SNP Links for Gene (Select 8492) - SNP

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Select item 14915444891.

rs1491544489 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TTT [Show Flanks]
Chromosome:: 4:118287145 (GRCh38)
4:119208301 (GRCh37)
Canonical SPDI:: NC_000004.12:118287145:T:TT,NC_000004.12:118287145:T:TTTT
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000184/3 (ALFA)
T=0.000057/8 (GnomAD)
TTT=0.00067/3 (Estonian)
HGVS:: NC_000004.12:g.118287146dup, NC_000004.12:g.118287146_118287147insTTT, NC_000004.11:g.119208301dup, NC_000004.11:g.119208301_119208302insTTT, NG_023350.1:g.70622dup, NG_023350.1:g.70622_70623insAAA

Select item 14915426832.

rs1491542683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 4:118343928 (GRCh38)
4:119265084 (GRCh37)
Canonical SPDI:: NC_000004.12:118343928:A:AGA
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118343929_118343930insGA, NC_000004.11:g.119265084_119265085insGA, NG_023350.1:g.13839_13840insCT

Select item 14915343983.

rs1491534398 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:118282075 (GRCh38)
4:119203231 (GRCh37)
Canonical SPDI:: NC_000004.12:118282075:T:TT
Gene:: PRSS12 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118282076dup, NC_000004.11:g.119203231dup, NG_023350.1:g.75692dup, NM_003619.4:c.2488dup, NM_003619.3:c.2488dup, NP_003610.2:p.Met830fs

Select item 14913442794.

rs1491344279 has merged into rs141285212 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACA>-,CA,CACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 4:118346988 (GRCh38)
4:119268143 (GRCh37)
Canonical SPDI:: NC_000004.12:118346977:CACACACACACACACA:CACACACACA,NC_000004.12:118346977:CACACACACACACACA:CACACACACACA,NC_000004.12:118346977:CACACACACACACACA:CACACACACACACA,NC_000004.12:118346977:CACACACACACACACA:CACACACACACACACACA,NC_000004.12:118346977:CACACACACACACACA:CACACACACACACACACACA
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
-=0.001/5 (1000Genomes)
-=0.00333/2 (NorthernSweden)
HGVS:: NC_000004.12:g.118346978CA[5], NC_000004.12:g.118346978CA[6], NC_000004.12:g.118346978CA[7], NC_000004.12:g.118346978CA[9], NC_000004.12:g.118346978CA[10], NC_000004.11:g.119268133CA[5], NC_000004.11:g.119268133CA[6], NC_000004.11:g.119268133CA[7], NC_000004.11:g.119268133CA[9], NC_000004.11:g.119268133CA[10], NG_023350.1:g.10775TG[5], NG_023350.1:g.10775TG[6], NG_023350.1:g.10775TG[7], NG_023350.1:g.10775TG[9], NG_023350.1:g.10775TG[10]

Select item 14912438315.

rs1491243831 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 4:118354818 (GRCh38)
4:119275973 (GRCh37)
Canonical SPDI:: NC_000004.12:118354817:GGGG:GGG,NC_000004.12:118354817:GGGG:GGGGG
Gene:: PRSS12 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118354821del, NC_000004.12:g.118354821dup, NC_000004.11:g.119275976del, NC_000004.11:g.119275976dup, NG_023350.1:g.2950del, NG_023350.1:g.2950dup

Select item 14912103186.

rs1491210318 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:118287145 (GRCh38)
4:119208300 (GRCh37)
Canonical SPDI:: NC_000004.12:118287144:AT:
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.118287145_118287146del, NC_000004.11:g.119208300_119208301del, NG_023350.1:g.70622_70623del

Select item 14909440207.

rs1490944020 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:118299780 (GRCh38)
4:119220935 (GRCh37)
Canonical SPDI:: NC_000004.12:118299779:A:T
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.118299780A>T, NC_000004.11:g.119220935A>T, NG_023350.1:g.57988T>A

Select item 14909354808.

rs1490935480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:118300711 (GRCh38)
4:119221866 (GRCh37)
Canonical SPDI:: NC_000004.12:118300709:AAA:A
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.118300711_118300712del, NC_000004.11:g.119221866_119221867del, NG_023350.1:g.57057_57058del, XM_011532387.3:c.*3078_*3079del

Select item 14909113839.

rs1490911383 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:118292244 (GRCh38)
4:119213399 (GRCh37)
Canonical SPDI:: NC_000004.12:118292243:G:A
Gene:: PRSS12 (Varview), LOC124900766 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_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_000004.12:g.118292244G>A, NC_000004.11:g.119213399G>A, NG_023350.1:g.65524C>T

Select item 149086910010.

rs1490869100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:118342881 (GRCh38)
4:119264036 (GRCh37)
Canonical SPDI:: NC_000004.12:118342880:T:C
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.118342881T>C, NC_000004.11:g.119264036T>C, NG_023350.1:g.14887A>G

Select item 149084321911.

rs1490843219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 4:118343846 (GRCh38)
4:119265001 (GRCh37)
Canonical SPDI:: NC_000004.12:118343845:C:A,NC_000004.12:118343845:C:G
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000071/1 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.000684/2 (KOREAN)
HGVS:: NC_000004.12:g.118343846C>A, NC_000004.12:g.118343846C>G, NC_000004.11:g.119265001C>A, NC_000004.11:g.119265001C>G, NG_023350.1:g.13922G>T, NG_023350.1:g.13922G>C

Select item 149081734812.

rs1490817348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 4:118308918 (GRCh38)
4:119230073 (GRCh37)
Canonical SPDI:: NC_000004.12:118308917:G:C,NC_000004.12:118308917:G:T
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.118308918G>C, NC_000004.12:g.118308918G>T, NC_000004.11:g.119230073G>C, NC_000004.11:g.119230073G>T, NG_023350.1:g.48850C>G, NG_023350.1:g.48850C>A

Select item 149073165713.

rs1490731657 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:118313767 (GRCh38)
4:119234922 (GRCh37)
Canonical SPDI:: NC_000004.12:118313766:C:G
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118313767C>G, NC_000004.11:g.119234922C>G, NG_023350.1:g.44001G>C

Select item 149072126214.

rs1490721262 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 4:118351765 (GRCh38)
4:119272920 (GRCh37)
Canonical SPDI:: NC_000004.12:118351764:AAA:AA
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000004.12:g.118351767del, NC_000004.11:g.119272922del, NG_023350.1:g.6003del

Select item 149071238815.

rs1490712388 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118293675 (GRCh38)
4:119214830 (GRCh37)
Canonical SPDI:: NC_000004.12:118293674:A:G
Gene:: PRSS12 (Varview), LOC124900766 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_downstream_transcript_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_000004.12:g.118293675A>G, NC_000004.11:g.119214830A>G, NG_023350.1:g.64093T>C

Select item 149071020216.

rs1490710202 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118324109 (GRCh38)
4:119245264 (GRCh37)
Canonical SPDI:: NC_000004.12:118324108:A:G
Gene:: PRSS12 (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_000004.12:g.118324109A>G, NC_000004.11:g.119245264A>G, NG_023350.1:g.33659T>C

Select item 149068831617.

rs1490688316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:118352980 (GRCh38)
4:119274136 (GRCh37)
Canonical SPDI:: NC_000004.12:118352980:AAAA:AAAAA
Gene:: PRSS12 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000004.12:g.118352984dup, NC_000004.11:g.119274139dup, NG_023350.1:g.4787dup, NM_003619.4:c.-261dup, XM_005263318.5:c.-261dup, XM_005263318.4:c.-261dup, XM_011532387.3:c.-261dup, XM_011532387.2:c.-261dup

Select item 149066839518.

rs1490668395 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:118310620 (GRCh38)
4:119231775 (GRCh37)
Canonical SPDI:: NC_000004.12:118310619:A:G
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.118310620A>G, NC_000004.11:g.119231775A>G, NG_023350.1:g.47148T>C

Select item 149066412819.

rs1490664128 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:118332598 (GRCh38)
4:119253753 (GRCh37)
Canonical SPDI:: NC_000004.12:118332597:C:G,NC_000004.12:118332597:C:T
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000004.12:g.118332598C>G, NC_000004.12:g.118332598C>T, NC_000004.11:g.119253753C>G, NC_000004.11:g.119253753C>T, NG_023350.1:g.25170G>C, NG_023350.1:g.25170G>A

Select item 149065233420.

rs1490652334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:118309388 (GRCh38)
4:119230543 (GRCh37)
Canonical SPDI:: NC_000004.12:118309387:T:C
Gene:: PRSS12 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.118309388T>C, NC_000004.11:g.119230543T>C, NG_023350.1:g.48380A>G

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