SNP Links for Gene (Select 5308) - SNP

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Select item 14913890161.

rs1491389016 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:110631412 (GRCh38)
4:111552569 (GRCh37)
Canonical SPDI:: NC_000004.12:110631412:G:GG
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000004.12:g.110631413dup, NC_000004.11:g.111552569dup, NG_007120.1:g.10940dup

Select item 14912419262.

rs1491241926 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 4:110631414 (GRCh38)
4:111552570 (GRCh37)
Canonical SPDI:: NC_000004.12:110631411:TGTG:TG
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTG=0.02866/340 (ALFA)
-=0.00022/6 (TOMMO)
HGVS:: NC_000004.12:g.110631412TG[1], NC_000004.11:g.111552568TG[1], NG_007120.1:g.10938CA[1]

Select item 14911892563.

rs1491189256 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG [Show Flanks]
Chromosome:: 4:110631415 (GRCh38)
4:111552572 (GRCh37)
Canonical SPDI:: NC_000004.12:110631415:G:GAG
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAG=0./0 (ALFA)
GA=0.04995/91 (GnomAD)
HGVS:: NC_000004.12:g.110631416_110631417insAG, NC_000004.11:g.111552572_111552573insAG, NG_007120.1:g.10937_10938insTC

Select item 14910230504.

rs1491023050 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG,TG [Show Flanks]
Chromosome:: 4:110631416 (GRCh38)
4:111552573 (GRCh37)
Canonical SPDI:: NC_000004.12:110631416:G:GCG,NC_000004.12:110631416:G:GTG
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
GC=0.0006/9 (TOMMO)
HGVS:: NC_000004.12:g.110631417_110631418insCG, NC_000004.12:g.110631417_110631418insTG, NC_000004.11:g.111552573_111552574insCG, NC_000004.11:g.111552573_111552574insTG, NG_007120.1:g.10936_10937insGC, NG_007120.1:g.10936_10937insAC

Select item 14907783685.

rs1490778368 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110620979 (GRCh38)
4:111542135 (GRCh37)
Canonical SPDI:: NC_000004.12:110620978:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.110620979C>T, NC_000004.11:g.111542135C>T, NG_007120.1:g.21374G>A

Select item 14907435566.

rs1490743556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110625254 (GRCh38)
4:111546410 (GRCh37)
Canonical SPDI:: NC_000004.12:110625253:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.110625254C>T, NC_000004.11:g.111546410C>T, NG_007120.1:g.17099G>A

Select item 14906997967.

rs1490699796 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110640014 (GRCh38)
4:111561170 (GRCh37)
Canonical SPDI:: NC_000004.12:110640013:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000004.12:g.110640014G>A, NC_000004.11:g.111561170G>A, NG_007120.1:g.2339C>T

Select item 14905895398.

rs1490589539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110622479 (GRCh38)
4:111543635 (GRCh37)
Canonical SPDI:: NC_000004.12:110622478:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00002/3 (GnomAD_exomes)
T=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.110622479C>T, NC_000004.11:g.111543635C>T, NG_007120.1:g.19874G>A, NM_000325.6:c.-19G>A, NM_000325.5:c.-19G>A

Select item 14905661559.

rs1490566155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:110630870 (GRCh38)
4:111552026 (GRCh37)
Canonical SPDI:: NC_000004.12:110630869:C:A
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.110630870C>A, NC_000004.11:g.111552026C>A, NG_007120.1:g.11483G>T

Select item 149021459810.

rs1490214598 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:110617170 (GRCh38)
4:111538326 (GRCh37)
Canonical SPDI:: NC_000004.12:110617169:T:A
Gene:: PITX2 (Varview), PANCR (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.110617170T>A, NC_000004.11:g.111538326T>A, NG_007120.1:g.25183A>T

Select item 149019093411.

rs1490190934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:110631152 (GRCh38)
4:111552308 (GRCh37)
Canonical SPDI:: NC_000004.12:110631151:C:G
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000004.12:g.110631152C>G, NC_000004.11:g.111552308C>G, NG_007120.1:g.11201G>C

Select item 149012735812.

rs1490127358 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110618173 (GRCh38)
4:111539329 (GRCh37)
Canonical SPDI:: NC_000004.12:110618172:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.110618173C>T, NC_000004.11:g.111539329C>T, NG_007120.1:g.24180G>A, NM_000325.6:c.927G>A, NM_000325.5:c.927G>A, NM_153426.3:c.906G>A, NM_153426.2:c.906G>A, NM_153427.3:c.768G>A, NM_153427.2:c.768G>A, NM_001204397.2:c.906G>A, NM_001204397.1:c.906G>A, NM_001204398.1:c.906G>A, NM_001204399.1:c.768G>A, XM_024454090.2:c.573G>A, XM_024454090.1:c.573G>A

Select item 148989867813.

rs1489898678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110639536 (GRCh38)
4:111560692 (GRCh37)
Canonical SPDI:: NC_000004.12:110639535:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.110639536C>T, NC_000004.11:g.111560692C>T, NG_007120.1:g.2817G>A

Select item 148974787714.

rs1489747877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:110622231 (GRCh38)
4:111543387 (GRCh37)
Canonical SPDI:: NC_000004.12:110622230:T:C
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000004.12:g.110622231T>C, NC_000004.11:g.111543387T>C, NG_007120.1:g.20122A>G

Select item 148960484715.

rs1489604847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:110631415 (GRCh38)
4:111552571 (GRCh37)
Canonical SPDI:: NC_000004.12:110631414:G:A,NC_000004.12:110631414:G:T
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00329/6 (GnomAD)
HGVS:: NC_000004.12:g.110631415G>A, NC_000004.12:g.110631415G>T, NC_000004.11:g.111552571G>A, NC_000004.11:g.111552571G>T, NG_007120.1:g.10938C>T, NG_007120.1:g.10938C>A

Select item 148958837516.

rs1489588375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:110633521 (GRCh38)
4:111554677 (GRCh37)
Canonical SPDI:: NC_000004.12:110633520:T:G
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.110633521T>G, NC_000004.11:g.111554677T>G, NG_007120.1:g.8832A>C

Select item 148938983117.

rs1489389831 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:110628381 (GRCh38)
4:111549537 (GRCh37)
Canonical SPDI:: NC_000004.12:110628380:G:A
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.110628381G>A, NC_000004.11:g.111549537G>A, NG_007120.1:g.13972C>T

Select item 148935465918.

rs1489354659 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:110641969 (GRCh38)
4:111563125 (GRCh37)
Canonical SPDI:: NC_000004.12:110641968:G:T
Gene:: PITX2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_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_000004.12:g.110641969G>T, NC_000004.11:g.111563125G>T, NG_007120.1:g.384C>A, NM_153427.2:c.-1435C>A, NM_001204398.1:c.-61C>A, NM_001204399.1:c.-61C>A, NM_153426.2:c.-1435C>A, NM_001204397.1:c.-1669C>A

Select item 148935070119.

rs1489350701 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:110618333 (GRCh38)
4:111539489 (GRCh37)
Canonical SPDI:: NC_000004.12:110618332:C:T
Gene:: PITX2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000008/2 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000004.12:g.110618333C>T, NC_000004.11:g.111539489C>T, NG_007120.1:g.24020G>A, NM_000325.6:c.767G>A, NM_000325.5:c.767G>A, NM_153426.3:c.746G>A, NM_153426.2:c.746G>A, NM_153427.3:c.608G>A, NM_153427.2:c.608G>A, NM_001204397.2:c.746G>A, NM_001204397.1:c.746G>A, NM_001204398.1:c.746G>A, NM_001204399.1:c.608G>A, XM_024454090.2:c.413G>A, XM_024454090.1:c.413G>A, NP_000316.2:p.Ser256Asn, NP_700475.1:p.Ser249Asn, NP_700476.1:p.Ser203Asn, NP_001191326.1:p.Ser249Asn, NP_001191327.1:p.Ser249Asn, NP_001191328.1:p.Ser203Asn, XP_024309858.1:p.Ser138Asn

Select item 148932097520.

rs1489320975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:110619032 (GRCh38)
4:111540188 (GRCh37)
Canonical SPDI:: NC_000004.12:110619031:G:C
Gene:: PITX2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000004.12:g.110619032G>C, NC_000004.11:g.111540188G>C, NG_007120.1:g.23321C>G

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