SNP Links for Gene (Select 5652) - SNP

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Select item 14907741581.

rs1490774158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31135183 (GRCh38)
16:31146504 (GRCh37)
Canonical SPDI:: NC_000016.10:31135182:G:C
Gene:: PRSS8 (Varview)
Functional Consequence:: intron_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_000016.10:g.31135183G>C, NC_000016.9:g.31146504G>C

Select item 14907182562.

rs1490718256 has merged into rs372308693 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGT>-,GT,GTGTGT [Show Flanks]
Chromosome:: 16:31135918 (GRCh38)
16:31147239 (GRCh37)
Canonical SPDI:: NC_000016.10:31135910:TGTGTGTGTGT:TGTGTGT,NC_000016.10:31135910:TGTGTGTGTGT:TGTGTGTGT,NC_000016.10:31135910:TGTGTGTGTGT:TGTGTGTGTGTGT
Gene:: PRSS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000016.10:g.31135912GT[3], NC_000016.10:g.31135912GT[4], NC_000016.10:g.31135912GT[6], NC_000016.9:g.31147233GT[3], NC_000016.9:g.31147233GT[4], NC_000016.9:g.31147233GT[6]

Select item 14899562073.

rs1489956207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31134743 (GRCh38)
16:31146064 (GRCh37)
Canonical SPDI:: NC_000016.10:31134742:G:A
Gene:: PRSS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.31134743G>A, NC_000016.9:g.31146064G>A

Select item 14892371784.

rs1489237178 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31134086 (GRCh38)
16:31145407 (GRCh37)
Canonical SPDI:: NC_000016.10:31134085:C:T
Gene:: PRSS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000043/6 (GnomAD)
T=0.000045/12 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000016.10:g.31134086C>T, NC_000016.9:g.31145407C>T

Select item 14891864785.

rs1489186478 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31136626 (GRCh38)
16:31147947 (GRCh37)
Canonical SPDI:: NC_000016.10:31136625:C:T
Gene:: PRSS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000214/3 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.31136626C>T, NC_000016.9:g.31147947C>T

Select item 14887047346.

rs1488704734 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 16:31137319 (GRCh38)
16:31148640 (GRCh37)
Canonical SPDI:: NC_000016.10:31137318:G:
Gene:: PRSS8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.31137319del, NC_000016.9:g.31148640del

Select item 14862278007.

rs1486227800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31131523 (GRCh38)
16:31142844 (GRCh37)
Canonical SPDI:: NC_000016.10:31131522:G:A
Gene:: PRSS8 (Varview), KAT8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31131523G>A, NC_000016.9:g.31142844G>A, NM_002773.5:c.*486C>T, NM_002773.4:c.*486C>T, NM_002773.3:c.*486C>T

Select item 14858257028.

rs1485825702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:31133260 (GRCh38)
16:31144581 (GRCh37)
Canonical SPDI:: NC_000016.10:31133259:G:T
Gene:: PRSS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31133260G>T, NC_000016.9:g.31144581G>T, NM_002773.5:c.232C>A, NM_002773.4:c.232C>A, NM_002773.3:c.232C>A, NP_002764.1:p.Gln78Lys

Select item 14857741389.

rs1485774138 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 16:31135542 (GRCh38)
16:31146863 (GRCh37)
Canonical SPDI:: NC_000016.10:31135541:G:C,NC_000016.10:31135541:G:T
Gene:: PRSS8 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.00046/8 (TOMMO)
C=0.000546/1 (Korea1K)
C=0.000684/2 (KOREAN)
HGVS:: NC_000016.10:g.31135542G>C, NC_000016.10:g.31135542G>T, NC_000016.9:g.31146863G>C, NC_000016.9:g.31146863G>T, NM_002773.5:c.-44C>G, NM_002773.5:c.-44C>A, NM_002773.4:c.-44C>G, NM_002773.4:c.-44C>A, NM_002773.3:c.-44C>G, NM_002773.3:c.-44C>A

Select item 148567513910.

rs1485675139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:31132328 (GRCh38)
16:31143649 (GRCh37)
Canonical SPDI:: NC_000016.10:31132327:G:C
Gene:: PRSS8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31132328G>C, NC_000016.9:g.31143649G>C, NM_002773.5:c.713C>G, NM_002773.4:c.713C>G, NM_002773.3:c.713C>G, NP_002764.1:p.Ser238Cys

Select item 148554976311.

rs1485549763 [Homo sapiens]

Variant type:: DEL
Alleles:: CAGTC>- [Show Flanks]
Chromosome:: 16:31131652 (GRCh38)
16:31142973 (GRCh37)
Canonical SPDI:: NC_000016.10:31131651:CAGTC:
Gene:: PRSS8 (Varview), KAT8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000016.10:g.31131652_31131656del, NC_000016.9:g.31142973_31142977del, NM_002773.5:c.*353_*357del, NM_002773.4:c.*353_*357del, NM_002773.3:c.*353_*357del

Select item 148482590112.

rs1484825901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31135083 (GRCh38)
16:31146404 (GRCh37)
Canonical SPDI:: NC_000016.10:31135082:G:A
Gene:: PRSS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.31135083G>A, NC_000016.9:g.31146404G>A

Select item 148475789113.

rs1484757891 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:31135910 (GRCh38)
16:31147231 (GRCh37)
Canonical SPDI:: NC_000016.10:31135909:T:G
Gene:: PRSS8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31135910T>G, NC_000016.9:g.31147231T>G

Select item 148376645614.

rs1483766456 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:31131020 (GRCh38)
16:31142341 (GRCh37)
Canonical SPDI:: NC_000016.10:31131019:G:A,NC_000016.10:31131019:G:C
Gene:: PRSS8 (Varview), KAT8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by cluster
MAF:: G=0./0 (SGDP_PRJ)
C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.31131020G>A, NC_000016.10:g.31131020G>C, NC_000016.9:g.31142341G>A, NC_000016.9:g.31142341G>C, NM_182958.4:c.*28G>A, NM_182958.4:c.*28G>C, NM_182958.3:c.*28G>A, NM_182958.3:c.*28G>C, NM_182958.2:c.*28G>A, NM_182958.2:c.*28G>C

Select item 148370337115.

rs1483703371 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:31133900 (GRCh38)
16:31145221 (GRCh37)
Canonical SPDI:: NC_000016.10:31133899:T:C
Gene:: PRSS8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.31133900T>C, NC_000016.9:g.31145221T>C

Select item 148355861716.

rs1483558617 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31130966 (GRCh38)
16:31142287 (GRCh37)
Canonical SPDI:: NC_000016.10:31130965:C:T
Gene:: PRSS8 (Varview), KAT8 (Varview)
Functional Consequence:: 500B_downstream_variant,stop_gained,intron_variant,downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000016.10:g.31130966C>T, NC_000016.9:g.31142287C>T, NM_182958.4:c.1378C>T, NM_182958.3:c.1378C>T, NM_182958.2:c.1378C>T, NP_892003.2:p.Gln460Ter

Select item 148324530317.

rs1483245303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:31134266 (GRCh38)
16:31145587 (GRCh37)
Canonical SPDI:: NC_000016.10:31134265:A:G
Gene:: PRSS8 (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_000016.10:g.31134266A>G, NC_000016.9:g.31145587A>G

Select item 148288941318.

rs1482889413 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:31132056 (GRCh38)
16:31143377 (GRCh37)
Canonical SPDI:: NC_000016.10:31132055:G:A
Gene:: PRSS8 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000016.10:g.31132056G>A, NC_000016.9:g.31143377G>A, NM_002773.5:c.985C>T, NM_002773.4:c.985C>T, NM_002773.3:c.985C>T

Select item 148228653619.

rs1482286536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:31131998 (GRCh38)
16:31143319 (GRCh37)
Canonical SPDI:: NC_000016.10:31131997:G:T
Gene:: PRSS8 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.00014/2 (TOMMO)
HGVS:: NC_000016.10:g.31131998G>T, NC_000016.9:g.31143319G>T, NM_002773.5:c.*11C>A, NM_002773.4:c.*11C>A, NM_002773.3:c.*11C>A

Select item 148189342420.

rs1481893424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:31131027 (GRCh38)
16:31142348 (GRCh37)
Canonical SPDI:: NC_000016.10:31131026:C:T
Gene:: PRSS8 (Varview), KAT8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.31131027C>T, NC_000016.9:g.31142348C>T, NM_182958.4:c.*35C>T, NM_182958.3:c.*35C>T, NM_182958.2:c.*35C>T

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