SNP Links for Gene (Select 440699) - SNP

Links from Gene

Items: 1 to 20 of 4763

<< First< Prev

Page of 239

Next >Last >>

Select item 14915140101.

rs1491514010 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:165562853 (GRCh38)
1:165532090 (GRCh37)
Canonical SPDI:: NC_000001.11:165562851:TAT:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.165562853_165562854del, NC_000001.10:g.165532090_165532091del

Select item 14914223462.

rs1491422346 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:165546232 (GRCh38)
1:165515469 (GRCh37)
Canonical SPDI:: NC_000001.11:165546230:ATA:A
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.165546232_165546233del, NC_000001.10:g.165515469_165515470del

Select item 14909205943.

rs1490920594 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:165543806 (GRCh38)
1:165513043 (GRCh37)
Canonical SPDI:: NC_000001.11:165543805:G:A,NC_000001.11:165543805:G:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.165543806G>A, NC_000001.11:g.165543806G>T, NC_000001.10:g.165513043G>A, NC_000001.10:g.165513043G>T

Select item 14908876644.

rs1490887664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:165559283 (GRCh38)
1:165528520 (GRCh37)
Canonical SPDI:: NC_000001.11:165559282:G:A
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.165559283G>A, NC_000001.10:g.165528520G>A

Select item 14908357795.

rs1490835779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:165560340 (GRCh38)
1:165529577 (GRCh37)
Canonical SPDI:: NC_000001.11:165560339:T:C
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.165560340T>C, NC_000001.10:g.165529577T>C

Select item 14905465586.

rs1490546558 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:165552342 (GRCh38)
1:165521579 (GRCh37)
Canonical SPDI:: NC_000001.11:165552341:C:A
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.165552342C>A, NC_000001.10:g.165521579C>A

Select item 14904091017.

rs1490409101 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:165542365 (GRCh38)
1:165511602 (GRCh37)
Canonical SPDI:: NC_000001.11:165542364:G:A
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_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_000001.11:g.165542365G>A, NC_000001.10:g.165511602G>A

Select item 14903968248.

rs1490396824 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCA>- [Show Flanks]
Chromosome:: 1:165559762 (GRCh38)
1:165528999 (GRCh37)
Canonical SPDI:: NC_000001.11:165559756:CATCATCA:CATCA
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.165559759TCA[1], NC_000001.10:g.165528996TCA[1]

Select item 14900965559.

rs1490096555 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:165557806 (GRCh38)
1:165527043 (GRCh37)
Canonical SPDI:: NC_000001.11:165557805:G:A
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.165557806G>A, NC_000001.10:g.165527043G>A

Select item 149007077410.

rs1490070774 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGA>- [Show Flanks]
Chromosome:: 1:165558880 (GRCh38)
1:165528117 (GRCh37)
Canonical SPDI:: NC_000001.11:165558876:AGAAAGA:AGA
Gene:: LRRC52-AS1 (Varview), LRRC52 (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_000001.11:g.165558880_165558883del, NC_000001.10:g.165528117_165528120del

Select item 148966857311.

rs1489668573 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165556351 (GRCh38)
1:165525588 (GRCh37)
Canonical SPDI:: NC_000001.11:165556350:C:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.165556351C>T, NC_000001.10:g.165525588C>T

Select item 148950114212.

rs1489501142 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:165547156 (GRCh38)
1:165516393 (GRCh37)
Canonical SPDI:: NC_000001.11:165547155:A:G,NC_000001.11:165547155:A:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000049/13 (TOPMED)
HGVS:: NC_000001.11:g.165547156A>G, NC_000001.11:g.165547156A>T, NC_000001.10:g.165516393A>G, NC_000001.10:g.165516393A>T

Select item 148933558213.

rs1489335582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:165553276 (GRCh38)
1:165522513 (GRCh37)
Canonical SPDI:: NC_000001.11:165553275:A:G
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.165553276A>G, NC_000001.10:g.165522513A>G

Select item 148924221414.

rs1489242214 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:165547666 (GRCh38)
1:165516903 (GRCh37)
Canonical SPDI:: NC_000001.11:165547665:T:C,NC_000001.11:165547665:T:G
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.165547666T>C, NC_000001.11:g.165547666T>G, NC_000001.10:g.165516903T>C, NC_000001.10:g.165516903T>G

Select item 148883651915.

rs1488836519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:165546213 (GRCh38)
1:165515450 (GRCh37)
Canonical SPDI:: NC_000001.11:165546212:A:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.165546213A>T, NC_000001.10:g.165515450A>T

Select item 148879083516.

rs1488790835 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:165561909 (GRCh38)
1:165531146 (GRCh37)
Canonical SPDI:: NC_000001.11:165561908:A:G
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_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_000001.11:g.165561909A>G, NC_000001.10:g.165531146A>G

Select item 148873116217.

rs1488731162 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:165545368 (GRCh38)
1:165514605 (GRCh37)
Canonical SPDI:: NC_000001.11:165545367:A:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.165545368A>T, NC_000001.10:g.165514605A>T

Select item 148864320118.

rs1488643201 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:165558772 (GRCh38)
1:165528009 (GRCh37)
Canonical SPDI:: NC_000001.11:165558771:T:A,NC_000001.11:165558771:T:C
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
T=0./0 (SGDP_PRJ)
C=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.165558772T>A, NC_000001.11:g.165558772T>C, NC_000001.10:g.165528009T>A, NC_000001.10:g.165528009T>C

Select item 148832413819.

rs1488324138 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:165544964 (GRCh38)
1:165514201 (GRCh37)
Canonical SPDI:: NC_000001.11:165544963:C:T
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.165544964C>T, NC_000001.10:g.165514201C>T

Select item 148793592620.

rs1487935926 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:165544874 (GRCh38)
1:165514111 (GRCh37)
Canonical SPDI:: NC_000001.11:165544873:T:C
Gene:: LRRC52-AS1 (Varview), LRRC52 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000029/4 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000001.11:g.165544874T>C, NC_000001.10:g.165514111T>C, NM_001005214.4:c.578T>C, NM_001005214.3:c.578T>C, NP_001005214.2:p.Leu193Pro

<< First< Prev

Page of 239

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 4763

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity