SNP Links for Protein (Select 7706659) - SNP

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Links from Protein

Items: 1 to 20 of 284

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Select item 14901664661.

rs1490166466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:129719339 (GRCh38)
9:132481618 (GRCh37)
Canonical SPDI:: NC_000009.12:129719338:T:C
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129719339T>C, NC_000009.11:g.132481618T>C, NM_016307.4:c.368T>C, NM_016307.3:c.368T>C, XM_017014803.1:c.188T>C, NP_057391.1:p.Phe123Ser, XP_016870292.1:p.Phe63Ser

Select item 14897430112.

rs1489743011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129666094 (GRCh38)
9:132428373 (GRCh37)
Canonical SPDI:: NC_000009.12:129666093:G:A
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_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)
A=0.00057/1 (Korea1K)
A=0.000943/2 (KOREAN)
A=0.004886/82 (TOMMO)
HGVS:: NC_000009.12:g.129666094G>A, NC_000009.11:g.132428373G>A, NM_016307.4:c.227G>A, NM_016307.3:c.227G>A, NP_057391.1:p.Gly76Asp

Select item 14881536783.

rs1488153678 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 9:129719254 (GRCh38)
9:132481533 (GRCh37)
Canonical SPDI:: NC_000009.12:129719253:G:C
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.129719254G>C, NC_000009.11:g.132481533G>C, NM_016307.4:c.283G>C, NM_016307.3:c.283G>C, XM_017014803.1:c.103G>C, NP_057391.1:p.Gly95Arg, XP_016870292.1:p.Gly35Arg

Select item 14852761174.

rs1485276117 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:129666091 (GRCh38)
9:132428370 (GRCh37)
Canonical SPDI:: NC_000009.12:129666090:G:A,NC_000009.12:129666090:G:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129666091G>A, NC_000009.12:g.129666091G>T, NC_000009.11:g.132428370G>A, NC_000009.11:g.132428370G>T, NM_016307.4:c.224G>A, NM_016307.4:c.224G>T, NM_016307.3:c.224G>A, NM_016307.3:c.224G>T, NP_057391.1:p.Gly75Glu, NP_057391.1:p.Gly75Val

Select item 14843331115.

rs1484333111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 9:129720672 (GRCh38)
9:132482951 (GRCh37)
Canonical SPDI:: NC_000009.12:129720671:T:C,NC_000009.12:129720671:T:G
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.129720672T>C, NC_000009.12:g.129720672T>G, NC_000009.11:g.132482951T>C, NC_000009.11:g.132482951T>G, NM_016307.4:c.524T>C, NM_016307.4:c.524T>G, NM_016307.3:c.524T>C, NM_016307.3:c.524T>G, XM_017014803.1:c.344T>C, XM_017014803.1:c.344T>G, NP_057391.1:p.Leu175Pro, NP_057391.1:p.Leu175Arg, XP_016870292.1:p.Leu115Pro, XP_016870292.1:p.Leu115Arg

Select item 14820390476.

rs1482039047 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:129722282 (GRCh38)
9:132484561 (GRCh37)
Canonical SPDI:: NC_000009.12:129722281:G:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.129722282G>T, NC_000009.11:g.132484561G>T, NM_016307.4:c.692G>T, NM_016307.3:c.692G>T, XM_017014803.1:c.512G>T, NP_057391.1:p.Ser231Ile, XP_016870292.1:p.Ser171Ile

Select item 14781866077.

rs1478186607 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:129719299 (GRCh38)
9:132481578 (GRCh37)
Canonical SPDI:: NC_000009.12:129719298:A:G
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,missense_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129719299A>G, NC_000009.11:g.132481578A>G, NM_016307.4:c.328A>G, NM_016307.3:c.328A>G, XM_017014803.1:c.148A>G, NP_057391.1:p.Thr110Ala, XP_016870292.1:p.Thr50Ala

Select item 14778386848.

rs1477838684 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:129722329 (GRCh38)
9:132484608 (GRCh37)
Canonical SPDI:: NC_000009.12:129722328:A:G
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129722329A>G, NC_000009.11:g.132484608A>G, NM_016307.4:c.739A>G, NM_016307.3:c.739A>G, XM_017014803.1:c.559A>G, NP_057391.1:p.Ser247Gly, XP_016870292.1:p.Ser187Gly

Select item 14715117549.

rs1471511754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:129720716 (GRCh38)
9:132482995 (GRCh37)
Canonical SPDI:: NC_000009.12:129720715:C:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129720716C>T, NC_000009.11:g.132482995C>T, NM_016307.4:c.568C>T, NM_016307.3:c.568C>T, XM_017014803.1:c.388C>T, NP_057391.1:p.Pro190Ser, XP_016870292.1:p.Pro130Ser

Select item 146935562210.

rs1469355622 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:129665873 (GRCh38)
9:132428153 (GRCh37)
Canonical SPDI:: NC_000009.12:129665873:A:AA
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129665874dup, NC_000009.11:g.132428153dup, NM_016307.4:c.7dup, NM_016307.3:c.7dup, NP_057391.1:p.Ser3fs

Select item 146884186711.

rs1468841867 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:129665887 (GRCh38)
9:132428166 (GRCh37)
Canonical SPDI:: NC_000009.12:129665886:C:G
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.129665887C>G, NC_000009.11:g.132428166C>G, NM_016307.4:c.20C>G, NM_016307.3:c.20C>G, NP_057391.1:p.Ala7Gly

Select item 146552785712.

rs1465527857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:129665971 (GRCh38)
9:132428250 (GRCh37)
Canonical SPDI:: NC_000009.12:129665970:G:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000036/1 (GnomAD_exomes)
T=0.000223/1 (Estonian)
HGVS:: NC_000009.12:g.129665971G>T, NC_000009.11:g.132428250G>T, NM_016307.4:c.104G>T, NM_016307.3:c.104G>T, NP_057391.1:p.Arg35Leu

Select item 145936056313.

rs1459360563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129665897 (GRCh38)
9:132428176 (GRCh37)
Canonical SPDI:: NC_000009.12:129665896:G:A
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.129665897G>A, NC_000009.11:g.132428176G>A, NM_016307.4:c.30G>A, NM_016307.3:c.30G>A

Select item 145882673214.

rs1458826732 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:129719407 (GRCh38)
9:132481686 (GRCh37)
Canonical SPDI:: NC_000009.12:129719406:G:T
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000009.12:g.129719407G>T, NC_000009.11:g.132481686G>T, NM_016307.4:c.436G>T, NM_016307.3:c.436G>T, XM_017014803.1:c.256G>T, NP_057391.1:p.Ala146Ser, XP_016870292.1:p.Ala86Ser

Select item 145153657515.

rs1451536575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:129666097 (GRCh38)
9:132428376 (GRCh37)
Canonical SPDI:: NC_000009.12:129666096:G:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.129666097G>T, NC_000009.11:g.132428376G>T, NM_016307.4:c.230G>T, NM_016307.3:c.230G>T, NP_057391.1:p.Ser77Ile

Select item 145026883516.

rs1450268835 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 9:129665889 (GRCh38)
9:132428168 (GRCh37)
Canonical SPDI:: NC_000009.12:129665888:TT:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
HGVS:: NC_000009.12:g.129665890del, NC_000009.11:g.132428169del, NM_016307.4:c.23del, NM_016307.3:c.23del, NP_057391.1:p.Phe8fs

Select item 144873121317.

rs1448731213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:129665938 (GRCh38)
9:132428217 (GRCh37)
Canonical SPDI:: NC_000009.12:129665937:C:G,NC_000009.12:129665937:C:T
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.129665938C>G, NC_000009.12:g.129665938C>T, NC_000009.11:g.132428217C>G, NC_000009.11:g.132428217C>T, NM_016307.4:c.71C>G, NM_016307.4:c.71C>T, NM_016307.3:c.71C>G, NM_016307.3:c.71C>T, NP_057391.1:p.Pro24Arg, NP_057391.1:p.Pro24Leu

Select item 144825154518.

rs1448251545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:129722249 (GRCh38)
9:132484528 (GRCh37)
Canonical SPDI:: NC_000009.12:129722248:G:A
Gene:: PRRX2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000009.12:g.129722249G>A, NC_000009.11:g.132484528G>A, NM_016307.4:c.659G>A, NM_016307.3:c.659G>A, XM_017014803.1:c.479G>A, NP_057391.1:p.Gly220Asp, XP_016870292.1:p.Gly160Asp

Select item 144718916919.

rs1447189169 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 9:129720703 (GRCh38)
9:132482982 (GRCh37)
Canonical SPDI:: NC_000009.12:129720702:G:
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,frameshift_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
HGVS:: NC_000009.12:g.129720703del, NC_000009.11:g.132482982del, NM_016307.4:c.555del, NM_016307.3:c.555del, XM_017014803.1:c.375del, NP_057391.1:p.Glu185fs, XP_016870292.1:p.Glu125fs

Select item 144704402620.

rs1447044026 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:129719396 (GRCh38)
9:132481675 (GRCh37)
Canonical SPDI:: NC_000009.12:129719395:A:C
Gene:: PRRX2 (Varview), PRRX2-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_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.129719396A>C, NC_000009.11:g.132481675A>C, NM_016307.4:c.425A>C, NM_016307.3:c.425A>C, XM_017014803.1:c.245A>C, NP_057391.1:p.Asn142Thr, XP_016870292.1:p.Asn82Thr