573714 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:453563 (GRCh38)
20:434207 (GRCh37)
Canonical SPDI:: NC_000020.11:453562:TG:
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000020.11:g.453563_453564del, NC_000020.10:g.434207_434208del, NG_034082.1:g.13990_13991del

Select item 14915331563.

rs1491533156 has merged into rs906051108 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC [Show Flanks]
Chromosome:: 20:434951 (GRCh38)
20:415595 (GRCh37)
Canonical SPDI:: NC_000020.11:434942:GCGCGCGCGC:GCGCGCGC,NC_000020.11:434942:GCGCGCGCGC:GCGCGCGCGCGC
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCGCGCGC=0./0 (ALFA)
-=0.000035/1 (TOMMO)
-=0.00005/7 (GnomAD)
HGVS:: NC_000020.11:g.434943GC[4], NC_000020.11:g.434943GC[6], NC_000020.10:g.415587GC[4], NC_000020.10:g.415587GC[6], NG_034082.1:g.32602GC[4], NG_034082.1:g.32602GC[6]

Select item 14915318264.

rs1491531826 has merged into rs5839859 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 20:454248 (GRCh38)
20:434892 (GRCh37)
Canonical SPDI:: NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:454236:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4/16 (GENOME_DK)
-=0.4469/2238 (1000Genomes)
HGVS:: NC_000020.11:g.454248_454252del, NC_000020.11:g.454249_454252del, NC_000020.11:g.454250_454252del, NC_000020.11:g.454251_454252del, NC_000020.11:g.454252del, NC_000020.11:g.454252dup, NC_000020.11:g.454250_454252dup, NC_000020.10:g.434892_434896del, NC_000020.10:g.434893_434896del, NC_000020.10:g.434894_434896del, NC_000020.10:g.434895_434896del, NC_000020.10:g.434896del, NC_000020.10:g.434896dup, NC_000020.10:g.434894_434896dup, NG_034082.1:g.13313_13317del, NG_034082.1:g.13314_13317del, NG_034082.1:g.13315_13317del, NG_034082.1:g.13316_13317del, NG_034082.1:g.13317del, NG_034082.1:g.13317dup, NG_034082.1:g.13315_13317dup

Select item 14914583115.

rs1491458311 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:458330 (GRCh38)
20:438974 (GRCh37)
Canonical SPDI:: NC_000020.11:458329:TA:
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.004637/55 (ALFA)
-=0.00562/780 (GnomAD)
-=0.006402/41 (1000Genomes)
HGVS:: NC_000020.11:g.458330_458331del, NC_000020.10:g.438974_438975del, NG_034082.1:g.9223_9224del

Select item 14914563786.

rs1491456378 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:454294 (GRCh38)
20:434939 (GRCh37)
Canonical SPDI:: NC_000020.11:454294::A
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.02403/285 (ALFA)
HGVS:: NC_000020.11:g.454294_454295insA, NC_000020.10:g.434938_434939insA, NG_034082.1:g.13259_13260insT

Select item 14914347937.

rs1491434793 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:454236 (GRCh38)
20:434880 (GRCh37)
Canonical SPDI:: NC_000020.11:454235:CA:
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00379/45 (ALFA)
-=0.00113/82 (GnomAD)
HGVS:: NC_000020.11:g.454236_454237del, NC_000020.10:g.434880_434881del, NG_034082.1:g.13317_13318del

Select item 14913987398.

rs1491398739 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:453540 (GRCh38)
20:434184 (GRCh37)
Canonical SPDI:: NC_000020.11:453539:AT:
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000020.11:g.453540_453541del, NC_000020.10:g.434184_434185del, NG_034082.1:g.14013_14014del

Select item 14913159849.

rs1491315984 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,G,GT,GTT,GTTT,GTTTT,GTTTTTTT,GTTTTTTTTT,GTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:446943 (GRCh38)
20:427588 (GRCh37)
Canonical SPDI:: NC_000020.11:446943::C,NC_000020.11:446943::G,NC_000020.11:446943::GT,NC_000020.11:446943::GTT,NC_000020.11:446943::GTTT,NC_000020.11:446943::GTTTT,NC_000020.11:446943::GTTTTTTT,NC_000020.11:446943::GTTTTTTTTT,NC_000020.11:446943::GTTTTTTTTTTTTTTTTTT
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00092/14 (ALFA)
HGVS:: NC_000020.11:g.446943_446944insC, NC_000020.11:g.446943_446944insG, NC_000020.11:g.446943_446944insGT, NC_000020.11:g.446943_446944insGTT, NC_000020.11:g.446943_446944insGTTT, NC_000020.11:g.446943_446944insGTTTT, NC_000020.11:g.446943_446944insGTTTTTTT, NC_000020.11:g.446943_446944insGTTTTTTTTT, NC_000020.11:g.446943_446944insGTTTTTTTTTTTTTTTTTT, NC_000020.10:g.427587_427588insC, NC_000020.10:g.427587_427588insG, NC_000020.10:g.427587_427588insGT, NC_000020.10:g.427587_427588insGTT, NC_000020.10:g.427587_427588insGTTT, NC_000020.10:g.427587_427588insGTTTT, NC_000020.10:g.427587_427588insGTTTTTTT, NC_000020.10:g.427587_427588insGTTTTTTTTT, NC_000020.10:g.427587_427588insGTTTTTTTTTTTTTTTTTT, NG_034082.1:g.20610_20611insG, NG_034082.1:g.20610_20611insC, NG_034082.1:g.20610_20611insAC, NG_034082.1:g.20610_20611insAAC, NG_034082.1:g.20610_20611insAAAC, NG_034082.1:g.20610_20611insAAAAC, NG_034082.1:g.20610_20611insAAAAAAAC, NG_034082.1:g.20610_20611insAAAAAAAAAC, NG_034082.1:g.20610_20611insAAAAAAAAAAAAAAAAAAC

Select item 149128280410.

rs1491282804 has merged into rs1157479385 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:453554 (GRCh38)
20:434198 (GRCh37)
Canonical SPDI:: NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:453540:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000045/12 (TOPMED)
HGVS:: NC_000020.11:g.453554_453563del, NC_000020.11:g.453557_453563del, NC_000020.11:g.453558_453563del, NC_000020.11:g.453562_453563del, NC_000020.11:g.453563del, NC_000020.11:g.453563dup, NC_000020.11:g.453562_453563dup, NC_000020.11:g.453561_453563dup, NC_000020.11:g.453560_453563dup, NC_000020.11:g.453559_453563dup, NC_000020.11:g.453558_453563dup, NC_000020.11:g.453557_453563dup, NC_000020.11:g.453556_453563dup, NC_000020.11:g.453555_453563dup, NC_000020.10:g.434198_434207del, NC_000020.10:g.434201_434207del, NC_000020.10:g.434202_434207del, NC_000020.10:g.434206_434207del, NC_000020.10:g.434207del, NC_000020.10:g.434207dup, NC_000020.10:g.434206_434207dup, NC_000020.10:g.434205_434207dup, NC_000020.10:g.434204_434207dup, NC_000020.10:g.434203_434207dup, NC_000020.10:g.434202_434207dup, NC_000020.10:g.434201_434207dup, NC_000020.10:g.434200_434207dup, NC_000020.10:g.434199_434207dup, NG_034082.1:g.14004_14013del, NG_034082.1:g.14007_14013del, NG_034082.1:g.14008_14013del, NG_034082.1:g.14012_14013del, NG_034082.1:g.14013del, NG_034082.1:g.14013dup, NG_034082.1:g.14012_14013dup, NG_034082.1:g.14011_14013dup, NG_034082.1:g.14010_14013dup, NG_034082.1:g.14009_14013dup, NG_034082.1:g.14008_14013dup, NG_034082.1:g.14007_14013dup, NG_034082.1:g.14006_14013dup, NG_034082.1:g.14005_14013dup

Select item 149121827711.

rs1491218277 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>AA,TT [Show Flanks]
Chromosome:: 20:458331 (GRCh38)
20:438975 (GRCh37)
Canonical SPDI:: NC_000020.11:458330:A:AA,NC_000020.11:458330:A:TT
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.458331dup, NC_000020.11:g.458331delinsTT, NC_000020.10:g.438975dup, NC_000020.10:g.438975delinsTT, NG_034082.1:g.9223dup, NG_034082.1:g.9223delinsAA

Select item 149115625812.

rs1491156258 [Homo sapiens]

Variant type:: SNV:
Alleles:: GG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149115186213.

rs1491151862 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 20:446943 (GRCh38)
20:427587 (GRCh37)
Canonical SPDI:: NC_000020.11:446942:AT:
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000020.11:g.446943_446944del, NC_000020.10:g.427587_427588del, NG_034082.1:g.20610_20611del

Select item 149114151414.

rs1491141514 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 20:434942 (GRCh38)
20:415586 (GRCh37)
Canonical SPDI:: NC_000020.11:434941:TG:
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.434942_434943del, NC_000020.10:g.415586_415587del, NG_034082.1:g.32611_32612del

Select item 149082071715.

rs1490820717 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:441629 (GRCh38)
20:422273 (GRCh37)
Canonical SPDI:: NC_000020.11:441628:G:C
Gene:: TBC1D20 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000020.11:g.441629G>C, NC_000020.10:g.422273G>C, NG_034082.1:g.25925C>G, NM_144628.4:c.585C>G, NM_144628.3:c.585C>G, NM_144628.2:c.585C>G, NR_111901.2:n.713C>G, NR_111901.1:n.733C>G, NP_653229.1:p.Ile195Met

Select item 149053404816.

rs1490534048 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:454308 (GRCh38)
20:434952 (GRCh37)
Canonical SPDI:: NC_000020.11:454307:G:A
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000020.11:g.454308G>A, NC_000020.10:g.434952G>A, NG_034082.1:g.13246C>T

Select item 149031021517.

rs1490310215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:442497 (GRCh38)
20:423141 (GRCh37)
Canonical SPDI:: NC_000020.11:442496:A:T
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.442497A>T, NC_000020.10:g.423141A>T, NG_034082.1:g.25057T>A

Select item 149027192018.

rs1490271920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 20:442203 (GRCh38)
20:422847 (GRCh37)
Canonical SPDI:: NC_000020.11:442202:C:A
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000020.11:g.442203C>A, NC_000020.10:g.422847C>A, NG_034082.1:g.25351G>T

Select item 149025634919.

rs1490256349 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:455950 (GRCh38)
20:436594 (GRCh37)
Canonical SPDI:: NC_000020.11:455949:A:G
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_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_000020.11:g.455950A>G, NC_000020.10:g.436594A>G, NG_034082.1:g.11604T>C

Select item 149015906720.

rs1490159067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:456954 (GRCh38)
20:437598 (GRCh37)
Canonical SPDI:: NC_000020.11:456953:G:T
Gene:: TBC1D20 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.456954G>T, NC_000020.10:g.437598G>T, NG_034082.1:g.10600C>A

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