SNP Links for Gene (Select 1894) - SNP

Links from Gene

Items: 1 to 20 of 17698

<< First< Prev

Page of 885

Next >Last >>

Select item 14915519931.

rs1491551993 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:172800028 (GRCh38)
3:172517818 (GRCh37)
Canonical SPDI:: NC_000003.12:172800024:AGAGA:AGA
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.172800026GA[1], NC_000003.11:g.172517816GA[1]

Select item 14915319332.

rs1491531933 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 3:172762384 (GRCh38)
3:172480174 (GRCh37)
Canonical SPDI:: NC_000003.12:172762383:AC:
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00015/9 (ExAC)
-=0.00045/40 (GnomAD_exomes)
HGVS:: NC_000003.12:g.172762384_172762385del, NC_000003.11:g.172480174_172480175del

Select item 14914856803.

rs1491485680 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:172823933 (GRCh38)
3:172541723 (GRCh37)
Canonical SPDI:: NC_000003.12:172823929:TCTCT:TCT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000039/4 (GnomAD)
HGVS:: NC_000003.12:g.172823931CT[1], NC_000003.11:g.172541721CT[1]

Select item 14914519134.

rs1491451913 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:172828353 (GRCh38)
3:172546143 (GRCh37)
Canonical SPDI:: NC_000003.12:172828352:GC:
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000796/13 (ALFA)
-=0.000031/4 (GnomAD)
-=0.000708/12 (TOMMO)
-=0.003275/6 (Korea1K)
HGVS:: NC_000003.12:g.172828353_172828354del, NC_000003.11:g.172546143_172546144del

Select item 14913909245.

rs1491390924 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:172789058 (GRCh38)
3:172506849 (GRCh37)
Canonical SPDI:: NC_000003.12:172789058::G
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00004/1 (GnomAD)
HGVS:: NC_000003.12:g.172789058_172789059insG, NC_000003.11:g.172506848_172506849insG

Select item 14913793196.

rs1491379319 [Homo sapiens]

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

Select item 14913717097.

rs1491371709 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:172823930 (GRCh38)
3:172541721 (GRCh37)
Canonical SPDI:: NC_000003.12:172823930:C:CC
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000003.12:g.172823931dup, NC_000003.11:g.172541721dup

Select item 14913335298.

rs1491333529 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 3:172806651 (GRCh38)
3:172524441 (GRCh37)
Canonical SPDI:: NC_000003.12:172806650:GT:
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000003.12:g.172806651_172806652del, NC_000003.11:g.172524441_172524442del

Select item 14913010149.

rs1491301014 has merged into rs71162310 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:172789066 (GRCh38)
3:172506856 (GRCh37)
Canonical SPDI:: NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:172789057:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
A=0.365815/1832 (1000Genomes)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000003.12:g.172789066_172789075del, NC_000003.12:g.172789069_172789075del, NC_000003.12:g.172789071_172789075del, NC_000003.12:g.172789072_172789075del, NC_000003.12:g.172789073_172789075del, NC_000003.12:g.172789074_172789075del, NC_000003.12:g.172789075del, NC_000003.12:g.172789075dup, NC_000003.12:g.172789074_172789075dup, NC_000003.12:g.172789073_172789075dup, NC_000003.12:g.172789072_172789075dup, NC_000003.12:g.172789070_172789075dup, NC_000003.12:g.172789067_172789075dup, NC_000003.11:g.172506856_172506865del, NC_000003.11:g.172506859_172506865del, NC_000003.11:g.172506861_172506865del, NC_000003.11:g.172506862_172506865del, NC_000003.11:g.172506863_172506865del, NC_000003.11:g.172506864_172506865del, NC_000003.11:g.172506865del, NC_000003.11:g.172506865dup, NC_000003.11:g.172506864_172506865dup, NC_000003.11:g.172506863_172506865dup, NC_000003.11:g.172506862_172506865dup, NC_000003.11:g.172506860_172506865dup, NC_000003.11:g.172506857_172506865dup

Select item 149122542310.

rs1491225423 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGTGTGT [Show Flanks]
Chromosome:: 3:172828353 (GRCh38)
3:172546144 (GRCh37)
Canonical SPDI:: NC_000003.12:172828353::TGTGTGTGT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: TGTGTGTGT=0.00004/2 (GnomAD)
HGVS:: NC_000003.12:g.172828353_172828354insTGTGTGTGT, NC_000003.11:g.172546143_172546144insTGTGTGTGT

Select item 149122380611.

rs1491223806 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:172800025 (GRCh38)
3:172517816 (GRCh37)
Canonical SPDI:: NC_000003.12:172800025:G:GG
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000026/7 (TOPMED)
G=0.000036/5 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000003.12:g.172800026dup, NC_000003.11:g.172517816dup

Select item 149120373612.

rs1491203736 has merged into rs71162314 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:172806664 (GRCh38)
3:172524454 (GRCh37)
Canonical SPDI:: NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:172806651:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TT=0.2003/1003 (1000Genomes)
HGVS:: NC_000003.12:g.172806664_172806670del, NC_000003.12:g.172806665_172806670del, NC_000003.12:g.172806667_172806670del, NC_000003.12:g.172806668_172806670del, NC_000003.12:g.172806669_172806670del, NC_000003.12:g.172806670del, NC_000003.12:g.172806670dup, NC_000003.12:g.172806669_172806670dup, NC_000003.12:g.172806668_172806670dup, NC_000003.12:g.172806667_172806670dup, NC_000003.12:g.172806664_172806670dup, NC_000003.11:g.172524454_172524460del, NC_000003.11:g.172524455_172524460del, NC_000003.11:g.172524457_172524460del, NC_000003.11:g.172524458_172524460del, NC_000003.11:g.172524459_172524460del, NC_000003.11:g.172524460del, NC_000003.11:g.172524460dup, NC_000003.11:g.172524459_172524460dup, NC_000003.11:g.172524458_172524460dup, NC_000003.11:g.172524457_172524460dup, NC_000003.11:g.172524454_172524460dup

Select item 149119346713.

rs1491193467 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>TTA [Show Flanks]
Chromosome:: 3:172762384 (GRCh38)
3:172480174 (GRCh37)
Canonical SPDI:: NC_000003.12:172762383:AC:TTA
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.172762384_172762385delinsTTA, NC_000003.11:g.172480174_172480175delinsTTA

Select item 149114008514.

rs1491140085 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:172795323 (GRCh38)
3:172513113 (GRCh37)
Canonical SPDI:: NC_000003.12:172795322:CA:
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000003.12:g.172795323_172795324del, NC_000003.11:g.172513113_172513114del

Select item 149110847715.

rs1491108477 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:172800439 (GRCh38)
3:172518229 (GRCh37)
Canonical SPDI:: NC_000003.12:172800438:TTTTTTT:TTTTTT,NC_000003.12:172800438:TTTTTTT:TTTTTTTT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0.000071/1 (ALFA)
-=0./0 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000003.12:g.172800445del, NC_000003.12:g.172800445dup, NC_000003.11:g.172518235del, NC_000003.11:g.172518235dup

Select item 149103348516.

rs1491033485 has merged into rs34510739 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 3:172792462 (GRCh38)
3:172510252 (GRCh37)
Canonical SPDI:: NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:172792451:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
TT=0.4754/2381 (1000Genomes)
HGVS:: NC_000003.12:g.172792462_172792465del, NC_000003.12:g.172792463_172792465del, NC_000003.12:g.172792464_172792465del, NC_000003.12:g.172792465del, NC_000003.12:g.172792465dup, NC_000003.12:g.172792464_172792465dup, NC_000003.12:g.172792463_172792465dup, NC_000003.12:g.172792462_172792465dup, NC_000003.12:g.172792459_172792465dup, NC_000003.11:g.172510252_172510255del, NC_000003.11:g.172510253_172510255del, NC_000003.11:g.172510254_172510255del, NC_000003.11:g.172510255del, NC_000003.11:g.172510255dup, NC_000003.11:g.172510254_172510255dup, NC_000003.11:g.172510253_172510255dup, NC_000003.11:g.172510252_172510255dup, NC_000003.11:g.172510249_172510255dup

Select item 149099932317.

rs1490999323 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTT>- [Show Flanks]
Chromosome:: 3:172802839 (GRCh38)
3:172520629 (GRCh37)
Canonical SPDI:: NC_000003.12:172802836:TTGTT:TT
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.172802839_172802841del, NC_000003.11:g.172520629_172520631del

Select item 149096675818.

rs1490966758 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:172788135 (GRCh38)
3:172505925 (GRCh37)
Canonical SPDI:: NC_000003.12:172788134:T:A
Gene:: ECT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.172788135T>A, NC_000003.11:g.172505925T>A

Select item 149095161819.

rs1490951618 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:172786943 (GRCh38)
3:172504733 (GRCh37)
Canonical SPDI:: NC_000003.12:172786942:A:G
Gene:: ECT2 (Varview)
Functional Consequence:: 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_000003.12:g.172786943A>G, NC_000003.11:g.172504733A>G

Select item 149090619920.

rs1490906199 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:172749215 (GRCh38)
3:172467005 (GRCh37)
Canonical SPDI:: NC_000003.12:172749214:T:G
Gene:: ECT2 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.172749215T>G, NC_000003.11:g.172467005T>G

<< First< Prev

Page of 885

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 17698

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity