SNP Links for Nucleotide (Select 308193324) - SNP

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:33750830 (GRCh38)
9:33750828 (GRCh37)
Canonical SPDI:: NC_000009.12:33750829:T:C
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000248/4 (TOMMO)
C=0.001714/5 (KOREAN)
HGVS:: NC_000009.12:g.33750830T>C, NC_000009.11:g.33750828T>C, NG_001337.2:g.144370T>C, NG_029635.1:g.5365T>C, NM_001197098.1:c.-4T>C

Select item 145352130815.

rs1453521308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:33797972 (GRCh38)
9:33797970 (GRCh37)
Canonical SPDI:: NC_000009.12:33797971:C:A,NC_000009.12:33797971:C:T
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,stop_gained,missense_variant
HGVS:: NC_000009.12:g.33797972C>A, NC_000009.12:g.33797972C>T, NC_000009.11:g.33797970C>A, NC_000009.11:g.33797970C>T, NG_001337.2:g.191512C>A, NG_001337.2:g.191512C>T, NG_029635.1:g.52507C>A, NG_029635.1:g.52507C>T, NM_002771.4:c.344C>A, NM_002771.4:c.344C>T, NM_002771.3:c.344C>A, NM_002771.3:c.344C>T, NM_007343.4:c.20C>A, NM_007343.4:c.20C>T, NM_007343.3:c.515C>A, NM_007343.3:c.515C>T, NM_001197097.3:c.386C>A, NM_001197097.3:c.386C>T, NM_001197097.2:c.386C>A, NM_001197097.2:c.386C>T, NM_001197098.1:c.323C>A, NM_001197098.1:c.323C>T, XM_011517965.2:c.20C>A, XM_011517965.2:c.20C>T, XM_011517965.1:c.602C>A, XM_011517965.1:c.602C>T, XM_047423602.1:c.344C>A, XM_047423602.1:c.344C>T, NP_002762.3:p.Ser115Ter, NP_002762.3:p.Ser115Leu, NP_031369.3:p.Ser7Ter, NP_031369.3:p.Ser7Leu, NP_001184026.3:p.Ser129Ter, NP_001184026.3:p.Ser129Leu, NP_001184027.1:p.Ser108Ter, NP_001184027.1:p.Ser108Leu, XP_011516267.2:p.Ser7Ter, XP_011516267.2:p.Ser7Leu, XP_047279558.1:p.Ser115Ter, XP_047279558.1:p.Ser115Leu

Select item 145030073516.

rs1450300735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:33797847 (GRCh38)
9:33797845 (GRCh37)
Canonical SPDI:: NC_000009.12:33797846:G:A
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.33797847G>A, NC_000009.11:g.33797845G>A, NG_001337.2:g.191387G>A, NG_029635.1:g.52382G>A, NM_002771.4:c.219G>A, NM_002771.3:c.219G>A, NM_007343.4:c.-106G>A, NM_007343.3:c.390G>A, NM_001197097.3:c.261G>A, NM_001197097.2:c.261G>A, NM_001197098.1:c.198G>A, XM_011517965.2:c.-106G>A, XM_011517965.1:c.477G>A, XM_047423602.1:c.219G>A

Select item 144903431917.

rs1449034319 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:33797921 (GRCh38)
9:33797919 (GRCh37)
Canonical SPDI:: NC_000009.12:33797920:A:T
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,5_prime_UTR_variant
HGVS:: NC_000009.12:g.33797921A>T, NC_000009.11:g.33797919A>T, NG_001337.2:g.191461A>T, NG_029635.1:g.52456A>T, NM_002771.4:c.293A>T, NM_002771.3:c.293A>T, NM_007343.4:c.-32A>T, NM_007343.3:c.464A>T, NM_001197097.3:c.335A>T, NM_001197097.2:c.335A>T, NM_001197098.1:c.272A>T, XM_011517965.2:c.-32A>T, XM_011517965.1:c.551A>T, XM_047423602.1:c.293A>T, NP_002762.3:p.Lys98Ile, NP_001184026.3:p.Lys112Ile, NP_001184027.1:p.Lys91Ile, XP_047279558.1:p.Lys98Ile

Select item 144680349018.

rs1446803490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:33798564 (GRCh38)
9:33798562 (GRCh37)
Canonical SPDI:: NC_000009.12:33798563:A:G
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,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_000009.12:g.33798564A>G, NC_000009.11:g.33798562A>G, NG_001337.2:g.192104A>G, NG_029635.1:g.53099A>G, NM_002771.4:c.533A>G, NM_002771.3:c.533A>G, NM_007343.4:c.209A>G, NM_007343.3:c.704A>G, NM_001197097.3:c.575A>G, NM_001197097.2:c.575A>G, NM_001197098.1:c.512A>G, XM_011517965.2:c.209A>G, XM_011517965.1:c.791A>G, XM_047423602.1:c.533A>G, NP_002762.3:p.Lys178Arg, NP_031369.3:p.Lys70Arg, NP_001184026.3:p.Lys192Arg, NP_001184027.1:p.Lys171Arg, XP_011516267.2:p.Lys70Arg, XP_047279558.1:p.Lys178Arg

Select item 144642711019.

rs1446427110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:33798013 (GRCh38)
9:33798011 (GRCh37)
Canonical SPDI:: NC_000009.12:33798012:C:T
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000036/5 (GnomAD)
HGVS:: NC_000009.12:g.33798013C>T, NC_000009.11:g.33798011C>T, NG_001337.2:g.191553C>T, NG_029635.1:g.52548C>T, NM_002771.4:c.385C>T, NM_002771.3:c.385C>T, NM_007343.4:c.61C>T, NM_007343.3:c.556C>T, NM_001197097.3:c.427C>T, NM_001197097.2:c.427C>T, NM_001197098.1:c.364C>T, XM_011517965.2:c.61C>T, XM_011517965.1:c.643C>T, XM_047423602.1:c.385C>T, NP_002762.3:p.Pro129Ser, NP_031369.3:p.Pro21Ser, NP_001184026.3:p.Pro143Ser, NP_001184027.1:p.Pro122Ser, XP_011516267.2:p.Pro21Ser, XP_047279558.1:p.Pro129Ser

Select item 144582100720.

rs1445821007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:33798571 (GRCh38)
9:33798569 (GRCh37)
Canonical SPDI:: NC_000009.12:33798570:C:G,NC_000009.12:33798570:C:T
Gene:: PRSS3 (Varview), UBE2R2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.33798571C>G, NC_000009.12:g.33798571C>T, NC_000009.11:g.33798569C>G, NC_000009.11:g.33798569C>T, NG_001337.2:g.192111C>G, NG_001337.2:g.192111C>T, NG_029635.1:g.53106C>G, NG_029635.1:g.53106C>T, NM_002771.4:c.540C>G, NM_002771.4:c.540C>T, NM_002771.3:c.540C>G, NM_002771.3:c.540C>T, NM_007343.4:c.216C>G, NM_007343.4:c.216C>T, NM_007343.3:c.711C>G, NM_007343.3:c.711C>T, NM_001197097.3:c.582C>G, NM_001197097.3:c.582C>T, NM_001197097.2:c.582C>G, NM_001197097.2:c.582C>T, NM_001197098.1:c.519C>G, NM_001197098.1:c.519C>T, XM_011517965.2:c.216C>G, XM_011517965.2:c.216C>T, XM_011517965.1:c.798C>G, XM_011517965.1:c.798C>T, XM_047423602.1:c.540C>G, XM_047423602.1:c.540C>T

dbSNP