SNP Links for Gene (Select 27289) - SNP

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Select item 14915667851.

rs1491566785 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:48864438 (GRCh38)
12:49258221 (GRCh37)
Canonical SPDI:: NC_000012.12:48864437:CA:
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000156/1 (1000Genomes)
-=0.000158/22 (GnomAD)
HGVS:: NC_000012.12:g.48864438_48864439del, NC_000012.11:g.49258221_49258222del

Select item 14915645432.

rs1491564543 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 12:48866255 (GRCh38)
12:49260038 (GRCh37)
Canonical SPDI:: NC_000012.12:48866254:GG:
Gene:: RND1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0008/3 (ALSPAC)
-=0.0011/4 (TWINSUK)
HGVS:: NC_000012.12:g.48866255_48866256del, NC_000012.11:g.49260038_49260039del

Select item 14912225343.

rs1491222534 has merged into rs57360089 [Homo sapiens]

Variant type:: DELINS
Alleles:: CGCGCGCGCGCG>-,CG,CGCG,CGCGCG,CGCGCGCG,CGCGCGCGCG,CGCGCGCGCGCGCG,CGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCG,CGCGCGCGCGCGCGCGCGCGCGCGCGCG [Show Flanks]
Chromosome:: 12:48864418 (GRCh38)
12:49258201 (GRCh37)
Canonical SPDI:: NC_000012.12:48864416:GCGCGCGCGCGCG:G,NC_000012.12:48864416:GCGCGCGCGCGCG:GCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCG,NC_000012.12:48864416:GCGCGCGCGCGCG:GCGCGCGCGCGCGCGCGCGCGCGCGCGCG
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
-=0.00701/117 (TOMMO)
HGVS:: NC_000012.12:g.48864418_48864429del, NC_000012.12:g.48864418CG[1], NC_000012.12:g.48864418CG[2], NC_000012.12:g.48864418CG[3], NC_000012.12:g.48864418CG[4], NC_000012.12:g.48864418CG[5], NC_000012.12:g.48864418CG[7], NC_000012.12:g.48864418CG[8], NC_000012.12:g.48864418CG[9], NC_000012.12:g.48864418CG[10], NC_000012.12:g.48864418CG[11], NC_000012.12:g.48864418CG[12], NC_000012.12:g.48864418CG[14], NC_000012.11:g.49258201_49258212del, NC_000012.11:g.49258201CG[1], NC_000012.11:g.49258201CG[2], NC_000012.11:g.49258201CG[3], NC_000012.11:g.49258201CG[4], NC_000012.11:g.49258201CG[5], NC_000012.11:g.49258201CG[7], NC_000012.11:g.49258201CG[8], NC_000012.11:g.49258201CG[9], NC_000012.11:g.49258201CG[10], NC_000012.11:g.49258201CG[11], NC_000012.11:g.49258201CG[12], NC_000012.11:g.49258201CG[14]

Select item 14911577174.

rs1491157717 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACGCGC [Show Flanks]
Chromosome:: 12:48864417 (GRCh38)
12:49258201 (GRCh37)
Canonical SPDI:: NC_000012.12:48864417:CGCGC:CGCGCACGCGC
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CGCGCACGCGC=0./0 (ALFA)
CGCGCA=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48864418_48864422CG[2]CACGCGC[1], NC_000012.11:g.49258201_49258205CG[2]CACGCGC[1]

Select item 14911400505.

rs1491140050 [Homo sapiens]

Variant type:: INS
Alleles:: ->GT [Show Flanks]
Chromosome:: 12:48864438 (GRCh38)
12:49258222 (GRCh37)
Canonical SPDI:: NC_000012.12:48864438::GT
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GT=0.000034/4 (GnomAD)
HGVS:: NC_000012.12:g.48864438_48864439insGT, NC_000012.11:g.49258221_49258222insGT

Select item 14910461566.

rs1491046156 has merged into rs56224245 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 12:48866272 (GRCh38)
12:49260055 (GRCh37)
Canonical SPDI:: NC_000012.12:48866255:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000012.12:48866255:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000012.12:48866255:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:48866255:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000012.12:48866255:GTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: RND1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GT=0.4427/2217 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000012.12:g.48866256GT[8], NC_000012.12:g.48866256GT[9], NC_000012.12:g.48866256GT[11], NC_000012.12:g.48866256GT[12], NC_000012.12:g.48866256GT[13], NC_000012.11:g.49260039GT[8], NC_000012.11:g.49260039GT[9], NC_000012.11:g.49260039GT[11], NC_000012.11:g.49260039GT[12], NC_000012.11:g.49260039GT[13]

Select item 14909427727.

rs1490942772 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:48861980 (GRCh38)
12:49255763 (GRCh37)
Canonical SPDI:: NC_000012.12:48861979:T:C
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.48861980T>C, NC_000012.11:g.49255763T>C

Select item 14905174508.

rs1490517450 [Homo sapiens]

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

Select item 14904671169.

rs1490467116 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48860460 (GRCh38)
12:49254243 (GRCh37)
Canonical SPDI:: NC_000012.12:48860459:C:T
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48860460C>T, NC_000012.11:g.49254243C>T

Select item 148997524210.

rs1489975242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48860020 (GRCh38)
12:49253803 (GRCh37)
Canonical SPDI:: NC_000012.12:48860019:C:T
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48860020C>T, NC_000012.11:g.49253803C>T

Select item 148975484911.

rs1489754849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48863345 (GRCh38)
12:49257128 (GRCh37)
Canonical SPDI:: NC_000012.12:48863344:G:A
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48863345G>A, NC_000012.11:g.49257128G>A

Select item 148952503012.

rs1489525030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:48865782 (GRCh38)
12:49259565 (GRCh37)
Canonical SPDI:: NC_000012.12:48865781:C:T
Gene:: RND1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48865782C>T, NC_000012.11:g.49259565C>T, NM_014470.4:c.-15G>A, NM_014470.3:c.-15G>A

Select item 148889785413.

rs1488897854 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:48863260 (GRCh38)
12:49257043 (GRCh37)
Canonical SPDI:: NC_000012.12:48863259:T:A,NC_000012.12:48863259:T:C
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000012.12:g.48863260T>A, NC_000012.12:g.48863260T>C, NC_000012.11:g.49257043T>A, NC_000012.11:g.49257043T>C

Select item 148878339514.

rs1488783395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48865774 (GRCh38)
12:49259557 (GRCh37)
Canonical SPDI:: NC_000012.12:48865773:A:G
Gene:: RND1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.48865774A>G, NC_000012.11:g.49259557A>G, NM_014470.4:c.-7T>C, NM_014470.3:c.-7T>C

Select item 148844546715.

rs1488445467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:48856656 (GRCh38)
12:49250439 (GRCh37)
Canonical SPDI:: NC_000012.12:48856655:A:G
Gene:: RND1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.48856656A>G, NC_000012.11:g.49250439A>G

Select item 148800752016.

rs1488007520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:48867452 (GRCh38)
12:49261235 (GRCh37)
Canonical SPDI:: NC_000012.12:48867451:C:G
Gene:: RND1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000012.12:g.48867452C>G, NC_000012.11:g.49261235C>G

Select item 148779940217.

rs1487799402 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:48862237 (GRCh38)
12:49256020 (GRCh37)
Canonical SPDI:: NC_000012.12:48862236:G:A
Gene:: RND1 (Varview)
Functional Consequence:: intron_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_000012.12:g.48862237G>A, NC_000012.11:g.49256020G>A

Select item 148714559318.

rs1487145593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:48864918 (GRCh38)
12:49258701 (GRCh37)
Canonical SPDI:: NC_000012.12:48864917:T:A
Gene:: RND1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.48864918T>A, NC_000012.11:g.49258701T>A

Select item 148710540919.

rs1487105409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:48858538 (GRCh38)
12:49252321 (GRCh37)
Canonical SPDI:: NC_000012.12:48858537:C:A
Gene:: RND1 (Varview)
Functional Consequence:: intron_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_000012.12:g.48858538C>A, NC_000012.11:g.49252321C>A

Select item 148658230120.

rs1486582301 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 12:48857706 (GRCh38)
12:49251489 (GRCh37)
Canonical SPDI:: NC_000012.12:48857705:CCCCCC:CCCCC,NC_000012.12:48857705:CCCCCC:CCCCCCC
Gene:: RND1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000012.12:g.48857711del, NC_000012.12:g.48857711dup, NC_000012.11:g.49251494del, NC_000012.11:g.49251494dup, NM_014470.4:c.*290del, NM_014470.4:c.*290dup, NM_014470.3:c.*290del, NM_014470.3:c.*290dup

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