SNP Links for Protein (Select 27901803) - SNP

Links from Protein

Items: 1 to 20 of 389

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Select item 14885761321.

rs1488576132 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67927393 (GRCh38)
16:67961296 (GRCh37)
Canonical SPDI:: NC_000016.10:67927392:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.67927393C>T, NC_000016.9:g.67961296C>T, NM_006742.3:c.1026C>T, NM_006742.2:c.1026C>T

Select item 14880997842.

rs1488099784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67927549 (GRCh38)
16:67961452 (GRCh37)
Canonical SPDI:: NC_000016.10:67927548:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67927549C>T, NC_000016.9:g.67961452C>T, NM_006742.3:c.1182C>T, NM_006742.2:c.1182C>T

Select item 14848317853.

rs1484831785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67927611 (GRCh38)
16:67961514 (GRCh37)
Canonical SPDI:: NC_000016.10:67927610:A:G
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67927611A>G, NC_000016.9:g.67961514A>G, NG_051639.1:g.9265T>C, NM_006742.3:c.1244A>G, NM_006742.2:c.1244A>G, NP_006733.1:p.Asn415Ser

Select item 14842944324.

rs1484294432 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67909515 (GRCh38)
16:67943418 (GRCh37)
Canonical SPDI:: NC_000016.10:67909514:A:T
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.67909515A>T, NC_000016.9:g.67943418A>T, NM_006742.3:c.766A>T, NM_006742.2:c.766A>T, NP_006733.1:p.Thr256Ser

Select item 14837111425.

rs1483711142 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67909251 (GRCh38)
16:67943154 (GRCh37)
Canonical SPDI:: NC_000016.10:67909250:G:A
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000016.10:g.67909251G>A, NC_000016.9:g.67943154G>A, NM_006742.3:c.502G>A, NM_006742.2:c.502G>A, NP_006733.1:p.Val168Met

Select item 14833855526.

rs1483385552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67909609 (GRCh38)
16:67943512 (GRCh37)
Canonical SPDI:: NC_000016.10:67909608:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67909609C>T, NC_000016.9:g.67943512C>T, NM_006742.3:c.860C>T, NM_006742.2:c.860C>T, NP_006733.1:p.Ala287Val

Select item 14827691267.

rs1482769126 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:67908913 (GRCh38)
16:67942816 (GRCh37)
Canonical SPDI:: NC_000016.10:67908912:C:G
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000012/3 (GnomAD_exomes)
G=0.000038/10 (TOPMED)
G=0.000071/10 (GnomAD)
HGVS:: NC_000016.10:g.67908913C>G, NC_000016.9:g.67942816C>G, NM_006742.3:c.164C>G, NM_006742.2:c.164C>G, NP_006733.1:p.Ala55Gly

Select item 14810134678.

rs1481013467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67908843 (GRCh38)
16:67942746 (GRCh37)
Canonical SPDI:: NC_000016.10:67908842:A:G
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67908843A>G, NC_000016.9:g.67942746A>G, NM_006742.3:c.94A>G, NM_006742.2:c.94A>G, NP_006733.1:p.Ser32Gly

Select item 14734007639.

rs1473400763 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67909187 (GRCh38)
16:67943090 (GRCh37)
Canonical SPDI:: NC_000016.10:67909186:G:A
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67909187G>A, NC_000016.9:g.67943090G>A, NM_006742.3:c.438G>A, NM_006742.2:c.438G>A

Select item 147307472710.

rs1473074727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67909534 (GRCh38)
16:67943437 (GRCh37)
Canonical SPDI:: NC_000016.10:67909533:A:C
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67909534A>C, NC_000016.9:g.67943437A>C, NM_006742.3:c.785A>C, NM_006742.2:c.785A>C, NP_006733.1:p.Glu262Ala

Select item 146798654911.

rs1467986549 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67927559 (GRCh38)
16:67961462 (GRCh37)
Canonical SPDI:: NC_000016.10:67927558:A:T
Gene:: PSKH1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000016.10:g.67927559A>T, NC_000016.9:g.67961462A>T, NM_006742.3:c.1192A>T, NM_006742.2:c.1192A>T, NP_006733.1:p.Thr398Ser

Select item 146353126312.

rs1463531263 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67909435 (GRCh38)
16:67943338 (GRCh37)
Canonical SPDI:: NC_000016.10:67909434:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.67909435C>T, NC_000016.9:g.67943338C>T, NM_006742.3:c.686C>T, NM_006742.2:c.686C>T, NP_006733.1:p.Pro229Leu

Select item 146204457413.

rs1462044574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:67909158 (GRCh38)
16:67943061 (GRCh37)
Canonical SPDI:: NC_000016.10:67909157:C:G,NC_000016.10:67909157:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.67909158C>G, NC_000016.10:g.67909158C>T, NC_000016.9:g.67943061C>G, NC_000016.9:g.67943061C>T, NM_006742.3:c.409C>G, NM_006742.3:c.409C>T, NM_006742.2:c.409C>G, NM_006742.2:c.409C>T, NP_006733.1:p.Arg137Gly, NP_006733.1:p.Arg137Trp

Select item 145845579214.

rs1458455792 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:67909120 (GRCh38)
16:67943023 (GRCh37)
Canonical SPDI:: NC_000016.10:67909119:A:T
Gene:: PSKH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000016/4 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000016.10:g.67909120A>T, NC_000016.9:g.67943023A>T, NM_006742.3:c.371A>T, NM_006742.2:c.371A>T, NP_006733.1:p.Tyr124Phe

Select item 145807572815.

rs1458075728 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:67927630 (GRCh38)
16:67961533 (GRCh37)
Canonical SPDI:: NC_000016.10:67927629:A:G
Gene:: PSKH1 (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)
G=0.000008/2 (GnomAD_exomes)
G=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.67927630A>G, NC_000016.9:g.67961533A>G, NG_051639.1:g.9246T>C, NM_006742.3:c.1263A>G, NM_006742.2:c.1263A>G

Select item 145601787416.

rs1456017874 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67909226 (GRCh38)
16:67943129 (GRCh37)
Canonical SPDI:: NC_000016.10:67909225:G:A
Gene:: PSKH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.67909226G>A, NC_000016.9:g.67943129G>A, NM_006742.3:c.477G>A, NM_006742.2:c.477G>A

Select item 145361316217.

rs1453613162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67927641 (GRCh38)
16:67961544 (GRCh37)
Canonical SPDI:: NC_000016.10:67927640:G:A
Gene:: PSKH1 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant
HGVS:: NC_000016.10:g.67927641G>A, NC_000016.9:g.67961544G>A, NG_051639.1:g.9235C>T, NM_006742.3:c.1274G>A, NM_006742.2:c.1274G>A

Select item 145336976318.

rs1453369763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:67909128 (GRCh38)
16:67943031 (GRCh37)
Canonical SPDI:: NC_000016.10:67909127:A:C
Gene:: PSKH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67909128A>C, NC_000016.9:g.67943031A>C, NM_006742.3:c.379A>C, NM_006742.2:c.379A>C, NP_006733.1:p.Lys127Gln

Select item 145335521419.

rs1453355214 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:67909567 (GRCh38)
16:67943470 (GRCh37)
Canonical SPDI:: NC_000016.10:67909566:C:T
Gene:: PSKH1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.67909567C>T, NC_000016.9:g.67943470C>T, NM_006742.3:c.818C>T, NM_006742.2:c.818C>T, NP_006733.1:p.Pro273Leu

Select item 145164617020.

rs1451646170 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:67909016 (GRCh38)
16:67942919 (GRCh37)
Canonical SPDI:: NC_000016.10:67909015:G:A
Gene:: PSKH1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.67909016G>A, NC_000016.9:g.67942919G>A, NM_006742.3:c.267G>A, NM_006742.2:c.267G>A

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Items: 1 to 20 of 389

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