SNP Links for Protein (Select 289547705) - SNP

Links from Protein

Items: 1 to 20 of 934

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Select item 14892707211.

rs1489270721 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:53140861 (GRCh38)
19:53644114 (GRCh37)
Canonical SPDI:: NC_000019.10:53140860:T:A
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53140861T>A, NC_000019.9:g.53644114T>A, NM_032584.3:c.1967A>T, NM_032584.2:c.1967A>T, NM_001172674.2:c.1970A>T, NM_001172674.1:c.1970A>T, NM_001172675.2:c.1970A>T, NM_001172675.1:c.1970A>T, NP_115973.2:p.Asn656Ile, NP_001166145.1:p.Asn657Ile, NP_001166146.1:p.Asn657Ile

Select item 14892633652.

rs1489263365 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53140998 (GRCh38)
19:53644251 (GRCh37)
Canonical SPDI:: NC_000019.10:53140997:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53140998T>C, NC_000019.9:g.53644251T>C, NM_032584.3:c.1830A>G, NM_032584.2:c.1830A>G, NM_001172674.2:c.1833A>G, NM_001172674.1:c.1833A>G, NM_001172675.2:c.1833A>G, NM_001172675.1:c.1833A>G

Select item 14883926273.

rs1488392627 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:53141071 (GRCh38)
19:53644324 (GRCh37)
Canonical SPDI:: NC_000019.10:53141070:C:G
Gene:: ZNF347 (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)
HGVS:: NC_000019.10:g.53141071C>G, NC_000019.9:g.53644324C>G, NM_032584.3:c.1757G>C, NM_032584.2:c.1757G>C, NM_001172674.2:c.1760G>C, NM_001172674.1:c.1760G>C, NM_001172675.2:c.1760G>C, NM_001172675.1:c.1760G>C, NP_115973.2:p.Arg586Thr, NP_001166145.1:p.Arg587Thr, NP_001166146.1:p.Arg587Thr

Select item 14875653274.

rs1487565327 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 19:53149312 (GRCh38)
19:53652565 (GRCh37)
Canonical SPDI:: NC_000019.10:53149311:C:
Gene:: ZNF347 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53149312del, NC_000019.9:g.53652565del, NM_032584.3:c.71del, NM_032584.2:c.71del, NM_001172674.2:c.71del, NM_001172674.1:c.71del, NM_001172675.2:c.71del, NM_001172675.1:c.71del, NP_115973.2:p.Cys24fs, NP_001166145.1:p.Cys24fs, NP_001166146.1:p.Cys24fs

Select item 14841281155.

rs1484128115 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53140628 (GRCh38)
19:53643881 (GRCh37)
Canonical SPDI:: NC_000019.10:53140627:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00082/11 (ALFA)
C=0.00166/28 (TOMMO)
HGVS:: NC_000019.10:g.53140628T>C, NC_000019.9:g.53643881T>C, NM_032584.3:c.2200A>G, NM_032584.2:c.2200A>G, NM_001172674.2:c.2203A>G, NM_001172674.1:c.2203A>G, NM_001172675.2:c.2203A>G, NM_001172675.1:c.2203A>G, NP_115973.2:p.Lys734Glu, NP_001166145.1:p.Lys735Glu, NP_001166146.1:p.Lys735Glu

Select item 14836566136.

rs1483656613 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53140771 (GRCh38)
19:53644024 (GRCh37)
Canonical SPDI:: NC_000019.10:53140770:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53140771C>T, NC_000019.9:g.53644024C>T, NM_032584.3:c.2057G>A, NM_032584.2:c.2057G>A, NM_001172674.2:c.2060G>A, NM_001172674.1:c.2060G>A, NM_001172675.2:c.2060G>A, NM_001172675.1:c.2060G>A, NP_115973.2:p.Cys686Tyr, NP_001166145.1:p.Cys687Tyr, NP_001166146.1:p.Cys687Tyr

Select item 14824792487.

rs1482479248 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53140996 (GRCh38)
19:53644249 (GRCh37)
Canonical SPDI:: NC_000019.10:53140995:T:G
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.53140996T>G, NC_000019.9:g.53644249T>G, NM_032584.3:c.1832A>C, NM_032584.2:c.1832A>C, NM_001172674.2:c.1835A>C, NM_001172674.1:c.1835A>C, NM_001172675.2:c.1835A>C, NM_001172675.1:c.1835A>C, NP_115973.2:p.Tyr611Ser, NP_001166145.1:p.Tyr612Ser, NP_001166146.1:p.Tyr612Ser

Select item 14796324858.

rs1479632485 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:53141330 (GRCh38)
19:53644583 (GRCh37)
Canonical SPDI:: NC_000019.10:53141329:GG:G
Gene:: ZNF347 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.53141331del, NC_000019.9:g.53644584del, NM_032584.3:c.1498del, NM_032584.2:c.1498del, NM_001172674.2:c.1501del, NM_001172674.1:c.1501del, NM_001172675.2:c.1501del, NM_001172675.1:c.1501del, NP_115973.2:p.Asn499_Leu500insTer, NP_001166145.1:p.Asn500_Leu501insTer, NP_001166146.1:p.Asn500_Leu501insTer

Select item 14779531889.

rs1477953188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53141140 (GRCh38)
19:53644393 (GRCh37)
Canonical SPDI:: NC_000019.10:53141139:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.53141140T>C, NC_000019.9:g.53644393T>C, NM_032584.3:c.1688A>G, NM_032584.2:c.1688A>G, NM_001172674.2:c.1691A>G, NM_001172674.1:c.1691A>G, NM_001172675.2:c.1691A>G, NM_001172675.1:c.1691A>G, NP_115973.2:p.His563Arg, NP_001166145.1:p.His564Arg, NP_001166146.1:p.His564Arg

Select item 147735332710.

rs1477353327 [Homo sapiens]

Variant type:: DEL
Alleles:: TGT>- [Show Flanks]
Chromosome:: 19:53142520 (GRCh38)
19:53645773 (GRCh37)
Canonical SPDI:: NC_000019.10:53142519:TGT:
Gene:: ZNF347 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.53142520_53142522del, NC_000019.9:g.53645773_53645775del, NM_032584.3:c.306_308del, NM_032584.2:c.306_308del, NM_001172674.2:c.309_311del, NM_001172674.1:c.309_311del, NM_001172675.2:c.309_311del, NM_001172675.1:c.309_311del, NP_115973.2:p.His103del, NP_001166145.1:p.His104del, NP_001166146.1:p.His104del

Select item 147349083911.

rs1473490839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:53140557 (GRCh38)
19:53643810 (GRCh37)
Canonical SPDI:: NC_000019.10:53140556:T:G
Gene:: ZNF347 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53140557T>G, NC_000019.9:g.53643810T>G, NM_032584.3:c.2271A>C, NM_032584.2:c.2271A>C, NM_001172674.2:c.2274A>C, NM_001172674.1:c.2274A>C, NM_001172675.2:c.2274A>C, NM_001172675.1:c.2274A>C

Select item 147233540612.

rs1472335406 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53141826 (GRCh38)
19:53645079 (GRCh37)
Canonical SPDI:: NC_000019.10:53141825:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.001119/5 (ALFA)
C=0.000029/4 (GnomAD)
HGVS:: NC_000019.10:g.53141826T>C, NC_000019.9:g.53645079T>C, NM_032584.3:c.1002A>G, NM_032584.2:c.1002A>G, NM_001172674.2:c.1005A>G, NM_001172674.1:c.1005A>G, NM_001172675.2:c.1005A>G, NM_001172675.1:c.1005A>G

Select item 147206588813.

rs1472065888 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53140875 (GRCh38)
19:53644128 (GRCh37)
Canonical SPDI:: NC_000019.10:53140874:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002237/10 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000354/6 (TOMMO)
HGVS:: NC_000019.10:g.53140875T>C, NC_000019.9:g.53644128T>C, NM_032584.3:c.1953A>G, NM_032584.2:c.1953A>G, NM_001172674.2:c.1956A>G, NM_001172674.1:c.1956A>G, NM_001172675.2:c.1956A>G, NM_001172675.1:c.1956A>G

Select item 147169481214.

rs1471694812 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53142446 (GRCh38)
19:53645699 (GRCh37)
Canonical SPDI:: NC_000019.10:53142445:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53142446C>T, NC_000019.9:g.53645699C>T, NM_032584.3:c.382G>A, NM_032584.2:c.382G>A, NM_001172674.2:c.385G>A, NM_001172674.1:c.385G>A, NM_001172675.2:c.385G>A, NM_001172675.1:c.385G>A, NP_115973.2:p.Gly128Arg, NP_001166145.1:p.Gly129Arg, NP_001166146.1:p.Gly129Arg

Select item 147077919015.

rs1470779190 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:53141358 (GRCh38)
19:53644611 (GRCh37)
Canonical SPDI:: NC_000019.10:53141357:A:G
Gene:: ZNF347 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.53141358A>G, NC_000019.9:g.53644611A>G, NM_032584.3:c.1470T>C, NM_032584.2:c.1470T>C, NM_001172674.2:c.1473T>C, NM_001172674.1:c.1473T>C, NM_001172675.2:c.1473T>C, NM_001172675.1:c.1473T>C

Select item 146862866216.

rs1468628662 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:53141662 (GRCh38)
19:53644915 (GRCh37)
Canonical SPDI:: NC_000019.10:53141661:G:A
Gene:: ZNF347 (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_000019.10:g.53141662G>A, NC_000019.9:g.53644915G>A, NM_032584.3:c.1166C>T, NM_032584.2:c.1166C>T, NM_001172674.2:c.1169C>T, NM_001172674.1:c.1169C>T, NM_001172675.2:c.1169C>T, NM_001172675.1:c.1169C>T, NP_115973.2:p.Ala389Val, NP_001166145.1:p.Ala390Val, NP_001166146.1:p.Ala390Val

Select item 146604670517.

rs1466046705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:53140728 (GRCh38)
19:53643981 (GRCh37)
Canonical SPDI:: NC_000019.10:53140727:C:T
Gene:: ZNF347 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53140728C>T, NC_000019.9:g.53643981C>T, NM_032584.3:c.2100G>A, NM_032584.2:c.2100G>A, NM_001172674.2:c.2103G>A, NM_001172674.1:c.2103G>A, NM_001172675.2:c.2103G>A, NM_001172675.1:c.2103G>A

Select item 146549695418.

rs1465496954 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53140655 (GRCh38)
19:53643908 (GRCh37)
Canonical SPDI:: NC_000019.10:53140654:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53140655T>C, NC_000019.9:g.53643908T>C, NM_032584.3:c.2173A>G, NM_032584.2:c.2173A>G, NM_001172674.2:c.2176A>G, NM_001172674.1:c.2176A>G, NM_001172675.2:c.2176A>G, NM_001172675.1:c.2176A>G, NP_115973.2:p.Thr725Ala, NP_001166145.1:p.Thr726Ala, NP_001166146.1:p.Thr726Ala

Select item 146447719419.

rs1464477194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:53142093 (GRCh38)
19:53645346 (GRCh37)
Canonical SPDI:: NC_000019.10:53142092:A:C
Gene:: ZNF347 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.53142093A>C, NC_000019.9:g.53645346A>C, NM_032584.3:c.735T>G, NM_032584.2:c.735T>G, NM_001172674.2:c.738T>G, NM_001172674.1:c.738T>G, NM_001172675.2:c.738T>G, NM_001172675.1:c.738T>G

Select item 146424337920.

rs1464243379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:53140556 (GRCh38)
19:53643809 (GRCh37)
Canonical SPDI:: NC_000019.10:53140555:T:C
Gene:: ZNF347 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.53140556T>C, NC_000019.9:g.53643809T>C, NM_032584.3:c.2272A>G, NM_032584.2:c.2272A>G, NM_001172674.2:c.2275A>G, NM_001172674.1:c.2275A>G, NM_001172675.2:c.2275A>G, NM_001172675.1:c.2275A>G, NP_115973.2:p.Ile758Val, NP_001166145.1:p.Ile759Val, NP_001166146.1:p.Ile759Val

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