SNP Links for Gene (Select 6338) - SNP

Links from Gene

Items: 1 to 20 of 24858

<< First< Prev

Page of 1243

Next >Last >>

Select item 14915715021.

rs1491571502 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAG [Show Flanks]
Chromosome:: 16:23343659 (GRCh38)
16:23354981 (GRCh37)
Canonical SPDI:: NC_000016.10:23343659:GAAG:GAAGAAG
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAGAAG=0./0 (ALFA)
HGVS:: NC_000016.10:g.23343661_23343663dup, NC_000016.9:g.23354982_23354984dup, NG_011908.1:g.46392_46394dup

Select item 14915418862.

rs1491541886 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:23343646 (GRCh38)
16:23354968 (GRCh37)
Canonical SPDI:: NC_000016.10:23343646:G:GG
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.23343647dup, NC_000016.9:g.23354968dup, NG_011908.1:g.46378dup

Select item 14915130713.

rs1491513071 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:23365560 (GRCh38)
16:23376882 (GRCh37)
Canonical SPDI:: NC_000016.10:23365560::G
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.23365560_23365561insG, NC_000016.9:g.23376881_23376882insG, NG_011908.1:g.68291_68292insG

Select item 14914915884.

rs1491491588 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AACAAA [Show Flanks]
Chromosome:: 16:23365595 (GRCh38)
16:23376916 (GRCh37)
Canonical SPDI:: NC_000016.10:23365593:AAA:A,NC_000016.10:23365593:AAA:AAACAAA
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00076/9 (ALFA)
-=0.00827/74 (TOMMO)
-=0.01109/641 (GnomAD)
-=0.01693/15 (Korea1K)
AAAC=0.02543/98 (ALSPAC)
CAAA=0.02562/95 (TWINSUK)
HGVS:: NC_000016.10:g.23365595_23365596del, NC_000016.10:g.23365596_23365597insCAAA, NC_000016.9:g.23376916_23376917del, NC_000016.9:g.23376917_23376918insCAAA, NG_011908.1:g.68326_68327del, NG_011908.1:g.68327_68328insCAAA, NG_080356.1:g.28_29del, NG_080356.1:g.29_30insCAAA

Select item 14914832475.

rs1491483247 [Homo sapiens]

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

Select item 14914711266.

rs1491471126 has merged into rs60930177 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:23301010 (GRCh38)
16:23312331 (GRCh37)
Canonical SPDI:: NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:23300993:GTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SCNN1B (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGT=0.251/1257 (1000Genomes)
HGVS:: NC_000016.10:g.23300994GT[8], NC_000016.10:g.23300994GT[9], NC_000016.10:g.23300994GT[10], NC_000016.10:g.23300994GT[11], NC_000016.10:g.23300994GT[12], NC_000016.10:g.23300994GT[13], NC_000016.10:g.23300994GT[15], NC_000016.10:g.23300994GT[16], NC_000016.10:g.23300994GT[17], NC_000016.10:g.23300994GT[18], NC_000016.10:g.23300994GT[19], NC_000016.10:g.23300994GT[20], NC_000016.10:g.23300994GT[21], NC_000016.10:g.23300994GT[22], NC_000016.10:g.23300994GT[23], NC_000016.10:g.23300994GT[24], NC_000016.10:g.23300994GT[25], NC_000016.10:g.23300994GT[28], NC_000016.10:g.23300994GT[30], NC_000016.9:g.23312315GT[8], NC_000016.9:g.23312315GT[9], NC_000016.9:g.23312315GT[10], NC_000016.9:g.23312315GT[11], NC_000016.9:g.23312315GT[12], NC_000016.9:g.23312315GT[13], NC_000016.9:g.23312315GT[15], NC_000016.9:g.23312315GT[16], NC_000016.9:g.23312315GT[17], NC_000016.9:g.23312315GT[18], NC_000016.9:g.23312315GT[19], NC_000016.9:g.23312315GT[20], NC_000016.9:g.23312315GT[21], NC_000016.9:g.23312315GT[22], NC_000016.9:g.23312315GT[23], NC_000016.9:g.23312315GT[24], NC_000016.9:g.23312315GT[25], NC_000016.9:g.23312315GT[28], NC_000016.9:g.23312315GT[30], NG_011908.1:g.3725GT[8], NG_011908.1:g.3725GT[9], NG_011908.1:g.3725GT[10], NG_011908.1:g.3725GT[11], NG_011908.1:g.3725GT[12], NG_011908.1:g.3725GT[13], NG_011908.1:g.3725GT[15], NG_011908.1:g.3725GT[16], NG_011908.1:g.3725GT[17], NG_011908.1:g.3725GT[18], NG_011908.1:g.3725GT[19], NG_011908.1:g.3725GT[20], NG_011908.1:g.3725GT[21], NG_011908.1:g.3725GT[22], NG_011908.1:g.3725GT[23], NG_011908.1:g.3725GT[24], NG_011908.1:g.3725GT[25], NG_011908.1:g.3725GT[28], NG_011908.1:g.3725GT[30]

Select item 14914700877.

rs1491470087 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 16:23343591 (GRCh38)
16:23354912 (GRCh37)
Canonical SPDI:: NC_000016.10:23343589:AGA:A
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.23343591_23343592del, NC_000016.9:g.23354912_23354913del, NG_011908.1:g.46322_46323del

Select item 14914563038.

rs1491456303 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:23360590 (GRCh38)
16:23371912 (GRCh37)
Canonical SPDI:: NC_000016.10:23360590::T
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.23360590_23360591insT, NC_000016.9:g.23371911_23371912insT, NG_011908.1:g.63321_63322insT

Select item 14914394569.

rs1491439456 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:23343609 (GRCh38)
16:23354930 (GRCh37)
Canonical SPDI:: NC_000016.10:23343607:AAA:A
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.23343609_23343610del, NC_000016.9:g.23354930_23354931del, NG_011908.1:g.46340_46341del

Select item 149141957110.

rs1491419571 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAA,GAAA,GAAAAAA,GAAAAAAA,GAAAAAAAA [Show Flanks]
Chromosome:: 16:23374268 (GRCh38)
16:23385590 (GRCh37)
Canonical SPDI:: NC_000016.10:23374268::GAA,NC_000016.10:23374268::GAAA,NC_000016.10:23374268::GAAAAAA,NC_000016.10:23374268::GAAAAAAA,NC_000016.10:23374268::GAAAAAAAA
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.23374268_23374269insGAA, NC_000016.10:g.23374268_23374269insGAAA, NC_000016.10:g.23374268_23374269insGAAAAAA, NC_000016.10:g.23374268_23374269insGAAAAAAA, NC_000016.10:g.23374268_23374269insGAAAAAAAA, NC_000016.9:g.23385589_23385590insGAA, NC_000016.9:g.23385589_23385590insGAAA, NC_000016.9:g.23385589_23385590insGAAAAAA, NC_000016.9:g.23385589_23385590insGAAAAAAA, NC_000016.9:g.23385589_23385590insGAAAAAAAA, NG_011908.1:g.76999_77000insGAA, NG_011908.1:g.76999_77000insGAAA, NG_011908.1:g.76999_77000insGAAAAAA, NG_011908.1:g.76999_77000insGAAAAAAA, NG_011908.1:g.76999_77000insGAAAAAAAA

Select item 149138566611.

rs1491385666 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:23365594 (GRCh38)
16:23376916 (GRCh37)
Canonical SPDI:: NC_000016.10:23365594::G
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00002/1 (GnomAD)
HGVS:: NC_000016.10:g.23365594_23365595insG, NC_000016.9:g.23376915_23376916insG, NG_011908.1:g.68325_68326insG, NG_080356.1:g.27_28insG

Select item 149136424612.

rs1491364246 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 16:23365605 (GRCh38)
16:23376926 (GRCh37)
Canonical SPDI:: NC_000016.10:23365603:AGA:A,NC_000016.10:23365603:AGA:AGAGA,NC_000016.10:23365603:AGA:AGAGAGA,NC_000016.10:23365603:AGA:AGAGAGAGA,NC_000016.10:23365603:AGA:AGAGAGAGAGA,NC_000016.10:23365603:AGA:AGAGAGAGAGAGA
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
AG=0.00185/1 (NorthernSweden)
AGAGAG=0.375/3 (KOREAN)
HGVS:: NC_000016.10:g.23365605_23365606del, NC_000016.10:g.23365605_23365606dup, NC_000016.10:g.23365605GA[3], NC_000016.10:g.23365605GA[4], NC_000016.10:g.23365605GA[5], NC_000016.10:g.23365605GA[6], NC_000016.9:g.23376926_23376927del, NC_000016.9:g.23376926_23376927dup, NC_000016.9:g.23376926GA[3], NC_000016.9:g.23376926GA[4], NC_000016.9:g.23376926GA[5], NC_000016.9:g.23376926GA[6], NG_011908.1:g.68336_68337del, NG_011908.1:g.68336_68337dup, NG_011908.1:g.68336GA[3], NG_011908.1:g.68336GA[4], NG_011908.1:g.68336GA[5], NG_011908.1:g.68336GA[6], NG_080356.1:g.38_39del, NG_080356.1:g.38_39dup, NG_080356.1:g.38GA[3], NG_080356.1:g.38GA[4], NG_080356.1:g.38GA[5], NG_080356.1:g.38GA[6]

Select item 149133065213.

rs1491330652 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:23371661 (GRCh38)
16:23382982 (GRCh37)
Canonical SPDI:: NC_000016.10:23371660:CT:
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.00003/4 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.23371661_23371662del, NC_000016.9:g.23382982_23382983del, NG_011908.1:g.74392_74393del

Select item 149132938614.

rs1491329386 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAG [Show Flanks]
Chromosome:: 16:23343608 (GRCh38)
16:23354930 (GRCh37)
Canonical SPDI:: NC_000016.10:23343608:AAG:AAGCAAG
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGCAAG=0./0 (ALFA)
HGVS:: NC_000016.10:g.23343611_23343612insCAAG, NC_000016.9:g.23354932_23354933insCAAG, NG_011908.1:g.46342_46343insCAAG

Select item 149132790915.

rs1491327909 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 16:23374268 (GRCh38)
16:23385589 (GRCh37)
Canonical SPDI:: NC_000016.10:23374267:GA:
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.23374268_23374269del, NC_000016.9:g.23385589_23385590del, NG_011908.1:g.76999_77000del

Select item 149132281916.

rs1491322819 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:23356625 (GRCh38)
16:23367946 (GRCh37)
Canonical SPDI:: NC_000016.10:23356624:TA:
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00017/2 (ALFA)
-=0.00106/42 (GnomAD)
HGVS:: NC_000016.10:g.23356625_23356626del, NC_000016.9:g.23367946_23367947del, NG_011908.1:g.59356_59357del

Select item 149131825517.

rs1491318255 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:23336390 (GRCh38)
16:23347711 (GRCh37)
Canonical SPDI:: NC_000016.10:23336389:TG:
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.23336390_23336391del, NC_000016.9:g.23347711_23347712del, NG_011908.1:g.39121_39122del

Select item 149131230418.

rs1491312304 has merged into rs746891770 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA [Show Flanks]
Chromosome:: 16:23297018 (GRCh38)
16:23308339 (GRCh37)
Canonical SPDI:: NC_000016.10:23297006:AGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000016.10:23297006:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000016.10:23297006:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000016.10:23297006:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000016.10:23297006:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGAGAGAGA=0./0 (ALFA)
AGAG=0.000008/2 (TOPMED)
-=0.262794/4402 (TOMMO)
HGVS:: NC_000016.10:g.23297008GA[5], NC_000016.10:g.23297008GA[6], NC_000016.10:g.23297008GA[7], NC_000016.10:g.23297008GA[9], NC_000016.10:g.23297008GA[10], NC_000016.9:g.23308329GA[5], NC_000016.9:g.23308329GA[6], NC_000016.9:g.23308329GA[7], NC_000016.9:g.23308329GA[9], NC_000016.9:g.23308329GA[10]

Select item 149131049119.

rs1491310491 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:23379339 (GRCh38)
16:23390661 (GRCh37)
Canonical SPDI:: NC_000016.10:23379339:T:TT
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000016.10:g.23379340dup, NC_000016.9:g.23390661dup, NG_011908.1:g.82071dup

Select item 149129979320.

rs1491299793 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAAAGAAAGAAAGAAAGAA [Show Flanks]
Chromosome:: 16:23343590 (GRCh38)
16:23354912 (GRCh37)
Canonical SPDI:: NC_000016.10:23343590:GAAAGAAAGAAAGAAAGAA:GAAAGAAAGAAAGAAAGAAGGAAAGAAAGAAAGAAAGAA
Gene:: SCNN1B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GAAAGAAAGAAAGAAAGAAG=0.00004/2 (GnomAD)
HGVS:: NC_000016.10:g.23343591_23343609GAAA[4]GAAGGAAAGAAAGAAAGAAAGAA[1], NC_000016.9:g.23354912_23354930GAAA[4]GAAGGAAAGAAAGAAAGAAAGAA[1], NG_011908.1:g.46322_46340GAAA[4]GAAGGAAAGAAAGAAAGAAAGAA[1]

<< First< Prev

Page of 1243

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 24858

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity