SNP Links for Gene (Select 57575) - SNP

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Select item 14915534031.

rs1491553403 has merged into rs34332814 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATAAATATATATATATA,TATATAAATATATATATTTATATATATATATA,TATATAAATATATATATTTATATATATATATATA,TATATAAATATATATATTTATATATATATATTTATATATATATATA,TATATAAATATATATATTTATATATATATATTTGTATATATGTGTAAATATATAAATATATATATATA,TATATATA [Show Flanks]
Chromosome:: 4:133184781 (GRCh38)
4:134105936 (GRCh37)
Canonical SPDI:: NC_000004.12:133184773:ATATATATATA:ATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATAAATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATAAATATATATATTTATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATAAATATATATATTTATATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATAAATATATATATTTATATATATATATTTGTATATATGTGTAAATATATAAATATATATATATA,NC_000004.12:133184773:ATATATATATA:ATATATATATATATA
Gene:: PCDH10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
-=0.227/1137 (1000Genomes)
-=0.2733/164 (NorthernSweden)
HGVS:: NC_000004.12:g.133184775TA[3], NC_000004.12:g.133184775TA[4], NC_000004.12:g.133184775TA[6], NC_000004.12:g.133184774_133184784AT[6]AAATATATATATATA[1], NC_000004.12:g.133184774_133184784AT[6]AAATATATATATTTATATATATATATA[1], NC_000004.12:g.133184774_133184784AT[6]AAATATATATATTTATATATATATATATA[1], NC_000004.12:g.133184774_133184784AT[6]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000004.12:g.133184774_133184784AT[6]AAATATATATATTTATATATATATATTTGTATATATGTGTAAATATATAAATATATATATATA[1], NC_000004.12:g.133184775TA[7], NC_000004.11:g.134105930TA[3], NC_000004.11:g.134105930TA[4], NC_000004.11:g.134105930TA[6], NC_000004.11:g.134105929_134105939AT[6]AAATATATATATATA[1], NC_000004.11:g.134105929_134105939AT[6]AAATATATATATTTATATATATATATA[1], NC_000004.11:g.134105929_134105939AT[6]AAATATATATATTTATATATATATATATA[1], NC_000004.11:g.134105929_134105939AT[6]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000004.11:g.134105929_134105939AT[6]AAATATATATATTTATATATATATATTTGTATATATGTGTAAATATATAAATATATATATATA[1], NC_000004.11:g.134105930TA[7]

Select item 14913563992.

rs1491356399 has merged into rs386401538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAAA [Show Flanks]
Chromosome:: 4:133184785 (GRCh38)
4:134105940 (GRCh37)
Canonical SPDI:: NC_000004.12:133184783:AAA:A,NC_000004.12:133184783:AAA:AA,NC_000004.12:133184783:AAA:AAAAA
Gene:: PCDH10 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000004.12:g.133184785_133184786del, NC_000004.12:g.133184786del, NC_000004.12:g.133184785_133184786dup, NC_000004.11:g.134105940_134105941del, NC_000004.11:g.134105941del, NC_000004.11:g.134105940_134105941dup

Select item 14910960843.

rs1491096084 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 4:133199325 (GRCh38)
4:134120480 (GRCh37)
Canonical SPDI:: NC_000004.12:133199323:ATA:A
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.133199325_133199326del, NC_000004.11:g.134120480_134120481del

Select item 14909832254.

rs1490983225 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:133161580 (GRCh38)
4:134082735 (GRCh37)
Canonical SPDI:: NC_000004.12:133161579:G:A
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.133161580G>A, NC_000004.11:g.134082735G>A

Select item 14909466985.

rs1490946698 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:133173747 (GRCh38)
4:134094902 (GRCh37)
Canonical SPDI:: NC_000004.12:133173746:CA:
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00033/5 (ALFA)
HGVS:: NC_000004.12:g.133173747_133173748del, NC_000004.11:g.134094902_134094903del

Select item 14909379616.

rs1490937961 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:133201708 (GRCh38)
4:134122863 (GRCh37)
Canonical SPDI:: NC_000004.12:133201707:T:C
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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_000004.12:g.133201708T>C, NC_000004.11:g.134122863T>C

Select item 14909189217.

rs1490918921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:133186987 (GRCh38)
4:134108142 (GRCh37)
Canonical SPDI:: NC_000004.12:133186986:G:A,NC_000004.12:133186986:G:T
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
T=0.000342/1 (KOREAN)
HGVS:: NC_000004.12:g.133186987G>A, NC_000004.12:g.133186987G>T, NC_000004.11:g.134108142G>A, NC_000004.11:g.134108142G>T

Select item 14908676178.

rs1490867617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:133185906 (GRCh38)
4:134107061 (GRCh37)
Canonical SPDI:: NC_000004.12:133185905:G:A
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000004.12:g.133185906G>A, NC_000004.11:g.134107061G>A

Select item 14908133419.

rs1490813341 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:133194925 (GRCh38)
4:134116080 (GRCh37)
Canonical SPDI:: NC_000004.12:133194924:T:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_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.133194925T>G, NC_000004.11:g.134116080T>G

Select item 149074733510.

rs1490747335 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:133162525 (GRCh38)
4:134083680 (GRCh37)
Canonical SPDI:: NC_000004.12:133162524:T:C,NC_000004.12:133162524:T:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.133162525T>C, NC_000004.12:g.133162525T>G, NC_000004.11:g.134083680T>C, NC_000004.11:g.134083680T>G

Select item 149073390311.

rs1490733903 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:133178083 (GRCh38)
4:134099238 (GRCh37)
Canonical SPDI:: NC_000004.12:133178082:C:T
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.133178083C>T, NC_000004.11:g.134099238C>T

Select item 149062801312.

rs1490628013 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 4:133154295 (GRCh38)
4:134075450 (GRCh37)
Canonical SPDI:: NC_000004.12:133154294:TTTTTTT:TTTTTT,NC_000004.12:133154294:TTTTTTT:TTTTTTTT
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.133154301del, NC_000004.12:g.133154301dup, NC_000004.11:g.134075456del, NC_000004.11:g.134075456dup

Select item 149057126913.

rs1490571269 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:133172494 (GRCh38)
4:134093649 (GRCh37)
Canonical SPDI:: NC_000004.12:133172493:G:A
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.133172494G>A, NC_000004.11:g.134093649G>A

Select item 149054480614.

rs1490544806 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:133208131 (GRCh38)
4:134129286 (GRCh37)
Canonical SPDI:: NC_000004.12:133208130:G:A
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_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_000004.12:g.133208131G>A, NC_000004.11:g.134129286G>A, XM_011532150.2:c.3159G>A, XM_011532150.1:c.3159G>A

Select item 149049617115.

rs1490496171 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:133193203 (GRCh38)
4:134114358 (GRCh37)
Canonical SPDI:: NC_000004.12:133193202:A:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.133193203A>G, NC_000004.11:g.134114358A>G, NM_032961.3:c.*3043A>G, NM_032961.2:c.*3043A>G

Select item 149038661816.

rs1490386618 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:133153496 (GRCh38)
4:134074651 (GRCh37)
Canonical SPDI:: NC_000004.12:133153495:C:T
Gene:: PCDH10 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.133153496C>T, NC_000004.11:g.134074651C>T, NM_020815.3:c.*665C>T, NM_020815.2:c.*665C>T

Select item 149037941717.

rs1490379417 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:133186401 (GRCh38)
4:134107556 (GRCh37)
Canonical SPDI:: NC_000004.12:133186400:C:T
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_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.133186401C>T, NC_000004.11:g.134107556C>T

Select item 149033354818.

rs1490333548 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:133192027 (GRCh38)
4:134113182 (GRCh37)
Canonical SPDI:: NC_000004.12:133192026:A:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.133192027A>G, NC_000004.11:g.134113182A>G, NM_032961.3:c.*1867A>G, NM_032961.2:c.*1867A>G

Select item 149032442019.

rs1490324420 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 4:133195329 (GRCh38)
4:134116484 (GRCh37)
Canonical SPDI:: NC_000004.12:133195328:GG:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.133195330del, NC_000004.11:g.134116485del

Select item 149030747120.

rs1490307471 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:133194398 (GRCh38)
4:134115553 (GRCh37)
Canonical SPDI:: NC_000004.12:133194397:A:G
Gene:: PCDH10 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.133194398A>G, NC_000004.11:g.134115553A>G, NM_032961.3:c.*4238A>G, NM_032961.2:c.*4238A>G

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