SNP Links for Protein (Select 530386899) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:141837622 (GRCh38)
7:141537422 (GRCh37)
Canonical SPDI:: NC_000007.14:141837621:A:G
Gene:: PRSS37 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.141837622A>G, NC_000007.13:g.141537422A>G, XM_005249947.4:c.459T>C, XM_005249947.3:c.459T>C, XM_005249947.2:c.459T>C, XM_005249947.1:c.459T>C

Select item 144711441414.

rs1447114414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:141838083 (GRCh38)
7:141537883 (GRCh37)
Canonical SPDI:: NC_000007.14:141838082:C:G,NC_000007.14:141838082:C:T
Gene:: PRSS37 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000007.14:g.141838083C>G, NC_000007.14:g.141838083C>T, NC_000007.13:g.141537883C>G, NC_000007.13:g.141537883C>T, XM_005249947.4:c.207G>C, XM_005249947.4:c.207G>A, XM_005249947.3:c.207G>C, XM_005249947.3:c.207G>A, XM_005249947.2:c.207G>C, XM_005249947.2:c.207G>A, XM_005249947.1:c.207G>C, XM_005249947.1:c.207G>A, NM_001008270.3:c.207G>C, NM_001008270.3:c.207G>A, NM_001008270.2:c.207G>C, NM_001008270.2:c.207G>A, NM_001171951.2:c.207G>C, NM_001171951.2:c.207G>A, NM_001171951.1:c.207G>C, NM_001171951.1:c.207G>A, XM_047419883.1:c.18G>C, XM_047419883.1:c.18G>A, NM_001370403.1:c.207G>C, NM_001370403.1:c.207G>A, XM_047419884.1:c.18G>C, XM_047419884.1:c.18G>A, XP_005250004.1:p.Lys69Asn, NP_001008271.2:p.Lys69Asn, NP_001165422.1:p.Lys69Asn, XP_047275839.1:p.Lys6Asn, NP_001357332.1:p.Lys69Asn, XP_047275840.1:p.Lys6Asn

Select item 144488971915.

rs1444889719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:141837577 (GRCh38)
7:141537377 (GRCh37)
Canonical SPDI:: NC_000007.14:141837576:G:A
Gene:: PRSS37 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000037/5 (GnomAD_exomes)
HGVS:: NC_000007.14:g.141837577G>A, NC_000007.13:g.141537377G>A, XM_005249947.4:c.504C>T, XM_005249947.3:c.504C>T, XM_005249947.2:c.504C>T, XM_005249947.1:c.504C>T

Select item 144020891116.

rs1440208911 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:141839394 (GRCh38)
7:141539194 (GRCh37)
Canonical SPDI:: NC_000007.14:141839393:A:T
Gene:: PRSS37 (Varview)
Functional Consequence:: 5_prime_UTR_variant,stop_gained,genic_upstream_transcript_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.141839394A>T, NC_000007.13:g.141539194A>T, XM_005249947.4:c.120T>A, XM_005249947.3:c.120T>A, XM_005249947.2:c.120T>A, XM_005249947.1:c.120T>A, NM_001008270.3:c.120T>A, NM_001008270.2:c.120T>A, NM_001171951.2:c.120T>A, NM_001171951.1:c.120T>A, XM_047419883.1:c.-70T>A, NM_001370403.1:c.120T>A, XP_005250004.1:p.Cys40Ter, NP_001008271.2:p.Cys40Ter, NP_001165422.1:p.Cys40Ter, NP_001357332.1:p.Cys40Ter

Select item 143700392317.

rs1437003923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:141839407 (GRCh38)
7:141539207 (GRCh37)
Canonical SPDI:: NC_000007.14:141839406:T:A
Gene:: PRSS37 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.141839407T>A, NC_000007.13:g.141539207T>A, XM_005249947.4:c.107A>T, XM_005249947.3:c.107A>T, XM_005249947.2:c.107A>T, XM_005249947.1:c.107A>T, NM_001008270.3:c.107A>T, NM_001008270.2:c.107A>T, NM_001171951.2:c.107A>T, NM_001171951.1:c.107A>T, XM_047419883.1:c.-83A>T, NM_001370403.1:c.107A>T, XP_005250004.1:p.His36Leu, NP_001008271.2:p.His36Leu, NP_001165422.1:p.His36Leu, NP_001357332.1:p.His36Leu

Select item 143098155918.

rs1430981559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:141837216 (GRCh38)
7:141537016 (GRCh37)
Canonical SPDI:: NC_000007.14:141837215:C:T
Gene:: PRSS37 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.141837216C>T, NC_000007.13:g.141537016C>T, XM_005249947.4:c.553G>A, XM_005249947.3:c.553G>A, XM_005249947.2:c.553G>A, XM_005249947.1:c.553G>A, NM_001008270.3:c.463G>A, NM_001008270.2:c.463G>A, NM_001171951.2:c.460G>A, NM_001171951.1:c.460G>A, XM_047419883.1:c.274G>A, NM_001370403.1:c.463G>A, XM_047419884.1:c.274G>A, XP_005250004.1:p.Ala185Thr, NP_001008271.2:p.Ala155Thr, NP_001165422.1:p.Ala154Thr, XP_047275839.1:p.Ala92Thr, NP_001357332.1:p.Ala155Thr, XP_047275840.1:p.Ala92Thr

Select item 140631048019.

rs1406310480 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:141841017 (GRCh38)
7:141540817 (GRCh37)
Canonical SPDI:: NC_000007.14:141841016:A:G,NC_000007.14:141841016:A:T
Gene:: PRSS37 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.141841017A>G, NC_000007.14:g.141841017A>T, NC_000007.13:g.141540817A>G, NC_000007.13:g.141540817A>T, XM_005249947.4:c.33T>C, XM_005249947.4:c.33T>A, XM_005249947.3:c.33T>C, XM_005249947.3:c.33T>A, XM_005249947.2:c.33T>C, XM_005249947.2:c.33T>A, XM_005249947.1:c.33T>C, XM_005249947.1:c.33T>A, NM_001008270.3:c.33T>C, NM_001008270.3:c.33T>A, NM_001008270.2:c.33T>C, NM_001008270.2:c.33T>A, NM_001171951.2:c.33T>C, NM_001171951.2:c.33T>A, NM_001171951.1:c.33T>C, NM_001171951.1:c.33T>A, NM_001370403.1:c.33T>C, NM_001370403.1:c.33T>A

Select item 140511343720.

rs1405113437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 7:141837114 (GRCh38)
7:141536914 (GRCh37)
Canonical SPDI:: NC_000007.14:141837113:C:A,NC_000007.14:141837113:C:G
Gene:: PRSS37 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000212/4 (TOMMO)
HGVS:: NC_000007.14:g.141837114C>A, NC_000007.14:g.141837114C>G, NC_000007.13:g.141536914C>A, NC_000007.13:g.141536914C>G, XM_005249947.4:c.655G>T, XM_005249947.4:c.655G>C, XM_005249947.3:c.655G>T, XM_005249947.3:c.655G>C, XM_005249947.2:c.655G>T, XM_005249947.2:c.655G>C, XM_005249947.1:c.655G>T, XM_005249947.1:c.655G>C, NM_001008270.3:c.565G>T, NM_001008270.3:c.565G>C, NM_001008270.2:c.565G>T, NM_001008270.2:c.565G>C, NM_001171951.2:c.562G>T, NM_001171951.2:c.562G>C, NM_001171951.1:c.562G>T, NM_001171951.1:c.562G>C, XM_047419883.1:c.376G>T, XM_047419883.1:c.376G>C, NM_001370403.1:c.565G>T, NM_001370403.1:c.565G>C, XM_047419884.1:c.376G>T, XM_047419884.1:c.376G>C, XP_005250004.1:p.Gly219Trp, XP_005250004.1:p.Gly219Arg, NP_001008271.2:p.Gly189Trp, NP_001008271.2:p.Gly189Arg, NP_001165422.1:p.Gly188Trp, NP_001165422.1:p.Gly188Arg, XP_047275839.1:p.Gly126Trp, XP_047275839.1:p.Gly126Arg, NP_001357332.1:p.Gly189Trp, NP_001357332.1:p.Gly189Arg, XP_047275840.1:p.Gly126Trp, XP_047275840.1:p.Gly126Arg

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