SNP Links for Protein (Select 224493919) - SNP

Links from Protein

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Select item 14898051681.

rs1489805168 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58088690 (GRCh38)
19:58600057 (GRCh37)
Canonical SPDI:: NC_000019.10:58088689:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58088690G>A, NC_000019.9:g.58600057G>A, XM_005259174.6:c.551C>T, XM_005259174.5:c.551C>T, XM_005259174.4:c.551C>T, XM_005259174.3:c.551C>T, XM_005259174.2:c.551C>T, XM_005259174.1:c.551C>T, NM_023926.5:c.551C>T, NM_023926.4:c.551C>T, XM_011527239.4:c.551C>T, XM_011527239.3:c.551C>T, XM_011527239.2:c.551C>T, XM_011527239.1:c.551C>T, XM_006723335.3:c.551C>T, XM_006723335.2:c.551C>T, XM_006723335.1:c.551C>T, XM_011527237.3:c.719C>T, XM_011527237.2:c.719C>T, XM_011527237.1:c.719C>T, XM_017027169.3:c.551C>T, XM_017027169.2:c.551C>T, XM_017027169.1:c.551C>T, XM_011527238.2:c.551C>T, XM_011527238.1:c.551C>T, NM_001145543.2:c.551C>T, NM_001145543.1:c.551C>T, NM_001145544.2:c.146C>T, NM_001145544.1:c.146C>T, NM_001145542.1:c.719C>T, XP_005259231.1:p.Thr184Ile, NP_076415.3:p.Thr184Ile, XP_011525541.1:p.Thr184Ile, XP_006723398.1:p.Thr184Ile, XP_011525539.1:p.Thr240Ile, XP_016882658.1:p.Thr184Ile, XP_011525540.1:p.Thr184Ile, NP_001139015.1:p.Thr184Ile, NP_001139016.1:p.Thr49Ile, NP_001139014.1:p.Thr240Ile

Select item 14895697772.

rs1489569777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:58085136 (GRCh38)
19:58596503 (GRCh37)
Canonical SPDI:: NC_000019.10:58085135:T:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.58085136T>A, NC_000019.9:g.58596503T>A, XM_005259174.6:c.1082A>T, XM_005259174.5:c.1082A>T, XM_005259174.4:c.1082A>T, XM_005259174.3:c.1082A>T, XM_005259174.2:c.1082A>T, XM_005259174.1:c.1082A>T, NM_023926.5:c.1082A>T, NM_023926.4:c.1082A>T, XM_011527239.4:c.1082A>T, XM_011527239.3:c.1082A>T, XM_011527239.2:c.1082A>T, XM_011527239.1:c.1082A>T, XM_006723335.3:c.1082A>T, XM_006723335.2:c.1082A>T, XM_006723335.1:c.1082A>T, XM_011527237.3:c.1247A>T, XM_011527237.2:c.1247A>T, XM_011527237.1:c.1247A>T, XM_017027169.3:c.1079A>T, XM_017027169.2:c.1079A>T, XM_017027169.1:c.1079A>T, XM_011527238.2:c.1082A>T, XM_011527238.1:c.1082A>T, NM_001145543.2:c.1082A>T, NM_001145543.1:c.1082A>T, NM_001145544.2:c.674A>T, NM_001145544.1:c.674A>T, NM_001145542.1:c.1250A>T, XP_005259231.1:p.Asp361Val, NP_076415.3:p.Asp361Val, XP_011525541.1:p.Asp361Val, XP_006723398.1:p.Asp361Val, XP_011525539.1:p.Asp416Val, XP_016882658.1:p.Asp360Val, XP_011525540.1:p.Asp361Val, NP_001139015.1:p.Asp361Val, NP_001139016.1:p.Asp225Val, NP_001139014.1:p.Asp417Val

Select item 14891683913.

rs1489168391 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58085188 (GRCh38)
19:58596555 (GRCh37)
Canonical SPDI:: NC_000019.10:58085187:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58085188C>T, NC_000019.9:g.58596555C>T, XM_005259174.6:c.1030G>A, XM_005259174.5:c.1030G>A, XM_005259174.4:c.1030G>A, XM_005259174.3:c.1030G>A, XM_005259174.2:c.1030G>A, XM_005259174.1:c.1030G>A, NM_023926.5:c.1030G>A, NM_023926.4:c.1030G>A, XM_011527239.4:c.1030G>A, XM_011527239.3:c.1030G>A, XM_011527239.2:c.1030G>A, XM_011527239.1:c.1030G>A, XM_006723335.3:c.1030G>A, XM_006723335.2:c.1030G>A, XM_006723335.1:c.1030G>A, XM_011527237.3:c.1195G>A, XM_011527237.2:c.1195G>A, XM_011527237.1:c.1195G>A, XM_017027169.3:c.1027G>A, XM_017027169.2:c.1027G>A, XM_017027169.1:c.1027G>A, XM_011527238.2:c.1030G>A, XM_011527238.1:c.1030G>A, NM_001145543.2:c.1030G>A, NM_001145543.1:c.1030G>A, NM_001145544.2:c.622G>A, NM_001145544.1:c.622G>A, NM_001145542.1:c.1198G>A, XP_005259231.1:p.Asp344Asn, NP_076415.3:p.Asp344Asn, XP_011525541.1:p.Asp344Asn, XP_006723398.1:p.Asp344Asn, XP_011525539.1:p.Asp399Asn, XP_016882658.1:p.Asp343Asn, XP_011525540.1:p.Asp344Asn, NP_001139015.1:p.Asp344Asn, NP_001139016.1:p.Asp208Asn, NP_001139014.1:p.Asp400Asn

Select item 14888942074.

rs1488894207 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58085005 (GRCh38)
19:58596372 (GRCh37)
Canonical SPDI:: NC_000019.10:58085004:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58085005G>A, NC_000019.9:g.58596372G>A, XM_005259174.6:c.1213C>T, XM_005259174.5:c.1213C>T, XM_005259174.4:c.1213C>T, XM_005259174.3:c.1213C>T, XM_005259174.2:c.1213C>T, XM_005259174.1:c.1213C>T, NM_023926.5:c.1213C>T, NM_023926.4:c.1213C>T, XM_011527239.4:c.1213C>T, XM_011527239.3:c.1213C>T, XM_011527239.2:c.1213C>T, XM_011527239.1:c.1213C>T, XM_006723335.3:c.1213C>T, XM_006723335.2:c.1213C>T, XM_006723335.1:c.1213C>T, XM_011527237.3:c.1378C>T, XM_011527237.2:c.1378C>T, XM_011527237.1:c.1378C>T, XM_017027169.3:c.1210C>T, XM_017027169.2:c.1210C>T, XM_017027169.1:c.1210C>T, XM_011527238.2:c.1213C>T, XM_011527238.1:c.1213C>T, NM_001145543.2:c.1213C>T, NM_001145543.1:c.1213C>T, NM_001145544.2:c.805C>T, NM_001145544.1:c.805C>T, NM_001145542.1:c.1381C>T, XP_005259231.1:p.Pro405Ser, NP_076415.3:p.Pro405Ser, XP_011525541.1:p.Pro405Ser, XP_006723398.1:p.Pro405Ser, XP_011525539.1:p.Pro460Ser, XP_016882658.1:p.Pro404Ser, XP_011525540.1:p.Pro405Ser, NP_001139015.1:p.Pro405Ser, NP_001139016.1:p.Pro269Ser, NP_001139014.1:p.Pro461Ser

Select item 14862607305.

rs1486260730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:58086947 (GRCh38)
19:58598314 (GRCh37)
Canonical SPDI:: NC_000019.10:58086946:G:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.58086947G>T, NC_000019.9:g.58598314G>T, XM_005259174.6:c.704C>A, XM_005259174.5:c.704C>A, XM_005259174.4:c.704C>A, XM_005259174.3:c.704C>A, XM_005259174.2:c.704C>A, XM_005259174.1:c.704C>A, NM_023926.5:c.704C>A, NM_023926.4:c.704C>A, XM_011527239.4:c.704C>A, XM_011527239.3:c.704C>A, XM_011527239.2:c.704C>A, XM_011527239.1:c.704C>A, XM_006723335.3:c.704C>A, XM_006723335.2:c.704C>A, XM_006723335.1:c.704C>A, XM_011527237.3:c.872C>A, XM_011527237.2:c.872C>A, XM_011527237.1:c.872C>A, XM_017027169.3:c.704C>A, XM_017027169.2:c.704C>A, XM_017027169.1:c.704C>A, XM_011527238.2:c.704C>A, XM_011527238.1:c.704C>A, NM_001145543.2:c.704C>A, NM_001145543.1:c.704C>A, NM_001145544.2:c.299C>A, NM_001145544.1:c.299C>A, NM_001145542.1:c.872C>A, XP_005259231.1:p.Ala235Asp, NP_076415.3:p.Ala235Asp, XP_011525541.1:p.Ala235Asp, XP_006723398.1:p.Ala235Asp, XP_011525539.1:p.Ala291Asp, XP_016882658.1:p.Ala235Asp, XP_011525540.1:p.Ala235Asp, NP_001139015.1:p.Ala235Asp, NP_001139016.1:p.Ala100Asp, NP_001139014.1:p.Ala291Asp

Select item 14836466536.

rs1483646653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:58088750 (GRCh38)
19:58600117 (GRCh37)
Canonical SPDI:: NC_000019.10:58088749:C:G
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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.58088750C>G, NC_000019.9:g.58600117C>G, XM_005259174.6:c.491G>C, XM_005259174.5:c.491G>C, XM_005259174.4:c.491G>C, XM_005259174.3:c.491G>C, XM_005259174.2:c.491G>C, XM_005259174.1:c.491G>C, NM_023926.5:c.491G>C, NM_023926.4:c.491G>C, XM_011527239.4:c.491G>C, XM_011527239.3:c.491G>C, XM_011527239.2:c.491G>C, XM_011527239.1:c.491G>C, XM_006723335.3:c.491G>C, XM_006723335.2:c.491G>C, XM_006723335.1:c.491G>C, XM_011527237.3:c.659G>C, XM_011527237.2:c.659G>C, XM_011527237.1:c.659G>C, XM_017027169.3:c.491G>C, XM_017027169.2:c.491G>C, XM_017027169.1:c.491G>C, XM_011527238.2:c.491G>C, XM_011527238.1:c.491G>C, NM_001145543.2:c.491G>C, NM_001145543.1:c.491G>C, NM_001145544.2:c.86G>C, NM_001145544.1:c.86G>C, NM_001145542.1:c.659G>C, XP_005259231.1:p.Gly164Ala, NP_076415.3:p.Gly164Ala, XP_011525541.1:p.Gly164Ala, XP_006723398.1:p.Gly164Ala, XP_011525539.1:p.Gly220Ala, XP_016882658.1:p.Gly164Ala, XP_011525540.1:p.Gly164Ala, NP_001139015.1:p.Gly164Ala, NP_001139016.1:p.Gly29Ala, NP_001139014.1:p.Gly220Ala

Select item 14834724337.

rs1483472433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58085093 (GRCh38)
19:58596460 (GRCh37)
Canonical SPDI:: NC_000019.10:58085092:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58085093C>T, NC_000019.9:g.58596460C>T, XM_005259174.6:c.1125G>A, XM_005259174.5:c.1125G>A, XM_005259174.4:c.1125G>A, XM_005259174.3:c.1125G>A, XM_005259174.2:c.1125G>A, XM_005259174.1:c.1125G>A, NM_023926.5:c.1125G>A, NM_023926.4:c.1125G>A, XM_011527239.4:c.1125G>A, XM_011527239.3:c.1125G>A, XM_011527239.2:c.1125G>A, XM_011527239.1:c.1125G>A, XM_006723335.3:c.1125G>A, XM_006723335.2:c.1125G>A, XM_006723335.1:c.1125G>A, XM_011527237.3:c.1290G>A, XM_011527237.2:c.1290G>A, XM_011527237.1:c.1290G>A, XM_017027169.3:c.1122G>A, XM_017027169.2:c.1122G>A, XM_017027169.1:c.1122G>A, XM_011527238.2:c.1125G>A, XM_011527238.1:c.1125G>A, NM_001145543.2:c.1125G>A, NM_001145543.1:c.1125G>A, NM_001145544.2:c.717G>A, NM_001145544.1:c.717G>A, NM_001145542.1:c.1293G>A

Select item 14829841998.

rs1482984199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:58084847 (GRCh38)
19:58596214 (GRCh37)
Canonical SPDI:: NC_000019.10:58084846:G:A,NC_000019.10:58084846:G:C
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58084847G>A, NC_000019.10:g.58084847G>C, NC_000019.9:g.58596214G>A, NC_000019.9:g.58596214G>C, XM_005259174.6:c.1371C>T, XM_005259174.6:c.1371C>G, XM_005259174.5:c.1371C>T, XM_005259174.5:c.1371C>G, XM_005259174.4:c.1371C>T, XM_005259174.4:c.1371C>G, XM_005259174.3:c.1371C>T, XM_005259174.3:c.1371C>G, XM_005259174.2:c.1371C>T, XM_005259174.2:c.1371C>G, XM_005259174.1:c.1371C>T, XM_005259174.1:c.1371C>G, NM_023926.5:c.1371C>T, NM_023926.5:c.1371C>G, NM_023926.4:c.1371C>T, NM_023926.4:c.1371C>G, XM_011527239.4:c.1371C>T, XM_011527239.4:c.1371C>G, XM_011527239.3:c.1371C>T, XM_011527239.3:c.1371C>G, XM_011527239.2:c.1371C>T, XM_011527239.2:c.1371C>G, XM_011527239.1:c.1371C>T, XM_011527239.1:c.1371C>G, XM_006723335.3:c.1371C>T, XM_006723335.3:c.1371C>G, XM_006723335.2:c.1371C>T, XM_006723335.2:c.1371C>G, XM_006723335.1:c.1371C>T, XM_006723335.1:c.1371C>G, XM_011527237.3:c.1536C>T, XM_011527237.3:c.1536C>G, XM_011527237.2:c.1536C>T, XM_011527237.2:c.1536C>G, XM_011527237.1:c.1536C>T, XM_011527237.1:c.1536C>G, XM_017027169.3:c.1368C>T, XM_017027169.3:c.1368C>G, XM_017027169.2:c.1368C>T, XM_017027169.2:c.1368C>G, XM_017027169.1:c.1368C>T, XM_017027169.1:c.1368C>G, XM_011527238.2:c.1371C>T, XM_011527238.2:c.1371C>G, XM_011527238.1:c.1371C>T, XM_011527238.1:c.1371C>G, NM_001145543.2:c.1371C>T, NM_001145543.2:c.1371C>G, NM_001145543.1:c.1371C>T, NM_001145543.1:c.1371C>G, NM_001145544.2:c.963C>T, NM_001145544.2:c.963C>G, NM_001145544.1:c.963C>T, NM_001145544.1:c.963C>G, NM_001145542.1:c.1539C>T, NM_001145542.1:c.1539C>G

Select item 14826246759.

rs1482624675 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:58088812 (GRCh38)
19:58600179 (GRCh37)
Canonical SPDI:: NC_000019.10:58088811:G:A,NC_000019.10:58088811:G:C,NC_000019.10:58088811:G:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58088812G>A, NC_000019.10:g.58088812G>C, NC_000019.10:g.58088812G>T, NC_000019.9:g.58600179G>A, NC_000019.9:g.58600179G>C, NC_000019.9:g.58600179G>T, XM_005259174.6:c.429C>T, XM_005259174.6:c.429C>G, XM_005259174.6:c.429C>A, XM_005259174.5:c.429C>T, XM_005259174.5:c.429C>G, XM_005259174.5:c.429C>A, XM_005259174.4:c.429C>T, XM_005259174.4:c.429C>G, XM_005259174.4:c.429C>A, XM_005259174.3:c.429C>T, XM_005259174.3:c.429C>G, XM_005259174.3:c.429C>A, XM_005259174.2:c.429C>T, XM_005259174.2:c.429C>G, XM_005259174.2:c.429C>A, XM_005259174.1:c.429C>T, XM_005259174.1:c.429C>G, XM_005259174.1:c.429C>A, NM_023926.5:c.429C>T, NM_023926.5:c.429C>G, NM_023926.5:c.429C>A, NM_023926.4:c.429C>T, NM_023926.4:c.429C>G, NM_023926.4:c.429C>A, XM_011527239.4:c.429C>T, XM_011527239.4:c.429C>G, XM_011527239.4:c.429C>A, XM_011527239.3:c.429C>T, XM_011527239.3:c.429C>G, XM_011527239.3:c.429C>A, XM_011527239.2:c.429C>T, XM_011527239.2:c.429C>G, XM_011527239.2:c.429C>A, XM_011527239.1:c.429C>T, XM_011527239.1:c.429C>G, XM_011527239.1:c.429C>A, XM_006723335.3:c.429C>T, XM_006723335.3:c.429C>G, XM_006723335.3:c.429C>A, XM_006723335.2:c.429C>T, XM_006723335.2:c.429C>G, XM_006723335.2:c.429C>A, XM_006723335.1:c.429C>T, XM_006723335.1:c.429C>G, XM_006723335.1:c.429C>A, XM_011527237.3:c.597C>T, XM_011527237.3:c.597C>G, XM_011527237.3:c.597C>A, XM_011527237.2:c.597C>T, XM_011527237.2:c.597C>G, XM_011527237.2:c.597C>A, XM_011527237.1:c.597C>T, XM_011527237.1:c.597C>G, XM_011527237.1:c.597C>A, XM_017027169.3:c.429C>T, XM_017027169.3:c.429C>G, XM_017027169.3:c.429C>A, XM_017027169.2:c.429C>T, XM_017027169.2:c.429C>G, XM_017027169.2:c.429C>A, XM_017027169.1:c.429C>T, XM_017027169.1:c.429C>G, XM_017027169.1:c.429C>A, XM_011527238.2:c.429C>T, XM_011527238.2:c.429C>G, XM_011527238.2:c.429C>A, XM_011527238.1:c.429C>T, XM_011527238.1:c.429C>G, XM_011527238.1:c.429C>A, NM_001145543.2:c.429C>T, NM_001145543.2:c.429C>G, NM_001145543.2:c.429C>A, NM_001145543.1:c.429C>T, NM_001145543.1:c.429C>G, NM_001145543.1:c.429C>A, NM_001145544.2:c.24C>T, NM_001145544.2:c.24C>G, NM_001145544.2:c.24C>A, NM_001145544.1:c.24C>T, NM_001145544.1:c.24C>G, NM_001145544.1:c.24C>A, NM_001145542.1:c.597C>T, NM_001145542.1:c.597C>G, NM_001145542.1:c.597C>A

Select item 148151316010.

rs1481513160 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58086265 (GRCh38)
19:58597632 (GRCh37)
Canonical SPDI:: NC_000019.10:58086264:C:G,NC_000019.10:58086264:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.0005/1 (Korea1K)
HGVS:: NC_000019.10:g.58086265C>G, NC_000019.10:g.58086265C>T, NC_000019.9:g.58597632C>G, NC_000019.9:g.58597632C>T, XM_005259174.6:c.747G>C, XM_005259174.6:c.747G>A, XM_005259174.5:c.747G>C, XM_005259174.5:c.747G>A, XM_005259174.4:c.747G>C, XM_005259174.4:c.747G>A, XM_005259174.3:c.747G>C, XM_005259174.3:c.747G>A, XM_005259174.2:c.747G>C, XM_005259174.2:c.747G>A, XM_005259174.1:c.747G>C, XM_005259174.1:c.747G>A, NM_023926.5:c.747G>C, NM_023926.5:c.747G>A, NM_023926.4:c.747G>C, NM_023926.4:c.747G>A, XM_011527239.4:c.747G>C, XM_011527239.4:c.747G>A, XM_011527239.3:c.747G>C, XM_011527239.3:c.747G>A, XM_011527239.2:c.747G>C, XM_011527239.2:c.747G>A, XM_011527239.1:c.747G>C, XM_011527239.1:c.747G>A, XM_006723335.3:c.747G>C, XM_006723335.3:c.747G>A, XM_006723335.2:c.747G>C, XM_006723335.2:c.747G>A, XM_006723335.1:c.747G>C, XM_006723335.1:c.747G>A, XM_011527237.3:c.915G>C, XM_011527237.3:c.915G>A, XM_011527237.2:c.915G>C, XM_011527237.2:c.915G>A, XM_011527237.1:c.915G>C, XM_011527237.1:c.915G>A, XM_017027169.3:c.747G>C, XM_017027169.3:c.747G>A, XM_017027169.2:c.747G>C, XM_017027169.2:c.747G>A, XM_017027169.1:c.747G>C, XM_017027169.1:c.747G>A, XM_011527238.2:c.747G>C, XM_011527238.2:c.747G>A, XM_011527238.1:c.747G>C, XM_011527238.1:c.747G>A, NM_001145543.2:c.747G>C, NM_001145543.2:c.747G>A, NM_001145543.1:c.747G>C, NM_001145543.1:c.747G>A, NM_001145544.2:c.342G>C, NM_001145544.2:c.342G>A, NM_001145544.1:c.342G>C, NM_001145544.1:c.342G>A, NM_001145542.1:c.915G>C, NM_001145542.1:c.915G>A

Select item 148013755211.

rs1480137552 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58084886 (GRCh38)
19:58596253 (GRCh37)
Canonical SPDI:: NC_000019.10:58084885:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_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_000019.10:g.58084886C>T, NC_000019.9:g.58596253C>T, XM_005259174.6:c.1332G>A, XM_005259174.5:c.1332G>A, XM_005259174.4:c.1332G>A, XM_005259174.3:c.1332G>A, XM_005259174.2:c.1332G>A, XM_005259174.1:c.1332G>A, NM_023926.5:c.1332G>A, NM_023926.4:c.1332G>A, XM_011527239.4:c.1332G>A, XM_011527239.3:c.1332G>A, XM_011527239.2:c.1332G>A, XM_011527239.1:c.1332G>A, XM_006723335.3:c.1332G>A, XM_006723335.2:c.1332G>A, XM_006723335.1:c.1332G>A, XM_011527237.3:c.1497G>A, XM_011527237.2:c.1497G>A, XM_011527237.1:c.1497G>A, XM_017027169.3:c.1329G>A, XM_017027169.2:c.1329G>A, XM_017027169.1:c.1329G>A, XM_011527238.2:c.1332G>A, XM_011527238.1:c.1332G>A, NM_001145543.2:c.1332G>A, NM_001145543.1:c.1332G>A, NM_001145544.2:c.924G>A, NM_001145544.1:c.924G>A, NM_001145542.1:c.1500G>A

Select item 147696047112.

rs1476960471 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58084977 (GRCh38)
19:58596344 (GRCh37)
Canonical SPDI:: NC_000019.10:58084976:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.58084977G>A, NC_000019.9:g.58596344G>A, XM_005259174.6:c.1241C>T, XM_005259174.5:c.1241C>T, XM_005259174.4:c.1241C>T, XM_005259174.3:c.1241C>T, XM_005259174.2:c.1241C>T, XM_005259174.1:c.1241C>T, NM_023926.5:c.1241C>T, NM_023926.4:c.1241C>T, XM_011527239.4:c.1241C>T, XM_011527239.3:c.1241C>T, XM_011527239.2:c.1241C>T, XM_011527239.1:c.1241C>T, XM_006723335.3:c.1241C>T, XM_006723335.2:c.1241C>T, XM_006723335.1:c.1241C>T, XM_011527237.3:c.1406C>T, XM_011527237.2:c.1406C>T, XM_011527237.1:c.1406C>T, XM_017027169.3:c.1238C>T, XM_017027169.2:c.1238C>T, XM_017027169.1:c.1238C>T, XM_011527238.2:c.1241C>T, XM_011527238.1:c.1241C>T, NM_001145543.2:c.1241C>T, NM_001145543.1:c.1241C>T, NM_001145544.2:c.833C>T, NM_001145544.1:c.833C>T, NM_001145542.1:c.1409C>T, XP_005259231.1:p.Ala414Val, NP_076415.3:p.Ala414Val, XP_011525541.1:p.Ala414Val, XP_006723398.1:p.Ala414Val, XP_011525539.1:p.Ala469Val, XP_016882658.1:p.Ala413Val, XP_011525540.1:p.Ala414Val, NP_001139015.1:p.Ala414Val, NP_001139016.1:p.Ala278Val, NP_001139014.1:p.Ala470Val

Select item 147399753913.

rs1473997539 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58084976 (GRCh38)
19:58596343 (GRCh37)
Canonical SPDI:: NC_000019.10:58084975:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.58084976G>A, NC_000019.9:g.58596343G>A, XM_005259174.6:c.1242C>T, XM_005259174.5:c.1242C>T, XM_005259174.4:c.1242C>T, XM_005259174.3:c.1242C>T, XM_005259174.2:c.1242C>T, XM_005259174.1:c.1242C>T, NM_023926.5:c.1242C>T, NM_023926.4:c.1242C>T, XM_011527239.4:c.1242C>T, XM_011527239.3:c.1242C>T, XM_011527239.2:c.1242C>T, XM_011527239.1:c.1242C>T, XM_006723335.3:c.1242C>T, XM_006723335.2:c.1242C>T, XM_006723335.1:c.1242C>T, XM_011527237.3:c.1407C>T, XM_011527237.2:c.1407C>T, XM_011527237.1:c.1407C>T, XM_017027169.3:c.1239C>T, XM_017027169.2:c.1239C>T, XM_017027169.1:c.1239C>T, XM_011527238.2:c.1242C>T, XM_011527238.1:c.1242C>T, NM_001145543.2:c.1242C>T, NM_001145543.1:c.1242C>T, NM_001145544.2:c.834C>T, NM_001145544.1:c.834C>T, NM_001145542.1:c.1410C>T

Select item 147313516614.

rs1473135166 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58085198 (GRCh38)
19:58596565 (GRCh37)
Canonical SPDI:: NC_000019.10:58085197:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.58085198G>A, NC_000019.9:g.58596565G>A, XM_005259174.6:c.1020C>T, XM_005259174.5:c.1020C>T, XM_005259174.4:c.1020C>T, XM_005259174.3:c.1020C>T, XM_005259174.2:c.1020C>T, XM_005259174.1:c.1020C>T, NM_023926.5:c.1020C>T, NM_023926.4:c.1020C>T, XM_011527239.4:c.1020C>T, XM_011527239.3:c.1020C>T, XM_011527239.2:c.1020C>T, XM_011527239.1:c.1020C>T, XM_006723335.3:c.1020C>T, XM_006723335.2:c.1020C>T, XM_006723335.1:c.1020C>T, XM_011527237.3:c.1185C>T, XM_011527237.2:c.1185C>T, XM_011527237.1:c.1185C>T, XM_017027169.3:c.1017C>T, XM_017027169.2:c.1017C>T, XM_017027169.1:c.1017C>T, XM_011527238.2:c.1020C>T, XM_011527238.1:c.1020C>T, NM_001145543.2:c.1020C>T, NM_001145543.1:c.1020C>T, NM_001145544.2:c.612C>T, NM_001145544.1:c.612C>T, NM_001145542.1:c.1188C>T

Select item 147203055215.

rs1472030552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:58084996 (GRCh38)
19:58596363 (GRCh37)
Canonical SPDI:: NC_000019.10:58084995:A:G
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.58084996A>G, NC_000019.9:g.58596363A>G, XM_005259174.6:c.1222T>C, XM_005259174.5:c.1222T>C, XM_005259174.4:c.1222T>C, XM_005259174.3:c.1222T>C, XM_005259174.2:c.1222T>C, XM_005259174.1:c.1222T>C, NM_023926.5:c.1222T>C, NM_023926.4:c.1222T>C, XM_011527239.4:c.1222T>C, XM_011527239.3:c.1222T>C, XM_011527239.2:c.1222T>C, XM_011527239.1:c.1222T>C, XM_006723335.3:c.1222T>C, XM_006723335.2:c.1222T>C, XM_006723335.1:c.1222T>C, XM_011527237.3:c.1387T>C, XM_011527237.2:c.1387T>C, XM_011527237.1:c.1387T>C, XM_017027169.3:c.1219T>C, XM_017027169.2:c.1219T>C, XM_017027169.1:c.1219T>C, XM_011527238.2:c.1222T>C, XM_011527238.1:c.1222T>C, NM_001145543.2:c.1222T>C, NM_001145543.1:c.1222T>C, NM_001145544.2:c.814T>C, NM_001145544.1:c.814T>C, NM_001145542.1:c.1390T>C, XP_005259231.1:p.Ser408Pro, NP_076415.3:p.Ser408Pro, XP_011525541.1:p.Ser408Pro, XP_006723398.1:p.Ser408Pro, XP_011525539.1:p.Ser463Pro, XP_016882658.1:p.Ser407Pro, XP_011525540.1:p.Ser408Pro, NP_001139015.1:p.Ser408Pro, NP_001139016.1:p.Ser272Pro, NP_001139014.1:p.Ser464Pro

Select item 146992464716.

rs1469924647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58085246 (GRCh38)
19:58596613 (GRCh37)
Canonical SPDI:: NC_000019.10:58085245:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58085246C>T, NC_000019.9:g.58596613C>T, XM_005259174.6:c.972G>A, XM_005259174.5:c.972G>A, XM_005259174.4:c.972G>A, XM_005259174.3:c.972G>A, XM_005259174.2:c.972G>A, XM_005259174.1:c.972G>A, NM_023926.5:c.972G>A, NM_023926.4:c.972G>A, XM_011527239.4:c.972G>A, XM_011527239.3:c.972G>A, XM_011527239.2:c.972G>A, XM_011527239.1:c.972G>A, XM_006723335.3:c.972G>A, XM_006723335.2:c.972G>A, XM_006723335.1:c.972G>A, XM_011527237.3:c.1137G>A, XM_011527237.2:c.1137G>A, XM_011527237.1:c.1137G>A, XM_017027169.3:c.969G>A, XM_017027169.2:c.969G>A, XM_017027169.1:c.969G>A, XM_011527238.2:c.972G>A, XM_011527238.1:c.972G>A, NM_001145543.2:c.972G>A, NM_001145543.1:c.972G>A, NM_001145544.2:c.564G>A, NM_001145544.1:c.564G>A, NM_001145542.1:c.1140G>A

Select item 146987674017.

rs1469876740 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:58087321 (GRCh38)
19:58598688 (GRCh37)
Canonical SPDI:: NC_000019.10:58087320:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000019.10:g.58087321C>T, NC_000019.9:g.58598688C>T, XM_005259174.6:c.637G>A, XM_005259174.5:c.637G>A, XM_005259174.4:c.637G>A, XM_005259174.3:c.637G>A, XM_005259174.2:c.637G>A, XM_005259174.1:c.637G>A, NM_023926.5:c.637G>A, NM_023926.4:c.637G>A, XM_011527239.4:c.637G>A, XM_011527239.3:c.637G>A, XM_011527239.2:c.637G>A, XM_011527239.1:c.637G>A, XM_006723335.3:c.637G>A, XM_006723335.2:c.637G>A, XM_006723335.1:c.637G>A, XM_011527237.3:c.805G>A, XM_011527237.2:c.805G>A, XM_011527237.1:c.805G>A, XM_017027169.3:c.637G>A, XM_017027169.2:c.637G>A, XM_017027169.1:c.637G>A, XM_011527238.2:c.637G>A, XM_011527238.1:c.637G>A, NM_001145543.2:c.637G>A, NM_001145543.1:c.637G>A, NM_001145544.2:c.232G>A, NM_001145544.1:c.232G>A, NM_001145542.1:c.805G>A, XP_005259231.1:p.Glu213Lys, NP_076415.3:p.Glu213Lys, XP_011525541.1:p.Glu213Lys, XP_006723398.1:p.Glu213Lys, XP_011525539.1:p.Glu269Lys, XP_016882658.1:p.Glu213Lys, XP_011525540.1:p.Glu213Lys, NP_001139015.1:p.Glu213Lys, NP_001139016.1:p.Glu78Lys, NP_001139014.1:p.Glu269Lys

Select item 146595982918.

rs1465959829 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:58086245 (GRCh38)
19:58597612 (GRCh37)
Canonical SPDI:: NC_000019.10:58086244:T:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.58086245T>A, NC_000019.9:g.58597612T>A, XM_005259174.6:c.767A>T, XM_005259174.5:c.767A>T, XM_005259174.4:c.767A>T, XM_005259174.3:c.767A>T, XM_005259174.2:c.767A>T, XM_005259174.1:c.767A>T, NM_023926.5:c.767A>T, NM_023926.4:c.767A>T, XM_011527239.4:c.767A>T, XM_011527239.3:c.767A>T, XM_011527239.2:c.767A>T, XM_011527239.1:c.767A>T, XM_006723335.3:c.767A>T, XM_006723335.2:c.767A>T, XM_006723335.1:c.767A>T, XM_011527237.3:c.935A>T, XM_011527237.2:c.935A>T, XM_011527237.1:c.935A>T, XM_017027169.3:c.767A>T, XM_017027169.2:c.767A>T, XM_017027169.1:c.767A>T, XM_011527238.2:c.767A>T, XM_011527238.1:c.767A>T, NM_001145543.2:c.767A>T, NM_001145543.1:c.767A>T, NM_001145544.2:c.362A>T, NM_001145544.1:c.362A>T, NM_001145542.1:c.935A>T, XP_005259231.1:p.Asp256Val, NP_076415.3:p.Asp256Val, XP_011525541.1:p.Asp256Val, XP_006723398.1:p.Asp256Val, XP_011525539.1:p.Asp312Val, XP_016882658.1:p.Asp256Val, XP_011525540.1:p.Asp256Val, NP_001139015.1:p.Asp256Val, NP_001139016.1:p.Asp121Val, NP_001139014.1:p.Asp312Val

Select item 146005464819.

rs1460054648 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:58087368 (GRCh38)
19:58598735 (GRCh37)
Canonical SPDI:: NC_000019.10:58087367:C:G,NC_000019.10:58087367:C:T
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.58087368C>G, NC_000019.10:g.58087368C>T, NC_000019.9:g.58598735C>G, NC_000019.9:g.58598735C>T, XM_005259174.6:c.590G>C, XM_005259174.6:c.590G>A, XM_005259174.5:c.590G>C, XM_005259174.5:c.590G>A, XM_005259174.4:c.590G>C, XM_005259174.4:c.590G>A, XM_005259174.3:c.590G>C, XM_005259174.3:c.590G>A, XM_005259174.2:c.590G>C, XM_005259174.2:c.590G>A, XM_005259174.1:c.590G>C, XM_005259174.1:c.590G>A, NM_023926.5:c.590G>C, NM_023926.5:c.590G>A, NM_023926.4:c.590G>C, NM_023926.4:c.590G>A, XM_011527239.4:c.590G>C, XM_011527239.4:c.590G>A, XM_011527239.3:c.590G>C, XM_011527239.3:c.590G>A, XM_011527239.2:c.590G>C, XM_011527239.2:c.590G>A, XM_011527239.1:c.590G>C, XM_011527239.1:c.590G>A, XM_006723335.3:c.590G>C, XM_006723335.3:c.590G>A, XM_006723335.2:c.590G>C, XM_006723335.2:c.590G>A, XM_006723335.1:c.590G>C, XM_006723335.1:c.590G>A, XM_011527237.3:c.758G>C, XM_011527237.3:c.758G>A, XM_011527237.2:c.758G>C, XM_011527237.2:c.758G>A, XM_011527237.1:c.758G>C, XM_011527237.1:c.758G>A, XM_017027169.3:c.590G>C, XM_017027169.3:c.590G>A, XM_017027169.2:c.590G>C, XM_017027169.2:c.590G>A, XM_017027169.1:c.590G>C, XM_017027169.1:c.590G>A, XM_011527238.2:c.590G>C, XM_011527238.2:c.590G>A, XM_011527238.1:c.590G>C, XM_011527238.1:c.590G>A, NM_001145543.2:c.590G>C, NM_001145543.2:c.590G>A, NM_001145543.1:c.590G>C, NM_001145543.1:c.590G>A, NM_001145544.2:c.185G>C, NM_001145544.2:c.185G>A, NM_001145544.1:c.185G>C, NM_001145544.1:c.185G>A, NM_001145542.1:c.758G>C, NM_001145542.1:c.758G>A, XP_005259231.1:p.Arg197Thr, XP_005259231.1:p.Arg197Lys, NP_076415.3:p.Arg197Thr, NP_076415.3:p.Arg197Lys, XP_011525541.1:p.Arg197Thr, XP_011525541.1:p.Arg197Lys, XP_006723398.1:p.Arg197Thr, XP_006723398.1:p.Arg197Lys, XP_011525539.1:p.Arg253Thr, XP_011525539.1:p.Arg253Lys, XP_016882658.1:p.Arg197Thr, XP_016882658.1:p.Arg197Lys, XP_011525540.1:p.Arg197Thr, XP_011525540.1:p.Arg197Lys, NP_001139015.1:p.Arg197Thr, NP_001139015.1:p.Arg197Lys, NP_001139016.1:p.Arg62Thr, NP_001139016.1:p.Arg62Lys, NP_001139014.1:p.Arg253Thr, NP_001139014.1:p.Arg253Lys

Select item 145860053020.

rs1458600530 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:58084983 (GRCh38)
19:58596350 (GRCh37)
Canonical SPDI:: NC_000019.10:58084982:G:A
Gene:: ZSCAN18 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.58084983G>A, NC_000019.9:g.58596350G>A, XM_005259174.6:c.1235C>T, XM_005259174.5:c.1235C>T, XM_005259174.4:c.1235C>T, XM_005259174.3:c.1235C>T, XM_005259174.2:c.1235C>T, XM_005259174.1:c.1235C>T, NM_023926.5:c.1235C>T, NM_023926.4:c.1235C>T, XM_011527239.4:c.1235C>T, XM_011527239.3:c.1235C>T, XM_011527239.2:c.1235C>T, XM_011527239.1:c.1235C>T, XM_006723335.3:c.1235C>T, XM_006723335.2:c.1235C>T, XM_006723335.1:c.1235C>T, XM_011527237.3:c.1400C>T, XM_011527237.2:c.1400C>T, XM_011527237.1:c.1400C>T, XM_017027169.3:c.1232C>T, XM_017027169.2:c.1232C>T, XM_017027169.1:c.1232C>T, XM_011527238.2:c.1235C>T, XM_011527238.1:c.1235C>T, NM_001145543.2:c.1235C>T, NM_001145543.1:c.1235C>T, NM_001145544.2:c.827C>T, NM_001145544.1:c.827C>T, NM_001145542.1:c.1403C>T, XP_005259231.1:p.Pro412Leu, NP_076415.3:p.Pro412Leu, XP_011525541.1:p.Pro412Leu, XP_006723398.1:p.Pro412Leu, XP_011525539.1:p.Pro467Leu, XP_016882658.1:p.Pro411Leu, XP_011525540.1:p.Pro412Leu, NP_001139015.1:p.Pro412Leu, NP_001139016.1:p.Pro276Leu, NP_001139014.1:p.Pro468Leu

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