SNP Links for Protein (Select 1034664860) - SNP

Links from Protein

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Select item 14897688741.

rs1489768874 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:120864057 (GRCh38)
9:123626335 (GRCh37)
Canonical SPDI:: NC_000009.12:120864056:A:G
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_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_000009.12:g.120864057A>G, NC_000009.11:g.123626335A>G, XM_011518509.4:c.960T>C, XM_011518509.3:c.960T>C, XM_011518509.2:c.960T>C, XM_011518509.1:c.960T>C, XM_005251906.4:c.1137T>C, XM_005251906.3:c.960T>C, XM_005251906.2:c.960T>C, XM_005251906.1:c.960T>C, XM_017014612.3:c.960T>C, XM_017014612.2:c.960T>C, XM_017014612.1:c.960T>C, NM_015651.3:c.960T>C, NM_015651.2:c.960T>C, NM_015651.1:c.960T>C, XM_011518515.3:c.1017T>C, XM_011518515.2:c.1017T>C, XM_011518515.1:c.1017T>C, XM_011518516.3:c.1017T>C, XM_011518516.2:c.1017T>C, XM_011518516.1:c.1017T>C, XM_024447507.2:c.441T>C, XM_024447507.1:c.441T>C, NM_001286840.1:c.1017T>C, XM_047423211.1:c.441T>C, NM_001286842.1:c.333T>C, NR_104601.1:n.450T>C, XM_047423210.1:c.1017T>C

Select item 14883918422.

rs1488391842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120869881 (GRCh38)
9:123632159 (GRCh37)
Canonical SPDI:: NC_000009.12:120869880:C:T
Gene:: PHF19 (Varview)
Functional Consequence:: 3_prime_UTR_variant,5_prime_UTR_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,stop_gained
HGVS:: NC_000009.12:g.120869881C>T, NC_000009.11:g.123632159C>T, XM_011518509.4:c.429G>A, XM_011518509.3:c.429G>A, XM_011518509.2:c.429G>A, XM_011518509.1:c.429G>A, XM_005251906.4:c.606G>A, XM_005251906.3:c.429G>A, XM_005251906.2:c.429G>A, XM_005251906.1:c.429G>A, XM_017014612.3:c.429G>A, XM_017014612.2:c.429G>A, XM_017014612.1:c.429G>A, NM_015651.3:c.429G>A, NM_015651.2:c.429G>A, NM_015651.1:c.429G>A, XM_011518515.3:c.486G>A, XM_011518515.2:c.486G>A, XM_011518515.1:c.486G>A, XM_011518516.3:c.486G>A, XM_011518516.2:c.486G>A, XM_011518516.1:c.486G>A, NM_001009936.3:c.429G>A, NM_001009936.2:c.429G>A, NM_001009936.1:c.429G>A, NM_001286843.2:c.*22G>A, NM_001286843.1:c.*22G>A, NM_001286840.1:c.486G>A, XM_047423211.1:c.-91G>A, XM_047423210.1:c.486G>A, XP_011516811.1:p.Trp143Ter, XP_005251963.2:p.Trp202Ter, XP_016870101.1:p.Trp143Ter, NP_056466.1:p.Trp143Ter, XP_011516817.1:p.Trp162Ter, XP_011516818.1:p.Trp162Ter, NP_001009936.1:p.Trp143Ter, NP_001273769.1:p.Trp162Ter, XP_047279166.1:p.Trp162Ter

Select item 14878517433.

rs1487851743 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120861961 (GRCh38)
9:123624239 (GRCh37)
Canonical SPDI:: NC_000009.12:120861960:C:T
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.120861961C>T, NC_000009.11:g.123624239C>T, XM_011518509.4:c.1175G>A, XM_011518509.3:c.1175G>A, XM_011518509.2:c.1175G>A, XM_011518509.1:c.1175G>A, XM_005251906.4:c.1352G>A, XM_005251906.3:c.1175G>A, XM_005251906.2:c.1175G>A, XM_005251906.1:c.1175G>A, XM_017014612.3:c.1175G>A, XM_017014612.2:c.1175G>A, XM_017014612.1:c.1175G>A, NM_015651.3:c.1175G>A, NM_015651.2:c.1175G>A, NM_015651.1:c.1175G>A, XM_024447507.2:c.656G>A, XM_024447507.1:c.656G>A, NM_001286840.1:c.1232G>A, XM_047423211.1:c.656G>A, NM_001286842.1:c.548G>A, XM_047423210.1:c.1207G>A, XP_011516811.1:p.Arg392Lys, XP_005251963.2:p.Arg451Lys, XP_016870101.1:p.Arg392Lys, NP_056466.1:p.Arg392Lys, XP_024303275.1:p.Arg219Lys, NP_001273769.1:p.Arg411Lys, XP_047279167.1:p.Arg219Lys, NP_001273771.1:p.Arg183Lys, XP_047279166.1:p.Glu403Lys

Select item 14877341694.

rs1487734169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:120874676 (GRCh38)
9:123636954 (GRCh37)
Canonical SPDI:: NC_000009.12:120874675:G:T
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120874676G>T, NC_000009.11:g.123636954G>T, XM_011518509.4:c.66C>A, XM_011518509.3:c.66C>A, XM_011518509.2:c.66C>A, XM_011518509.1:c.66C>A, XM_005251906.4:c.243C>A, XM_005251906.3:c.66C>A, XM_005251906.2:c.66C>A, XM_005251906.1:c.66C>A, XM_017014612.3:c.66C>A, XM_017014612.2:c.66C>A, XM_017014612.1:c.66C>A, NM_015651.3:c.66C>A, NM_015651.2:c.66C>A, NM_015651.1:c.66C>A, XM_011518515.3:c.123C>A, XM_011518515.2:c.123C>A, XM_011518515.1:c.123C>A, XM_011518516.3:c.123C>A, XM_011518516.2:c.123C>A, XM_011518516.1:c.123C>A, NM_001009936.3:c.66C>A, NM_001009936.2:c.66C>A, NM_001009936.1:c.66C>A, NM_001286843.2:c.66C>A, NM_001286843.1:c.66C>A, NM_001286840.1:c.123C>A, XM_047423210.1:c.123C>A, XP_011516811.1:p.Asn22Lys, XP_005251963.2:p.Asn81Lys, XP_016870101.1:p.Asn22Lys, NP_056466.1:p.Asn22Lys, XP_011516817.1:p.Asn41Lys, XP_011516818.1:p.Asn41Lys, NP_001009936.1:p.Asn22Lys, NP_001273772.1:p.Asn22Lys, NP_001273769.1:p.Asn41Lys, XP_047279166.1:p.Asn41Lys

Select item 14859715095.

rs1485971509 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120858080 (GRCh38)
9:123620358 (GRCh37)
Canonical SPDI:: NC_000009.12:120858079:T:C
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120858080T>C, NC_000009.11:g.123620358T>C, XM_011518509.4:c.1607A>G, XM_011518509.3:c.1607A>G, XM_011518509.2:c.1607A>G, XM_011518509.1:c.1607A>G, XM_005251906.4:c.1784A>G, XM_005251906.3:c.1607A>G, XM_005251906.2:c.1607A>G, XM_005251906.1:c.1607A>G, XM_017014612.3:c.1607A>G, XM_017014612.2:c.1607A>G, XM_017014612.1:c.1607A>G, NM_015651.3:c.1607A>G, NM_015651.2:c.1607A>G, NM_015651.1:c.1607A>G, XM_024447507.2:c.1088A>G, XM_024447507.1:c.1088A>G, NM_001286840.1:c.1664A>G, XM_047423211.1:c.1088A>G, NM_001286842.1:c.980A>G, NR_104601.1:n.1009A>G, XP_011516811.1:p.Lys536Arg, XP_005251963.2:p.Lys595Arg, XP_016870101.1:p.Lys536Arg, NP_056466.1:p.Lys536Arg, XP_024303275.1:p.Lys363Arg, NP_001273769.1:p.Lys555Arg, XP_047279167.1:p.Lys363Arg, NP_001273771.1:p.Lys327Arg

Select item 14842782896.

rs1484278289 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120866965 (GRCh38)
9:123629243 (GRCh37)
Canonical SPDI:: NC_000009.12:120866964:T:C
Gene:: PHF19 (Varview)
Functional Consequence:: 5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,genic_downstream_transcript_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_000009.12:g.120866965T>C, NC_000009.11:g.123629243T>C, XM_011518509.4:c.615A>G, XM_011518509.3:c.615A>G, XM_011518509.2:c.615A>G, XM_011518509.1:c.615A>G, XM_005251906.4:c.792A>G, XM_005251906.3:c.615A>G, XM_005251906.2:c.615A>G, XM_005251906.1:c.615A>G, XM_017014612.3:c.615A>G, XM_017014612.2:c.615A>G, XM_017014612.1:c.615A>G, NM_015651.3:c.615A>G, NM_015651.2:c.615A>G, NM_015651.1:c.615A>G, XM_011518515.3:c.672A>G, XM_011518515.2:c.672A>G, XM_011518515.1:c.672A>G, XM_011518516.3:c.672A>G, XM_011518516.2:c.672A>G, XM_011518516.1:c.672A>G, XM_024447507.2:c.96A>G, XM_024447507.1:c.96A>G, NM_001286840.1:c.672A>G, XM_047423211.1:c.96A>G, NM_001286842.1:c.-13A>G, NR_104601.1:n.105A>G, XM_047423210.1:c.672A>G

Select item 14838730517.

rs1483873051 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120874617 (GRCh38)
9:123636895 (GRCh37)
Canonical SPDI:: NC_000009.12:120874616:T:C
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.120874617T>C, NC_000009.11:g.123636895T>C, XM_011518509.4:c.125A>G, XM_011518509.3:c.125A>G, XM_011518509.2:c.125A>G, XM_011518509.1:c.125A>G, XM_005251906.4:c.302A>G, XM_005251906.3:c.125A>G, XM_005251906.2:c.125A>G, XM_005251906.1:c.125A>G, XM_017014612.3:c.125A>G, XM_017014612.2:c.125A>G, XM_017014612.1:c.125A>G, NM_015651.3:c.125A>G, NM_015651.2:c.125A>G, NM_015651.1:c.125A>G, XM_011518515.3:c.182A>G, XM_011518515.2:c.182A>G, XM_011518515.1:c.182A>G, XM_011518516.3:c.182A>G, XM_011518516.2:c.182A>G, XM_011518516.1:c.182A>G, NM_001009936.3:c.125A>G, NM_001009936.2:c.125A>G, NM_001009936.1:c.125A>G, NM_001286843.2:c.125A>G, NM_001286843.1:c.125A>G, NM_001286840.1:c.182A>G, XM_047423210.1:c.182A>G, XP_011516811.1:p.Glu42Gly, XP_005251963.2:p.Glu101Gly, XP_016870101.1:p.Glu42Gly, NP_056466.1:p.Glu42Gly, XP_011516817.1:p.Glu61Gly, XP_011516818.1:p.Glu61Gly, NP_001009936.1:p.Glu42Gly, NP_001273772.1:p.Glu42Gly, NP_001273769.1:p.Glu61Gly, XP_047279166.1:p.Glu61Gly

Select item 14794402798.

rs1479440279 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120862661 (GRCh38)
9:123624939 (GRCh37)
Canonical SPDI:: NC_000009.12:120862660:G:A
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.120862661G>A, NC_000009.11:g.123624939G>A, XM_011518509.4:c.1057C>T, XM_011518509.3:c.1057C>T, XM_011518509.2:c.1057C>T, XM_011518509.1:c.1057C>T, XM_005251906.4:c.1234C>T, XM_005251906.3:c.1057C>T, XM_005251906.2:c.1057C>T, XM_005251906.1:c.1057C>T, XM_017014612.3:c.1057C>T, XM_017014612.2:c.1057C>T, XM_017014612.1:c.1057C>T, NM_015651.3:c.1057C>T, NM_015651.2:c.1057C>T, NM_015651.1:c.1057C>T, XM_011518515.3:c.1114C>T, XM_011518515.2:c.1114C>T, XM_011518515.1:c.1114C>T, XM_011518516.3:c.1114C>T, XM_011518516.2:c.1114C>T, XM_011518516.1:c.1114C>T, XM_024447507.2:c.538C>T, XM_024447507.1:c.538C>T, NM_001286840.1:c.1114C>T, XM_047423211.1:c.538C>T, NM_001286842.1:c.430C>T, NR_104601.1:n.547C>T, XM_047423210.1:c.1114C>T, XP_011516811.1:p.Pro353Ser, XP_005251963.2:p.Pro412Ser, XP_016870101.1:p.Pro353Ser, NP_056466.1:p.Pro353Ser, XP_011516817.1:p.Pro372Ser, XP_011516818.1:p.Pro372Ser, XP_024303275.1:p.Pro180Ser, NP_001273769.1:p.Pro372Ser, XP_047279167.1:p.Pro180Ser, NP_001273771.1:p.Pro144Ser, XP_047279166.1:p.Pro372Ser

Select item 14779242079.

rs1477924207 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120866067 (GRCh38)
9:123628345 (GRCh37)
Canonical SPDI:: NC_000009.12:120866066:T:C
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120866067T>C, NC_000009.11:g.123628345T>C, XM_011518509.4:c.740A>G, XM_011518509.3:c.740A>G, XM_011518509.2:c.740A>G, XM_011518509.1:c.740A>G, XM_005251906.4:c.917A>G, XM_005251906.3:c.740A>G, XM_005251906.2:c.740A>G, XM_005251906.1:c.740A>G, XM_017014612.3:c.740A>G, XM_017014612.2:c.740A>G, XM_017014612.1:c.740A>G, NM_015651.3:c.740A>G, NM_015651.2:c.740A>G, NM_015651.1:c.740A>G, XM_011518515.3:c.797A>G, XM_011518515.2:c.797A>G, XM_011518515.1:c.797A>G, XM_011518516.3:c.797A>G, XM_011518516.2:c.797A>G, XM_011518516.1:c.797A>G, XM_024447507.2:c.221A>G, XM_024447507.1:c.221A>G, NM_001286840.1:c.797A>G, XM_047423211.1:c.221A>G, NM_001286842.1:c.113A>G, NR_104601.1:n.230A>G, XM_047423210.1:c.797A>G, XP_011516811.1:p.Asn247Ser, XP_005251963.2:p.Asn306Ser, XP_016870101.1:p.Asn247Ser, NP_056466.1:p.Asn247Ser, XP_011516817.1:p.Asn266Ser, XP_011516818.1:p.Asn266Ser, XP_024303275.1:p.Asn74Ser, NP_001273769.1:p.Asn266Ser, XP_047279167.1:p.Asn74Ser, NP_001273771.1:p.Asn38Ser, XP_047279166.1:p.Asn266Ser

Select item 147790149110.

rs1477901491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120874662 (GRCh38)
9:123636940 (GRCh37)
Canonical SPDI:: NC_000009.12:120874661:G:A
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000034/9 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.120874662G>A, NC_000009.11:g.123636940G>A, XM_011518509.4:c.80C>T, XM_011518509.3:c.80C>T, XM_011518509.2:c.80C>T, XM_011518509.1:c.80C>T, XM_005251906.4:c.257C>T, XM_005251906.3:c.80C>T, XM_005251906.2:c.80C>T, XM_005251906.1:c.80C>T, XM_017014612.3:c.80C>T, XM_017014612.2:c.80C>T, XM_017014612.1:c.80C>T, NM_015651.3:c.80C>T, NM_015651.2:c.80C>T, NM_015651.1:c.80C>T, XM_011518515.3:c.137C>T, XM_011518515.2:c.137C>T, XM_011518515.1:c.137C>T, XM_011518516.3:c.137C>T, XM_011518516.2:c.137C>T, XM_011518516.1:c.137C>T, NM_001009936.3:c.80C>T, NM_001009936.2:c.80C>T, NM_001009936.1:c.80C>T, NM_001286843.2:c.80C>T, NM_001286843.1:c.80C>T, NM_001286840.1:c.137C>T, XM_047423210.1:c.137C>T, XP_011516811.1:p.Ala27Val, XP_005251963.2:p.Ala86Val, XP_016870101.1:p.Ala27Val, NP_056466.1:p.Ala27Val, XP_011516817.1:p.Ala46Val, XP_011516818.1:p.Ala46Val, NP_001009936.1:p.Ala27Val, NP_001273772.1:p.Ala27Val, NP_001273769.1:p.Ala46Val, XP_047279166.1:p.Ala46Val

Select item 147699376911.

rs1476993769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:120870467 (GRCh38)
9:123632745 (GRCh37)
Canonical SPDI:: NC_000009.12:120870466:G:A,NC_000009.12:120870466:G:C
Gene:: PHF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.120870467G>A, NC_000009.12:g.120870467G>C, NC_000009.11:g.123632745G>A, NC_000009.11:g.123632745G>C, XM_011518509.4:c.340C>T, XM_011518509.4:c.340C>G, XM_011518509.3:c.340C>T, XM_011518509.3:c.340C>G, XM_011518509.2:c.340C>T, XM_011518509.2:c.340C>G, XM_011518509.1:c.340C>T, XM_011518509.1:c.340C>G, XM_005251906.4:c.517C>T, XM_005251906.4:c.517C>G, XM_005251906.3:c.340C>T, XM_005251906.3:c.340C>G, XM_005251906.2:c.340C>T, XM_005251906.2:c.340C>G, XM_005251906.1:c.340C>T, XM_005251906.1:c.340C>G, XM_017014612.3:c.340C>T, XM_017014612.3:c.340C>G, XM_017014612.2:c.340C>T, XM_017014612.2:c.340C>G, XM_017014612.1:c.340C>T, XM_017014612.1:c.340C>G, NM_015651.3:c.340C>T, NM_015651.3:c.340C>G, NM_015651.2:c.340C>T, NM_015651.2:c.340C>G, NM_015651.1:c.340C>T, NM_015651.1:c.340C>G, XM_011518515.3:c.397C>T, XM_011518515.3:c.397C>G, XM_011518515.2:c.397C>T, XM_011518515.2:c.397C>G, XM_011518515.1:c.397C>T, XM_011518515.1:c.397C>G, XM_011518516.3:c.397C>T, XM_011518516.3:c.397C>G, XM_011518516.2:c.397C>T, XM_011518516.2:c.397C>G, XM_011518516.1:c.397C>T, XM_011518516.1:c.397C>G, NM_001009936.3:c.340C>T, NM_001009936.3:c.340C>G, NM_001009936.2:c.340C>T, NM_001009936.2:c.340C>G, NM_001009936.1:c.340C>T, NM_001009936.1:c.340C>G, NM_001286843.2:c.340C>T, NM_001286843.2:c.340C>G, NM_001286843.1:c.340C>T, NM_001286843.1:c.340C>G, NM_001286840.1:c.397C>T, NM_001286840.1:c.397C>G, XM_047423211.1:c.-180C>T, XM_047423211.1:c.-180C>G, XM_047423210.1:c.397C>T, XM_047423210.1:c.397C>G, XP_011516811.1:p.Leu114Phe, XP_011516811.1:p.Leu114Val, XP_005251963.2:p.Leu173Phe, XP_005251963.2:p.Leu173Val, XP_016870101.1:p.Leu114Phe, XP_016870101.1:p.Leu114Val, NP_056466.1:p.Leu114Phe, NP_056466.1:p.Leu114Val, XP_011516817.1:p.Leu133Phe, XP_011516817.1:p.Leu133Val, XP_011516818.1:p.Leu133Phe, XP_011516818.1:p.Leu133Val, NP_001009936.1:p.Leu114Phe, NP_001009936.1:p.Leu114Val, NP_001273772.1:p.Leu114Phe, NP_001273772.1:p.Leu114Val, NP_001273769.1:p.Leu133Phe, NP_001273769.1:p.Leu133Val, XP_047279166.1:p.Leu133Phe, XP_047279166.1:p.Leu133Val

Select item 147651088812.

rs1476510888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120858105 (GRCh38)
9:123620383 (GRCh37)
Canonical SPDI:: NC_000009.12:120858104:C:T
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120858105C>T, NC_000009.11:g.123620383C>T, XM_011518509.4:c.1582G>A, XM_011518509.3:c.1582G>A, XM_011518509.2:c.1582G>A, XM_011518509.1:c.1582G>A, XM_005251906.4:c.1759G>A, XM_005251906.3:c.1582G>A, XM_005251906.2:c.1582G>A, XM_005251906.1:c.1582G>A, XM_017014612.3:c.1582G>A, XM_017014612.2:c.1582G>A, XM_017014612.1:c.1582G>A, NM_015651.3:c.1582G>A, NM_015651.2:c.1582G>A, NM_015651.1:c.1582G>A, XM_024447507.2:c.1063G>A, XM_024447507.1:c.1063G>A, NM_001286840.1:c.1639G>A, XM_047423211.1:c.1063G>A, NM_001286842.1:c.955G>A, NR_104601.1:n.984G>A, XP_011516811.1:p.Asp528Asn, XP_005251963.2:p.Asp587Asn, XP_016870101.1:p.Asp528Asn, NP_056466.1:p.Asp528Asn, XP_024303275.1:p.Asp355Asn, NP_001273769.1:p.Asp547Asn, XP_047279167.1:p.Asp355Asn, NP_001273771.1:p.Asp319Asn

Select item 147564337713.

rs1475643377 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:120860170 (GRCh38)
9:123622448 (GRCh37)
Canonical SPDI:: NC_000009.12:120860169:C:G
Gene:: PHF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120860170C>G, NC_000009.11:g.123622448C>G, XM_011518509.4:c.1320G>C, XM_011518509.3:c.1320G>C, XM_011518509.2:c.1320G>C, XM_011518509.1:c.1320G>C, XM_005251906.4:c.1497G>C, XM_005251906.3:c.1320G>C, XM_005251906.2:c.1320G>C, XM_005251906.1:c.1320G>C, XM_017014612.3:c.1320G>C, XM_017014612.2:c.1320G>C, XM_017014612.1:c.1320G>C, NM_015651.3:c.1320G>C, NM_015651.2:c.1320G>C, NM_015651.1:c.1320G>C, XM_011518515.3:c.*20G>C, XM_011518515.2:c.*20G>C, XM_011518515.1:c.*20G>C, XM_024447507.2:c.801G>C, XM_024447507.1:c.801G>C, NM_001286840.1:c.1377G>C, XM_047423211.1:c.801G>C, NM_001286842.1:c.693G>C, NR_104601.1:n.722G>C, XM_047423210.1:c.*20G>C, XP_011516811.1:p.Gln440His, XP_005251963.2:p.Gln499His, XP_016870101.1:p.Gln440His, NP_056466.1:p.Gln440His, XP_024303275.1:p.Gln267His, NP_001273769.1:p.Gln459His, XP_047279167.1:p.Gln267His, NP_001273771.1:p.Gln231His

Select item 147503469614.

rs1475034696 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120869295 (GRCh38)
9:123631573 (GRCh37)
Canonical SPDI:: NC_000009.12:120869294:C:T
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,downstream_transcript_variant,synonymous_variant,genic_downstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000009.12:g.120869295C>T, NC_000009.11:g.123631573C>T, XM_011518509.4:c.501G>A, XM_011518509.3:c.501G>A, XM_011518509.2:c.501G>A, XM_011518509.1:c.501G>A, XM_005251906.4:c.678G>A, XM_005251906.3:c.501G>A, XM_005251906.2:c.501G>A, XM_005251906.1:c.501G>A, XM_017014612.3:c.501G>A, XM_017014612.2:c.501G>A, XM_017014612.1:c.501G>A, NM_015651.3:c.501G>A, NM_015651.2:c.501G>A, NM_015651.1:c.501G>A, XM_011518515.3:c.558G>A, XM_011518515.2:c.558G>A, XM_011518515.1:c.558G>A, XM_011518516.3:c.558G>A, XM_011518516.2:c.558G>A, XM_011518516.1:c.558G>A, XM_024447507.2:c.-19G>A, XM_024447507.1:c.-19G>A, NM_001286840.1:c.558G>A, XM_047423211.1:c.-19G>A, XM_047423210.1:c.558G>A

Select item 147246946115.

rs1472469461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:120860154 (GRCh38)
9:123622432 (GRCh37)
Canonical SPDI:: NC_000009.12:120860153:C:T
Gene:: PHF19 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.120860154C>T, NC_000009.11:g.123622432C>T, XM_011518509.4:c.1336G>A, XM_011518509.3:c.1336G>A, XM_011518509.2:c.1336G>A, XM_011518509.1:c.1336G>A, XM_005251906.4:c.1513G>A, XM_005251906.3:c.1336G>A, XM_005251906.2:c.1336G>A, XM_005251906.1:c.1336G>A, XM_017014612.3:c.1336G>A, XM_017014612.2:c.1336G>A, XM_017014612.1:c.1336G>A, NM_015651.3:c.1336G>A, NM_015651.2:c.1336G>A, NM_015651.1:c.1336G>A, XM_011518515.3:c.*36G>A, XM_011518515.2:c.*36G>A, XM_011518515.1:c.*36G>A, XM_024447507.2:c.817G>A, XM_024447507.1:c.817G>A, NM_001286840.1:c.1393G>A, XM_047423211.1:c.817G>A, NM_001286842.1:c.709G>A, NR_104601.1:n.738G>A, XM_047423210.1:c.*36G>A, XP_011516811.1:p.Val446Ile, XP_005251963.2:p.Val505Ile, XP_016870101.1:p.Val446Ile, NP_056466.1:p.Val446Ile, XP_024303275.1:p.Val273Ile, NP_001273769.1:p.Val465Ile, XP_047279167.1:p.Val273Ile, NP_001273771.1:p.Val237Ile

Select item 147182857116.

rs1471828571 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:120858124 (GRCh38)
9:123620402 (GRCh37)
Canonical SPDI:: NC_000009.12:120858123:T:C
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120858124T>C, NC_000009.11:g.123620402T>C, XM_011518509.4:c.1563A>G, XM_011518509.3:c.1563A>G, XM_011518509.2:c.1563A>G, XM_011518509.1:c.1563A>G, XM_005251906.4:c.1740A>G, XM_005251906.3:c.1563A>G, XM_005251906.2:c.1563A>G, XM_005251906.1:c.1563A>G, XM_017014612.3:c.1563A>G, XM_017014612.2:c.1563A>G, XM_017014612.1:c.1563A>G, NM_015651.3:c.1563A>G, NM_015651.2:c.1563A>G, NM_015651.1:c.1563A>G, XM_024447507.2:c.1044A>G, XM_024447507.1:c.1044A>G, NM_001286840.1:c.1620A>G, XM_047423211.1:c.1044A>G, NM_001286842.1:c.936A>G, NR_104601.1:n.965A>G

Select item 147032551417.

rs1470325514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:120865804 (GRCh38)
9:123628082 (GRCh37)
Canonical SPDI:: NC_000009.12:120865803:T:C,NC_000009.12:120865803:T:G
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.120865804T>C, NC_000009.12:g.120865804T>G, NC_000009.11:g.123628082T>C, NC_000009.11:g.123628082T>G, XM_011518509.4:c.806A>G, XM_011518509.4:c.806A>C, XM_011518509.3:c.806A>G, XM_011518509.3:c.806A>C, XM_011518509.2:c.806A>G, XM_011518509.2:c.806A>C, XM_011518509.1:c.806A>G, XM_011518509.1:c.806A>C, XM_005251906.4:c.983A>G, XM_005251906.4:c.983A>C, XM_005251906.3:c.806A>G, XM_005251906.3:c.806A>C, XM_005251906.2:c.806A>G, XM_005251906.2:c.806A>C, XM_005251906.1:c.806A>G, XM_005251906.1:c.806A>C, XM_017014612.3:c.806A>G, XM_017014612.3:c.806A>C, XM_017014612.2:c.806A>G, XM_017014612.2:c.806A>C, XM_017014612.1:c.806A>G, XM_017014612.1:c.806A>C, NM_015651.3:c.806A>G, NM_015651.3:c.806A>C, NM_015651.2:c.806A>G, NM_015651.2:c.806A>C, NM_015651.1:c.806A>G, NM_015651.1:c.806A>C, XM_011518515.3:c.863A>G, XM_011518515.3:c.863A>C, XM_011518515.2:c.863A>G, XM_011518515.2:c.863A>C, XM_011518515.1:c.863A>G, XM_011518515.1:c.863A>C, XM_011518516.3:c.863A>G, XM_011518516.3:c.863A>C, XM_011518516.2:c.863A>G, XM_011518516.2:c.863A>C, XM_011518516.1:c.863A>G, XM_011518516.1:c.863A>C, XM_024447507.2:c.287A>G, XM_024447507.2:c.287A>C, XM_024447507.1:c.287A>G, XM_024447507.1:c.287A>C, NM_001286840.1:c.863A>G, NM_001286840.1:c.863A>C, XM_047423211.1:c.287A>G, XM_047423211.1:c.287A>C, NM_001286842.1:c.179A>G, NM_001286842.1:c.179A>C, NR_104601.1:n.296A>G, NR_104601.1:n.296A>C, XM_047423210.1:c.863A>G, XM_047423210.1:c.863A>C, XP_011516811.1:p.Tyr269Cys, XP_011516811.1:p.Tyr269Ser, XP_005251963.2:p.Tyr328Cys, XP_005251963.2:p.Tyr328Ser, XP_016870101.1:p.Tyr269Cys, XP_016870101.1:p.Tyr269Ser, NP_056466.1:p.Tyr269Cys, NP_056466.1:p.Tyr269Ser, XP_011516817.1:p.Tyr288Cys, XP_011516817.1:p.Tyr288Ser, XP_011516818.1:p.Tyr288Cys, XP_011516818.1:p.Tyr288Ser, XP_024303275.1:p.Tyr96Cys, XP_024303275.1:p.Tyr96Ser, NP_001273769.1:p.Tyr288Cys, NP_001273769.1:p.Tyr288Ser, XP_047279167.1:p.Tyr96Cys, XP_047279167.1:p.Tyr96Ser, NP_001273771.1:p.Tyr60Cys, NP_001273771.1:p.Tyr60Ser, XP_047279166.1:p.Tyr288Cys, XP_047279166.1:p.Tyr288Ser

Select item 146877785218.

rs1468777852 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:120858079 (GRCh38)
9:123620357 (GRCh37)
Canonical SPDI:: NC_000009.12:120858078:C:G
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_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_000009.12:g.120858079C>G, NC_000009.11:g.123620357C>G, XM_011518509.4:c.1608G>C, XM_011518509.3:c.1608G>C, XM_011518509.2:c.1608G>C, XM_011518509.1:c.1608G>C, XM_005251906.4:c.1785G>C, XM_005251906.3:c.1608G>C, XM_005251906.2:c.1608G>C, XM_005251906.1:c.1608G>C, XM_017014612.3:c.1608G>C, XM_017014612.2:c.1608G>C, XM_017014612.1:c.1608G>C, NM_015651.3:c.1608G>C, NM_015651.2:c.1608G>C, NM_015651.1:c.1608G>C, XM_024447507.2:c.1089G>C, XM_024447507.1:c.1089G>C, NM_001286840.1:c.1665G>C, XM_047423211.1:c.1089G>C, NM_001286842.1:c.981G>C, NR_104601.1:n.1010G>C, XP_011516811.1:p.Lys536Asn, XP_005251963.2:p.Lys595Asn, XP_016870101.1:p.Lys536Asn, NP_056466.1:p.Lys536Asn, XP_024303275.1:p.Lys363Asn, NP_001273769.1:p.Lys555Asn, XP_047279167.1:p.Lys363Asn, NP_001273771.1:p.Lys327Asn

Select item 146773557319.

rs1467735573 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120866938 (GRCh38)
9:123629216 (GRCh37)
Canonical SPDI:: NC_000009.12:120866937:G:A
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
HGVS:: NC_000009.12:g.120866938G>A, NC_000009.11:g.123629216G>A, XM_011518509.4:c.642C>T, XM_011518509.3:c.642C>T, XM_011518509.2:c.642C>T, XM_011518509.1:c.642C>T, XM_005251906.4:c.819C>T, XM_005251906.3:c.642C>T, XM_005251906.2:c.642C>T, XM_005251906.1:c.642C>T, XM_017014612.3:c.642C>T, XM_017014612.2:c.642C>T, XM_017014612.1:c.642C>T, NM_015651.3:c.642C>T, NM_015651.2:c.642C>T, NM_015651.1:c.642C>T, XM_011518515.3:c.699C>T, XM_011518515.2:c.699C>T, XM_011518515.1:c.699C>T, XM_011518516.3:c.699C>T, XM_011518516.2:c.699C>T, XM_011518516.1:c.699C>T, XM_024447507.2:c.123C>T, XM_024447507.1:c.123C>T, NM_001286840.1:c.699C>T, XM_047423211.1:c.123C>T, NM_001286842.1:c.15C>T, NR_104601.1:n.132C>T, XM_047423210.1:c.699C>T

Select item 146282644720.

rs1462826447 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:120866076 (GRCh38)
9:123628354 (GRCh37)
Canonical SPDI:: NC_000009.12:120866075:G:A
Gene:: PHF19 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.120866076G>A, NC_000009.11:g.123628354G>A, XM_011518509.4:c.731C>T, XM_011518509.3:c.731C>T, XM_011518509.2:c.731C>T, XM_011518509.1:c.731C>T, XM_005251906.4:c.908C>T, XM_005251906.3:c.731C>T, XM_005251906.2:c.731C>T, XM_005251906.1:c.731C>T, XM_017014612.3:c.731C>T, XM_017014612.2:c.731C>T, XM_017014612.1:c.731C>T, NM_015651.3:c.731C>T, NM_015651.2:c.731C>T, NM_015651.1:c.731C>T, XM_011518515.3:c.788C>T, XM_011518515.2:c.788C>T, XM_011518515.1:c.788C>T, XM_011518516.3:c.788C>T, XM_011518516.2:c.788C>T, XM_011518516.1:c.788C>T, XM_024447507.2:c.212C>T, XM_024447507.1:c.212C>T, NM_001286840.1:c.788C>T, XM_047423211.1:c.212C>T, NM_001286842.1:c.104C>T, NR_104601.1:n.221C>T, XM_047423210.1:c.788C>T, XP_011516811.1:p.Ser244Phe, XP_005251963.2:p.Ser303Phe, XP_016870101.1:p.Ser244Phe, NP_056466.1:p.Ser244Phe, XP_011516817.1:p.Ser263Phe, XP_011516818.1:p.Ser263Phe, XP_024303275.1:p.Ser71Phe, NP_001273769.1:p.Ser263Phe, XP_047279167.1:p.Ser71Phe, NP_001273771.1:p.Ser35Phe, XP_047279166.1:p.Ser263Phe

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