SNP Links for Gene (Select 4690) - SNP

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Select item 14915379201.

rs1491537920 [Homo sapiens]

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

Select item 14914968362.

rs1491496836 has merged into rs59203615 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:136902197 (GRCh38)
3:136621039 (GRCh37)
Canonical SPDI:: NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136902184:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.136902197_136902202del, NC_000003.12:g.136902199_136902202del, NC_000003.12:g.136902201_136902202del, NC_000003.12:g.136902202del, NC_000003.12:g.136902202dup, NC_000003.12:g.136902201_136902202dup, NC_000003.12:g.136902200_136902202dup, NC_000003.12:g.136902199_136902202dup, NC_000003.12:g.136902198_136902202dup, NC_000003.12:g.136902197_136902202dup, NC_000003.12:g.136902195_136902202dup, NC_000003.12:g.136902192_136902202dup, NC_000003.12:g.136902190_136902202dup, NC_000003.12:g.136902188_136902202dup, NC_000003.12:g.136902187_136902202dup, NC_000003.12:g.136902186_136902202dup, NC_000003.12:g.136902185_136902202dup, NC_000003.12:g.136902202_136902203insTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.136902202_136902203insTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.136621039_136621044del, NC_000003.11:g.136621041_136621044del, NC_000003.11:g.136621043_136621044del, NC_000003.11:g.136621044del, NC_000003.11:g.136621044dup, NC_000003.11:g.136621043_136621044dup, NC_000003.11:g.136621042_136621044dup, NC_000003.11:g.136621041_136621044dup, NC_000003.11:g.136621040_136621044dup, NC_000003.11:g.136621039_136621044dup, NC_000003.11:g.136621037_136621044dup, NC_000003.11:g.136621034_136621044dup, NC_000003.11:g.136621032_136621044dup, NC_000003.11:g.136621030_136621044dup, NC_000003.11:g.136621029_136621044dup, NC_000003.11:g.136621028_136621044dup, NC_000003.11:g.136621027_136621044dup, NC_000003.11:g.136621044_136621045insTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.136621044_136621045insTTTTTTTTTTTTTTTTTTTTT

Select item 14914614813.

rs1491461481 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 3:136867267 (GRCh38)
3:136586109 (GRCh37)
Canonical SPDI:: NC_000003.12:136867265:TTT:T,NC_000003.12:136867265:TTT:TTTTT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000674/11 (ALFA)
-=0.000124/2 (TOMMO)
-=0.000546/1 (Korea1K)
-=0.000674/75 (GnomAD)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000003.12:g.136867267_136867268del, NC_000003.12:g.136867267_136867268dup, NC_000003.11:g.136586109_136586110del, NC_000003.11:g.136586109_136586110dup

Select item 14914583684.

rs1491458368 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:136893147 (GRCh38)
3:136611989 (GRCh37)
Canonical SPDI:: NC_000003.12:136893146:AG:
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00016/1 (1000Genomes)
-=0.00016/12 (GnomAD)
HGVS:: NC_000003.12:g.136893147_136893148del, NC_000003.11:g.136611989_136611990del

Select item 14914087995.

rs1491408799 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:136928789 (GRCh38)
3:136647631 (GRCh37)
Canonical SPDI:: NC_000003.12:136928787:GAG:G
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.136928789_136928790del, NC_000003.11:g.136647631_136647632del

Select item 14913805136.

rs1491380513 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 3:136902182 (GRCh38)
3:136621024 (GRCh37)
Canonical SPDI:: NC_000003.12:136902180:TTT:T
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000003.12:g.136902182_136902183del, NC_000003.11:g.136621024_136621025del

Select item 14913681357.

rs1491368135 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 3:136949418 (GRCh38)
3:136668260 (GRCh37)
Canonical SPDI:: NC_000003.12:136949417:TA:
Gene:: NCK1 (Varview), IL20RB-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.136949418_136949419del, NC_000003.11:g.136668260_136668261del, NM_006153.6:c.*965_*966del, NM_006153.5:c.*965_*966del, NM_001190796.3:c.*965_*966del, NM_001190796.2:c.*965_*966del, XM_024453538.2:c.*965_*966del, NM_001291999.2:c.*965_*966del, NM_001291999.1:c.*965_*966del, XM_047448189.1:c.*965_*966del, XM_047448190.1:c.*965_*966del, XM_047448191.1:c.*965_*966del

Select item 14913583128.

rs1491358312 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTTAA [Show Flanks]
Chromosome:: 3:136870050 (GRCh38)
3:136588893 (GRCh37)
Canonical SPDI:: NC_000003.12:136870050::TA,NC_000003.12:136870050::TTTTAA
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
TA=0.00001/1 (GnomAD)
TTTTAA=0.00028/8 (TOMMO)
HGVS:: NC_000003.12:g.136870050_136870051insTA, NC_000003.12:g.136870050_136870051insTTTTAA, NC_000003.11:g.136588892_136588893insTA, NC_000003.11:g.136588892_136588893insTTTTAA

Select item 14913455589.

rs1491345558 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:136930980 (GRCh38)
3:136649822 (GRCh37)
Canonical SPDI:: NC_000003.12:136930979:CT:
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000013/1 (GnomAD)
HGVS:: NC_000003.12:g.136930980_136930981del, NC_000003.11:g.136649822_136649823del

Select item 149131542810.

rs1491315428 [Homo sapiens]

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

Select item 149130964111.

rs1491309641 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:136882162 (GRCh38)
3:136601004 (GRCh37)
Canonical SPDI:: NC_000003.12:136882159:ATAT:AT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.136882160AT[1], NC_000003.11:g.136601002AT[1]

Select item 149129743812.

rs1491297438 has merged into rs34682748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 3:136930989 (GRCh38)
3:136649831 (GRCh37)
Canonical SPDI:: NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTT,NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:136930980:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.261667/157 (NorthernSweden)
T=0.295327/1479 (1000Genomes)
T=0.297872/1148 (ALSPAC)
T=0.304477/1129 (TWINSUK)
T=0.318112/84201 (TOPMED)
T=0.425/17 (GENOME_DK)
HGVS:: NC_000003.12:g.136930989_136930992del, NC_000003.12:g.136930990_136930992del, NC_000003.12:g.136930991_136930992del, NC_000003.12:g.136930992del, NC_000003.12:g.136930992dup, NC_000003.12:g.136930991_136930992dup, NC_000003.11:g.136649831_136649834del, NC_000003.11:g.136649832_136649834del, NC_000003.11:g.136649833_136649834del, NC_000003.11:g.136649834del, NC_000003.11:g.136649834dup, NC_000003.11:g.136649833_136649834dup

Select item 149128658213.

rs1491286582 has merged into rs34349896 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT,CTCTCTCTCT [Show Flanks]
Chromosome:: 3:136867263 (GRCh38)
3:136586105 (GRCh37)
Canonical SPDI:: NC_000003.12:136867253:TCTCTCTCTCTCT:TCTCTCTCT,NC_000003.12:136867253:TCTCTCTCTCTCT:TCTCTCTCTCT,NC_000003.12:136867253:TCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000003.12:136867253:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT,NC_000003.12:136867253:TCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT
Gene:: NCK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCT=0./0 (ALFA)
-=0.2308/24 (Vietnamese)
-=0.325/13 (GENOME_DK)
-=0.49/2454 (1000Genomes)
HGVS:: NC_000003.12:g.136867255CT[4], NC_000003.12:g.136867255CT[5], NC_000003.12:g.136867255CT[7], NC_000003.12:g.136867255CT[8], NC_000003.12:g.136867255CT[9], NC_000003.11:g.136586097CT[4], NC_000003.11:g.136586097CT[5], NC_000003.11:g.136586097CT[7], NC_000003.11:g.136586097CT[8], NC_000003.11:g.136586097CT[9]

Select item 149127300014.

rs1491273000 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:136893148 (GRCh38)
3:136611991 (GRCh37)
Canonical SPDI:: NC_000003.12:136893148:T:TT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
HGVS:: NC_000003.12:g.136893149dup, NC_000003.11:g.136611991dup

Select item 149124322215.

rs1491243222 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:136902181 (GRCh38)
3:136621024 (GRCh37)
Canonical SPDI:: NC_000003.12:136902181::G
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.136902181_136902182insG, NC_000003.11:g.136621023_136621024insG

Select item 149116429816.

rs1491164298 has merged into rs1171829431 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 3:136864503 (GRCh38)
3:136583345 (GRCh37)
Canonical SPDI:: NC_000003.12:136864495:AAAAAAAAAA:AAAAAAA,NC_000003.12:136864495:AAAAAAAAAA:AAAAAAAA,NC_000003.12:136864495:AAAAAAAAAA:AAAAAAAAA,NC_000003.12:136864495:AAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:136864495:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: NCK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.136864503_136864505del, NC_000003.12:g.136864504_136864505del, NC_000003.12:g.136864505del, NC_000003.12:g.136864505dup, NC_000003.12:g.136864504_136864505dup, NC_000003.11:g.136583345_136583347del, NC_000003.11:g.136583346_136583347del, NC_000003.11:g.136583347del, NC_000003.11:g.136583347dup, NC_000003.11:g.136583346_136583347dup

Select item 149114601617.

rs1491146016 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 3:136889044 (GRCh38)
3:136607886 (GRCh37)
Canonical SPDI:: NC_000003.12:136889043:AT:
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.136889044_136889045del, NC_000003.11:g.136607886_136607887del

Select item 149114286918.

rs1491142869 has merged into rs58385753 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:136889054 (GRCh38)
3:136607896 (GRCh37)
Canonical SPDI:: NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:136889044:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NCK1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTT=0./0 (GENOME_DK)
HGVS:: NC_000003.12:g.136889054_136889074del, NC_000003.12:g.136889055_136889074del, NC_000003.12:g.136889057_136889074del, NC_000003.12:g.136889058_136889074del, NC_000003.12:g.136889059_136889074del, NC_000003.12:g.136889060_136889074del, NC_000003.12:g.136889061_136889074del, NC_000003.12:g.136889062_136889074del, NC_000003.12:g.136889063_136889074del, NC_000003.12:g.136889064_136889074del, NC_000003.12:g.136889065_136889074del, NC_000003.12:g.136889066_136889074del, NC_000003.12:g.136889067_136889074del, NC_000003.12:g.136889068_136889074del, NC_000003.12:g.136889069_136889074del, NC_000003.12:g.136889070_136889074del, NC_000003.12:g.136889071_136889074del, NC_000003.12:g.136889072_136889074del, NC_000003.12:g.136889073_136889074del, NC_000003.12:g.136889074del, NC_000003.12:g.136889074dup, NC_000003.12:g.136889073_136889074dup, NC_000003.12:g.136889072_136889074dup, NC_000003.12:g.136889071_136889074dup, NC_000003.12:g.136889070_136889074dup, NC_000003.12:g.136889069_136889074dup, NC_000003.12:g.136889068_136889074dup, NC_000003.12:g.136889067_136889074dup, NC_000003.12:g.136889066_136889074dup, NC_000003.12:g.136889065_136889074dup, NC_000003.12:g.136889064_136889074dup, NC_000003.12:g.136889063_136889074dup, NC_000003.12:g.136889062_136889074dup, NC_000003.12:g.136889060_136889074dup, NC_000003.12:g.136889056_136889074dup, NC_000003.12:g.136889055_136889074dup, NC_000003.12:g.136889050_136889074dup, NC_000003.12:g.136889049_136889074dup, NC_000003.11:g.136607896_136607916del, NC_000003.11:g.136607897_136607916del, NC_000003.11:g.136607899_136607916del, NC_000003.11:g.136607900_136607916del, NC_000003.11:g.136607901_136607916del, NC_000003.11:g.136607902_136607916del, NC_000003.11:g.136607903_136607916del, NC_000003.11:g.136607904_136607916del, NC_000003.11:g.136607905_136607916del, NC_000003.11:g.136607906_136607916del, NC_000003.11:g.136607907_136607916del, NC_000003.11:g.136607908_136607916del, NC_000003.11:g.136607909_136607916del, NC_000003.11:g.136607910_136607916del, NC_000003.11:g.136607911_136607916del, NC_000003.11:g.136607912_136607916del, NC_000003.11:g.136607913_136607916del, NC_000003.11:g.136607914_136607916del, NC_000003.11:g.136607915_136607916del, NC_000003.11:g.136607916del, NC_000003.11:g.136607916dup, NC_000003.11:g.136607915_136607916dup, NC_000003.11:g.136607914_136607916dup, NC_000003.11:g.136607913_136607916dup, NC_000003.11:g.136607912_136607916dup, NC_000003.11:g.136607911_136607916dup, NC_000003.11:g.136607910_136607916dup, NC_000003.11:g.136607909_136607916dup, NC_000003.11:g.136607908_136607916dup, NC_000003.11:g.136607907_136607916dup, NC_000003.11:g.136607906_136607916dup, NC_000003.11:g.136607905_136607916dup, NC_000003.11:g.136607904_136607916dup, NC_000003.11:g.136607902_136607916dup, NC_000003.11:g.136607898_136607916dup, NC_000003.11:g.136607897_136607916dup, NC_000003.11:g.136607892_136607916dup, NC_000003.11:g.136607891_136607916dup

Select item 149113034919.

rs1491130349 has merged into rs577932121 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 3:136867054 (GRCh38)
3:136585896 (GRCh37)
Canonical SPDI:: NC_000003.12:136867052:TTT:T,NC_000003.12:136867052:TTT:TT,NC_000003.12:136867052:TTT:TTTT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.04783/11 (GnomAD)
HGVS:: NC_000003.12:g.136867054_136867055del, NC_000003.12:g.136867055del, NC_000003.12:g.136867055dup, NC_000003.11:g.136585896_136585897del, NC_000003.11:g.136585897del, NC_000003.11:g.136585897dup

Select item 149110439820.

rs1491104398 has merged into rs142883729 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 3:136893162 (GRCh38)
3:136612004 (GRCh37)
Canonical SPDI:: NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000003.12:136893147:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NCK1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.136893148GT[7], NC_000003.12:g.136893148GT[9], NC_000003.12:g.136893148GT[10], NC_000003.12:g.136893148GT[12], NC_000003.12:g.136893148GT[13], NC_000003.12:g.136893148GT[14], NC_000003.12:g.136893148GT[15], NC_000003.12:g.136893148GT[17], NC_000003.12:g.136893148GT[18], NC_000003.12:g.136893148GT[19], NC_000003.12:g.136893148GT[20], NC_000003.12:g.136893148GT[21], NC_000003.12:g.136893148GT[22], NC_000003.12:g.136893148GT[23], NC_000003.12:g.136893148GT[24], NC_000003.12:g.136893148GT[25], NC_000003.12:g.136893148GT[26], NC_000003.11:g.136611990GT[7], NC_000003.11:g.136611990GT[9], NC_000003.11:g.136611990GT[10], NC_000003.11:g.136611990GT[12], NC_000003.11:g.136611990GT[13], NC_000003.11:g.136611990GT[14], NC_000003.11:g.136611990GT[15], NC_000003.11:g.136611990GT[17], NC_000003.11:g.136611990GT[18], NC_000003.11:g.136611990GT[19], NC_000003.11:g.136611990GT[20], NC_000003.11:g.136611990GT[21], NC_000003.11:g.136611990GT[22], NC_000003.11:g.136611990GT[23], NC_000003.11:g.136611990GT[24], NC_000003.11:g.136611990GT[25], NC_000003.11:g.136611990GT[26]

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