SNP Links for Protein (Select 15451921) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:104000135 (GRCh38)
11:103870863 (GRCh37)
Canonical SPDI:: NC_000011.10:104000134:C:T
Gene:: PDGFD (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=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
T=0.000016/2 (ExAC)
HGVS:: NC_000011.10:g.104000135C>T, NC_000011.9:g.103870863C>T, NM_025208.5:c.245G>A, NM_025208.4:c.245G>A, NM_033135.4:c.227G>A, NM_033135.3:c.227G>A, NP_079484.1:p.Arg82Gln, NP_149126.1:p.Arg76Gln

Select item 14724225257.

rs1472422525 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:103943489 (GRCh38)
11:103814217 (GRCh37)
Canonical SPDI:: NC_000011.10:103943488:C:A,NC_000011.10:103943488:C:G
Gene:: PDGFD (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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_000011.10:g.103943489C>A, NC_000011.10:g.103943489C>G, NC_000011.9:g.103814217C>A, NC_000011.9:g.103814217C>G, NM_025208.5:c.735G>T, NM_025208.5:c.735G>C, NM_025208.4:c.735G>T, NM_025208.4:c.735G>C, NM_033135.4:c.717G>T, NM_033135.4:c.717G>C, NM_033135.3:c.717G>T, NM_033135.3:c.717G>C

Select item 14684481238.

rs1468448123 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:103996115 (GRCh38)
11:103866843 (GRCh37)
Canonical SPDI:: NC_000011.10:103996114:C:T
Gene:: PDGFD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.103996115C>T, NC_000011.9:g.103866843C>T, NM_025208.5:c.460G>A, NM_025208.4:c.460G>A, NM_033135.4:c.442G>A, NM_033135.3:c.442G>A, NP_079484.1:p.Asp154Asn, NP_149126.1:p.Asp148Asn

Select item 14652829219.

rs1465282921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:103926982 (GRCh38)
11:103797710 (GRCh37)
Canonical SPDI:: NC_000011.10:103926981:C:T
Gene:: PDGFD (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.103926982C>T, NC_000011.9:g.103797710C>T, NM_025208.5:c.917G>A, NM_025208.4:c.917G>A, NM_033135.4:c.899G>A, NM_033135.3:c.899G>A, NP_079484.1:p.Cys306Tyr, NP_149126.1:p.Cys300Tyr

Select item 145701596910.

rs1457015969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCATGTGCAGGACCTCCAGTTGACAGTTCCACAGCCACAATTTCCT>- [Show Flanks]
Chromosome:: 11:103926945 (GRCh38)
11:103797673 (GRCh37)
Canonical SPDI:: NC_000011.10:103926943:TGCATGTGCAGGACCTCCAGTTGACAGTTCCACAGCCACAATTTCCT:T
Gene:: PDGFD (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000011.10:g.103926945_103926990del, NC_000011.9:g.103797673_103797718del, NM_025208.5:c.910_955del, NM_025208.4:c.910_955del, NM_033135.4:c.892_937del, NM_033135.3:c.892_937del, NP_079484.1:p.Gly304fs, NP_149126.1:p.Gly298fs

Select item 145625654111.

rs1456256541 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:103909724 (GRCh38)
11:103780452 (GRCh37)
Canonical SPDI:: NC_000011.10:103909723:A:G
Gene:: PDGFD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.103909724A>G, NC_000011.9:g.103780452A>G, NM_025208.5:c.1083T>C, NM_025208.4:c.1083T>C, NM_033135.4:c.1065T>C, NM_033135.3:c.1065T>C

Select item 145583081712.

rs1455830817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:104163841 (GRCh38)
11:104034569 (GRCh37)
Canonical SPDI:: NC_000011.10:104163840:G:A,NC_000011.10:104163840:G:C
Gene:: PDGFD (Varview)
Functional Consequence:: synonymous_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_000011.10:g.104163841G>A, NC_000011.10:g.104163841G>C, NC_000011.9:g.104034569G>A, NC_000011.9:g.104034569G>C, NM_025208.5:c.87C>T, NM_025208.5:c.87C>G, NM_025208.4:c.87C>T, NM_025208.4:c.87C>G, NM_033135.4:c.87C>T, NM_033135.4:c.87C>G, NM_033135.3:c.87C>T, NM_033135.3:c.87C>G

Select item 145318999713.

rs1453189997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:103943484 (GRCh38)
11:103814212 (GRCh37)
Canonical SPDI:: NC_000011.10:103943483:C:T
Gene:: PDGFD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.103943484C>T, NC_000011.9:g.103814212C>T, NM_025208.5:c.740G>A, NM_025208.4:c.740G>A, NM_033135.4:c.722G>A, NM_033135.3:c.722G>A, NP_079484.1:p.Arg247Gln, NP_149126.1:p.Arg241Gln

Select item 145170252214.

rs1451702522 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:104000058 (GRCh38)
11:103870786 (GRCh37)
Canonical SPDI:: NC_000011.10:104000057:T:C
Gene:: PDGFD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.104000058T>C, NC_000011.9:g.103870786T>C, NM_025208.5:c.322A>G, NM_025208.4:c.322A>G, NM_033135.4:c.304A>G, NM_033135.3:c.304A>G, NP_079484.1:p.Ile108Val, NP_149126.1:p.Ile102Val

Select item 144687874015.

rs1446878740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:103943460 (GRCh38)
11:103814188 (GRCh37)
Canonical SPDI:: NC_000011.10:103943459:T:A
Gene:: PDGFD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.103943460T>A, NC_000011.9:g.103814188T>A, NM_025208.5:c.764A>T, NM_025208.4:c.764A>T, NM_033135.4:c.746A>T, NM_033135.3:c.746A>T, NP_079484.1:p.Lys255Met, NP_149126.1:p.Lys249Met

Select item 144660386216.

rs1446603862 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:103926915 (GRCh38)
11:103797643 (GRCh37)
Canonical SPDI:: NC_000011.10:103926914:A:G
Gene:: PDGFD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.103926915A>G, NC_000011.9:g.103797643A>G, NM_025208.5:c.984T>C, NM_025208.4:c.984T>C, NM_033135.4:c.966T>C, NM_033135.3:c.966T>C

Select item 143860276417.

rs1438602764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:103943538 (GRCh38)
11:103814266 (GRCh37)
Canonical SPDI:: NC_000011.10:103943537:G:C
Gene:: PDGFD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.103943538G>C, NC_000011.9:g.103814266G>C, NM_025208.5:c.686C>G, NM_025208.4:c.686C>G, NM_033135.4:c.668C>G, NM_033135.3:c.668C>G, NP_079484.1:p.Pro229Arg, NP_149126.1:p.Pro223Arg

Select item 143707295518.

rs1437072955 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:103996161 (GRCh38)
11:103866889 (GRCh37)
Canonical SPDI:: NC_000011.10:103996160:T:C
Gene:: PDGFD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000049/2 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.103996161T>C, NC_000011.9:g.103866889T>C, NM_025208.5:c.414A>G, NM_025208.4:c.414A>G, NM_033135.4:c.396A>G, NM_033135.3:c.396A>G

Select item 143404230319.

rs1434042303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:103909793 (GRCh38)
11:103780521 (GRCh37)
Canonical SPDI:: NC_000011.10:103909792:G:C
Gene:: PDGFD (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.103909793G>C, NC_000011.9:g.103780521G>C, NM_025208.5:c.1014C>G, NM_025208.4:c.1014C>G, NM_033135.4:c.996C>G, NM_033135.3:c.996C>G, NP_079484.1:p.Ile338Met, NP_149126.1:p.Ile332Met

Select item 143082635120.

rs1430826351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:103943642 (GRCh38)
11:103814370 (GRCh37)
Canonical SPDI:: NC_000011.10:103943641:G:A
Gene:: PDGFD (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.103943642G>A, NC_000011.9:g.103814370G>A, NM_025208.5:c.582C>T, NM_025208.4:c.582C>T, NM_033135.4:c.564C>T, NM_033135.3:c.564C>T