SNP Links for Gene (Select 65999) - SNP

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Items: 1 to 20 of 4374

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Select item 14915709301.

rs1491570930 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:150337539 (GRCh38)
7:150034628 (GRCh37)
Canonical SPDI:: NC_000007.14:150337534:ACACAC:ACAC
Gene:: LRRC61 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0./0 (ALFA)
-=0.00005/12 (GnomAD_exomes)
-=0.000098/26 (TOPMED)
-=0.000114/16 (GnomAD)
HGVS:: NC_000007.14:g.150337535AC[2], NC_000007.13:g.150034624AC[2], NM_023942.3:c.678_679del, NM_023942.2:c.678_679del, NM_001142928.2:c.678_679del, NM_001142928.1:c.678_679del, NM_001363435.2:c.678_679del, NM_001363433.1:c.678_679del, NM_001363434.1:c.678_679del, NM_001363435.1:c.678_679del, NP_076431.1:p.Leu227fs, NP_001136400.1:p.Leu227fs, NP_001350362.1:p.Leu227fs, NP_001350363.1:p.Leu227fs

Select item 14913634822.

rs1491363482 [Homo sapiens]

Variant type:: INS
Alleles:: ->GTG,GTGCTG [Show Flanks]
Chromosome:: 7:150337535 (GRCh38)
7:150034625 (GRCh37)
Canonical SPDI:: NC_000007.14:150337535::GTG,NC_000007.14:150337535::GTGCTG
Gene:: LRRC61 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GTGCTG=0.000017/4 (GnomAD_exomes)
HGVS:: NC_000007.14:g.150337535_150337536insGTG, NC_000007.14:g.150337535_150337536insGTGCTG, NC_000007.13:g.150034624_150034625insGTG, NC_000007.13:g.150034624_150034625insGTGCTG, NM_023942.3:c.674_675insGTG, NM_023942.3:c.674_675insGTGCTG, NM_023942.2:c.674_675insGTG, NM_023942.2:c.674_675insGTGCTG, NM_001142928.2:c.674_675insGTG, NM_001142928.2:c.674_675insGTGCTG, NM_001142928.1:c.674_675insGTG, NM_001142928.1:c.674_675insGTGCTG, NM_001363435.2:c.674_675insGTG, NM_001363435.2:c.674_675insGTGCTG, NM_001363433.1:c.674_675insGTG, NM_001363433.1:c.674_675insGTGCTG, NM_001363434.1:c.674_675insGTG, NM_001363434.1:c.674_675insGTGCTG, NM_001363435.1:c.674_675insGTG, NM_001363435.1:c.674_675insGTGCTG, NP_076431.1:p.Asp225delinsGluCys, NP_076431.1:p.Asp225delinsGluCysCys, NP_001136400.1:p.Asp225delinsGluCys, NP_001136400.1:p.Asp225delinsGluCysCys, NP_001350362.1:p.Asp225delinsGluCys, NP_001350362.1:p.Asp225delinsGluCysCys, NP_001350363.1:p.Asp225delinsGluCys, NP_001350363.1:p.Asp225delinsGluCysCys

Select item 14909194343.

rs1490919434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150326099 (GRCh38)
7:150023188 (GRCh37)
Canonical SPDI:: NC_000007.14:150326098:C:T
Gene:: LRRC61 (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_000007.14:g.150326099C>T, NC_000007.13:g.150023188C>T

Select item 14908524174.

rs1490852417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150325144 (GRCh38)
7:150022233 (GRCh37)
Canonical SPDI:: NC_000007.14:150325143:C:T
Gene:: LRRC61 (Varview), ACTR3C (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.150325144C>T, NC_000007.13:g.150022233C>T

Select item 14908243145.

rs1490824314 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:150323448 (GRCh38)
7:150020537 (GRCh37)
Canonical SPDI:: NC_000007.14:150323447:C:A
Gene:: LRRC61 (Varview), ACTR3C (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150323448C>A, NC_000007.13:g.150020537C>A, NM_023942.3:c.-257C>A, NM_023942.2:c.-257C>A, NM_001142928.2:c.-427C>A, NM_001142928.1:c.-427C>A, NM_001363435.2:c.-257C>A, NM_001363435.1:c.-257C>A

Select item 14906566336.

rs1490656633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150330365 (GRCh38)
7:150027454 (GRCh37)
Canonical SPDI:: NC_000007.14:150330364:C:T
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
HGVS:: NC_000007.14:g.150330365C>T, NC_000007.13:g.150027454C>T, NM_138434.2:c.-40C>T, NR_173326.1:n.183C>T

Select item 14903451087.

rs1490345108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150332220 (GRCh38)
7:150029309 (GRCh37)
Canonical SPDI:: NC_000007.14:150332219:G:A
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150332220G>A, NC_000007.13:g.150029309G>A, NM_138434.2:c.*1105G>A, NR_173326.1:n.2038G>A

Select item 14901132198.

rs1490113219 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:150333401 (GRCh38)
7:150030490 (GRCh37)
Canonical SPDI:: NC_000007.14:150333400:T:G
Gene:: LRRC61 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150333401T>G, NC_000007.13:g.150030490T>G

Select item 14900634139.

rs1490063413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150334314 (GRCh38)
7:150031403 (GRCh37)
Canonical SPDI:: NC_000007.14:150334313:G:A
Gene:: LRRC61 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150334314G>A, NC_000007.13:g.150031403G>A

Select item 148995154710.

rs1489951547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:150332971 (GRCh38)
7:150030060 (GRCh37)
Canonical SPDI:: NC_000007.14:150332970:G:A,NC_000007.14:150332970:G:C
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.150332971G>A, NC_000007.14:g.150332971G>C, NC_000007.13:g.150030060G>A, NC_000007.13:g.150030060G>C

Select item 148975283111.

rs1489752831 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150326628 (GRCh38)
7:150023717 (GRCh37)
Canonical SPDI:: NC_000007.14:150326627:A:G
Gene:: LRRC61 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.150326628A>G, NC_000007.13:g.150023717A>G

Select item 148971651312.

rs1489716513 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150338036 (GRCh38)
7:150035125 (GRCh37)
Canonical SPDI:: NC_000007.14:150338035:G:A
Gene:: RARRES2 (Varview), LRRC61 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150338036G>A, NC_000007.13:g.150035125G>A, NM_023942.3:c.*395G>A, NM_023942.2:c.*395G>A, NM_001142928.2:c.*395G>A, NM_001142928.1:c.*395G>A, NM_001363435.2:c.*395G>A, NM_001363433.1:c.*395G>A, NM_001363434.1:c.*395G>A, NM_001363435.1:c.*395G>A

Select item 148961858013.

rs1489618580 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:150325531 (GRCh38)
7:150022620 (GRCh37)
Canonical SPDI:: NC_000007.14:150325530:A:C
Gene:: LRRC61 (Varview), ACTR3C (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150325531A>C, NC_000007.13:g.150022620A>C

Select item 148955206314.

rs1489552063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:150327233 (GRCh38)
7:150024322 (GRCh37)
Canonical SPDI:: NC_000007.14:150327232:G:T
Gene:: LRRC61 (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_000007.14:g.150327233G>T, NC_000007.13:g.150024322G>T

Select item 148949721015.

rs1489497210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:150323068 (GRCh38)
7:150020157 (GRCh37)
Canonical SPDI:: NC_000007.14:150323067:A:C
Gene:: LRRC61 (Varview), ACTR3C (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.150323068A>C, NC_000007.13:g.150020157A>C, NM_001363433.1:c.-459A>C

Select item 148928927316.

rs1489289273 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:150330020 (GRCh38)
7:150027109 (GRCh37)
Canonical SPDI:: NC_000007.14:150330019:G:A
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000108/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000446/2 (Estonian)
HGVS:: NC_000007.14:g.150330020G>A, NC_000007.13:g.150027109G>A, NM_138434.2:c.-385G>A

Select item 148913210717.

rs1489132107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:150327804 (GRCh38)
7:150024893 (GRCh37)
Canonical SPDI:: NC_000007.14:150327803:A:G
Gene:: LRRC61 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150327804A>G, NC_000007.13:g.150024893A>G

Select item 148912385918.

rs1489123859 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:150331546 (GRCh38)
7:150028635 (GRCh37)
Canonical SPDI:: NC_000007.14:150331545:T:C
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.150331546T>C, NC_000007.13:g.150028635T>C, NM_138434.2:c.*431T>C, NR_173326.1:n.1364T>C

Select item 148891131019.

rs1488911310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150337256 (GRCh38)
7:150034345 (GRCh37)
Canonical SPDI:: NC_000007.14:150337255:C:T
Gene:: LRRC61 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000007.14:g.150337256C>T, NC_000007.13:g.150034345C>T, NM_023942.3:c.395C>T, NM_023942.2:c.395C>T, NM_001142928.2:c.395C>T, NM_001142928.1:c.395C>T, NM_001363435.2:c.395C>T, NM_001363433.1:c.395C>T, NM_001363434.1:c.395C>T, NM_001363435.1:c.395C>T, NP_076431.1:p.Pro132Leu, NP_001136400.1:p.Pro132Leu, NP_001350362.1:p.Pro132Leu, NP_001350363.1:p.Pro132Leu

Select item 148879570020.

rs1488795700 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:150331131 (GRCh38)
7:150028220 (GRCh37)
Canonical SPDI:: NC_000007.14:150331130:C:T
Gene:: LRRC61 (Varview), ZBED10P (Varview)
Functional Consequence:: non_coding_transcript_variant,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_000007.14:g.150331131C>T, NC_000007.13:g.150028220C>T, NM_138434.2:c.*16C>T, NR_173326.1:n.949C>T

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