SNP Links for Protein (Select 72384365) - SNP

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Links from Protein

Items: 1 to 20 of 693

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Select item 14912700161.

rs1491270016 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:52951007 (GRCh38)
19:53454260 (GRCh37)
Canonical SPDI:: NC_000019.10:52951006:TT:
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000094/1 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/1 (ExAC)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.52951007_52951008del, NC_000019.9:g.53454260_53454261del, NM_001031665.4:c.767_768del, NM_001031665.3:c.767_768del, NM_001031665.2:c.767_768del, NM_001202456.3:c.767_768del, NM_001202456.2:c.767_768del, NM_001202456.1:c.767_768del, NM_001202457.3:c.767_768del, NM_001202457.2:c.767_768del, NM_001202457.1:c.767_768del, NP_001026835.1:p.Glu256fs, NP_001189385.1:p.Glu256fs, NP_001189386.1:p.Glu256fs

Select item 14909431202.

rs1490943120 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:52950215 (GRCh38)
19:53453468 (GRCh37)
Canonical SPDI:: NC_000019.10:52950214:G:C
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52950215G>C, NC_000019.9:g.53453468G>C, NM_001031665.4:c.1560C>G, NM_001031665.3:c.1560C>G, NM_001031665.2:c.1560C>G, NM_001202456.3:c.1560C>G, NM_001202456.2:c.1560C>G, NM_001202456.1:c.1560C>G, NM_001202457.3:c.1560C>G, NM_001202457.2:c.1560C>G, NM_001202457.1:c.1560C>G

Select item 14905149173.

rs1490514917 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:52951392 (GRCh38)
19:53454645 (GRCh37)
Canonical SPDI:: NC_000019.10:52951391:G:C
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52951392G>C, NC_000019.9:g.53454645G>C, NM_001031665.4:c.383C>G, NM_001031665.3:c.383C>G, NM_001031665.2:c.383C>G, NM_001202456.3:c.383C>G, NM_001202456.2:c.383C>G, NM_001202456.1:c.383C>G, NM_001202457.3:c.383C>G, NM_001202457.2:c.383C>G, NM_001202457.1:c.383C>G, NP_001026835.1:p.Pro128Arg, NP_001189385.1:p.Pro128Arg, NP_001189386.1:p.Pro128Arg

Select item 14898344404.

rs1489834440 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52951053 (GRCh38)
19:53454306 (GRCh37)
Canonical SPDI:: NC_000019.10:52951052:C:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.52951053C>T, NC_000019.9:g.53454306C>T, NM_001031665.4:c.722G>A, NM_001031665.3:c.722G>A, NM_001031665.2:c.722G>A, NM_001202456.3:c.722G>A, NM_001202456.2:c.722G>A, NM_001202456.1:c.722G>A, NM_001202457.3:c.722G>A, NM_001202457.2:c.722G>A, NM_001202457.1:c.722G>A, NP_001026835.1:p.Ser241Asn, NP_001189385.1:p.Ser241Asn, NP_001189386.1:p.Ser241Asn

Select item 14891158755.

rs1489115875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52950682 (GRCh38)
19:53453935 (GRCh37)
Canonical SPDI:: NC_000019.10:52950681:C:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52950682C>T, NC_000019.9:g.53453935C>T, NM_001031665.4:c.1093G>A, NM_001031665.3:c.1093G>A, NM_001031665.2:c.1093G>A, NM_001202456.3:c.1093G>A, NM_001202456.2:c.1093G>A, NM_001202456.1:c.1093G>A, NM_001202457.3:c.1093G>A, NM_001202457.2:c.1093G>A, NM_001202457.1:c.1093G>A, NP_001026835.1:p.Gly365Arg, NP_001189385.1:p.Gly365Arg, NP_001189386.1:p.Gly365Arg

Select item 14868652256.

rs1486865225 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:52951111 (GRCh38)
19:53454364 (GRCh37)
Canonical SPDI:: NC_000019.10:52951110:T:C,NC_000019.10:52951110:T:G
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52951111T>C, NC_000019.10:g.52951111T>G, NC_000019.9:g.53454364T>C, NC_000019.9:g.53454364T>G, NM_001031665.4:c.664A>G, NM_001031665.4:c.664A>C, NM_001031665.3:c.664A>G, NM_001031665.3:c.664A>C, NM_001031665.2:c.664A>G, NM_001031665.2:c.664A>C, NM_001202456.3:c.664A>G, NM_001202456.3:c.664A>C, NM_001202456.2:c.664A>G, NM_001202456.2:c.664A>C, NM_001202456.1:c.664A>G, NM_001202456.1:c.664A>C, NM_001202457.3:c.664A>G, NM_001202457.3:c.664A>C, NM_001202457.2:c.664A>G, NM_001202457.2:c.664A>C, NM_001202457.1:c.664A>G, NM_001202457.1:c.664A>C, NP_001026835.1:p.Ile222Val, NP_001026835.1:p.Ile222Leu, NP_001189385.1:p.Ile222Val, NP_001189385.1:p.Ile222Leu, NP_001189386.1:p.Ile222Val, NP_001189386.1:p.Ile222Leu

Select item 14854454247.

rs1485445424 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52949963 (GRCh38)
19:53453216 (GRCh37)
Canonical SPDI:: NC_000019.10:52949962:T:C
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52949963T>C, NC_000019.9:g.53453216T>C, NM_001031665.4:c.1812A>G, NM_001031665.3:c.1812A>G, NM_001031665.2:c.1812A>G, NM_001202456.3:c.1812A>G, NM_001202456.2:c.1812A>G, NM_001202456.1:c.1812A>G, NM_001202457.3:c.1812A>G, NM_001202457.2:c.1812A>G, NM_001202457.1:c.1812A>G

Select item 14841730148.

rs1484173014 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52951465 (GRCh38)
19:53454718 (GRCh37)
Canonical SPDI:: NC_000019.10:52951464:G:A
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52951465G>A, NC_000019.9:g.53454718G>A, NM_001031665.4:c.310C>T, NM_001031665.3:c.310C>T, NM_001031665.2:c.310C>T, NM_001202456.3:c.310C>T, NM_001202456.2:c.310C>T, NM_001202456.1:c.310C>T, NM_001202457.3:c.310C>T, NM_001202457.2:c.310C>T, NM_001202457.1:c.310C>T, NP_001026835.1:p.Pro104Ser, NP_001189385.1:p.Pro104Ser, NP_001189386.1:p.Pro104Ser

Select item 14826847829.

rs1482684782 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:52950436 (GRCh38)
19:53453689 (GRCh37)
Canonical SPDI:: NC_000019.10:52950435:G:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52950436G>T, NC_000019.9:g.53453689G>T, NM_001031665.4:c.1339C>A, NM_001031665.3:c.1339C>A, NM_001031665.2:c.1339C>A, NM_001202456.3:c.1339C>A, NM_001202456.2:c.1339C>A, NM_001202456.1:c.1339C>A, NM_001202457.3:c.1339C>A, NM_001202457.2:c.1339C>A, NM_001202457.1:c.1339C>A, NP_001026835.1:p.His447Asn, NP_001189385.1:p.His447Asn, NP_001189386.1:p.His447Asn

Select item 148235726510.

rs1482357265 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:52950142 (GRCh38)
19:53453395 (GRCh37)
Canonical SPDI:: NC_000019.10:52950141:C:G
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52950142C>G, NC_000019.9:g.53453395C>G, NM_001031665.4:c.1633G>C, NM_001031665.3:c.1633G>C, NM_001031665.2:c.1633G>C, NM_001202456.3:c.1633G>C, NM_001202456.2:c.1633G>C, NM_001202456.1:c.1633G>C, NM_001202457.3:c.1633G>C, NM_001202457.2:c.1633G>C, NM_001202457.1:c.1633G>C, NP_001026835.1:p.Ala545Pro, NP_001189385.1:p.Ala545Pro, NP_001189386.1:p.Ala545Pro

Select item 148209929711.

rs1482099297 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52952784 (GRCh38)
19:53456037 (GRCh37)
Canonical SPDI:: NC_000019.10:52952783:T:C
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.52952784T>C, NC_000019.9:g.53456037T>C, NM_001031665.4:c.157A>G, NM_001031665.3:c.157A>G, NM_001031665.2:c.157A>G, NM_001202456.3:c.157A>G, NM_001202456.2:c.157A>G, NM_001202456.1:c.157A>G, NM_001202457.3:c.157A>G, NM_001202457.2:c.157A>G, NM_001202457.1:c.157A>G, NM_001202473.2:c.157A>G, NM_001202473.1:c.157A>G, NP_001026835.1:p.Met53Val, NP_001189385.1:p.Met53Val, NP_001189386.1:p.Met53Val, NP_001189402.1:p.Met53Val

Select item 148199718112.

rs1481997181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52952856 (GRCh38)
19:53456109 (GRCh37)
Canonical SPDI:: NC_000019.10:52952855:C:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.52952856C>T, NC_000019.9:g.53456109C>T, NM_001031665.4:c.85G>A, NM_001031665.3:c.85G>A, NM_001031665.2:c.85G>A, NM_001202456.3:c.85G>A, NM_001202456.2:c.85G>A, NM_001202456.1:c.85G>A, NM_001202457.3:c.85G>A, NM_001202457.2:c.85G>A, NM_001202457.1:c.85G>A, NM_001202473.2:c.85G>A, NM_001202473.1:c.85G>A, NP_001026835.1:p.Val29Met, NP_001189385.1:p.Val29Met, NP_001189386.1:p.Val29Met, NP_001189402.1:p.Val29Met

Select item 148059751513.

rs1480597515 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:52951183 (GRCh38)
19:53454436 (GRCh37)
Canonical SPDI:: NC_000019.10:52951182:T:C
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52951183T>C, NC_000019.9:g.53454436T>C, NM_001031665.4:c.592A>G, NM_001031665.3:c.592A>G, NM_001031665.2:c.592A>G, NM_001202456.3:c.592A>G, NM_001202456.2:c.592A>G, NM_001202456.1:c.592A>G, NM_001202457.3:c.592A>G, NM_001202457.2:c.592A>G, NM_001202457.1:c.592A>G, NP_001026835.1:p.Arg198Gly, NP_001189385.1:p.Arg198Gly, NP_001189386.1:p.Arg198Gly

Select item 147895663914.

rs1478956639 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:52950929 (GRCh38)
19:53454182 (GRCh37)
Canonical SPDI:: NC_000019.10:52950928:C:G
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52950929C>G, NC_000019.9:g.53454182C>G, NM_001031665.4:c.846G>C, NM_001031665.3:c.846G>C, NM_001031665.2:c.846G>C, NM_001202456.3:c.846G>C, NM_001202456.2:c.846G>C, NM_001202456.1:c.846G>C, NM_001202457.3:c.846G>C, NM_001202457.2:c.846G>C, NM_001202457.1:c.846G>C, NP_001026835.1:p.Glu282Asp, NP_001189385.1:p.Glu282Asp, NP_001189386.1:p.Glu282Asp

Select item 147731964015.

rs1477319640 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGTGGCTT>- [Show Flanks]
Chromosome:: 19:52956069 (GRCh38)
19:53459322 (GRCh37)
Canonical SPDI:: NC_000019.10:52956065:CTTGGTGGCTT:CTT
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.52956069_52956076del, NC_000019.9:g.53459322_53459329del, NM_001031665.4:c.17_24del, NM_001031665.3:c.17_24del, NM_001031665.2:c.17_24del, NM_001202456.3:c.17_24del, NM_001202456.2:c.17_24del, NM_001202456.1:c.17_24del, NM_001202457.3:c.17_24del, NM_001202457.2:c.17_24del, NM_001202457.1:c.17_24del, NM_001202473.2:c.17_24del, NM_001202473.1:c.17_24del, NP_001026835.1:p.Ala6fs, NP_001189385.1:p.Ala6fs, NP_001189386.1:p.Ala6fs, NP_001189402.1:p.Ala6fs

Select item 147699135816.

rs1476991358 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:52950305 (GRCh38)
19:53453558 (GRCh37)
Canonical SPDI:: NC_000019.10:52950304:A:G
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52950305A>G, NC_000019.9:g.53453558A>G, NM_001031665.4:c.1470T>C, NM_001031665.3:c.1470T>C, NM_001031665.2:c.1470T>C, NM_001202456.3:c.1470T>C, NM_001202456.2:c.1470T>C, NM_001202456.1:c.1470T>C, NM_001202457.3:c.1470T>C, NM_001202457.2:c.1470T>C, NM_001202457.1:c.1470T>C

Select item 147668044617.

rs1476680446 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52950454 (GRCh38)
19:53453707 (GRCh37)
Canonical SPDI:: NC_000019.10:52950453:C:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52950454C>T, NC_000019.9:g.53453707C>T, NM_001031665.4:c.1321G>A, NM_001031665.3:c.1321G>A, NM_001031665.2:c.1321G>A, NM_001202456.3:c.1321G>A, NM_001202456.2:c.1321G>A, NM_001202456.1:c.1321G>A, NM_001202457.3:c.1321G>A, NM_001202457.2:c.1321G>A, NM_001202457.1:c.1321G>A, NP_001026835.1:p.Ala441Thr, NP_001189385.1:p.Ala441Thr, NP_001189386.1:p.Ala441Thr

Select item 147161913118.

rs1471619131 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:52950052 (GRCh38)
19:53453305 (GRCh37)
Canonical SPDI:: NC_000019.10:52950051:T:A
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.52950052T>A, NC_000019.9:g.53453305T>A, NM_001031665.4:c.1723A>T, NM_001031665.3:c.1723A>T, NM_001031665.2:c.1723A>T, NM_001202456.3:c.1723A>T, NM_001202456.2:c.1723A>T, NM_001202456.1:c.1723A>T, NM_001202457.3:c.1723A>T, NM_001202457.2:c.1723A>T, NM_001202457.1:c.1723A>T, NP_001026835.1:p.Asn575Tyr, NP_001189385.1:p.Asn575Tyr, NP_001189386.1:p.Asn575Tyr

Select item 147018095919.

rs1470180959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:52952869 (GRCh38)
19:53456122 (GRCh37)
Canonical SPDI:: NC_000019.10:52952868:C:T
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.52952869C>T, NC_000019.9:g.53456122C>T, NM_001031665.4:c.72G>A, NM_001031665.3:c.72G>A, NM_001031665.2:c.72G>A, NM_001202456.3:c.72G>A, NM_001202456.2:c.72G>A, NM_001202456.1:c.72G>A, NM_001202457.3:c.72G>A, NM_001202457.2:c.72G>A, NM_001202457.1:c.72G>A, NM_001202473.2:c.72G>A, NM_001202473.1:c.72G>A

Select item 146833510320.

rs1468335103 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:52950448 (GRCh38)
19:53453701 (GRCh37)
Canonical SPDI:: NC_000019.10:52950447:G:A
Gene:: ZNF816 (Varview), ZNF816-ZNF321P (Varview)
Functional Consequence:: missense_variant,intron_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_000019.10:g.52950448G>A, NC_000019.9:g.53453701G>A, NM_001031665.4:c.1327C>T, NM_001031665.3:c.1327C>T, NM_001031665.2:c.1327C>T, NM_001202456.3:c.1327C>T, NM_001202456.2:c.1327C>T, NM_001202456.1:c.1327C>T, NM_001202457.3:c.1327C>T, NM_001202457.2:c.1327C>T, NM_001202457.1:c.1327C>T, NP_001026835.1:p.His443Tyr, NP_001189385.1:p.His443Tyr, NP_001189386.1:p.His443Tyr

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