SNP Links for Protein (Select 110431336) - SNP

Links from Protein

Items: 1 to 20 of 497

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Select item 14861815511.

rs1486181551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58053693 (GRCh38)
19:58565061 (GRCh37)
Canonical SPDI:: NC_000019.10:58053692:G:A,NC_000019.10:58053692:G:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.58053693G>A, NC_000019.10:g.58053693G>C, NC_000019.9:g.58565061G>A, NC_000019.9:g.58565061G>C, NM_182572.4:c.869G>A, NM_182572.4:c.869G>C, NM_182572.3:c.869G>A, NM_182572.3:c.869G>C, XM_006723149.3:c.989G>A, XM_006723149.3:c.989G>C, XM_006723149.2:c.989G>A, XM_006723149.2:c.989G>C, XM_006723149.1:c.989G>A, XM_006723149.1:c.989G>C, XM_047438630.1:c.590G>A, XM_047438630.1:c.590G>C, NP_872378.3:p.Arg290Gln, NP_872378.3:p.Arg290Pro, XP_006723212.1:p.Arg330Gln, XP_006723212.1:p.Arg330Pro, XP_047294586.1:p.Arg197Gln, XP_047294586.1:p.Arg197Pro

Select item 14842711482.

rs1484271148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:58038190 (GRCh38)
19:58549558 (GRCh37)
Canonical SPDI:: NC_000019.10:58038189:G:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58038190G>C, NC_000019.9:g.58549558G>C, NM_182572.4:c.354G>C, NM_182572.3:c.354G>C, XM_006723149.3:c.474G>C, XM_006723149.2:c.474G>C, XM_006723149.1:c.474G>C, NP_872378.3:p.Gln118His, XP_006723212.1:p.Gln158His

Select item 14822257493.

rs1482225749 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58054028 (GRCh38)
19:58565396 (GRCh37)
Canonical SPDI:: NC_000019.10:58054027:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58054028C>T, NC_000019.9:g.58565396C>T, NM_182572.4:c.1204C>T, NM_182572.3:c.1204C>T, XM_006723149.3:c.1324C>T, XM_006723149.2:c.1324C>T, XM_006723149.1:c.1324C>T, XM_047438630.1:c.925C>T, NP_872378.3:p.His402Tyr, XP_006723212.1:p.His442Tyr, XP_047294586.1:p.His309Tyr

Select item 14816553304.

rs1481655330 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:58038040 (GRCh38)
19:58549409 (GRCh37)
Canonical SPDI:: NC_000019.10:58038040:CCC:CCCC
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CCCC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58038043dup, NC_000019.9:g.58549411dup, NM_182572.4:c.207dup, NM_182572.3:c.207dup, XM_006723149.3:c.327dup, XM_006723149.2:c.327dup, XM_006723149.1:c.327dup, NP_872378.3:p.Glu70fs, XP_006723212.1:p.Glu110fs

Select item 14772778095.

rs1477277809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:58038062 (GRCh38)
19:58549430 (GRCh37)
Canonical SPDI:: NC_000019.10:58038061:C:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58038062C>G, NC_000019.9:g.58549430C>G, NM_182572.4:c.226C>G, NM_182572.3:c.226C>G, XM_006723149.3:c.346C>G, XM_006723149.2:c.346C>G, XM_006723149.1:c.346C>G, NP_872378.3:p.Gln76Glu, XP_006723212.1:p.Gln116Glu

Select item 14762519206.

rs1476251920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58052511 (GRCh38)
19:58563879 (GRCh37)
Canonical SPDI:: NC_000019.10:58052510:G:A
Gene:: ZSCAN1 (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.58052511G>A, NC_000019.9:g.58563879G>A, NM_182572.4:c.487G>A, NM_182572.3:c.487G>A, XM_006723149.3:c.607G>A, XM_006723149.2:c.607G>A, XM_006723149.1:c.607G>A, XM_047438630.1:c.208G>A, NP_872378.3:p.Ala163Thr, XP_006723212.1:p.Ala203Thr, XP_047294586.1:p.Ala70Thr

Select item 14736712697.

rs1473671269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58038141 (GRCh38)
19:58549509 (GRCh37)
Canonical SPDI:: NC_000019.10:58038140:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58038141G>A, NC_000019.9:g.58549509G>A, NM_182572.4:c.305G>A, NM_182572.3:c.305G>A, XM_006723149.3:c.425G>A, XM_006723149.2:c.425G>A, XM_006723149.1:c.425G>A, NP_872378.3:p.Gly102Asp, XP_006723212.1:p.Gly142Asp

Select item 14736509288.

rs1473650928 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:58052545 (GRCh38)
19:58563913 (GRCh37)
Canonical SPDI:: NC_000019.10:58052544:G:A,NC_000019.10:58052544:G:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.58052545G>A, NC_000019.10:g.58052545G>T, NC_000019.9:g.58563913G>A, NC_000019.9:g.58563913G>T, NM_182572.4:c.521G>A, NM_182572.4:c.521G>T, NM_182572.3:c.521G>A, NM_182572.3:c.521G>T, XM_006723149.3:c.641G>A, XM_006723149.3:c.641G>T, XM_006723149.2:c.641G>A, XM_006723149.2:c.641G>T, XM_006723149.1:c.641G>A, XM_006723149.1:c.641G>T, XM_047438630.1:c.242G>A, XM_047438630.1:c.242G>T, NP_872378.3:p.Ser174Asn, NP_872378.3:p.Ser174Ile, XP_006723212.1:p.Ser214Asn, XP_006723212.1:p.Ser214Ile, XP_047294586.1:p.Ser81Asn, XP_047294586.1:p.Ser81Ile

Select item 14723380079.

rs1472338007 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58053991 (GRCh38)
19:58565359 (GRCh37)
Canonical SPDI:: NC_000019.10:58053990:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58053991C>T, NC_000019.9:g.58565359C>T, NM_182572.4:c.1167C>T, NM_182572.3:c.1167C>T, XM_006723149.3:c.1287C>T, XM_006723149.2:c.1287C>T, XM_006723149.1:c.1287C>T, XM_047438630.1:c.888C>T

Select item 147090531710.

rs1470905317 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58053711 (GRCh38)
19:58565079 (GRCh37)
Canonical SPDI:: NC_000019.10:58053710:A:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000223/2 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58053711A>G, NC_000019.9:g.58565079A>G, NM_182572.4:c.887A>G, NM_182572.3:c.887A>G, XM_006723149.3:c.1007A>G, XM_006723149.2:c.1007A>G, XM_006723149.1:c.1007A>G, XM_047438630.1:c.608A>G, NP_872378.3:p.Asp296Gly, XP_006723212.1:p.Asp336Gly, XP_047294586.1:p.Asp203Gly

Select item 147045837411.

rs1470458374 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:58053852 (GRCh38)
19:58565220 (GRCh37)
Canonical SPDI:: NC_000019.10:58053851:T:
Gene:: ZSCAN1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0./0 (GnomAD)
-=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58053852del, NC_000019.9:g.58565220del, NM_182572.4:c.1028del, NM_182572.3:c.1028del, XM_006723149.3:c.1148del, XM_006723149.2:c.1148del, XM_006723149.1:c.1148del, XM_047438630.1:c.749del, NP_872378.3:p.Leu343fs, XP_006723212.1:p.Leu383fs, XP_047294586.1:p.Leu250fs

Select item 146499846012.

rs1464998460 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58037980 (GRCh38)
19:58549348 (GRCh37)
Canonical SPDI:: NC_000019.10:58037979:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58037980G>A, NC_000019.9:g.58549348G>A, NM_182572.4:c.144G>A, NM_182572.3:c.144G>A, XM_006723149.3:c.264G>A, XM_006723149.2:c.264G>A, XM_006723149.1:c.264G>A

Select item 146322707413.

rs1463227074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58053996 (GRCh38)
19:58565364 (GRCh37)
Canonical SPDI:: NC_000019.10:58053995:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.58053996G>A, NC_000019.9:g.58565364G>A, NM_182572.4:c.1172G>A, NM_182572.3:c.1172G>A, XM_006723149.3:c.1292G>A, XM_006723149.2:c.1292G>A, XM_006723149.1:c.1292G>A, XM_047438630.1:c.893G>A, NP_872378.3:p.Trp391Ter, XP_006723212.1:p.Trp431Ter, XP_047294586.1:p.Trp298Ter

Select item 146302231614.

rs1463022316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58053680 (GRCh38)
19:58565048 (GRCh37)
Canonical SPDI:: NC_000019.10:58053679:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.58053680C>T, NC_000019.9:g.58565048C>T, NM_182572.4:c.856C>T, NM_182572.3:c.856C>T, XM_006723149.3:c.976C>T, XM_006723149.2:c.976C>T, XM_006723149.1:c.976C>T, XM_047438630.1:c.577C>T, NP_872378.3:p.Pro286Ser, XP_006723212.1:p.Pro326Ser, XP_047294586.1:p.Pro193Ser

Select item 145903116115.

rs1459031161 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58038067 (GRCh38)
19:58549435 (GRCh37)
Canonical SPDI:: NC_000019.10:58038066:G:A,NC_000019.10:58038066:G:C
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58038067G>A, NC_000019.10:g.58038067G>C, NC_000019.9:g.58549435G>A, NC_000019.9:g.58549435G>C, NM_182572.4:c.231G>A, NM_182572.4:c.231G>C, NM_182572.3:c.231G>A, NM_182572.3:c.231G>C, XM_006723149.3:c.351G>A, XM_006723149.3:c.351G>C, XM_006723149.2:c.351G>A, XM_006723149.2:c.351G>C, XM_006723149.1:c.351G>A, XM_006723149.1:c.351G>C, NP_872378.3:p.Met77Ile, NP_872378.3:p.Met77Ile, XP_006723212.1:p.Met117Ile, XP_006723212.1:p.Met117Ile

Select item 145661172516.

rs1456611725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58037844 (GRCh38)
19:58549212 (GRCh37)
Canonical SPDI:: NC_000019.10:58037843:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000019.10:g.58037844C>T, NC_000019.9:g.58549212C>T, NM_182572.4:c.8C>T, NM_182572.3:c.8C>T, XM_006723149.3:c.128C>T, XM_006723149.2:c.128C>T, XM_006723149.1:c.128C>T, NP_872378.3:p.Pro3Leu, XP_006723212.1:p.Pro43Leu

Select item 145507188517.

rs1455071885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58038198 (GRCh38)
19:58549566 (GRCh37)
Canonical SPDI:: NC_000019.10:58038197:A:G
Gene:: ZSCAN1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_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.58038198A>G, NC_000019.9:g.58549566A>G, NM_182572.4:c.362A>G, NM_182572.3:c.362A>G, XM_006723149.3:c.482A>G, XM_006723149.2:c.482A>G, XM_006723149.1:c.482A>G, NP_872378.3:p.Gln121Arg, XP_006723212.1:p.Gln161Arg

Select item 145454753418.

rs1454547534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58053670 (GRCh38)
19:58565038 (GRCh37)
Canonical SPDI:: NC_000019.10:58053669:G:A
Gene:: ZSCAN1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58053670G>A, NC_000019.9:g.58565038G>A, NM_182572.4:c.846G>A, NM_182572.3:c.846G>A, XM_006723149.3:c.966G>A, XM_006723149.2:c.966G>A, XM_006723149.1:c.966G>A, XM_047438630.1:c.567G>A

Select item 145244856419.

rs1452448564 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:58054035 (GRCh38)
19:58565403 (GRCh37)
Canonical SPDI:: NC_000019.10:58054034:CCC:CC
Gene:: ZSCAN1 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58054037del, NC_000019.9:g.58565405del, NM_182572.4:c.1213del, NM_182572.3:c.1213del, XM_006723149.3:c.1333del, XM_006723149.2:c.1333del, XM_006723149.1:c.1333del, XM_047438630.1:c.934del, NP_872378.3:p.His405fs, XP_006723212.1:p.His445fs, XP_047294586.1:p.His312fs

Select item 145039560620.

rs1450395606 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58038124 (GRCh38)
19:58549492 (GRCh37)
Canonical SPDI:: NC_000019.10:58038123:C:G,NC_000019.10:58038123:C:T
Gene:: ZSCAN1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000051/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58038124C>G, NC_000019.10:g.58038124C>T, NC_000019.9:g.58549492C>G, NC_000019.9:g.58549492C>T, NM_182572.4:c.288C>G, NM_182572.4:c.288C>T, NM_182572.3:c.288C>G, NM_182572.3:c.288C>T, XM_006723149.3:c.408C>G, XM_006723149.3:c.408C>T, XM_006723149.2:c.408C>G, XM_006723149.2:c.408C>T, XM_006723149.1:c.408C>G, XM_006723149.1:c.408C>T

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