SNP Links for Protein (Select 1034608079) - SNP

Links from Protein

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Select item 14841811761.

rs1484181176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42300239 (GRCh38)
19:42804391 (GRCh37)
Canonical SPDI:: NC_000019.10:42300238:C:T
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_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.42300239C>T, NC_000019.9:g.42804391C>T, NM_002573.4:c.217G>A, NM_002573.3:c.217G>A, XM_017026846.2:c.217G>A, XM_017026846.1:c.217G>A, NM_001145939.2:c.217G>A, NM_001145939.1:c.217G>A, XM_017026847.2:c.217G>A, XM_017026847.1:c.217G>A, NM_001145940.1:c.217G>A, XM_017026848.1:c.217G>A, NP_002564.1:p.Gly73Ser, XP_016882335.1:p.Gly73Ser, NP_001139411.1:p.Gly73Ser, XP_016882336.1:p.Gly73Ser, NP_001139412.1:p.Gly73Ser, XP_016882337.1:p.Gly73Ser

Select item 14781460622.

rs1478146062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:42297283 (GRCh38)
19:42801435 (GRCh37)
Canonical SPDI:: NC_000019.10:42297282:G:C
Gene:: PAFAH1B3 (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=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.42297283G>C, NC_000019.9:g.42801435G>C, NG_042060.1:g.33747G>C, NM_002573.4:c.491C>G, NM_002573.3:c.491C>G, XM_017026846.2:c.452C>G, XM_017026846.1:c.452C>G, NM_001145939.2:c.491C>G, NM_001145939.1:c.491C>G, XM_017026847.2:c.452C>G, XM_017026847.1:c.452C>G, NM_001145940.1:c.491C>G, XM_017026848.1:c.452C>G, NP_002564.1:p.Ala164Gly, XP_016882335.1:p.Ala151Gly, NP_001139411.1:p.Ala164Gly, XP_016882336.1:p.Ala151Gly, NP_001139412.1:p.Ala164Gly, XP_016882337.1:p.Ala151Gly

Select item 14755577573.

rs1475557757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42300208 (GRCh38)
19:42804360 (GRCh37)
Canonical SPDI:: NC_000019.10:42300207:C:A,NC_000019.10:42300207:C:T
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.42300208C>A, NC_000019.10:g.42300208C>T, NC_000019.9:g.42804360C>A, NC_000019.9:g.42804360C>T, NM_002573.4:c.248G>T, NM_002573.4:c.248G>A, NM_002573.3:c.248G>T, NM_002573.3:c.248G>A, XM_017026846.2:c.248G>T, XM_017026846.2:c.248G>A, XM_017026846.1:c.248G>T, XM_017026846.1:c.248G>A, NM_001145939.2:c.248G>T, NM_001145939.2:c.248G>A, NM_001145939.1:c.248G>T, NM_001145939.1:c.248G>A, XM_017026847.2:c.248G>T, XM_017026847.2:c.248G>A, XM_017026847.1:c.248G>T, XM_017026847.1:c.248G>A, NM_001145940.1:c.248G>T, NM_001145940.1:c.248G>A, XM_017026848.1:c.248G>T, XM_017026848.1:c.248G>A, NP_002564.1:p.Arg83Leu, NP_002564.1:p.Arg83Gln, XP_016882335.1:p.Arg83Leu, XP_016882335.1:p.Arg83Gln, NP_001139411.1:p.Arg83Leu, NP_001139411.1:p.Arg83Gln, XP_016882336.1:p.Arg83Leu, XP_016882336.1:p.Arg83Gln, NP_001139412.1:p.Arg83Leu, NP_001139412.1:p.Arg83Gln, XP_016882337.1:p.Arg83Leu, XP_016882337.1:p.Arg83Gln

Select item 14748849154.

rs1474884915 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:42297165 (GRCh38)
19:42801317 (GRCh37)
Canonical SPDI:: NC_000019.10:42297164:A:G
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42297165A>G, NC_000019.9:g.42801317A>G, NG_042060.1:g.33629A>G, NM_002573.4:c.609T>C, NM_002573.3:c.609T>C, XM_017026846.2:c.570T>C, XM_017026846.1:c.570T>C, NM_001145939.2:c.609T>C, NM_001145939.1:c.609T>C, XM_017026847.2:c.570T>C, XM_017026847.1:c.570T>C, NM_001145940.1:c.609T>C, XM_017026848.1:c.570T>C

Select item 14719578285.

rs1471957828 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 19:42301976 (GRCh38)
19:42806128 (GRCh37)
Canonical SPDI:: NC_000019.10:42301975:A:C,NC_000019.10:42301975:A:G
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.42301976A>C, NC_000019.10:g.42301976A>G, NC_000019.9:g.42806128A>C, NC_000019.9:g.42806128A>G, NM_002573.4:c.142T>G, NM_002573.4:c.142T>C, NM_002573.3:c.142T>G, NM_002573.3:c.142T>C, XM_017026846.2:c.142T>G, XM_017026846.2:c.142T>C, XM_017026846.1:c.142T>G, XM_017026846.1:c.142T>C, NM_001145939.2:c.142T>G, NM_001145939.2:c.142T>C, NM_001145939.1:c.142T>G, NM_001145939.1:c.142T>C, XM_017026847.2:c.142T>G, XM_017026847.2:c.142T>C, XM_017026847.1:c.142T>G, XM_017026847.1:c.142T>C, NM_001145940.1:c.142T>G, NM_001145940.1:c.142T>C, XM_017026848.1:c.142T>G, XM_017026848.1:c.142T>C, NP_002564.1:p.Leu48Val, XP_016882335.1:p.Leu48Val, NP_001139411.1:p.Leu48Val, XP_016882336.1:p.Leu48Val, NP_001139412.1:p.Leu48Val, XP_016882337.1:p.Leu48Val

Select item 14713046626.

rs1471304662 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:42297360 (GRCh38)
19:42801512 (GRCh37)
Canonical SPDI:: NC_000019.10:42297359:C:A
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42297360C>A, NC_000019.9:g.42801512C>A, NG_042060.1:g.33824C>A, NM_002573.4:c.414G>T, NM_002573.3:c.414G>T, XM_017026846.2:c.375G>T, XM_017026846.1:c.375G>T, NM_001145939.2:c.414G>T, NM_001145939.1:c.414G>T, XM_017026847.2:c.375G>T, XM_017026847.1:c.375G>T, NM_001145940.1:c.414G>T, XM_017026848.1:c.375G>T

Select item 14683294877.

rs1468329487 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42302252 (GRCh38)
19:42806404 (GRCh37)
Canonical SPDI:: NC_000019.10:42302251:C:T
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.42302252C>T, NC_000019.9:g.42806404C>T, NM_002573.4:c.58G>A, NM_002573.3:c.58G>A, NM_199285.3:c.-258C>T, NM_199285.2:c.-258C>T, XM_017026846.2:c.58G>A, XM_017026846.1:c.58G>A, NM_001145939.2:c.58G>A, NM_001145939.1:c.58G>A, XM_017026847.2:c.58G>A, XM_017026847.1:c.58G>A, NM_001145940.1:c.58G>A, XM_017026848.1:c.58G>A, NP_002564.1:p.Asp20Asn, XP_016882335.1:p.Asp20Asn, NP_001139411.1:p.Asp20Asn, XP_016882336.1:p.Asp20Asn, NP_001139412.1:p.Asp20Asn, XP_016882337.1:p.Asp20Asn

Select item 14673601878.

rs1467360187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42302037 (GRCh38)
19:42806189 (GRCh37)
Canonical SPDI:: NC_000019.10:42302036:G:A
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.42302037G>A, NC_000019.9:g.42806189G>A, NM_002573.4:c.81C>T, NM_002573.3:c.81C>T, XM_017026846.2:c.81C>T, XM_017026846.1:c.81C>T, NM_001145939.2:c.81C>T, NM_001145939.1:c.81C>T, XM_017026847.2:c.81C>T, XM_017026847.1:c.81C>T, NM_001145940.1:c.81C>T, XM_017026848.1:c.81C>T

Select item 14672618589.

rs1467261858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42301965 (GRCh38)
19:42806117 (GRCh37)
Canonical SPDI:: NC_000019.10:42301964:G:A
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000006/1 (GnomAD_exomes)
A=0.000354/6 (TOMMO)
A=0.000684/2 (KOREAN)
HGVS:: NC_000019.10:g.42301965G>A, NC_000019.9:g.42806117G>A, NM_002573.4:c.153C>T, NM_002573.3:c.153C>T, XM_017026846.2:c.153C>T, XM_017026846.1:c.153C>T, NM_001145939.2:c.153C>T, NM_001145939.1:c.153C>T, XM_017026847.2:c.153C>T, XM_017026847.1:c.153C>T, NM_001145940.1:c.153C>T, XM_017026848.1:c.153C>T

Select item 146289173310.

rs1462891733 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:42297205 (GRCh38)
19:42801357 (GRCh37)
Canonical SPDI:: NC_000019.10:42297204:AT:
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42297205_42297206del, NC_000019.9:g.42801357_42801358del, NG_042060.1:g.33669_33670del, NM_002573.4:c.568_569del, NM_002573.3:c.568_569del, XM_017026846.2:c.529_530del, XM_017026846.1:c.529_530del, NM_001145939.2:c.568_569del, NM_001145939.1:c.568_569del, XM_017026847.2:c.529_530del, XM_017026847.1:c.529_530del, NM_001145940.1:c.568_569del, XM_017026848.1:c.529_530del, NP_002564.1:p.Met190fs, XP_016882335.1:p.Met177fs, NP_001139411.1:p.Met190fs, XP_016882336.1:p.Met177fs, NP_001139412.1:p.Met190fs, XP_016882337.1:p.Met177fs

Select item 146257554311.

rs1462575543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42302015 (GRCh38)
19:42806167 (GRCh37)
Canonical SPDI:: NC_000019.10:42302014:T:C
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42302015T>C, NC_000019.9:g.42806167T>C, NM_002573.4:c.103A>G, NM_002573.3:c.103A>G, XM_017026846.2:c.103A>G, XM_017026846.1:c.103A>G, NM_001145939.2:c.103A>G, NM_001145939.1:c.103A>G, XM_017026847.2:c.103A>G, XM_017026847.1:c.103A>G, NM_001145940.1:c.103A>G, XM_017026848.1:c.103A>G, NP_002564.1:p.Lys35Glu, XP_016882335.1:p.Lys35Glu, NP_001139411.1:p.Lys35Glu, XP_016882336.1:p.Lys35Glu, NP_001139412.1:p.Lys35Glu, XP_016882337.1:p.Lys35Glu

Select item 145984136412.

rs1459841364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:42297129 (GRCh38)
19:42801281 (GRCh37)
Canonical SPDI:: NC_000019.10:42297128:C:G
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.42297129C>G, NC_000019.9:g.42801281C>G, NG_042060.1:g.33593C>G, NM_002573.4:c.645G>C, NM_002573.3:c.645G>C, XM_017026846.2:c.606G>C, XM_017026846.1:c.606G>C, NM_001145939.2:c.645G>C, NM_001145939.1:c.645G>C, XM_017026847.2:c.606G>C, XM_017026847.1:c.606G>C, NM_001145940.1:c.645G>C, XM_017026848.1:c.606G>C

Select item 145901859513.

rs1459018595 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42300047 (GRCh38)
19:42804199 (GRCh37)
Canonical SPDI:: NC_000019.10:42300046:C:T
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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.42300047C>T, NC_000019.9:g.42804199C>T, NM_002573.4:c.331G>A, NM_002573.3:c.331G>A, XM_017026846.2:c.331G>A, XM_017026846.1:c.331G>A, NM_001145939.2:c.331G>A, NM_001145939.1:c.331G>A, XM_017026847.2:c.331G>A, XM_017026847.1:c.331G>A, NM_001145940.1:c.331G>A, XM_017026848.1:c.331G>A, NP_002564.1:p.Glu111Lys, XP_016882335.1:p.Glu111Lys, NP_001139411.1:p.Glu111Lys, XP_016882336.1:p.Glu111Lys, NP_001139412.1:p.Glu111Lys, XP_016882337.1:p.Glu111Lys

Select item 145877458814.

rs1458774588 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42302302 (GRCh38)
19:42806454 (GRCh37)
Canonical SPDI:: NC_000019.10:42302301:C:A,NC_000019.10:42302301:C:T
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.42302302C>A, NC_000019.10:g.42302302C>T, NC_000019.9:g.42806454C>A, NC_000019.9:g.42806454C>T, NM_002573.4:c.8G>T, NM_002573.4:c.8G>A, NM_002573.3:c.8G>T, NM_002573.3:c.8G>A, NM_199285.3:c.-208C>A, NM_199285.3:c.-208C>T, NM_199285.2:c.-208C>A, NM_199285.2:c.-208C>T, XM_017026846.2:c.8G>T, XM_017026846.2:c.8G>A, XM_017026846.1:c.8G>T, XM_017026846.1:c.8G>A, NM_001145939.2:c.8G>T, NM_001145939.2:c.8G>A, NM_001145939.1:c.8G>T, NM_001145939.1:c.8G>A, XM_017026847.2:c.8G>T, XM_017026847.2:c.8G>A, XM_017026847.1:c.8G>T, XM_017026847.1:c.8G>A, NM_001145940.1:c.8G>T, NM_001145940.1:c.8G>A, XM_017026848.1:c.8G>T, XM_017026848.1:c.8G>A, NP_002564.1:p.Gly3Val, NP_002564.1:p.Gly3Glu, XP_016882335.1:p.Gly3Val, XP_016882335.1:p.Gly3Glu, NP_001139411.1:p.Gly3Val, NP_001139411.1:p.Gly3Glu, XP_016882336.1:p.Gly3Val, XP_016882336.1:p.Gly3Glu, NP_001139412.1:p.Gly3Val, NP_001139412.1:p.Gly3Glu, XP_016882337.1:p.Gly3Val, XP_016882337.1:p.Gly3Glu

Select item 145440282115.

rs1454402821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42300039 (GRCh38)
19:42804191 (GRCh37)
Canonical SPDI:: NC_000019.10:42300038:C:T
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42300039C>T, NC_000019.9:g.42804191C>T, NM_002573.4:c.339G>A, NM_002573.3:c.339G>A, XM_017026846.2:c.339G>A, XM_017026846.1:c.339G>A, NM_001145939.2:c.339G>A, NM_001145939.1:c.339G>A, XM_017026847.2:c.339G>A, XM_017026847.1:c.339G>A, NM_001145940.1:c.339G>A, XM_017026848.1:c.339G>A

Select item 145324430916.

rs1453244309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:42300218 (GRCh38)
19:42804370 (GRCh37)
Canonical SPDI:: NC_000019.10:42300217:C:T
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
T=0.000071/2 (TOMMO)
HGVS:: NC_000019.10:g.42300218C>T, NC_000019.9:g.42804370C>T, NM_002573.4:c.238G>A, NM_002573.3:c.238G>A, XM_017026846.2:c.238G>A, XM_017026846.1:c.238G>A, NM_001145939.2:c.238G>A, NM_001145939.1:c.238G>A, XM_017026847.2:c.238G>A, XM_017026847.1:c.238G>A, NM_001145940.1:c.238G>A, XM_017026848.1:c.238G>A, NP_002564.1:p.Val80Ile, XP_016882335.1:p.Val80Ile, NP_001139411.1:p.Val80Ile, XP_016882336.1:p.Val80Ile, NP_001139412.1:p.Val80Ile, XP_016882337.1:p.Val80Ile

Select item 144432980017.

rs1444329800 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:42300083 (GRCh38)
19:42804235 (GRCh37)
Canonical SPDI:: NC_000019.10:42300082:C:A,NC_000019.10:42300082:C:G
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42300083C>A, NC_000019.10:g.42300083C>G, NC_000019.9:g.42804235C>A, NC_000019.9:g.42804235C>G, NM_002573.4:c.295G>T, NM_002573.4:c.295G>C, NM_002573.3:c.295G>T, NM_002573.3:c.295G>C, XM_017026846.2:c.295G>T, XM_017026846.2:c.295G>C, XM_017026846.1:c.295G>T, XM_017026846.1:c.295G>C, NM_001145939.2:c.295G>T, NM_001145939.2:c.295G>C, NM_001145939.1:c.295G>T, NM_001145939.1:c.295G>C, XM_017026847.2:c.295G>T, XM_017026847.2:c.295G>C, XM_017026847.1:c.295G>T, XM_017026847.1:c.295G>C, NM_001145940.1:c.295G>T, NM_001145940.1:c.295G>C, XM_017026848.1:c.295G>T, XM_017026848.1:c.295G>C, NP_002564.1:p.Val99Phe, NP_002564.1:p.Val99Leu, XP_016882335.1:p.Val99Phe, XP_016882335.1:p.Val99Leu, NP_001139411.1:p.Val99Phe, NP_001139411.1:p.Val99Leu, XP_016882336.1:p.Val99Phe, XP_016882336.1:p.Val99Leu, NP_001139412.1:p.Val99Phe, NP_001139412.1:p.Val99Leu, XP_016882337.1:p.Val99Phe, XP_016882337.1:p.Val99Leu

Select item 144134486918.

rs1441344869 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:42302257 (GRCh38)
19:42806409 (GRCh37)
Canonical SPDI:: NC_000019.10:42302256:T:C
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.42302257T>C, NC_000019.9:g.42806409T>C, NM_002573.4:c.53A>G, NM_002573.3:c.53A>G, NM_199285.3:c.-253T>C, NM_199285.2:c.-253T>C, XM_017026846.2:c.53A>G, XM_017026846.1:c.53A>G, NM_001145939.2:c.53A>G, NM_001145939.1:c.53A>G, XM_017026847.2:c.53A>G, XM_017026847.1:c.53A>G, NM_001145940.1:c.53A>G, XM_017026848.1:c.53A>G, NP_002564.1:p.Gln18Arg, XP_016882335.1:p.Gln18Arg, NP_001139411.1:p.Gln18Arg, XP_016882336.1:p.Gln18Arg, NP_001139412.1:p.Gln18Arg, XP_016882337.1:p.Gln18Arg

Select item 143977152519.

rs1439771525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:42297209 (GRCh38)
19:42801361 (GRCh37)
Canonical SPDI:: NC_000019.10:42297208:C:A,NC_000019.10:42297208:C:T
Gene:: PAFAH1B3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.42297209C>A, NC_000019.10:g.42297209C>T, NC_000019.9:g.42801361C>A, NC_000019.9:g.42801361C>T, NG_042060.1:g.33673C>A, NG_042060.1:g.33673C>T, NM_002573.4:c.565G>T, NM_002573.4:c.565G>A, NM_002573.3:c.565G>T, NM_002573.3:c.565G>A, XM_017026846.2:c.526G>T, XM_017026846.2:c.526G>A, XM_017026846.1:c.526G>T, XM_017026846.1:c.526G>A, NM_001145939.2:c.565G>T, NM_001145939.2:c.565G>A, NM_001145939.1:c.565G>T, NM_001145939.1:c.565G>A, XM_017026847.2:c.526G>T, XM_017026847.2:c.526G>A, XM_017026847.1:c.526G>T, XM_017026847.1:c.526G>A, NM_001145940.1:c.565G>T, NM_001145940.1:c.565G>A, XM_017026848.1:c.526G>T, XM_017026848.1:c.526G>A, NP_002564.1:p.Asp189Tyr, NP_002564.1:p.Asp189Asn, XP_016882335.1:p.Asp176Tyr, XP_016882335.1:p.Asp176Asn, NP_001139411.1:p.Asp189Tyr, NP_001139411.1:p.Asp189Asn, XP_016882336.1:p.Asp176Tyr, XP_016882336.1:p.Asp176Asn, NP_001139412.1:p.Asp189Tyr, NP_001139412.1:p.Asp189Asn, XP_016882337.1:p.Asp176Tyr, XP_016882337.1:p.Asp176Asn

Select item 143970485120.

rs1439704851 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:42301986 (GRCh38)
19:42806138 (GRCh37)
Canonical SPDI:: NC_000019.10:42301985:G:A
Gene:: PAFAH1B3 (Varview), PRR19 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.42301986G>A, NC_000019.9:g.42806138G>A, NM_002573.4:c.132C>T, NM_002573.3:c.132C>T, XM_017026846.2:c.132C>T, XM_017026846.1:c.132C>T, NM_001145939.2:c.132C>T, NM_001145939.1:c.132C>T, XM_017026847.2:c.132C>T, XM_017026847.1:c.132C>T, NM_001145940.1:c.132C>T, XM_017026848.1:c.132C>T

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