SNP Links for Protein (Select 209180418) - SNP

Links from Protein

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Select item 14900656161.

rs1490065616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22289906 (GRCh38)
8:22147419 (GRCh37)
Canonical SPDI:: NC_000008.11:22289905:C:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22289906C>T, NC_000008.10:g.22147419C>T, NM_018068.5:c.1046C>T, NM_018068.4:c.1046C>T, NM_018068.3:c.1046C>T, XM_005273551.5:c.1046C>T, XM_005273551.4:c.1046C>T, XM_005273551.3:c.1046C>T, XM_005273551.2:c.1046C>T, XM_005273551.1:c.1046C>T, NM_001135721.3:c.1046C>T, NM_001135721.2:c.1046C>T, NM_001135721.1:c.1046C>T, NM_001330480.2:c.1046C>T, NM_001330480.1:c.1046C>T, XM_047421924.1:c.1046C>T, XM_047421925.1:c.1046C>T, NP_060538.2:p.Ala349Val, XP_005273608.1:p.Ala349Val, NP_001129193.1:p.Ala349Val, NP_001317409.1:p.Ala349Val, XP_047277880.1:p.Ala349Val, XP_047277881.1:p.Ala349Val

Select item 14900586502.

rs1490058650 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22354375 (GRCh38)
8:22211888 (GRCh37)
Canonical SPDI:: NC_000008.11:22354374:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000008.11:g.22354375A>G, NC_000008.10:g.22211888A>G, NM_018068.5:c.2762A>G, NM_018068.4:c.2762A>G, NM_018068.3:c.2762A>G, NM_001135721.3:c.2762A>G, NM_001135721.2:c.2762A>G, NM_001135721.1:c.2762A>G, NP_060538.2:p.Gln921Arg, NP_001129193.1:p.Gln921Arg

Select item 14877479803.

rs1487747980 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22281460 (GRCh38)
8:22138973 (GRCh37)
Canonical SPDI:: NC_000008.11:22281459:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22281460A>G, NC_000008.10:g.22138973A>G, NM_018068.5:c.370A>G, NM_018068.4:c.370A>G, NM_018068.3:c.370A>G, XM_005273551.5:c.370A>G, XM_005273551.4:c.370A>G, XM_005273551.3:c.370A>G, XM_005273551.2:c.370A>G, XM_005273551.1:c.370A>G, NM_001135721.3:c.370A>G, NM_001135721.2:c.370A>G, NM_001135721.1:c.370A>G, NM_001330480.2:c.370A>G, NM_001330480.1:c.370A>G, XM_047421924.1:c.370A>G, XM_047421925.1:c.370A>G, NP_060538.2:p.Lys124Glu, XP_005273608.1:p.Lys124Glu, NP_001129193.1:p.Lys124Glu, NP_001317409.1:p.Lys124Glu, XP_047277880.1:p.Lys124Glu, XP_047277881.1:p.Lys124Glu

Select item 14870714204.

rs1487071420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22304816 (GRCh38)
8:22162329 (GRCh37)
Canonical SPDI:: NC_000008.11:22304815:A:C
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.0153/28 (Korea1K)
HGVS:: NC_000008.11:g.22304816A>C, NC_000008.10:g.22162329A>C, NM_018068.5:c.1403A>C, NM_018068.4:c.1403A>C, NM_018068.3:c.1403A>C, XM_005273551.5:c.1403A>C, XM_005273551.4:c.1403A>C, XM_005273551.3:c.1403A>C, XM_005273551.2:c.1403A>C, XM_005273551.1:c.1403A>C, NM_001135721.3:c.1403A>C, NM_001135721.2:c.1403A>C, NM_001135721.1:c.1403A>C, NM_001330480.2:c.1403A>C, NM_001330480.1:c.1403A>C, XM_047421924.1:c.1403A>C, XM_047421925.1:c.1403A>C, NP_060538.2:p.Asp468Ala, XP_005273608.1:p.Asp468Ala, NP_001129193.1:p.Asp468Ala, NP_001317409.1:p.Asp468Ala, XP_047277880.1:p.Asp468Ala, XP_047277881.1:p.Asp468Ala

Select item 14870213055.

rs1487021305 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22310038 (GRCh38)
8:22167551 (GRCh37)
Canonical SPDI:: NC_000008.11:22310037:G:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22310038G>T, NC_000008.10:g.22167551G>T, NM_018068.5:c.1764G>T, NM_018068.4:c.1764G>T, NM_018068.3:c.1764G>T, XM_005273551.5:c.1764G>T, XM_005273551.4:c.1764G>T, XM_005273551.3:c.1764G>T, XM_005273551.2:c.1764G>T, XM_005273551.1:c.1764G>T, NM_001135721.3:c.1764G>T, NM_001135721.2:c.1764G>T, NM_001135721.1:c.1764G>T, NM_001330480.2:c.1764G>T, NM_001330480.1:c.1764G>T, XM_047421924.1:c.1764G>T, XM_047421925.1:c.1764G>T, NP_060538.2:p.Trp588Cys, XP_005273608.1:p.Trp588Cys, NP_001129193.1:p.Trp588Cys, NP_001317409.1:p.Trp588Cys, XP_047277880.1:p.Trp588Cys, XP_047277881.1:p.Trp588Cys

Select item 14863103636.

rs1486310363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22318203 (GRCh38)
8:22175716 (GRCh37)
Canonical SPDI:: NC_000008.11:22318202:C:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22318203C>G, NC_000008.10:g.22175716C>G, NM_018068.5:c.2331C>G, NM_018068.4:c.2331C>G, NM_018068.3:c.2331C>G, XM_005273551.5:c.2331C>G, XM_005273551.4:c.2331C>G, XM_005273551.3:c.2331C>G, XM_005273551.2:c.2331C>G, XM_005273551.1:c.2331C>G, NM_001135721.3:c.2331C>G, NM_001135721.2:c.2331C>G, NM_001135721.1:c.2331C>G, NM_001330480.2:c.2331C>G, NM_001330480.1:c.2331C>G, XM_047421924.1:c.2331C>G, XM_047421925.1:c.2331C>G, NP_060538.2:p.Phe777Leu, XP_005273608.1:p.Phe777Leu, NP_001129193.1:p.Phe777Leu, NP_001317409.1:p.Phe777Leu, XP_047277880.1:p.Phe777Leu, XP_047277881.1:p.Phe777Leu

Select item 14852318927.

rs1485231892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22279430 (GRCh38)
8:22136943 (GRCh37)
Canonical SPDI:: NC_000008.11:22279429:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.22279430A>G, NC_000008.10:g.22136943A>G, NM_018068.5:c.44A>G, NM_018068.4:c.44A>G, NM_018068.3:c.44A>G, XM_005273551.5:c.44A>G, XM_005273551.4:c.44A>G, XM_005273551.3:c.44A>G, XM_005273551.2:c.44A>G, XM_005273551.1:c.44A>G, NM_001135721.3:c.44A>G, NM_001135721.2:c.44A>G, NM_001135721.1:c.44A>G, NM_001330480.2:c.44A>G, NM_001330480.1:c.44A>G, XM_047421924.1:c.44A>G, XM_047421925.1:c.44A>G, NP_060538.2:p.His15Arg, XP_005273608.1:p.His15Arg, NP_001129193.1:p.His15Arg, NP_001317409.1:p.His15Arg, XP_047277880.1:p.His15Arg, XP_047277881.1:p.His15Arg

Select item 14833360648.

rs1483336064 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22353025 (GRCh38)
8:22210538 (GRCh37)
Canonical SPDI:: NC_000008.11:22353024:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22353025A>G, NC_000008.10:g.22210538A>G, NM_018068.5:c.2470A>G, NM_018068.4:c.2470A>G, NM_018068.3:c.2470A>G, NM_001135721.3:c.2470A>G, NM_001135721.2:c.2470A>G, NM_001135721.1:c.2470A>G, NM_001330480.2:c.2470A>G, NM_001330480.1:c.2470A>G, XM_047421924.1:c.2470A>G, NP_060538.2:p.Thr824Ala, NP_001129193.1:p.Thr824Ala, NP_001317409.1:p.Thr824Ala, XP_047277880.1:p.Thr824Ala

Select item 14826202589.

rs1482620258 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:22287609 (GRCh38)
8:22145122 (GRCh37)
Canonical SPDI:: NC_000008.11:22287608:T:A
Gene:: PIWIL2 (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)
A=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22287609T>A, NC_000008.10:g.22145122T>A, NM_018068.5:c.825T>A, NM_018068.4:c.825T>A, NM_018068.3:c.825T>A, XM_005273551.5:c.825T>A, XM_005273551.4:c.825T>A, XM_005273551.3:c.825T>A, XM_005273551.2:c.825T>A, XM_005273551.1:c.825T>A, NM_001135721.3:c.825T>A, NM_001135721.2:c.825T>A, NM_001135721.1:c.825T>A, NM_001330480.2:c.825T>A, NM_001330480.1:c.825T>A, XM_047421924.1:c.825T>A, XM_047421925.1:c.825T>A, NP_060538.2:p.Asp275Glu, XP_005273608.1:p.Asp275Glu, NP_001129193.1:p.Asp275Glu, NP_001317409.1:p.Asp275Glu, XP_047277880.1:p.Asp275Glu, XP_047277881.1:p.Asp275Glu

Select item 148193330810.

rs1481933308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22281199 (GRCh38)
8:22138712 (GRCh37)
Canonical SPDI:: NC_000008.11:22281198:T:C
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22281199T>C, NC_000008.10:g.22138712T>C, NM_018068.5:c.278T>C, NM_018068.4:c.278T>C, NM_018068.3:c.278T>C, XM_005273551.5:c.278T>C, XM_005273551.4:c.278T>C, XM_005273551.3:c.278T>C, XM_005273551.2:c.278T>C, XM_005273551.1:c.278T>C, NM_001135721.3:c.278T>C, NM_001135721.2:c.278T>C, NM_001135721.1:c.278T>C, NM_001330480.2:c.278T>C, NM_001330480.1:c.278T>C, XM_047421924.1:c.278T>C, XM_047421925.1:c.278T>C, NP_060538.2:p.Leu93Pro, XP_005273608.1:p.Leu93Pro, NP_001129193.1:p.Leu93Pro, NP_001317409.1:p.Leu93Pro, XP_047277880.1:p.Leu93Pro, XP_047277881.1:p.Leu93Pro

Select item 148140859911.

rs1481408599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22283094 (GRCh38)
8:22140607 (GRCh37)
Canonical SPDI:: NC_000008.11:22283093:T:C
Gene:: PIWIL2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22283094T>C, NC_000008.10:g.22140607T>C, NM_018068.5:c.486T>C, NM_018068.4:c.486T>C, NM_018068.3:c.486T>C, XM_005273551.5:c.486T>C, XM_005273551.4:c.486T>C, XM_005273551.3:c.486T>C, XM_005273551.2:c.486T>C, XM_005273551.1:c.486T>C, NM_001135721.3:c.486T>C, NM_001135721.2:c.486T>C, NM_001135721.1:c.486T>C, NM_001330480.2:c.486T>C, NM_001330480.1:c.486T>C, XM_047421924.1:c.486T>C, XM_047421925.1:c.486T>C

Select item 148131761212.

rs1481317612 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22287562 (GRCh38)
8:22145075 (GRCh37)
Canonical SPDI:: NC_000008.11:22287561:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_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)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22287562A>G, NC_000008.10:g.22145075A>G, NM_018068.5:c.778A>G, NM_018068.4:c.778A>G, NM_018068.3:c.778A>G, XM_005273551.5:c.778A>G, XM_005273551.4:c.778A>G, XM_005273551.3:c.778A>G, XM_005273551.2:c.778A>G, XM_005273551.1:c.778A>G, NM_001135721.3:c.778A>G, NM_001135721.2:c.778A>G, NM_001135721.1:c.778A>G, NM_001330480.2:c.778A>G, NM_001330480.1:c.778A>G, XM_047421924.1:c.778A>G, XM_047421925.1:c.778A>G, NP_060538.2:p.Met260Val, XP_005273608.1:p.Met260Val, NP_001129193.1:p.Met260Val, NP_001317409.1:p.Met260Val, XP_047277880.1:p.Met260Val, XP_047277881.1:p.Met260Val

Select item 147931187513.

rs1479311875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22304049 (GRCh38)
8:22161562 (GRCh37)
Canonical SPDI:: NC_000008.11:22304048:C:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22304049C>T, NC_000008.10:g.22161562C>T, NM_018068.5:c.1210C>T, NM_018068.4:c.1210C>T, NM_018068.3:c.1210C>T, XM_005273551.5:c.1210C>T, XM_005273551.4:c.1210C>T, XM_005273551.3:c.1210C>T, XM_005273551.2:c.1210C>T, XM_005273551.1:c.1210C>T, NM_001135721.3:c.1210C>T, NM_001135721.2:c.1210C>T, NM_001135721.1:c.1210C>T, NM_001330480.2:c.1210C>T, NM_001330480.1:c.1210C>T, XM_047421924.1:c.1210C>T, XM_047421925.1:c.1210C>T, NP_060538.2:p.His404Tyr, XP_005273608.1:p.His404Tyr, NP_001129193.1:p.His404Tyr, NP_001317409.1:p.His404Tyr, XP_047277880.1:p.His404Tyr, XP_047277881.1:p.His404Tyr

Select item 147613852514.

rs1476138525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:22311231 (GRCh38)
8:22168744 (GRCh37)
Canonical SPDI:: NC_000008.11:22311230:C:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: 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)
HGVS:: NC_000008.11:g.22311231C>G, NC_000008.10:g.22168744C>G, NM_018068.5:c.1920C>G, NM_018068.4:c.1920C>G, NM_018068.3:c.1920C>G, XM_005273551.5:c.1920C>G, XM_005273551.4:c.1920C>G, XM_005273551.3:c.1920C>G, XM_005273551.2:c.1920C>G, XM_005273551.1:c.1920C>G, NM_001135721.3:c.1920C>G, NM_001135721.2:c.1920C>G, NM_001135721.1:c.1920C>G, NM_001330480.2:c.1920C>G, NM_001330480.1:c.1920C>G, XM_047421924.1:c.1920C>G, XM_047421925.1:c.1920C>G

Select item 147597268915.

rs1475972689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:22352974 (GRCh38)
8:22210487 (GRCh37)
Canonical SPDI:: NC_000008.11:22352973:C:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22352974C>T, NC_000008.10:g.22210487C>T, NM_018068.5:c.2419C>T, NM_018068.4:c.2419C>T, NM_018068.3:c.2419C>T, NM_001135721.3:c.2419C>T, NM_001135721.2:c.2419C>T, NM_001135721.1:c.2419C>T, NM_001330480.2:c.2419C>T, NM_001330480.1:c.2419C>T, XM_047421924.1:c.2419C>T, NP_060538.2:p.Pro807Ser, NP_001129193.1:p.Pro807Ser, NP_001317409.1:p.Pro807Ser, XP_047277880.1:p.Pro807Ser

Select item 147507916216.

rs1475079162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22304157 (GRCh38)
8:22161670 (GRCh37)
Canonical SPDI:: NC_000008.11:22304156:G:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22304157G>T, NC_000008.10:g.22161670G>T, NM_018068.5:c.1318G>T, NM_018068.4:c.1318G>T, NM_018068.3:c.1318G>T, XM_005273551.5:c.1318G>T, XM_005273551.4:c.1318G>T, XM_005273551.3:c.1318G>T, XM_005273551.2:c.1318G>T, XM_005273551.1:c.1318G>T, NM_001135721.3:c.1318G>T, NM_001135721.2:c.1318G>T, NM_001135721.1:c.1318G>T, NM_001330480.2:c.1318G>T, NM_001330480.1:c.1318G>T, XM_047421924.1:c.1318G>T, XM_047421925.1:c.1318G>T, NP_060538.2:p.Asp440Tyr, XP_005273608.1:p.Asp440Tyr, NP_001129193.1:p.Asp440Tyr, NP_001317409.1:p.Asp440Tyr, XP_047277880.1:p.Asp440Tyr, XP_047277881.1:p.Asp440Tyr

Select item 147495251017.

rs1474952510 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 8:22287629 (GRCh38)
8:22145142 (GRCh37)
Canonical SPDI:: NC_000008.11:22287628:C:G,NC_000008.11:22287628:C:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22287629C>G, NC_000008.11:g.22287629C>T, NC_000008.10:g.22145142C>G, NC_000008.10:g.22145142C>T, NM_018068.5:c.845C>G, NM_018068.5:c.845C>T, NM_018068.4:c.845C>G, NM_018068.4:c.845C>T, NM_018068.3:c.845C>G, NM_018068.3:c.845C>T, XM_005273551.5:c.845C>G, XM_005273551.5:c.845C>T, XM_005273551.4:c.845C>G, XM_005273551.4:c.845C>T, XM_005273551.3:c.845C>G, XM_005273551.3:c.845C>T, XM_005273551.2:c.845C>G, XM_005273551.2:c.845C>T, XM_005273551.1:c.845C>G, XM_005273551.1:c.845C>T, NM_001135721.3:c.845C>G, NM_001135721.3:c.845C>T, NM_001135721.2:c.845C>G, NM_001135721.2:c.845C>T, NM_001135721.1:c.845C>G, NM_001135721.1:c.845C>T, NM_001330480.2:c.845C>G, NM_001330480.2:c.845C>T, NM_001330480.1:c.845C>G, NM_001330480.1:c.845C>T, XM_047421924.1:c.845C>G, XM_047421924.1:c.845C>T, XM_047421925.1:c.845C>G, XM_047421925.1:c.845C>T, NP_060538.2:p.Pro282Arg, NP_060538.2:p.Pro282Leu, XP_005273608.1:p.Pro282Arg, XP_005273608.1:p.Pro282Leu, NP_001129193.1:p.Pro282Arg, NP_001129193.1:p.Pro282Leu, NP_001317409.1:p.Pro282Arg, NP_001317409.1:p.Pro282Leu, XP_047277880.1:p.Pro282Arg, XP_047277880.1:p.Pro282Leu, XP_047277881.1:p.Pro282Arg, XP_047277881.1:p.Pro282Leu

Select item 147454976618.

rs1474549766 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22318187 (GRCh38)
8:22175700 (GRCh37)
Canonical SPDI:: NC_000008.11:22318186:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22318187A>G, NC_000008.10:g.22175700A>G, NM_018068.5:c.2315A>G, NM_018068.4:c.2315A>G, NM_018068.3:c.2315A>G, XM_005273551.5:c.2315A>G, XM_005273551.4:c.2315A>G, XM_005273551.3:c.2315A>G, XM_005273551.2:c.2315A>G, XM_005273551.1:c.2315A>G, NM_001135721.3:c.2315A>G, NM_001135721.2:c.2315A>G, NM_001135721.1:c.2315A>G, NM_001330480.2:c.2315A>G, NM_001330480.1:c.2315A>G, XM_047421924.1:c.2315A>G, XM_047421925.1:c.2315A>G, NP_060538.2:p.Tyr772Cys, XP_005273608.1:p.Tyr772Cys, NP_001129193.1:p.Tyr772Cys, NP_001317409.1:p.Tyr772Cys, XP_047277880.1:p.Tyr772Cys, XP_047277881.1:p.Tyr772Cys

Select item 147269920019.

rs1472699200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:22355502 (GRCh38)
8:22213015 (GRCh37)
Canonical SPDI:: NC_000008.11:22355501:G:T
Gene:: PIWIL2 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.22355502G>T, NC_000008.10:g.22213015G>T, NM_018068.5:c.2919G>T, NM_018068.4:c.2919G>T, NM_018068.3:c.2919G>T, NM_001135721.3:c.2919G>T, NM_001135721.2:c.2919G>T, NM_001135721.1:c.2919G>T, NM_001330480.2:c.2811G>T, NM_001330480.1:c.2811G>T, XM_047421924.1:c.2811G>T

Select item 147218671120.

rs1472186711 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22308008 (GRCh38)
8:22165521 (GRCh37)
Canonical SPDI:: NC_000008.11:22308007:A:G
Gene:: PIWIL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000008.11:g.22308008A>G, NC_000008.10:g.22165521A>G, NM_018068.5:c.1621A>G, NM_018068.4:c.1621A>G, NM_018068.3:c.1621A>G, XM_005273551.5:c.1621A>G, XM_005273551.4:c.1621A>G, XM_005273551.3:c.1621A>G, XM_005273551.2:c.1621A>G, XM_005273551.1:c.1621A>G, NM_001135721.3:c.1621A>G, NM_001135721.2:c.1621A>G, NM_001135721.1:c.1621A>G, NM_001330480.2:c.1621A>G, NM_001330480.1:c.1621A>G, XM_047421924.1:c.1621A>G, XM_047421925.1:c.1621A>G, NP_060538.2:p.Lys541Glu, XP_005273608.1:p.Lys541Glu, NP_001129193.1:p.Lys541Glu, NP_001317409.1:p.Lys541Glu, XP_047277880.1:p.Lys541Glu, XP_047277881.1:p.Lys541Glu

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