SNP Links for Gene (Select 5645) - SNP

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Select item 14907411501.

rs1490741150 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142770704 (GRCh38)
7:142478556 (GRCh37)
Canonical SPDI:: NC_000007.14:142770703:T:C
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.142770704T>C, NC_000007.13:g.142478556T>C, NG_008322.2:g.4762T>C, NG_001333.2:g.624748T>C, NT_187562.1:g.793677T>C, NW_003571040.1:g.973748T>C

Select item 14905784942.

rs1490578494 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142770944 (GRCh38)
7:142478801 (GRCh37)
Canonical SPDI:: NC_000007.14:142770943:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00003/8 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000007.14:g.142770944G>A, NC_000007.13:g.142478801G>A, NG_008322.2:g.5002G>A, NG_001333.2:g.624988G>A, NT_187562.1:g.793917G>A, NW_003571040.1:g.973988G>A, NM_002770.3:c.-39G>A, NM_001303414.1:c.-39G>A, NR_130149.1:n.2G>A

Select item 14903755473.

rs1490375547 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142774473 (GRCh38)
7:142482329 (GRCh37)
Canonical SPDI:: NC_000007.14:142774472:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000007.14:g.142774473G>A, NC_000007.13:g.142482329G>A, NG_008322.2:g.8531G>A, NM_002770.4:c.709G>A, NM_002770.3:c.709G>A, NM_002770.2:c.709G>A, NM_001303414.2:c.751G>A, NM_001303414.1:c.751G>A, NR_130149.2:n.648G>A, NR_130149.1:n.675G>A, NG_001333.2:g.628519G>A, NT_187562.1:g.797446G>A, NW_003571040.1:g.977517G>A, NP_002761.1:p.Asp237Asn, NP_001290343.1:p.Asp251Asn

Select item 14903409474.

rs1490340947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:142774174 (GRCh38)
7:142482034 (GRCh37)
Canonical SPDI:: NC_000007.14:142774173:A:T
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
HGVS:: NC_000007.14:g.142774174A>T, NC_000007.13:g.142482034A>T, NG_008322.2:g.8232A>T, NG_001333.2:g.628220A>T, NT_187562.1:g.797147A>T, NW_003571040.1:g.977218A>T

Select item 14896176815.

rs1489617681 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142770646 (GRCh38)
7:142478498 (GRCh37)
Canonical SPDI:: NC_000007.14:142770645:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00016/1 (1000Genomes)
HGVS:: NC_000007.14:g.142770646G>A, NC_000007.13:g.142478498G>A, NG_008322.2:g.4704G>A, NG_001333.2:g.624690G>A, NT_187562.1:g.793619G>A, NW_003571040.1:g.973690G>A

Select item 14895079726.

rs1489507972 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:142772963 (GRCh38)
7:142480823 (GRCh37)
Canonical SPDI:: NC_000007.14:142772962:C:A
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.142772963C>A, NC_000007.13:g.142480823C>A, NG_008322.2:g.7021C>A, NG_001333.2:g.627009C>A, NT_187562.1:g.795936C>A, NW_003571040.1:g.976007C>A

Select item 14894589397.

rs1489458939 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 7:142773406 (GRCh38)
7:142481267 (GRCh37)
Canonical SPDI:: NC_000007.14:142773405:CC:C
Gene:: PRSS2 (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000007.14:g.142773407del, NC_000007.13:g.142481268del, NG_008322.2:g.7465del, NM_002770.4:c.342del, NM_002770.3:c.342del, NM_002770.2:c.342del, NM_001303414.2:c.384del, NM_001303414.1:c.384del, NR_130149.2:n.281del, NR_130149.1:n.308del, NG_001333.2:g.627453del, NT_187562.1:g.796380del, NW_003571040.1:g.976451del, NP_002761.1:p.Ser115fs, NP_001290343.1:p.Ser129fs

Select item 14894089448.

rs1489408944 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 7:142769285 (GRCh38)
7:142477129 (GRCh37)
Canonical SPDI:: NC_000007.14:142769284:C:
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.142769285del, NC_000007.13:g.142477129del, NG_008322.2:g.3343del, NG_001333.2:g.623329del, NT_187562.1:g.792258del, NW_003571040.1:g.972329del

Select item 14889801199.

rs1488980119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:142769023 (GRCh38)
7:142476868 (GRCh37)
Canonical SPDI:: NC_000007.14:142769022:A:T
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.08085/959 (ALFA)
T=0.0026/248 (GnomAD)
T=0.02155/609 (TOMMO)
HGVS:: NC_000007.14:g.142769023A>T, NC_000007.13:g.142476868T>A, NG_008322.2:g.3081A>T, NG_001333.2:g.623067A>T, NT_187562.1:g.791996A>T, NW_003571040.1:g.972067A>T

Select item 148852069210.

rs1488520692 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142774997 (GRCh38)
7:142482856 (GRCh37)
Canonical SPDI:: NC_000007.14:142774996:C:T
Gene:: PRSS2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.142774997C>T, NC_000007.13:g.142482856C>T, NG_008322.2:g.9055C>T, NG_001333.2:g.629043C>T, NT_187562.1:g.797970C>T, NW_003571040.1:g.978041C>T

Select item 148829147611.

rs1488291476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:142769360 (GRCh38)
7:142477204 (GRCh37)
Canonical SPDI:: NC_000007.14:142769359:C:T
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.001637/23 (ALFA)
T=0.002498/16 (1000Genomes)
T=0.002629/368 (GnomAD)
T=0.002667/706 (TOPMED)
HGVS:: NC_000007.14:g.142769360C>T, NC_000007.13:g.142477204C>T, NG_008322.2:g.3418C>T, NG_001333.2:g.623404C>T, NT_187562.1:g.792333T>C, NW_003571040.1:g.972404T>C

Select item 148827402912.

rs1488274029 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142769078 (GRCh38)
7:142476923 (GRCh37)
Canonical SPDI:: NC_000007.14:142769077:T:C
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_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.142769078T>C, NC_000007.13:g.142476923T>C, NG_008322.2:g.3136T>C, NG_001333.2:g.623122T>C, NT_187562.1:g.792051T>C, NW_003571040.1:g.972122T>C

Select item 148812202213.

rs1488122022 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142770450 (GRCh38)
7:142478306 (GRCh37)
Canonical SPDI:: NC_000007.14:142770449:T:C
Gene:: PRSS2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000142/2 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.142770450T>C, NC_000007.13:g.142478306T>C, NG_008322.2:g.4508T>C, NG_001333.2:g.624494T>C, NT_187562.1:g.793423T>C, NW_003571040.1:g.973494T>C

Select item 148789855214.

rs1487898552 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142773527 (GRCh38)
7:142481388 (GRCh37)
Canonical SPDI:: NC_000007.14:142773526:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.142773527G>A, NC_000007.13:g.142481388G>A, NG_008322.2:g.7585G>A, NG_001333.2:g.627573G>A, NT_187562.1:g.796500G>A, NW_003571040.1:g.976571G>A

Select item 148787907515.

rs1487879075 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 7:142773176 (GRCh38)
7:142481037 (GRCh37)
Canonical SPDI:: NC_000007.14:142773175:A:C,NC_000007.14:142773175:A:G
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142773176A>C, NC_000007.14:g.142773176A>G, NC_000007.13:g.142481037A>C, NC_000007.13:g.142481037A>G, NG_008322.2:g.7234A>C, NG_008322.2:g.7234A>G, NG_001333.2:g.627222A>C, NG_001333.2:g.627222A>G, NT_187562.1:g.796149A>C, NT_187562.1:g.796149A>G, NW_003571040.1:g.976220A>C, NW_003571040.1:g.976220A>G

Select item 148782585816.

rs1487825858 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:142773579 (GRCh38)
7:142481441 (GRCh37)
Canonical SPDI:: NC_000007.14:142773578:T:C
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.2073/2459 (ALFA)
C=0.22903/6472 (TOMMO)
C=0.35962/2303 (1000Genomes)
HGVS:: NC_000007.14:g.142773579T>C, NC_000007.13:g.142481441T>C, NG_008322.2:g.7637T>C, NG_001333.2:g.627625T>C, NT_187562.1:g.796552T>C, NW_003571040.1:g.976623T>C

Select item 148735533017.

rs1487355330 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:142774241 (GRCh38)
7:142482101 (GRCh37)
Canonical SPDI:: NC_000007.14:142774240:AA:A
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.142774242del, NC_000007.13:g.142482102del, NG_008322.2:g.8300del, NG_001333.2:g.628288del, NT_187562.1:g.797215del, NW_003571040.1:g.977286del

Select item 148628393718.

rs1486283937 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142772663 (GRCh38)
7:142480521 (GRCh37)
Canonical SPDI:: NC_000007.14:142772662:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.18682/2216 (ALFA)
A=0.00255/72 (TOMMO)
A=0.01086/513 (GnomAD)
A=0.0114/73 (1000Genomes)
HGVS:: NC_000007.14:g.142772663G>A, NC_000007.13:g.142480521A>G, NG_008322.2:g.6721G>A, NG_001333.2:g.626709G>A, NT_187562.1:g.795636G>A, NW_003571040.1:g.975707G>A

Select item 148623766419.

rs1486237664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:142772461 (GRCh38)
7:142480320 (GRCh37)
Canonical SPDI:: NC_000007.14:142772460:G:A
Gene:: PRSS2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.142772461G>A, NC_000007.13:g.142480320G>A, NG_008322.2:g.6519G>A, NG_001333.2:g.626507G>A, NT_187562.1:g.795434G>A, NW_003571040.1:g.975505G>A