SNP Links for Protein (Select 1062593989) - SNP

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80132822 (GRCh38)
10:81892578 (GRCh37)
Canonical SPDI:: NC_000010.11:80132821:G:A
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_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_000010.11:g.80132822G>A, NC_000010.10:g.81892578G>A, NM_001012973.3:c.60G>A, NM_001012973.2:c.60G>A, NM_001012973.1:c.60G>A, NM_001331125.2:c.60G>A, NM_001331125.1:c.60G>A

Select item 14333073426.

rs1433307342 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGCGCGCTGACCGGACTGGCCCTGCTC>- [Show Flanks]
Chromosome:: 10:80132778 (GRCh38)
10:81892534 (GRCh37)
Canonical SPDI:: NC_000010.11:80132769:CCCTGCTCTGCGCGCTGACCGGACTGGCCCTGCTC:CCCTGCTC
Gene:: PLAC9 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCTGCTC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.80132778_80132804del, NC_000010.10:g.81892534_81892560del, NM_001012973.3:c.16_42del, NM_001012973.2:c.16_42del, NM_001012973.1:c.16_42del, NM_001331125.2:c.16_42del, NM_001331125.1:c.16_42del, NP_001012991.1:p.Cys6_Leu14del, NP_001318054.1:p.Cys6_Leu14del

Select item 14317621477.

rs1431762147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80144971 (GRCh38)
10:81904727 (GRCh37)
Canonical SPDI:: NC_000010.11:80144970:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80144971C>T, NC_000010.10:g.81904727C>T, NM_001012973.3:c.*61C>T, NM_001012973.2:c.*61C>T, NM_001012973.1:c.*61C>T, NR_138551.2:n.462C>T, NR_138551.1:n.440C>T, NM_001331125.2:c.234C>T, NM_001331125.1:c.234C>T

Select item 14293479788.

rs1429347978 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:80144946 (GRCh38)
10:81904702 (GRCh37)
Canonical SPDI:: NC_000010.11:80144945:C:A,NC_000010.11:80144945:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80144946C>A, NC_000010.11:g.80144946C>T, NC_000010.10:g.81904702C>A, NC_000010.10:g.81904702C>T, NM_001012973.3:c.*36C>A, NM_001012973.3:c.*36C>T, NM_001012973.2:c.*36C>A, NM_001012973.2:c.*36C>T, NM_001012973.1:c.*36C>A, NM_001012973.1:c.*36C>T, NR_138551.2:n.437C>A, NR_138551.2:n.437C>T, NR_138551.1:n.415C>A, NR_138551.1:n.415C>T, NM_001331125.2:c.209C>A, NM_001331125.2:c.209C>T, NM_001331125.1:c.209C>A, NM_001331125.1:c.209C>T, NP_001318054.1:p.Ala70Glu, NP_001318054.1:p.Ala70Val

Select item 14225204869.

rs1422520486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80144961 (GRCh38)
10:81904717 (GRCh37)
Canonical SPDI:: NC_000010.11:80144960:G:A
Gene:: PLAC9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.80144961G>A, NC_000010.10:g.81904717G>A, NM_001012973.3:c.*51G>A, NM_001012973.2:c.*51G>A, NM_001012973.1:c.*51G>A, NR_138551.2:n.452G>A, NR_138551.1:n.430G>A, NM_001331125.2:c.224G>A, NM_001331125.1:c.224G>A, NP_001318054.1:p.Arg75His

Select item 139730623910.

rs1397306239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:80132789 (GRCh38)
10:81892545 (GRCh37)
Canonical SPDI:: NC_000010.11:80132788:C:G,NC_000010.11:80132788:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80132789C>G, NC_000010.11:g.80132789C>T, NC_000010.10:g.81892545C>G, NC_000010.10:g.81892545C>T, NM_001012973.3:c.27C>G, NM_001012973.3:c.27C>T, NM_001012973.2:c.27C>G, NM_001012973.2:c.27C>T, NM_001012973.1:c.27C>G, NM_001012973.1:c.27C>T, NM_001331125.2:c.27C>G, NM_001331125.2:c.27C>T, NM_001331125.1:c.27C>G, NM_001331125.1:c.27C>T

Select item 139417520111.

rs1394175201 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 10:80144986 (GRCh38)
10:81904742 (GRCh37)
Canonical SPDI:: NC_000010.11:80144985:C:A,NC_000010.11:80144985:C:G,NC_000010.11:80144985:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.80144986C>A, NC_000010.11:g.80144986C>G, NC_000010.11:g.80144986C>T, NC_000010.10:g.81904742C>A, NC_000010.10:g.81904742C>G, NC_000010.10:g.81904742C>T, NM_001012973.3:c.*76C>A, NM_001012973.3:c.*76C>G, NM_001012973.3:c.*76C>T, NM_001012973.2:c.*76C>A, NM_001012973.2:c.*76C>G, NM_001012973.2:c.*76C>T, NM_001012973.1:c.*76C>A, NM_001012973.1:c.*76C>G, NM_001012973.1:c.*76C>T, NR_138551.2:n.477C>A, NR_138551.2:n.477C>G, NR_138551.2:n.477C>T, NR_138551.1:n.455C>A, NR_138551.1:n.455C>G, NR_138551.1:n.455C>T, NM_001331125.2:c.249C>A, NM_001331125.2:c.249C>G, NM_001331125.2:c.249C>T, NM_001331125.1:c.249C>A, NM_001331125.1:c.249C>G, NM_001331125.1:c.249C>T

Select item 139348526412.

rs1393485264 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80142123 (GRCh38)
10:81901879 (GRCh37)
Canonical SPDI:: NC_000010.11:80142122:A:G
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000111/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000566/9 (TOMMO)
HGVS:: NC_000010.11:g.80142123A>G, NC_000010.10:g.81901879A>G, NM_001012973.3:c.106A>G, NM_001012973.2:c.106A>G, NM_001012973.1:c.106A>G, NR_138551.2:n.213A>G, NR_138551.1:n.191A>G, NM_001331125.2:c.106A>G, NM_001331125.1:c.106A>G, NP_001012991.1:p.Ser36Gly, NP_001318054.1:p.Ser36Gly

Select item 139326970213.

rs1393269702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80132801 (GRCh38)
10:81892557 (GRCh37)
Canonical SPDI:: NC_000010.11:80132800:G:A
Gene:: PLAC9 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.80132801G>A, NC_000010.10:g.81892557G>A, NM_001012973.3:c.39G>A, NM_001012973.2:c.39G>A, NM_001012973.1:c.39G>A, NM_001331125.2:c.39G>A, NM_001331125.1:c.39G>A

Select item 138958899714.

rs1389588997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80142082 (GRCh38)
10:81901838 (GRCh37)
Canonical SPDI:: NC_000010.11:80142081:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80142082C>T, NC_000010.10:g.81901838C>T, NM_001012973.3:c.65C>T, NM_001012973.2:c.65C>T, NM_001012973.1:c.65C>T, NR_138551.2:n.172C>T, NR_138551.1:n.150C>T, NM_001331125.2:c.65C>T, NM_001331125.1:c.65C>T, NP_001012991.1:p.Ala22Val, NP_001318054.1:p.Ala22Val

Select item 138608441815.

rs1386084418 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:80132766 (GRCh38)
10:81892522 (GRCh37)
Canonical SPDI:: NC_000010.11:80132765:C:A
Gene:: PLAC9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80132766C>A, NC_000010.10:g.81892522C>A, NM_001012973.3:c.4C>A, NM_001012973.2:c.4C>A, NM_001012973.1:c.4C>A, NM_001331125.2:c.4C>A, NM_001331125.1:c.4C>A

Select item 138475719316.

rs1384757193 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:80132793 (GRCh38)
10:81892549 (GRCh37)
Canonical SPDI:: NC_000010.11:80132792:C:
Gene:: PLAC9 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.80132793del, NC_000010.10:g.81892549del, NM_001012973.3:c.31del, NM_001012973.2:c.31del, NM_001012973.1:c.31del, NM_001331125.2:c.31del, NM_001331125.1:c.31del, NP_001012991.1:p.Leu11fs, NP_001318054.1:p.Leu11fs

Select item 138263177517.

rs1382631775 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80144962 (GRCh38)
10:81904718 (GRCh37)
Canonical SPDI:: NC_000010.11:80144961:C:T
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_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_000010.11:g.80144962C>T, NC_000010.10:g.81904718C>T, NM_001012973.3:c.*52C>T, NM_001012973.2:c.*52C>T, NM_001012973.1:c.*52C>T, NR_138551.2:n.453C>T, NR_138551.1:n.431C>T, NM_001331125.2:c.225C>T, NM_001331125.1:c.225C>T

Select item 138107718318.

rs1381077183 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:80144982 (GRCh38)
10:81904738 (GRCh37)
Canonical SPDI:: NC_000010.11:80144981:C:G
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80144982C>G, NC_000010.10:g.81904738C>G, NM_001012973.3:c.*72C>G, NM_001012973.2:c.*72C>G, NM_001012973.1:c.*72C>G, NR_138551.2:n.473C>G, NR_138551.1:n.451C>G, NM_001331125.2:c.245C>G, NM_001331125.1:c.245C>G, NP_001318054.1:p.Pro82Arg

Select item 137367379519.

rs1373673795 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80144967 (GRCh38)
10:81904723 (GRCh37)
Canonical SPDI:: NC_000010.11:80144966:A:G
Gene:: PLAC9 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,3_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000012/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.80144967A>G, NC_000010.10:g.81904723A>G, NM_001012973.3:c.*57A>G, NM_001012973.2:c.*57A>G, NM_001012973.1:c.*57A>G, NR_138551.2:n.458A>G, NR_138551.1:n.436A>G, NM_001331125.2:c.230A>G, NM_001331125.1:c.230A>G, NP_001318054.1:p.Gln77Arg

Select item 137062924020.

rs1370629240 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 10:80132807 (GRCh38)
10:81892563 (GRCh37)
Canonical SPDI:: NC_000010.11:80132806:C:A
Gene:: PLAC9 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80132807C>A, NC_000010.10:g.81892563C>A, NM_001012973.3:c.45C>A, NM_001012973.2:c.45C>A, NM_001012973.1:c.45C>A, NM_001331125.2:c.45C>A, NM_001331125.1:c.45C>A

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