SNP Links for Nucleotide (Select 430768625) - SNP

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Links from Nucleotide

Items: 1 to 20 of 3573

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Select item 14904507561.

rs1490450756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42682221 (GRCh38)
3:42723713 (GRCh37)
Canonical SPDI:: NC_000003.12:42682220:C:A
Gene:: LOC124906232 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.42682221C>A, NC_000003.11:g.42723713C>A, NG_033035.1:g.1703C>A

Select item 14896538982.

rs1489653898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:42682167 (GRCh38)
3:42723659 (GRCh37)
Canonical SPDI:: NC_000003.12:42682166:T:G
Gene:: LOC124906232 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.42682167T>G, NC_000003.11:g.42723659T>G, NG_033035.1:g.1649T>G

Select item 14895634643.

rs1489563464 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42683118 (GRCh38)
3:42724610 (GRCh37)
Canonical SPDI:: NC_000003.12:42683117:C:T
Gene:: LOC124906232 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42683118C>T, NC_000003.11:g.42724610C>T, NG_033035.1:g.2600C>T, XR_007095893.1:n.684G>A

Select item 14894915384.

rs1489491538 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42685229 (GRCh38)
3:42726721 (GRCh37)
Canonical SPDI:: NC_000003.12:42685228:C:T
Gene:: KLHL40 (Varview), LOC124906232 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42685229C>T, NC_000003.11:g.42726721C>T, NG_033035.1:g.4711C>T

Select item 14893324025.

rs1489332402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42693000 (GRCh38)
3:42734492 (GRCh37)
Canonical SPDI:: NC_000003.12:42692999:A:G
Gene:: HHATL (Varview), KLHL40 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42693000A>G, NC_000003.11:g.42734492A>G, NG_033035.1:g.12482A>G

Select item 14889867096.

rs1488986709 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42691938 (GRCh38)
3:42733430 (GRCh37)
Canonical SPDI:: NC_000003.12:42691937:C:T
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42691938C>T, NC_000003.11:g.42733430C>T, NG_033035.1:g.11420C>T, NM_152393.4:c.1811C>T, NM_152393.3:c.1811C>T, NP_689606.2:p.Ala604Val

Select item 14888716787.

rs1488871678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:42681435 (GRCh38)
3:42722927 (GRCh37)
Canonical SPDI:: NC_000003.12:42681434:G:A
Gene:: LOC124906232 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000045/12 (TOPMED)
A=0.000106/2 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.42681435G>A, NC_000003.11:g.42722927G>A, NG_033035.1:g.917G>A

Select item 14887698868.

rs1488769886 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 3:42686186 (GRCh38)
3:42727678 (GRCh37)
Canonical SPDI:: NC_000003.12:42686183:AGAAG:AG
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.42686186_42686188del, NC_000003.11:g.42727678_42727680del, NG_033035.1:g.5668_5670del, NM_152393.4:c.568_570del, NM_152393.3:c.568_570del, NP_689606.2:p.Lys190del

Select item 14886769039.

rs1488676903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:42682641 (GRCh38)
3:42724133 (GRCh37)
Canonical SPDI:: NC_000003.12:42682640:C:A
Gene:: LOC124906232 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_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_000003.12:g.42682641C>A, NC_000003.11:g.42724133C>A, NG_033035.1:g.2123C>A

Select item 148837985610.

rs1488379856 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 3:42691734 (GRCh38)
3:42733226 (GRCh37)
Canonical SPDI:: NC_000003.12:42691733:G:A,NC_000003.12:42691733:G:C,NC_000003.12:42691733:G:T
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.42691734G>A, NC_000003.12:g.42691734G>C, NC_000003.12:g.42691734G>T, NC_000003.11:g.42733226G>A, NC_000003.11:g.42733226G>C, NC_000003.11:g.42733226G>T, NG_033035.1:g.11216G>A, NG_033035.1:g.11216G>C, NG_033035.1:g.11216G>T

Select item 148834864311.

rs1488348643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42694146 (GRCh38)
3:42735638 (GRCh37)
Canonical SPDI:: NC_000003.12:42694145:C:T
Gene:: HHATL (Varview)
Functional Consequence:: intron_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_000003.12:g.42694146C>T, NC_000003.11:g.42735638C>T, NG_033035.1:g.13628C>T

Select item 148827977212.

rs1488279772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:42693887 (GRCh38)
3:42735379 (GRCh37)
Canonical SPDI:: NC_000003.12:42693886:C:G
Gene:: HHATL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42693887C>G, NC_000003.11:g.42735379C>G, NG_033035.1:g.13369C>G

Select item 148811529213.

rs1488115292 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42692894 (GRCh38)
3:42734386 (GRCh37)
Canonical SPDI:: NC_000003.12:42692893:A:G
Gene:: HHATL (Varview), KLHL40 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.42692894A>G, NC_000003.11:g.42734386A>G, NG_033035.1:g.12376A>G

Select item 148788324914.

rs1487883249 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 3:42681960 (GRCh38)
3:42723453 (GRCh37)
Canonical SPDI:: NC_000003.12:42681960:TA:TATA
Gene:: LOC124906232 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATA=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.42681961_42681962dup, NC_000003.11:g.42723453_42723454dup, NG_033035.1:g.1443_1444dup

Select item 148768790815.

rs1487687908 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:42683061 (GRCh38)
3:42724553 (GRCh37)
Canonical SPDI:: NC_000003.12:42683060:C:T
Gene:: LOC124906232 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_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_000003.12:g.42683061C>T, NC_000003.11:g.42724553C>T, NG_033035.1:g.2543C>T, XR_007095893.1:n.741G>A

Select item 148722108016.

rs1487221080 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42689330 (GRCh38)
3:42730822 (GRCh37)
Canonical SPDI:: NC_000003.12:42689329:A:G
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.42689330A>G, NC_000003.11:g.42730822A>G, NG_033035.1:g.8812A>G

Select item 148670677317.

rs1486706773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:42683443 (GRCh38)
3:42724935 (GRCh37)
Canonical SPDI:: NC_000003.12:42683442:A:G
Gene:: LOC124906232 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.42683443A>G, NC_000003.11:g.42724935A>G, NG_033035.1:g.2925A>G, XR_007095893.1:n.359T>C

Select item 148665186518.

rs1486651865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:42691250 (GRCh38)
3:42732742 (GRCh37)
Canonical SPDI:: NC_000003.12:42691249:G:C
Gene:: KLHL40 (Varview)
Functional Consequence:: intron_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_000003.12:g.42691250G>C, NC_000003.11:g.42732742G>C, NG_033035.1:g.10732G>C

Select item 148656617019.

rs1486566170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 3:42688646 (GRCh38)
3:42730138 (GRCh37)
Canonical SPDI:: NC_000003.12:42688645:C:A,NC_000003.12:42688645:C:G,NC_000003.12:42688645:C:T
Gene:: KLHL40 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,synonymous_variant
Clinical significance:: likely-pathogenic,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000012/3 (GnomAD_exomes)
G=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.42688646C>A, NC_000003.12:g.42688646C>G, NC_000003.12:g.42688646C>T, NC_000003.11:g.42730138C>A, NC_000003.11:g.42730138C>G, NC_000003.11:g.42730138C>T, NG_033035.1:g.8128C>A, NG_033035.1:g.8128C>G, NG_033035.1:g.8128C>T, NM_152393.4:c.1350C>A, NM_152393.4:c.1350C>G, NM_152393.4:c.1350C>T, NM_152393.3:c.1350C>A, NM_152393.3:c.1350C>G, NM_152393.3:c.1350C>T, NP_689606.2:p.Tyr450Ter, NP_689606.2:p.Tyr450Ter

Select item 148644959920.

rs1486449599 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:42694231 (GRCh38)
3:42735723 (GRCh37)
Canonical SPDI:: NC_000003.12:42694230:A:C
Gene:: HHATL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.42694231A>C, NC_000003.11:g.42735723A>C, NG_033035.1:g.13713A>C

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