SNP Links for Nucleotide (Select 1034301421) - SNP

Links from Nucleotide

Items: 1 to 20 of 4126

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Select item 14915877331.

rs1491587733 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:3074891 (GRCh38)
4:3076618 (GRCh37)
Canonical SPDI:: NC_000004.12:3074890:GC:
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: -=0.0009/9 (ExAC)
HGVS:: NC_000004.12:g.3074891_3074892del, NC_000004.11:g.3076618_3076619del, NG_009378.1:g.5217_5218del, NM_002111.8:c.72_73del, NM_002111.7:c.72_73del, NM_002111.6:c.72_73del, NM_001388492.1:c.72_73del, NG_052623.1:g.115_116del, NP_002102.4:p.Gln25fs, NP_001375421.1:p.Gln25fs

Select item 14915454152.

rs1491545415 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:3074927 (GRCh38)
4:3076654 (GRCh37)
Canonical SPDI:: NC_000004.12:3074926:GC:
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000366/36 (GnomAD_exomes)
-=0.000556/6 (ExAC)
-=0.001687/219 (GnomAD)
-=0.013333/8 (NorthernSweden)
HGVS:: NC_000004.12:g.3074927_3074928del, NC_000004.11:g.3076654_3076655del, NG_009378.1:g.5253_5254del, NM_002111.8:c.108_109del, NM_002111.7:c.108_109del, NM_002111.6:c.108_109del, NM_001388492.1:c.108_109del, NG_052623.1:g.151_152del, NP_002102.4:p.Gln37fs, NP_001375421.1:p.Gln37fs

Select item 14913249543.

rs1491324954 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 4:3074929 (GRCh38)
4:3076656 (GRCh37)
Canonical SPDI:: NC_000004.12:3074928:AG:
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000115/11 (GnomAD_exomes)
-=0.000142/4 (TOMMO)
-=0.000241/27 (GnomAD)
-=0.000568/1 (Korea1K)
HGVS:: NC_000004.12:g.3074929_3074930del, NC_000004.11:g.3076656_3076657del, NG_009378.1:g.5255_5256del, NM_002111.8:c.110_111del, NM_002111.7:c.110_111del, NM_002111.6:c.110_111del, NM_001388492.1:c.110_111insG, NM_001388492.1:c.111del, NG_052623.1:g.153_154del, NP_002102.4:p.Gln37fs

Select item 14911439004.

rs1491143900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGGCAGCA [Show Flanks]
Chromosome:: 4:3074929 (GRCh38)
4:3076657 (GRCh37)
Canonical SPDI:: NC_000004.12:3074929:GCAGCA:GCAGCAGCGGCAGCA
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,inframe_insertion,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: GCAGCAGCGGCAGCA=0./0 (ALFA)
GCAGCAGCG=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.3074930_3074935GCA[2]GCGGCAGCA[1], NC_000004.11:g.3076657_3076662GCA[2]GCGGCAGCA[1], NG_009378.1:g.5256_5261GCA[2]GCGGCAGCA[1], NM_002111.8:c.111_116GCA[2]GCGGCAGCA[1], NM_002111.7:c.111_116GCA[2]GCGGCAGCA[1], NM_002111.6:c.111_116GCA[2]GCGGCAGCA[1], NG_052623.1:g.154_159GCA[2]GCGGCAGCA[1], NP_002102.4:p.Gln40_Pro41insArgGlnGln

Select item 14910544915.

rs1491054491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACA [Show Flanks]
Chromosome:: 4:3074921 (GRCh38)
4:3076649 (GRCh37)
Canonical SPDI:: NC_000004.12:3074921:CA:CAACA
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,inframe_insertion,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CAACA=0./0 (ALFA)
CAA=0.000004/1 (TOPMED)
CAA=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.3074923_3074924insACA, NC_000004.11:g.3076650_3076651insACA, NG_009378.1:g.5249_5250insACA, NM_002111.8:c.104_105insACA, NM_002111.7:c.104_105insACA, NM_002111.6:c.104_105insACA, NM_001388492.1:c.104_105insACA, NG_052623.1:g.147_148insACA, NP_002102.4:p.Gln40dup, NP_001375421.1:p.Gln38dup

Select item 14910401706.

rs1491040170 [Homo sapiens]

Variant type:: INS
Alleles:: ->ACAGCC,CC [Show Flanks]
Chromosome:: 4:3074932 (GRCh38)
4:3076660 (GRCh37)
Canonical SPDI:: NC_000004.12:3074932::ACAGCC,NC_000004.12:3074932::CC
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: ACAGCC=0.00548/65 (ALFA)
CC=0.000147/17 (GnomAD)
HGVS:: NC_000004.12:g.3074932_3074933insACAGCC, NC_000004.12:g.3074932_3074933insCC, NC_000004.11:g.3076659_3076660insACAGCC, NC_000004.11:g.3076659_3076660insCC, NG_009378.1:g.5258_5259insACAGCC, NG_009378.1:g.5258_5259insCC, NM_002111.8:c.113_114insACAGCC, NM_002111.8:c.113_114insCC, NM_002111.7:c.113_114insACAGCC, NM_002111.7:c.113_114insCC, NM_002111.6:c.113_114insACAGCC, NM_002111.6:c.113_114insCC, NG_052623.1:g.156_157insACAGCC, NG_052623.1:g.156_157insCC, NP_002102.4:p.Gln40_Pro41insProGln, NP_002102.4:p.Gln38fs

Select item 14908876987.

rs1490887698 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:3243670 (GRCh38)
4:3245397 (GRCh37)
Canonical SPDI:: NC_000004.12:3243669:C:T
Gene:: HTT (Varview), MSANTD1 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.3243670C>T, NC_000004.11:g.3245397C>T, NG_009378.1:g.173996C>T, NM_002111.8:c.*3611C>T, NM_002111.7:c.*3611C>T, NM_002111.6:c.*3611C>T, NM_001388492.1:c.*3611C>T

Select item 14908811628.

rs1490881162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:3239876 (GRCh38)
4:3241603 (GRCh37)
Canonical SPDI:: NC_000004.12:3239875:G:A
Gene:: HTT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000004.12:g.3239876G>A, NC_000004.11:g.3241603G>A, NG_009378.1:g.170202G>A, NM_002111.8:c.9252G>A, NM_002111.7:c.9252G>A, NM_002111.6:c.9252G>A, NM_001388492.1:c.9246G>A

Select item 14901936539.

rs1490193653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:3174769 (GRCh38)
4:3176496 (GRCh37)
Canonical SPDI:: NC_000004.12:3174768:C:A
Gene:: HTT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000004.12:g.3174769C>A, NC_000004.11:g.3176496C>A, NG_009378.1:g.105095C>A, NM_002111.8:c.4221C>A, NM_002111.7:c.4221C>A, NM_002111.6:c.4221C>A, NM_001388492.1:c.4215C>A

Select item 148996923710.

rs1489969237 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:3099279 (GRCh38)
4:3101006 (GRCh37)
Canonical SPDI:: NC_000004.12:3099278:C:A
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.3099279C>A, NC_000004.11:g.3101006C>A, NG_009378.1:g.29605C>A, NM_002111.8:c.359C>A, NM_002111.7:c.359C>A, NM_002111.6:c.359C>A, NM_001388492.1:c.353C>A, NP_002102.4:p.Ser120Tyr, NP_001375421.1:p.Ser118Tyr

Select item 148984056111.

rs1489840561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:3235308 (GRCh38)
4:3237035 (GRCh37)
Canonical SPDI:: NC_000004.12:3235307:G:A
Gene:: HTT (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3235308G>A, NC_000004.11:g.3237035G>A, NG_009378.1:g.165634G>A, NM_002111.8:c.8487G>A, NM_002111.7:c.8487G>A, NM_002111.6:c.8487G>A, NM_001388492.1:c.8481G>A

Select item 148923268512.

rs1489232685 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:3240375 (GRCh38)
4:3242102 (GRCh37)
Canonical SPDI:: NC_000004.12:3240374:A:T
Gene:: HTT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.3240375A>T, NC_000004.11:g.3242102A>T, NG_009378.1:g.170701A>T, NM_002111.8:c.*316A>T, NM_002111.7:c.*316A>T, NM_002111.6:c.*316A>T, NM_001388492.1:c.*316A>T

Select item 148912237913.

rs1489122379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:3240912 (GRCh38)
4:3242639 (GRCh37)
Canonical SPDI:: NC_000004.12:3240911:G:T
Gene:: HTT (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.3240912G>T, NC_000004.11:g.3242639G>T, NG_009378.1:g.171238G>T, NM_002111.8:c.*853G>T, NM_002111.7:c.*853G>T, NM_002111.6:c.*853G>T, NM_001388492.1:c.*853G>T

Select item 148882090714.

rs1488820907 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:3129979 (GRCh38)
4:3131706 (GRCh37)
Canonical SPDI:: NC_000004.12:3129978:A:G
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.3129979A>G, NC_000004.11:g.3131706A>G, NG_009378.1:g.60305A>G, NM_002111.8:c.1805A>G, NM_002111.7:c.1805A>G, NM_002111.6:c.1805A>G, NM_001388492.1:c.1799A>G, NP_002102.4:p.Asp602Gly, NP_001375421.1:p.Asp600Gly

Select item 148880935615.

rs1488809356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:3187839 (GRCh38)
4:3189566 (GRCh37)
Canonical SPDI:: NC_000004.12:3187838:C:A
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3187839C>A, NC_000004.11:g.3189566C>A, NG_009378.1:g.118165C>A, NM_002111.8:c.5184C>A, NM_002111.7:c.5184C>A, NM_002111.6:c.5184C>A, NM_001388492.1:c.5178C>A, NP_002102.4:p.His1728Gln, NP_001375421.1:p.His1726Gln

Select item 148875768716.

rs1488757687 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:3180563 (GRCh38)
4:3182290 (GRCh37)
Canonical SPDI:: NC_000004.12:3180562:G:C
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_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=0.000015/4 (TOPMED)
HGVS:: NC_000004.12:g.3180563G>C, NC_000004.11:g.3182290G>C, NG_009378.1:g.110889G>C, NM_002111.8:c.4667G>C, NM_002111.7:c.4667G>C, NM_002111.6:c.4667G>C, NM_001388492.1:c.4661G>C, NP_002102.4:p.Gly1556Ala, NP_001375421.1:p.Gly1554Ala

Select item 148867886217.

rs1488678862 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:3240045 (GRCh38)
4:3241772 (GRCh37)
Canonical SPDI:: NC_000004.12:3240044:G:T
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.3240045G>T, NC_000004.11:g.3241772G>T, NG_009378.1:g.170371G>T, NM_002111.8:c.9421G>T, NM_002111.7:c.9421G>T, NM_002111.6:c.9421G>T, NM_001388492.1:c.9415G>T, NP_002102.4:p.Val3141Phe, NP_001375421.1:p.Val3139Phe

Select item 148850349118.

rs1488503491 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:3142824 (GRCh38)
4:3144551 (GRCh37)
Canonical SPDI:: NC_000004.12:3142823:C:G
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3142824C>G, NC_000004.11:g.3144551C>G, NG_009378.1:g.73150C>G, NM_002111.8:c.3010C>G, NM_002111.7:c.3010C>G, NM_002111.6:c.3010C>G, NM_001388492.1:c.3004C>G, NP_002102.4:p.Leu1004Val, NP_001375421.1:p.Leu1002Val

Select item 148788972419.

rs1487889724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:3131310 (GRCh38)
4:3133037 (GRCh37)
Canonical SPDI:: NC_000004.12:3131309:G:A
Gene:: HTT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.3131310G>A, NC_000004.11:g.3133037G>A, NG_009378.1:g.61636G>A, NM_002111.8:c.2017G>A, NM_002111.7:c.2017G>A, NM_002111.6:c.2017G>A, NM_001388492.1:c.2011G>A, NP_002102.4:p.Gly673Arg, NP_001375421.1:p.Gly671Arg

Select item 148788875920.

rs1487888759 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 4:3074938 (GRCh38)
4:3076665 (GRCh37)
Canonical SPDI:: NC_000004.12:3074937:A:
Gene:: HTT (Varview), HTT-AS (Varview)
Functional Consequence:: upstream_transcript_variant,frameshift_variant,coding_sequence_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: -=0.000071/1 (TOMMO)
-=0.000271/35 (GnomAD)
HGVS:: NC_000004.12:g.3074938del, NC_000004.11:g.3076665del, NG_009378.1:g.5264del, NM_002111.8:c.119del, NM_002111.7:c.119del, NM_002111.6:c.119del, NM_001388492.1:c.113del, NG_052623.1:g.162del, NP_002102.4:p.Gln40fs, NP_001375421.1:p.Gln38fs

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