SNP Links for Gene (Select 56915) - SNP

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Select item 14914022031.

rs1491402203 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:41387791 (GRCh38)
19:41893697 (GRCh37)
Canonical SPDI:: NC_000019.10:41387791:G:GG
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41387792dup, NC_000019.9:g.41893697dup

Select item 14913148022.

rs1491314802 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:41395048 (GRCh38)
19:41900954 (GRCh37)
Canonical SPDI:: NC_000019.10:41395048::G
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.0001/2 (GnomAD)
HGVS:: NC_000019.10:g.41395048_41395049insG, NC_000019.9:g.41900953_41900954insG, NG_013004.1:g.2260_2261insG

Select item 14912977433.

rs1491297743 has merged into rs59002070 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 19:41395056 (GRCh38)
19:41900961 (GRCh37)
Canonical SPDI:: NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:41395047:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.4218/421 (GoNL)
A=0.4263/2135 (1000Genomes)
-=0.45/18 (GENOME_DK)
A=0.4542/268 (NorthernSweden)
HGVS:: NC_000019.10:g.41395056_41395060del, NC_000019.10:g.41395057_41395060del, NC_000019.10:g.41395058_41395060del, NC_000019.10:g.41395059_41395060del, NC_000019.10:g.41395060del, NC_000019.10:g.41395060dup, NC_000019.10:g.41395059_41395060dup, NC_000019.9:g.41900961_41900965del, NC_000019.9:g.41900962_41900965del, NC_000019.9:g.41900963_41900965del, NC_000019.9:g.41900964_41900965del, NC_000019.9:g.41900965del, NC_000019.9:g.41900965dup, NC_000019.9:g.41900964_41900965dup, NG_013004.1:g.2268_2272del, NG_013004.1:g.2269_2272del, NG_013004.1:g.2270_2272del, NG_013004.1:g.2271_2272del, NG_013004.1:g.2272del, NG_013004.1:g.2272dup, NG_013004.1:g.2271_2272dup

Select item 14911986414.

rs1491198641 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:41387792 (GRCh38)
19:41893697 (GRCh37)
Canonical SPDI:: NC_000019.10:41387790:AGA:A
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.41387792_41387793del, NC_000019.9:g.41893697_41893698del

Select item 14910337315.

rs1491033731 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:41389935 (GRCh38)
19:41895841 (GRCh37)
Canonical SPDI:: NC_000019.10:41389935::C
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.41389935_41389936insC, NC_000019.9:g.41895840_41895841insC

Select item 14907254356.

rs1490725435 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 19:41391392 (GRCh38)
19:41897297 (GRCh37)
Canonical SPDI:: NC_000019.10:41391391:A:C,NC_000019.10:41391391:A:T
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41391392A>C, NC_000019.10:g.41391392A>T, NC_000019.9:g.41897297A>C, NC_000019.9:g.41897297A>T

Select item 14906873847.

rs1490687384 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:41389146 (GRCh38)
19:41895051 (GRCh37)
Canonical SPDI:: NC_000019.10:41389145:A:C,NC_000019.10:41389145:A:G
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.41389146A>C, NC_000019.10:g.41389146A>G, NC_000019.9:g.41895051A>C, NC_000019.9:g.41895051A>G

Select item 14905969318.

rs1490596931 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:41396897 (GRCh38)
19:41902802 (GRCh37)
Canonical SPDI:: NC_000019.10:41396896:T:G
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.41396897T>G, NC_000019.9:g.41902802T>G, NG_013004.1:g.4109T>G

Select item 14903795079.

rs1490379507 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:41390303 (GRCh38)
19:41896208 (GRCh37)
Canonical SPDI:: NC_000019.10:41390302:T:C,NC_000019.10:41390302:T:G
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.41390303T>C, NC_000019.10:g.41390303T>G, NC_000019.9:g.41896208T>C, NC_000019.9:g.41896208T>G

Select item 149023426710.

rs1490234267 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:41392620 (GRCh38)
19:41898525 (GRCh37)
Canonical SPDI:: NC_000019.10:41392619:A:G
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41392620A>G, NC_000019.9:g.41898525A>G

Select item 148970518111.

rs1489705181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:41397006 (GRCh38)
19:41902911 (GRCh37)
Canonical SPDI:: NC_000019.10:41397005:G:C
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.41397006G>C, NC_000019.9:g.41902911G>C, NG_013004.1:g.4218G>C

Select item 148950873012.

rs1489508730 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:41399342 (GRCh38)
19:41905247 (GRCh37)
Canonical SPDI:: NC_000019.10:41399341:T:G
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.41399342T>G, NC_000019.9:g.41905247T>G, NG_013004.1:g.6554T>G

Select item 148947835613.

rs1489478356 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:41398216 (GRCh38)
19:41904121 (GRCh37)
Canonical SPDI:: NC_000019.10:41398215:G:T
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000019.10:g.41398216G>T, NC_000019.9:g.41904121G>T, NG_013004.1:g.5428G>T

Select item 148943984414.

rs1489439844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41395711 (GRCh38)
19:41901616 (GRCh37)
Canonical SPDI:: NC_000019.10:41395710:G:A
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41395711G>A, NC_000019.9:g.41901616G>A, NG_013004.1:g.2923G>A

Select item 148918990315.

rs1489189903 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:41392377 (GRCh38)
19:41898282 (GRCh37)
Canonical SPDI:: NC_000019.10:41392376:A:G,NC_000019.10:41392376:A:T
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.41392377A>G, NC_000019.10:g.41392377A>T, NC_000019.9:g.41898282A>G, NC_000019.9:g.41898282A>T

Select item 148886603016.

rs1488866030 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41392787 (GRCh38)
19:41898692 (GRCh37)
Canonical SPDI:: NC_000019.10:41392786:G:A
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.41392787G>A, NC_000019.9:g.41898692G>A

Select item 148868721717.

rs1488687217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:41392811 (GRCh38)
19:41898716 (GRCh37)
Canonical SPDI:: NC_000019.10:41392810:G:C
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.41392811G>C, NC_000019.9:g.41898716G>C, NG_013004.1:g.23G>C

Select item 148781445118.

rs1487814451 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:41395707 (GRCh38)
19:41901612 (GRCh37)
Canonical SPDI:: NC_000019.10:41395706:C:G,NC_000019.10:41395706:C:T
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.41395707C>G, NC_000019.10:g.41395707C>T, NC_000019.9:g.41901612C>G, NC_000019.9:g.41901612C>T, NG_013004.1:g.2919C>G, NG_013004.1:g.2919C>T

Select item 148770731319.

rs1487707313 has merged into rs11307304 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:41399341 (GRCh38)
19:41905246 (GRCh37)
Canonical SPDI:: NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:41399331:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: BCKDHA (Varview), EXOSC5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000057/15 (TOPMED)
-=0.226777/874 (ALSPAC)
HGVS:: NC_000019.10:g.41399341_41399353del, NC_000019.10:g.41399343_41399353del, NC_000019.10:g.41399344_41399353del, NC_000019.10:g.41399345_41399353del, NC_000019.10:g.41399346_41399353del, NC_000019.10:g.41399347_41399353del, NC_000019.10:g.41399348_41399353del, NC_000019.10:g.41399350_41399353del, NC_000019.10:g.41399351_41399353del, NC_000019.10:g.41399352_41399353del, NC_000019.10:g.41399353del, NC_000019.10:g.41399353dup, NC_000019.10:g.41399352_41399353dup, NC_000019.10:g.41399351_41399353dup, NC_000019.10:g.41399350_41399353dup, NC_000019.10:g.41399349_41399353dup, NC_000019.9:g.41905246_41905258del, NC_000019.9:g.41905248_41905258del, NC_000019.9:g.41905249_41905258del, NC_000019.9:g.41905250_41905258del, NC_000019.9:g.41905251_41905258del, NC_000019.9:g.41905252_41905258del, NC_000019.9:g.41905253_41905258del, NC_000019.9:g.41905255_41905258del, NC_000019.9:g.41905256_41905258del, NC_000019.9:g.41905257_41905258del, NC_000019.9:g.41905258del, NC_000019.9:g.41905258dup, NC_000019.9:g.41905257_41905258dup, NC_000019.9:g.41905256_41905258dup, NC_000019.9:g.41905255_41905258dup, NC_000019.9:g.41905254_41905258dup, NG_013004.1:g.6553_6565del, NG_013004.1:g.6555_6565del, NG_013004.1:g.6556_6565del, NG_013004.1:g.6557_6565del, NG_013004.1:g.6558_6565del, NG_013004.1:g.6559_6565del, NG_013004.1:g.6560_6565del, NG_013004.1:g.6562_6565del, NG_013004.1:g.6563_6565del, NG_013004.1:g.6564_6565del, NG_013004.1:g.6565del, NG_013004.1:g.6565dup, NG_013004.1:g.6564_6565dup, NG_013004.1:g.6563_6565dup, NG_013004.1:g.6562_6565dup, NG_013004.1:g.6561_6565dup

Select item 148749804020.

rs1487498040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:41387026 (GRCh38)
19:41892931 (GRCh37)
Canonical SPDI:: NC_000019.10:41387025:G:A
Gene:: EXOSC5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.41387026G>A, NC_000019.9:g.41892931G>A

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