SNP Links for Gene (Select 4734) - SNP

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Select item 14915829841.

rs1491582984 has merged into rs111359928 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCG>-,CG,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCG,CGCGCGCGTGCGTGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 15:55983309 (GRCh38)
15:56275507 (GRCh37)
Canonical SPDI:: NC_000015.10:55983303:GCGCGCGCG:GCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCGCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCGCGCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCGCGCGCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000015.10:55983303:GCGCGCGCG:GCGCGCGCGCGCGTGCGTGCGCGCGCGCGCG
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCGCG=0./0 (ALFA)
GCGC=0.16167/97 (NorthernSweden)
GCGC=0.21945/1099 (1000Genomes)
GCGC=0.27928/4681 (TOMMO)
HGVS:: NC_000015.10:g.55983305CG[2], NC_000015.10:g.55983305CG[3], NC_000015.10:g.55983305CG[5], NC_000015.10:g.55983305CG[6], NC_000015.10:g.55983305CG[7], NC_000015.10:g.55983305CG[8], NC_000015.10:g.55983304_55983312GC[6]GTGC[2]GC[5]G[1], NC_000015.9:g.56275503CG[2], NC_000015.9:g.56275503CG[3], NC_000015.9:g.56275503CG[5], NC_000015.9:g.56275503CG[6], NC_000015.9:g.56275503CG[7], NC_000015.9:g.56275503CG[8], NC_000015.9:g.56275502_56275510GC[6]GTGC[2]GC[5]G[1], NG_051072.1:g.15436GC[2], NG_051072.1:g.15436GC[3], NG_051072.1:g.15436GC[5], NG_051072.1:g.15436GC[6], NG_051072.1:g.15436GC[7], NG_051072.1:g.15436GC[8], NG_051072.1:g.15435_15443CG[6]CACG[2]CG[5]C[1]

Select item 14914836942.

rs1491483694 has merged into rs61198421 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:55978935 (GRCh38)
15:56271133 (GRCh37)
Canonical SPDI:: NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:55978922:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2346/1175 (1000Genomes)
A=0.5/19 (GENOME_DK)
HGVS:: NC_000015.10:g.55978935_55978938del, NC_000015.10:g.55978936_55978938del, NC_000015.10:g.55978937_55978938del, NC_000015.10:g.55978938del, NC_000015.10:g.55978938dup, NC_000015.10:g.55978937_55978938dup, NC_000015.10:g.55978936_55978938dup, NC_000015.10:g.55978935_55978938dup, NC_000015.10:g.55978930_55978938dup, NC_000015.9:g.56271133_56271136del, NC_000015.9:g.56271134_56271136del, NC_000015.9:g.56271135_56271136del, NC_000015.9:g.56271136del, NC_000015.9:g.56271136dup, NC_000015.9:g.56271135_56271136dup, NC_000015.9:g.56271134_56271136dup, NC_000015.9:g.56271133_56271136dup, NC_000015.9:g.56271128_56271136dup, NG_051072.1:g.19821_19824del, NG_051072.1:g.19822_19824del, NG_051072.1:g.19823_19824del, NG_051072.1:g.19824del, NG_051072.1:g.19824dup, NG_051072.1:g.19823_19824dup, NG_051072.1:g.19822_19824dup, NG_051072.1:g.19821_19824dup, NG_051072.1:g.19816_19824dup

Select item 14914620743.

rs1491462074 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:55880456 (GRCh38)
15:56172654 (GRCh37)
Canonical SPDI:: NC_000015.10:55880452:ATATA:ATA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0022/8 (TWINSUK)
-=0.0023/9 (ALSPAC)
HGVS:: NC_000015.10:g.55880454TA[1], NC_000015.9:g.56172652TA[1], NG_051072.1:g.118291AT[1]

Select item 14914220424.

rs1491422042 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:55988486 (GRCh38)
15:56280685 (GRCh37)
Canonical SPDI:: NC_000015.10:55988486::A,NC_000015.10:55988486::AA,NC_000015.10:55988486::AAA,NC_000015.10:55988486::AAAAAAAA,NC_000015.10:55988486::AAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55988486::AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.00008/2 (TOMMO)
HGVS:: NC_000015.10:g.55988486_55988487insA, NC_000015.10:g.55988486_55988487insAA, NC_000015.10:g.55988486_55988487insAAA, NC_000015.10:g.55988486_55988487insAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.55988486_55988487insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insA, NC_000015.9:g.56280684_56280685insAA, NC_000015.9:g.56280684_56280685insAAA, NC_000015.9:g.56280684_56280685insAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.56280684_56280685insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_051072.1:g.10260_10261insT, NG_051072.1:g.10260_10261insTT, NG_051072.1:g.10260_10261insTTT, NG_051072.1:g.10260_10261insTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTTTTTTTTTTTTTT, NG_051072.1:g.10260_10261insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914145905.

rs1491414590 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTCA [Show Flanks]
Chromosome:: 15:55944541 (GRCh38)
15:56236740 (GRCh37)
Canonical SPDI:: NC_000015.10:55944541::CTCA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCA=0./0 (ALFA)
CTCA=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55944541_55944542insCTCA, NC_000015.9:g.56236739_56236740insCTCA, NG_051072.1:g.54205_54206insTGAG

Select item 14914089966.

rs1491408996 [Homo sapiens]

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

Select item 14914088687.

rs1491408868 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:55847676 (GRCh38)
15:56139874 (GRCh37)
Canonical SPDI:: NC_000015.10:55847675:CT:
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000045/5 (GnomAD)
HGVS:: NC_000015.10:g.55847676_55847677del, NC_000015.9:g.56139874_56139875del, NG_051072.1:g.151070_151071del

Select item 14913872728.

rs1491387272 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:55978922 (GRCh38)
15:56271120 (GRCh37)
Canonical SPDI:: NC_000015.10:55978921:CA:
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.55978922_55978923del, NC_000015.9:g.56271120_56271121del, NG_051072.1:g.19824_19825del

Select item 14913673319.

rs1491367331 has merged into rs200591357 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 15:55832194 (GRCh38)
15:56124392 (GRCh37)
Canonical SPDI:: NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:55832181:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4627/2317 (1000Genomes)
HGVS:: NC_000015.10:g.55832194_55832199del, NC_000015.10:g.55832196_55832199del, NC_000015.10:g.55832197_55832199del, NC_000015.10:g.55832198_55832199del, NC_000015.10:g.55832199del, NC_000015.10:g.55832199dup, NC_000015.10:g.55832198_55832199dup, NC_000015.10:g.55832197_55832199dup, NC_000015.10:g.55832196_55832199dup, NC_000015.9:g.56124392_56124397del, NC_000015.9:g.56124394_56124397del, NC_000015.9:g.56124395_56124397del, NC_000015.9:g.56124396_56124397del, NC_000015.9:g.56124397del, NC_000015.9:g.56124397dup, NC_000015.9:g.56124396_56124397dup, NC_000015.9:g.56124395_56124397dup, NC_000015.9:g.56124394_56124397dup, NG_051072.1:g.166560_166565del, NG_051072.1:g.166562_166565del, NG_051072.1:g.166563_166565del, NG_051072.1:g.166564_166565del, NG_051072.1:g.166565del, NG_051072.1:g.166565dup, NG_051072.1:g.166564_166565dup, NG_051072.1:g.166563_166565dup, NG_051072.1:g.166562_166565dup

Select item 149135084910.

rs1491350849 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 15:55883726 (GRCh38)
15:56175925 (GRCh37)
Canonical SPDI:: NC_000015.10:55883726:AGA:AGAGA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.55883728_55883729dup, NC_000015.9:g.56175926_56175927dup, NG_051072.1:g.115019_115020dup

Select item 149133437111.

rs1491334371 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 15:55876520 (GRCh38)
15:56168719 (GRCh37)
Canonical SPDI:: NC_000015.10:55876520:TATAT:TATATAT
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATAT=0./0 (ALFA)
TA=0.000007/1 (GnomAD)
TA=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.55876522AT[3], NC_000015.9:g.56168720AT[3], NG_051072.1:g.122223TA[3]

Select item 149132828712.

rs1491328287 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 15:55988486 (GRCh38)
15:56280684 (GRCh37)
Canonical SPDI:: NC_000015.10:55988485:TT:
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00007/6 (GnomAD)
HGVS:: NC_000015.10:g.55988486_55988487del, NC_000015.9:g.56280684_56280685del, NG_051072.1:g.10260_10261del

Select item 149128908913.

rs1491289089 has merged into rs149994169 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 15:55979080 (GRCh38)
15:56271278 (GRCh37)
Canonical SPDI:: NC_000015.10:55979068:ATATATATATATA:ATATATATATA,NC_000015.10:55979068:ATATATATATATA:ATATATATATATATA,NC_000015.10:55979068:ATATATATATATA:ATATATATATATATATA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
AT=0.13158/5 (GENOME_DK)
AT=0.13616/610 (Estonian)
AT=0.15531/155 (GoNL)
AT=0.165/99 (NorthernSweden)
AT=0.17302/866 (1000Genomes)
HGVS:: NC_000015.10:g.55979070TA[5], NC_000015.10:g.55979070TA[7], NC_000015.10:g.55979070TA[8], NC_000015.9:g.56271268TA[5], NC_000015.9:g.56271268TA[7], NC_000015.9:g.56271268TA[8], NG_051072.1:g.19667AT[5], NG_051072.1:g.19667AT[7], NG_051072.1:g.19667AT[8]

Select item 149128151514.

rs1491281515 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:55988487 (GRCh38)
15:56280685 (GRCh37)
Canonical SPDI:: NC_000015.10:55988486:TA:
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
-=0.00041/12 (GnomAD)
HGVS:: NC_000015.10:g.55988487_55988488del, NC_000015.9:g.56280685_56280686del, NG_051072.1:g.10259_10260del

Select item 149125640815.

rs1491256408 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 15:55944542 (GRCh38)
15:56236740 (GRCh37)
Canonical SPDI:: NC_000015.10:55944540:CTC:C
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.55944542_55944543del, NC_000015.9:g.56236740_56236741del, NG_051072.1:g.54205_54206del

Select item 149124610616.

rs1491246106 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 15:55976627 (GRCh38)
15:56268826 (GRCh37)
Canonical SPDI:: NC_000015.10:55976627::AT
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AT=0./0 (ALFA)
AT=0.000009/1 (GnomAD)
HGVS:: NC_000015.10:g.55976627_55976628insAT, NC_000015.9:g.56268825_56268826insAT, NG_051072.1:g.22119_22120insAT

Select item 149121859617.

rs1491218596 has merged into rs66970830 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 15:55837443 (GRCh38)
15:56129641 (GRCh37)
Canonical SPDI:: NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:55837432:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.0054/21 (ALSPAC)
A=0.0062/23 (TWINSUK)
A=0.0713/357 (1000Genomes)
A=0.275/11 (GENOME_DK)
HGVS:: NC_000015.10:g.55837443_55837448del, NC_000015.10:g.55837444_55837448del, NC_000015.10:g.55837445_55837448del, NC_000015.10:g.55837446_55837448del, NC_000015.10:g.55837447_55837448del, NC_000015.10:g.55837448del, NC_000015.10:g.55837448dup, NC_000015.10:g.55837447_55837448dup, NC_000015.9:g.56129641_56129646del, NC_000015.9:g.56129642_56129646del, NC_000015.9:g.56129643_56129646del, NC_000015.9:g.56129644_56129646del, NC_000015.9:g.56129645_56129646del, NC_000015.9:g.56129646del, NC_000015.9:g.56129646dup, NC_000015.9:g.56129645_56129646dup, NG_051072.1:g.161309_161314del, NG_051072.1:g.161310_161314del, NG_051072.1:g.161311_161314del, NG_051072.1:g.161312_161314del, NG_051072.1:g.161313_161314del, NG_051072.1:g.161314del, NG_051072.1:g.161314dup, NG_051072.1:g.161313_161314dup

Select item 149113920918.

rs1491139209 has merged into rs149696600 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:55847686 (GRCh38)
15:56139884 (GRCh37)
Canonical SPDI:: NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:55847676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TT=0.2786/1395 (1000Genomes)
HGVS:: NC_000015.10:g.55847686_55847694del, NC_000015.10:g.55847687_55847694del, NC_000015.10:g.55847688_55847694del, NC_000015.10:g.55847689_55847694del, NC_000015.10:g.55847690_55847694del, NC_000015.10:g.55847691_55847694del, NC_000015.10:g.55847692_55847694del, NC_000015.10:g.55847693_55847694del, NC_000015.10:g.55847694del, NC_000015.10:g.55847694dup, NC_000015.10:g.55847693_55847694dup, NC_000015.10:g.55847692_55847694dup, NC_000015.10:g.55847688_55847694dup, NC_000015.10:g.55847682_55847694dup, NC_000015.9:g.56139884_56139892del, NC_000015.9:g.56139885_56139892del, NC_000015.9:g.56139886_56139892del, NC_000015.9:g.56139887_56139892del, NC_000015.9:g.56139888_56139892del, NC_000015.9:g.56139889_56139892del, NC_000015.9:g.56139890_56139892del, NC_000015.9:g.56139891_56139892del, NC_000015.9:g.56139892del, NC_000015.9:g.56139892dup, NC_000015.9:g.56139891_56139892dup, NC_000015.9:g.56139890_56139892dup, NC_000015.9:g.56139886_56139892dup, NC_000015.9:g.56139880_56139892dup, NG_051072.1:g.151062_151070del, NG_051072.1:g.151063_151070del, NG_051072.1:g.151064_151070del, NG_051072.1:g.151065_151070del, NG_051072.1:g.151066_151070del, NG_051072.1:g.151067_151070del, NG_051072.1:g.151068_151070del, NG_051072.1:g.151069_151070del, NG_051072.1:g.151070del, NG_051072.1:g.151070dup, NG_051072.1:g.151069_151070dup, NG_051072.1:g.151068_151070dup, NG_051072.1:g.151064_151070dup, NG_051072.1:g.151058_151070dup

Select item 149112120919.

rs1491121209 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:55874988 (GRCh38)
15:56167187 (GRCh37)
Canonical SPDI:: NC_000015.10:55874988::C
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000061/1 (ALFA)
C=0.000036/5 (GnomAD)
HGVS:: NC_000015.10:g.55874988_55874989insC, NC_000015.9:g.56167186_56167187insC, NG_051072.1:g.123758_123759insG

Select item 149111369320.

rs1491113693 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TAA [Show Flanks]
Chromosome:: 15:55988487 (GRCh38)
15:56280686 (GRCh37)
Canonical SPDI:: NC_000015.10:55988487::TA,NC_000015.10:55988487::TAA
Gene:: NEDD4 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAA=0./0 (ALFA)
TA=0.00002/2 (GnomAD)
HGVS:: NC_000015.10:g.55988487_55988488insTA, NC_000015.10:g.55988487_55988488insTAA, NC_000015.9:g.56280685_56280686insTA, NC_000015.9:g.56280685_56280686insTAA, NG_051072.1:g.10259_10260insTA, NG_051072.1:g.10259_10260insTTA

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