SNP Links for Protein (Select 33239443) - SNP

Select item 14869018441.

rs1486901844 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106097720 (GRCh38)
7:105738166 (GRCh37)
Canonical SPDI:: NC_000007.14:106097719:C:T
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097720C>T, NC_000007.13:g.105738166C>T, NM_006754.5:c.426G>A, NM_006754.4:c.426G>A, NM_006754.3:c.426G>A, NM_182715.4:c.372G>A, NM_182715.3:c.372G>A, NM_182715.2:c.372G>A, NR_167730.1:n.610G>A, NM_001381920.1:c.372G>A, NM_001381918.1:c.426G>A, NM_001381921.1:c.372G>A, NM_001381919.1:c.426G>A, NM_001381911.1:c.450G>A, NM_001381910.1:c.504G>A, NM_001381912.1:c.360G>A, NM_001381917.1:c.-25G>A, NM_001381913.1:c.426G>A

Select item 14828359672.

rs1482835967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 7:106093111 (GRCh38)
7:105733557 (GRCh37)
Canonical SPDI:: NC_000007.14:106093110:A:C,NC_000007.14:106093110:A:T
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106093111A>C, NC_000007.14:g.106093111A>T, NC_000007.13:g.105733557A>C, NC_000007.13:g.105733557A>T, NM_006754.5:c.483T>G, NM_006754.5:c.483T>A, NM_006754.4:c.483T>G, NM_006754.4:c.483T>A, NM_006754.3:c.483T>G, NM_006754.3:c.483T>A, NM_182715.4:c.429T>G, NM_182715.4:c.429T>A, NM_182715.3:c.429T>G, NM_182715.3:c.429T>A, NM_182715.2:c.429T>G, NM_182715.2:c.429T>A, NR_167730.1:n.667T>G, NR_167730.1:n.667T>A, NM_001381920.1:c.429T>G, NM_001381920.1:c.429T>A, NM_001381918.1:c.483T>G, NM_001381918.1:c.483T>A, NM_001381921.1:c.429T>G, NM_001381921.1:c.429T>A, NM_001381919.1:c.483T>G, NM_001381919.1:c.483T>A, NM_001381911.1:c.507T>G, NM_001381911.1:c.507T>A, NM_001381910.1:c.561T>G, NM_001381910.1:c.561T>A, NM_001381912.1:c.417T>G, NM_001381912.1:c.417T>A, NR_167729.1:n.457T>G, NR_167729.1:n.457T>A, NM_001381917.1:c.33T>G, NM_001381917.1:c.33T>A, NM_001381916.1:c.96T>G, NM_001381916.1:c.96T>A, NM_001381915.1:c.96T>G, NM_001381915.1:c.96T>A

Select item 14754607853.

rs1475460785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:106091938 (GRCh38)
7:105732384 (GRCh37)
Canonical SPDI:: NC_000007.14:106091937:A:G
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106091938A>G, NC_000007.13:g.105732384A>G, NM_006754.5:c.647T>C, NM_006754.4:c.647T>C, NM_006754.3:c.647T>C, NM_182715.4:c.593T>C, NM_182715.3:c.593T>C, NM_182715.2:c.593T>C, NR_167730.1:n.831T>C, NM_001381920.1:c.*40T>C, NM_001381918.1:c.*40T>C, NM_001381921.1:c.*24T>C, NM_001381919.1:c.*24T>C, NM_001381911.1:c.671T>C, NM_001381910.1:c.725T>C, NM_001381912.1:c.581T>C, NR_167729.1:n.621T>C, NM_001381917.1:c.197T>C, NM_001381913.1:c.458T>C, NM_001381916.1:c.*40T>C, NM_001381915.1:c.260T>C, NP_006745.1:p.Ile216Thr, NP_874384.1:p.Ile198Thr, NP_001368840.1:p.Ile224Thr, NP_001368839.1:p.Ile242Thr, NP_001368841.1:p.Ile194Thr, NP_001368846.1:p.Ile66Thr, NP_001368842.1:p.Ile153Thr, NP_001368844.1:p.Ile87Thr

Select item 14727370934.

rs1472737093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:106099170 (GRCh38)
7:105739616 (GRCh37)
Canonical SPDI:: NC_000007.14:106099169:C:T
Gene:: SYPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106099170C>T, NC_000007.13:g.105739616C>T, NM_006754.5:c.236G>A, NM_006754.4:c.236G>A, NM_006754.3:c.236G>A, NM_182715.4:c.182G>A, NM_182715.3:c.182G>A, NM_182715.2:c.182G>A, NR_167730.1:n.420G>A, NM_001381920.1:c.182G>A, NM_001381918.1:c.236G>A, NM_001381921.1:c.182G>A, NM_001381919.1:c.236G>A, NM_001381911.1:c.260G>A, NM_001381910.1:c.314G>A, NM_001381912.1:c.170G>A, NR_167729.1:n.286G>A, NM_001381913.1:c.236G>A, NP_006745.1:p.Gly79Asp, NP_874384.1:p.Gly61Asp, NP_001368849.1:p.Gly61Asp, NP_001368847.1:p.Gly79Asp, NP_001368850.1:p.Gly61Asp, NP_001368848.1:p.Gly79Asp, NP_001368840.1:p.Gly87Asp, NP_001368839.1:p.Gly105Asp, NP_001368841.1:p.Gly57Asp, NP_001368842.1:p.Gly79Asp

Select item 14724241245.

rs1472424124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:106093023 (GRCh38)
7:105733469 (GRCh37)
Canonical SPDI:: NC_000007.14:106093022:G:C
Gene:: SYPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000007.14:g.106093023G>C, NC_000007.13:g.105733469G>C, NM_006754.5:c.571C>G, NM_006754.4:c.571C>G, NM_006754.3:c.571C>G, NM_182715.4:c.517C>G, NM_182715.3:c.517C>G, NM_182715.2:c.517C>G, NR_167730.1:n.755C>G, NM_001381920.1:c.517C>G, NM_001381918.1:c.571C>G, NM_001381921.1:c.517C>G, NM_001381919.1:c.571C>G, NM_001381911.1:c.595C>G, NM_001381910.1:c.649C>G, NM_001381912.1:c.505C>G, NR_167729.1:n.545C>G, NM_001381917.1:c.121C>G, NM_001381916.1:c.184C>G, NM_001381915.1:c.184C>G, NP_006745.1:p.Pro191Ala, NP_874384.1:p.Pro173Ala, NP_001368849.1:p.Pro173Ala, NP_001368847.1:p.Pro191Ala, NP_001368850.1:p.Pro173Ala, NP_001368848.1:p.Pro191Ala, NP_001368840.1:p.Pro199Ala, NP_001368839.1:p.Pro217Ala, NP_001368841.1:p.Pro169Ala, NP_001368846.1:p.Pro41Ala, NP_001368845.1:p.Pro62Ala, NP_001368844.1:p.Pro62Ala

Select item 14690602196.

rs1469060219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:106099270 (GRCh38)
7:105739716 (GRCh37)
Canonical SPDI:: NC_000007.14:106099269:A:G
Gene:: SYPL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106099270A>G, NC_000007.13:g.105739716A>G, NM_006754.5:c.136T>C, NM_006754.4:c.136T>C, NM_006754.3:c.136T>C, NM_182715.4:c.82T>C, NM_182715.3:c.82T>C, NM_182715.2:c.82T>C, NR_167730.1:n.320T>C, NM_001381920.1:c.82T>C, NM_001381918.1:c.136T>C, NM_001381921.1:c.82T>C, NM_001381919.1:c.136T>C, NM_001381911.1:c.160T>C, NM_001381910.1:c.214T>C, NM_001381912.1:c.70T>C, NR_167729.1:n.186T>C, NM_001381913.1:c.136T>C, NP_006745.1:p.Phe46Leu, NP_874384.1:p.Phe28Leu, NP_001368849.1:p.Phe28Leu, NP_001368847.1:p.Phe46Leu, NP_001368850.1:p.Phe28Leu, NP_001368848.1:p.Phe46Leu, NP_001368840.1:p.Phe54Leu, NP_001368839.1:p.Phe72Leu, NP_001368841.1:p.Phe24Leu, NP_001368842.1:p.Phe46Leu

Select item 14677333397.

rs1467733339 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:106091844 (GRCh38)
7:105732291 (GRCh37)
Canonical SPDI:: NC_000007.14:106091844:GGGG:GGGGG
Gene:: SYPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0.000224/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.106091848dup, NC_000007.13:g.105732294dup, NM_006754.5:c.740dup, NM_006754.4:c.740dup, NM_006754.3:c.740dup, NM_182715.4:c.686dup, NM_182715.3:c.686dup, NM_182715.2:c.686dup, NR_167730.1:n.924dup, NM_001381920.1:c.*133dup, NM_001381918.1:c.*133dup, NM_001381921.1:c.*117dup, NM_001381919.1:c.*117dup, NM_001381911.1:c.764dup, NM_001381910.1:c.818dup, NM_001381912.1:c.674dup, NR_167729.1:n.714dup, NM_001381917.1:c.290dup, NM_001381913.1:c.551dup, NM_001381916.1:c.*133dup, NM_001381915.1:c.353dup, NP_006745.1:p.His248fs, NP_874384.1:p.His230fs, NP_001368840.1:p.His256fs, NP_001368839.1:p.His274fs, NP_001368841.1:p.His226fs, NP_001368846.1:p.His98fs, NP_001368842.1:p.His185fs, NP_001368844.1:p.His119fs

Select item 14644371738.

rs1464437173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:106097729 (GRCh38)
7:105738175 (GRCh37)
Canonical SPDI:: NC_000007.14:106097728:G:C
Gene:: SYPL1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097729G>C, NC_000007.13:g.105738175G>C, NM_006754.5:c.417C>G, NM_006754.4:c.417C>G, NM_006754.3:c.417C>G, NM_182715.4:c.363C>G, NM_182715.3:c.363C>G, NM_182715.2:c.363C>G, NR_167730.1:n.601C>G, NM_001381920.1:c.363C>G, NM_001381918.1:c.417C>G, NM_001381921.1:c.363C>G, NM_001381919.1:c.417C>G, NM_001381911.1:c.441C>G, NM_001381910.1:c.495C>G, NM_001381912.1:c.351C>G, NM_001381917.1:c.-34C>G, NM_001381913.1:c.417C>G, NP_006745.1:p.Tyr139Ter, NP_874384.1:p.Tyr121Ter, NP_001368849.1:p.Tyr121Ter, NP_001368847.1:p.Tyr139Ter, NP_001368850.1:p.Tyr121Ter, NP_001368848.1:p.Tyr139Ter, NP_001368840.1:p.Tyr147Ter, NP_001368839.1:p.Tyr165Ter, NP_001368841.1:p.Tyr117Ter, NP_001368842.1:p.Tyr139Ter

Select item 14640041879.

rs1464004187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:106112200 (GRCh38)
7:105752646 (GRCh37)
Canonical SPDI:: NC_000007.14:106112199:G:A
Gene:: SYPL1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000007.14:g.106112200G>A, NC_000007.13:g.105752646G>A, NM_006754.5:c.63C>T, NM_006754.4:c.63C>T, NM_006754.3:c.63C>T, NM_182715.4:c.9C>T, NM_182715.3:c.9C>T, NM_182715.2:c.9C>T, NR_167730.1:n.113C>T, NM_001381920.1:c.9C>T, NM_001381918.1:c.63C>T, NM_001381921.1:c.9C>T, NM_001381919.1:c.63C>T, NM_001381911.1:c.9C>T, NM_001381910.1:c.63C>T, NM_001381912.1:c.9C>T, NR_167729.1:n.113C>T, NM_001381917.1:c.-263C>T, NM_001381913.1:c.63C>T, NM_001381916.1:c.9C>T, NM_001381915.1:c.9C>T

Select item 146134972510.

rs1461349725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:106091926 (GRCh38)
7:105732372 (GRCh37)
Canonical SPDI:: NC_000007.14:106091925:A:T
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.106091926A>T, NC_000007.13:g.105732372A>T, NM_006754.5:c.659T>A, NM_006754.4:c.659T>A, NM_006754.3:c.659T>A, NM_182715.4:c.605T>A, NM_182715.3:c.605T>A, NM_182715.2:c.605T>A, NR_167730.1:n.843T>A, NM_001381920.1:c.*52T>A, NM_001381918.1:c.*52T>A, NM_001381921.1:c.*36T>A, NM_001381919.1:c.*36T>A, NM_001381911.1:c.683T>A, NM_001381910.1:c.737T>A, NM_001381912.1:c.593T>A, NR_167729.1:n.633T>A, NM_001381917.1:c.209T>A, NM_001381913.1:c.470T>A, NM_001381916.1:c.*52T>A, NM_001381915.1:c.272T>A, NP_006745.1:p.Leu220Gln, NP_874384.1:p.Leu202Gln, NP_001368840.1:p.Leu228Gln, NP_001368839.1:p.Leu246Gln, NP_001368841.1:p.Leu198Gln, NP_001368846.1:p.Leu70Gln, NP_001368842.1:p.Leu157Gln, NP_001368844.1:p.Leu91Gln

Select item 145607602711.

rs1456076027 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:106097846 (GRCh38)
7:105738292 (GRCh37)
Canonical SPDI:: NC_000007.14:106097845:T:C
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.106097846T>C, NC_000007.13:g.105738292T>C, NM_006754.5:c.300A>G, NM_006754.4:c.300A>G, NM_006754.3:c.300A>G, NM_182715.4:c.246A>G, NM_182715.3:c.246A>G, NM_182715.2:c.246A>G, NR_167730.1:n.484A>G, NM_001381920.1:c.246A>G, NM_001381918.1:c.300A>G, NM_001381921.1:c.246A>G, NM_001381919.1:c.300A>G, NM_001381911.1:c.324A>G, NM_001381910.1:c.378A>G, NM_001381912.1:c.234A>G, NR_167729.1:n.350A>G, NM_001381917.1:c.-151A>G, NM_001381913.1:c.300A>G

Select item 145490160912.

rs1454901609 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:106097770 (GRCh38)
7:105738216 (GRCh37)
Canonical SPDI:: NC_000007.14:106097769:A:G
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097770A>G, NC_000007.13:g.105738216A>G, NM_006754.5:c.376T>C, NM_006754.4:c.376T>C, NM_006754.3:c.376T>C, NM_182715.4:c.322T>C, NM_182715.3:c.322T>C, NM_182715.2:c.322T>C, NR_167730.1:n.560T>C, NM_001381920.1:c.322T>C, NM_001381918.1:c.376T>C, NM_001381921.1:c.322T>C, NM_001381919.1:c.376T>C, NM_001381911.1:c.400T>C, NM_001381910.1:c.454T>C, NM_001381912.1:c.310T>C, NR_167729.1:n.426T>C, NM_001381917.1:c.-75T>C, NM_001381913.1:c.376T>C, NP_006745.1:p.Phe126Leu, NP_874384.1:p.Phe108Leu, NP_001368849.1:p.Phe108Leu, NP_001368847.1:p.Phe126Leu, NP_001368850.1:p.Phe108Leu, NP_001368848.1:p.Phe126Leu, NP_001368840.1:p.Phe134Leu, NP_001368839.1:p.Phe152Leu, NP_001368841.1:p.Phe104Leu, NP_001368842.1:p.Phe126Leu

Select item 145029835613.

rs1450298356 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:106099223 (GRCh38)
7:105739669 (GRCh37)
Canonical SPDI:: NC_000007.14:106099222:T:C
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.106099223T>C, NC_000007.13:g.105739669T>C, NM_006754.5:c.183A>G, NM_006754.4:c.183A>G, NM_006754.3:c.183A>G, NM_182715.4:c.129A>G, NM_182715.3:c.129A>G, NM_182715.2:c.129A>G, NR_167730.1:n.367A>G, NM_001381920.1:c.129A>G, NM_001381918.1:c.183A>G, NM_001381921.1:c.129A>G, NM_001381919.1:c.183A>G, NM_001381911.1:c.207A>G, NM_001381910.1:c.261A>G, NM_001381912.1:c.117A>G, NR_167729.1:n.233A>G, NM_001381913.1:c.183A>G

Select item 145026175114.

rs1450261751 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:106093013 (GRCh38)
7:105733459 (GRCh37)
Canonical SPDI:: NC_000007.14:106093012:T:G
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.106093013T>G, NC_000007.13:g.105733459T>G, NM_006754.5:c.581A>C, NM_006754.4:c.581A>C, NM_006754.3:c.581A>C, NM_182715.4:c.527A>C, NM_182715.3:c.527A>C, NM_182715.2:c.527A>C, NR_167730.1:n.765A>C, NM_001381920.1:c.527A>C, NM_001381918.1:c.581A>C, NM_001381921.1:c.527A>C, NM_001381919.1:c.581A>C, NM_001381911.1:c.605A>C, NM_001381910.1:c.659A>C, NM_001381912.1:c.515A>C, NR_167729.1:n.555A>C, NM_001381917.1:c.131A>C, NM_001381916.1:c.194A>C, NM_001381915.1:c.194A>C, NP_006745.1:p.Lys194Thr, NP_874384.1:p.Lys176Thr, NP_001368849.1:p.Lys176Thr, NP_001368847.1:p.Lys194Thr, NP_001368850.1:p.Lys176Thr, NP_001368848.1:p.Lys194Thr, NP_001368840.1:p.Lys202Thr, NP_001368839.1:p.Lys220Thr, NP_001368841.1:p.Lys172Thr, NP_001368846.1:p.Lys44Thr, NP_001368845.1:p.Lys65Thr, NP_001368844.1:p.Lys65Thr

Select item 144089322615.

rs1440893226 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:106091829 (GRCh38)
7:105732275 (GRCh37)
Canonical SPDI:: NC_000007.14:106091828:A:T
Gene:: SYPL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106091829A>T, NC_000007.13:g.105732275A>T, NM_006754.5:c.756T>A, NM_006754.4:c.756T>A, NM_006754.3:c.756T>A, NM_182715.4:c.702T>A, NM_182715.3:c.702T>A, NM_182715.2:c.702T>A, NR_167730.1:n.940T>A, NM_001381920.1:c.*149T>A, NM_001381918.1:c.*149T>A, NM_001381921.1:c.*133T>A, NM_001381919.1:c.*133T>A, NM_001381911.1:c.780T>A, NM_001381910.1:c.834T>A, NM_001381912.1:c.690T>A, NR_167729.1:n.730T>A, NM_001381917.1:c.306T>A, NM_001381913.1:c.567T>A, NM_001381916.1:c.*149T>A, NM_001381915.1:c.369T>A

Select item 143358987916.

rs1433589879 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:106097783 (GRCh38)
7:105738229 (GRCh37)
Canonical SPDI:: NC_000007.14:106097782:A:G
Gene:: SYPL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097783A>G, NC_000007.13:g.105738229A>G, NM_006754.5:c.363T>C, NM_006754.4:c.363T>C, NM_006754.3:c.363T>C, NM_182715.4:c.309T>C, NM_182715.3:c.309T>C, NM_182715.2:c.309T>C, NR_167730.1:n.547T>C, NM_001381920.1:c.309T>C, NM_001381918.1:c.363T>C, NM_001381921.1:c.309T>C, NM_001381919.1:c.363T>C, NM_001381911.1:c.387T>C, NM_001381910.1:c.441T>C, NM_001381912.1:c.297T>C, NR_167729.1:n.413T>C, NM_001381917.1:c.-88T>C, NM_001381913.1:c.363T>C

Select item 143337534717.

rs1433375347 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:106097746 (GRCh38)
7:105738192 (GRCh37)
Canonical SPDI:: NC_000007.14:106097745:G:C
Gene:: SYPL1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097746G>C, NC_000007.13:g.105738192G>C, NM_006754.5:c.400C>G, NM_006754.4:c.400C>G, NM_006754.3:c.400C>G, NM_182715.4:c.346C>G, NM_182715.3:c.346C>G, NM_182715.2:c.346C>G, NR_167730.1:n.584C>G, NM_001381920.1:c.346C>G, NM_001381918.1:c.400C>G, NM_001381921.1:c.346C>G, NM_001381919.1:c.400C>G, NM_001381911.1:c.424C>G, NM_001381910.1:c.478C>G, NM_001381912.1:c.334C>G, NM_001381917.1:c.-51C>G, NM_001381913.1:c.400C>G, NP_006745.1:p.Leu134Val, NP_874384.1:p.Leu116Val, NP_001368849.1:p.Leu116Val, NP_001368847.1:p.Leu134Val, NP_001368850.1:p.Leu116Val, NP_001368848.1:p.Leu134Val, NP_001368840.1:p.Leu142Val, NP_001368839.1:p.Leu160Val, NP_001368841.1:p.Leu112Val, NP_001368842.1:p.Leu134Val

Select item 142727223418.

rs1427272234 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:106093105 (GRCh38)
7:105733552 (GRCh37)
Canonical SPDI:: NC_000007.14:106093105:AAAAAA:AAAAAAA
Gene:: SYPL1 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000007.14:g.106093111dup, NC_000007.13:g.105733557dup, NM_006754.5:c.488dup, NM_006754.4:c.488dup, NM_006754.3:c.488dup, NM_182715.4:c.434dup, NM_182715.3:c.434dup, NM_182715.2:c.434dup, NR_167730.1:n.672dup, NM_001381920.1:c.434dup, NM_001381918.1:c.488dup, NM_001381921.1:c.434dup, NM_001381919.1:c.488dup, NM_001381911.1:c.512dup, NM_001381910.1:c.566dup, NM_001381912.1:c.422dup, NR_167729.1:n.462dup, NM_001381917.1:c.38dup, NM_001381916.1:c.101dup, NM_001381915.1:c.101dup, NP_006745.1:p.Leu163fs, NP_874384.1:p.Leu145fs, NP_001368849.1:p.Leu145fs, NP_001368847.1:p.Leu163fs, NP_001368850.1:p.Leu145fs, NP_001368848.1:p.Leu163fs, NP_001368840.1:p.Leu171fs, NP_001368839.1:p.Leu189fs, NP_001368841.1:p.Leu141fs, NP_001368846.1:p.Leu13fs, NP_001368845.1:p.Leu34fs, NP_001368844.1:p.Leu34fs

Select item 142286495019.

rs1422864950 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:106091805 (GRCh38)
7:105732251 (GRCh37)
Canonical SPDI:: NC_000007.14:106091804:T:C
Gene:: SYPL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,terminator_codon_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.106091805T>C, NC_000007.13:g.105732251T>C, NM_006754.5:c.780A>G, NM_006754.4:c.780A>G, NM_006754.3:c.780A>G, NM_182715.4:c.726A>G, NM_182715.3:c.726A>G, NM_182715.2:c.726A>G, NR_167730.1:n.964A>G, NM_001381920.1:c.*173A>G, NM_001381918.1:c.*173A>G, NM_001381921.1:c.*157A>G, NM_001381919.1:c.*157A>G, NM_001381911.1:c.804A>G, NM_001381910.1:c.858A>G, NM_001381912.1:c.714A>G, NR_167729.1:n.754A>G, NM_001381917.1:c.330A>G, NM_001381913.1:c.591A>G, NM_001381916.1:c.*173A>G, NM_001381915.1:c.393A>G

Select item 141071783220.

rs1410717832 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:106097880 (GRCh38)
7:105738326 (GRCh37)
Canonical SPDI:: NC_000007.14:106097879:A:C
Gene:: SYPL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.106097880A>C, NC_000007.13:g.105738326A>C, NM_006754.5:c.266T>G, NM_006754.4:c.266T>G, NM_006754.3:c.266T>G, NM_182715.4:c.212T>G, NM_182715.3:c.212T>G, NM_182715.2:c.212T>G, NR_167730.1:n.450T>G, NM_001381920.1:c.212T>G, NM_001381918.1:c.266T>G, NM_001381921.1:c.212T>G, NM_001381919.1:c.266T>G, NM_001381911.1:c.290T>G, NM_001381910.1:c.344T>G, NM_001381912.1:c.200T>G, NR_167729.1:n.316T>G, NM_001381917.1:c.-185T>G, NM_001381913.1:c.266T>G, NP_006745.1:p.Phe89Cys, NP_874384.1:p.Phe71Cys, NP_001368849.1:p.Phe71Cys, NP_001368847.1:p.Phe89Cys, NP_001368850.1:p.Phe71Cys, NP_001368848.1:p.Phe89Cys, NP_001368840.1:p.Phe97Cys, NP_001368839.1:p.Phe115Cys, NP_001368841.1:p.Phe67Cys, NP_001368842.1:p.Phe89Cys

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Result Filters

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Items: 1 to 20 of 211

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