SNP Links for Gene (Select 1854) - SNP

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Select item 14905106651.

rs1490510665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:48342651 (GRCh38)
15:48634848 (GRCh37)
Canonical SPDI:: NC_000015.10:48342650:C:A,NC_000015.10:48342650:C:T
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000318/5 (TOMMO)
HGVS:: NC_000015.10:g.48342651C>A, NC_000015.10:g.48342651C>T, NC_000015.9:g.48634848C>A, NC_000015.9:g.48634848C>T, NG_029497.1:g.16228C>A, NG_029497.1:g.16228C>T, NM_001948.4:c.*573C>A, NM_001948.4:c.*573C>T, NM_001948.3:c.*573C>A, NM_001948.3:c.*573C>T, NM_001025248.2:c.*573C>A, NM_001025248.2:c.*573C>T, NM_001025248.1:c.*573C>A, NM_001025248.1:c.*573C>T, NM_001330286.2:c.*573C>A, NM_001330286.2:c.*573C>T, NM_001330286.1:c.*573C>A, NM_001330286.1:c.*573C>T, NM_001025249.1:c.*573C>A, NM_001025249.1:c.*573C>T

Select item 14904866002.

rs1490486600 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:48334175 (GRCh38)
15:48626372 (GRCh37)
Canonical SPDI:: NC_000015.10:48334174:A:G
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.48334175A>G, NC_000015.9:g.48626372A>G, NG_029497.1:g.7752A>G

Select item 14899820223.

rs1489982022 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:48333163 (GRCh38)
15:48625360 (GRCh37)
Canonical SPDI:: NC_000015.10:48333162:C:T
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_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_000015.10:g.48333163C>T, NC_000015.9:g.48625360C>T, NG_029497.1:g.6740C>T

Select item 14897823044.

rs1489782304 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:48333557 (GRCh38)
15:48625754 (GRCh37)
Canonical SPDI:: NC_000015.10:48333556:G:T
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48333557G>T, NC_000015.9:g.48625754G>T, NG_029497.1:g.7134G>T

Select item 14897512575.

rs1489751257 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:48336400 (GRCh38)
15:48628597 (GRCh37)
Canonical SPDI:: NC_000015.10:48336399:G:A,NC_000015.10:48336399:G:C
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48336400G>A, NC_000015.10:g.48336400G>C, NC_000015.9:g.48628597G>A, NC_000015.9:g.48628597G>C, NG_029497.1:g.9977G>A, NG_029497.1:g.9977G>C

Select item 14895889826.

rs1489588982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:48331145 (GRCh38)
15:48623342 (GRCh37)
Canonical SPDI:: NC_000015.10:48331144:C:A
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000021/2 (GnomAD_exomes)
A=0.000023/6 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.48331145C>A, NC_000015.9:g.48623342C>A, NG_029497.1:g.4722C>A, NM_001330286.2:c.-22C>A, NM_001330286.1:c.-22C>A

Select item 14892982747.

rs1489298274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 15:48333925 (GRCh38)
15:48626122 (GRCh37)
Canonical SPDI:: NC_000015.10:48333924:T:C,NC_000015.10:48333924:T:G
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48333925T>C, NC_000015.10:g.48333925T>G, NC_000015.9:g.48626122T>C, NC_000015.9:g.48626122T>G, NG_029497.1:g.7502T>C, NG_029497.1:g.7502T>G

Select item 14892362838.

rs1489236283 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:48334871 (GRCh38)
15:48627068 (GRCh37)
Canonical SPDI:: NC_000015.10:48334870:T:G
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.48334871T>G, NC_000015.9:g.48627068T>G, NG_029497.1:g.8448T>G

Select item 14892264149.

rs1489226414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48336643 (GRCh38)
15:48628840 (GRCh37)
Canonical SPDI:: NC_000015.10:48336642:T:C
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.48336643T>C, NC_000015.9:g.48628840T>C, NG_029497.1:g.10220T>C

Select item 148918563410.

rs1489185634 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:48335985 (GRCh38)
15:48628182 (GRCh37)
Canonical SPDI:: NC_000015.10:48335984:G:T
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48335985G>T, NC_000015.9:g.48628182G>T, NG_029497.1:g.9562G>T

Select item 148900392911.

rs1489003929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48339317 (GRCh38)
15:48631514 (GRCh37)
Canonical SPDI:: NC_000015.10:48339316:T:C
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000015.10:g.48339317T>C, NC_000015.9:g.48631514T>C, NG_029497.1:g.12894T>C

Select item 148900276412.

rs1489002764 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:48339988 (GRCh38)
15:48632185 (GRCh37)
Canonical SPDI:: NC_000015.10:48339987:T:C
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48339988T>C, NC_000015.9:g.48632185T>C, NG_029497.1:g.13565T>C

Select item 148858685413.

rs1488586854 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:48331523 (GRCh38)
15:48623720 (GRCh37)
Canonical SPDI:: NC_000015.10:48331522:C:A
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.48331523C>A, NC_000015.9:g.48623720C>A, NG_029497.1:g.5100C>A, NM_001025248.2:c.8C>A, NM_001025248.1:c.8C>A, NP_001020419.1:p.Pro3His

Select item 148801448714.

rs1488014487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48343773 (GRCh38)
15:48635970 (GRCh37)
Canonical SPDI:: NC_000015.10:48343772:G:A
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,downstream_transcript_variant,500B_downstream_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_000015.10:g.48343773G>A, NC_000015.9:g.48635970G>A, NG_029497.1:g.17350G>A

Select item 148763823915.

rs1487638239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48334348 (GRCh38)
15:48626545 (GRCh37)
Canonical SPDI:: NC_000015.10:48334347:G:A
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000015.10:g.48334348G>A, NC_000015.9:g.48626545G>A, NG_029497.1:g.7925G>A

Select item 148697780716.

rs1486977807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:48333268 (GRCh38)
15:48625465 (GRCh37)
Canonical SPDI:: NC_000015.10:48333267:A:T
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_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_000015.10:g.48333268A>T, NC_000015.9:g.48625465A>T, NG_029497.1:g.6845A>T

Select item 148674049817.

rs1486740498 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:48341997 (GRCh38)
15:48634194 (GRCh37)
Canonical SPDI:: NC_000015.10:48341996:A:C,NC_000015.10:48341996:A:G
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000015.10:g.48341997A>C, NC_000015.10:g.48341997A>G, NC_000015.9:g.48634194A>C, NC_000015.9:g.48634194A>G, NG_029497.1:g.15574A>C, NG_029497.1:g.15574A>G

Select item 148628883118.

rs1486288831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:48342091 (GRCh38)
15:48634288 (GRCh37)
Canonical SPDI:: NC_000015.10:48342090:G:A
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
HGVS:: NC_000015.10:g.48342091G>A, NC_000015.9:g.48634288G>A, NG_029497.1:g.15668G>A, NM_001948.4:c.*13G>A, NM_001948.3:c.*13G>A, NM_001025248.2:c.*13G>A, NM_001025248.1:c.*13G>A, NM_001330286.2:c.*13G>A, NM_001330286.1:c.*13G>A, NM_001025249.1:c.*13G>A

Select item 148599346219.

rs1485993462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:48331857 (GRCh38)
15:48624054 (GRCh37)
Canonical SPDI:: NC_000015.10:48331856:G:A,NC_000015.10:48331856:G:C
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000177/3 (TOMMO)
HGVS:: NC_000015.10:g.48331857G>A, NC_000015.10:g.48331857G>C, NC_000015.9:g.48624054G>A, NC_000015.9:g.48624054G>C, NG_029497.1:g.5434G>A, NG_029497.1:g.5434G>C, NG_074778.1:g.46G>A, NG_074778.1:g.46G>C

Select item 148582316920.

rs1485823169 has merged into rs28381128 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:48337975 (GRCh38)
15:48630172 (GRCh37)
Canonical SPDI:: NC_000015.10:48337971:ACACA:ACA
Gene:: DUT (Varview), LOC107984755 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000015.10:g.48337973CA[1], NC_000015.9:g.48630170CA[1], NG_029497.1:g.11550CA[1]

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