SNP Links for Gene (Select 5031) - SNP

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Select item 14915814701.

rs1491581470 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 11:73290365 (GRCh38)
11:73001410 (GRCh37)
Canonical SPDI:: NC_000011.10:73290364:AG:
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000011.10:g.73290365_73290366del, NC_000011.9:g.73001410_73001411del

Select item 14915757672.

rs1491575767 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73290327 (GRCh38)
11:73001372 (GRCh37)
Canonical SPDI:: NC_000011.10:73290325:AGA:A
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.73290327_73290328del, NC_000011.9:g.73001372_73001373del

Select item 14915673663.

rs1491567366 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 11:73296258 (GRCh38)
11:73007303 (GRCh37)
Canonical SPDI:: NC_000011.10:73296257:AA:
Gene:: P2RY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/4 (GnomAD)
HGVS:: NC_000011.10:g.73296258_73296259del, NC_000011.9:g.73007303_73007304del

Select item 14915632614.

rs1491563261 has merged into rs1159993450 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 11:73290355 (GRCh38)
11:73001400 (GRCh37)
Canonical SPDI:: NC_000011.10:73290353:AGA:A,NC_000011.10:73290353:AGA:AGAGA
Gene:: P2RY6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000011.10:g.73290355_73290356del, NC_000011.10:g.73290355_73290356dup, NC_000011.9:g.73001400_73001401del, NC_000011.9:g.73001400_73001401dup

Select item 14915260745.

rs1491526074 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:73297591 (GRCh38)
11:73008637 (GRCh37)
Canonical SPDI:: NC_000011.10:73297591:A:AA
Gene:: P2RY6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.73297592dup, NC_000011.9:g.73008637dup, XM_006718571.4:c.*87dup, XM_006718571.3:c.*87dup, XM_006718571.2:c.*87dup, XM_006718571.1:c.*87dup, XM_005274022.4:c.*87dup, XM_005274022.3:c.*87dup, XM_005274022.2:c.*87dup, XM_005274022.1:c.*87dup, XM_011545076.3:c.*87dup, XM_011545076.2:c.*87dup, XM_011545076.1:c.*87dup, NM_176796.3:c.*87dup, NM_176796.2:c.*87dup, NM_004154.3:c.*87dup, NM_176797.3:c.*87dup, NM_176797.2:c.*87dup, XM_011545079.3:c.*87dup, XM_011545079.2:c.*87dup, XM_011545079.1:c.*87dup, NM_176798.2:c.*87dup, NM_001277205.2:c.*87dup, NM_001277205.1:c.*87dup, NM_001277206.2:c.*87dup, NM_001277206.1:c.*87dup, NM_001277207.2:c.*87dup, NM_001277207.1:c.*87dup, NM_004154.2:c.*87dup, NM_001277204.2:c.*87dup, NM_001277204.1:c.*87dup, XM_047427038.1:c.*87dup, XM_047427036.1:c.*87dup, XM_047427037.1:c.*87dup, NM_001277208.1:c.*87dup, XM_047427039.1:c.*87dup, NM_004154.1:c.*87dup

Select item 14915259846.

rs1491525984 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 11:73290347 (GRCh38)
11:73001392 (GRCh37)
Canonical SPDI:: NC_000011.10:73290345:AGA:A,NC_000011.10:73290345:AGA:AGAGA
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
HGVS:: NC_000011.10:g.73290347_73290348del, NC_000011.10:g.73290347_73290348dup, NC_000011.9:g.73001392_73001393del, NC_000011.9:g.73001392_73001393dup

Select item 14915010847.

rs1491501084 has merged into rs142793721 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 11:73296231 (GRCh38)
11:73007276 (GRCh37)
Canonical SPDI:: NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:73296223:AAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: P2RY6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000011.10:g.73296231_73296234del, NC_000011.10:g.73296232_73296234del, NC_000011.10:g.73296233_73296234del, NC_000011.10:g.73296234del, NC_000011.10:g.73296234dup, NC_000011.10:g.73296233_73296234dup, NC_000011.10:g.73296232_73296234dup, NC_000011.10:g.73296231_73296234dup, NC_000011.10:g.73296230_73296234dup, NC_000011.10:g.73296228_73296234dup, NC_000011.9:g.73007276_73007279del, NC_000011.9:g.73007277_73007279del, NC_000011.9:g.73007278_73007279del, NC_000011.9:g.73007279del, NC_000011.9:g.73007279dup, NC_000011.9:g.73007278_73007279dup, NC_000011.9:g.73007277_73007279dup, NC_000011.9:g.73007276_73007279dup, NC_000011.9:g.73007275_73007279dup, NC_000011.9:g.73007273_73007279dup

Select item 14914856058.

rs1491485605 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73290351 (GRCh38)
11:73001396 (GRCh37)
Canonical SPDI:: NC_000011.10:73290349:AGA:A
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.73290351_73290352del, NC_000011.9:g.73001396_73001397del

Select item 14914366639.

rs1491436663 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73290335 (GRCh38)
11:73001380 (GRCh37)
Canonical SPDI:: NC_000011.10:73290333:AGA:A
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000367/6 (ALFA)
-=0.000302/42 (GnomAD)
HGVS:: NC_000011.10:g.73290335_73290336del, NC_000011.9:g.73001380_73001381del

Select item 149143366910.

rs1491433669 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:73264281 (GRCh38)
11:72975327 (GRCh37)
Canonical SPDI:: NC_000011.10:73264281:A:AA
Gene:: P2RY6 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.73264282dup, NC_000011.9:g.72975327dup

Select item 149142400911.

rs1491424009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA,GGAAAGAAAGAAGGAA,TGAA [Show Flanks]
Chromosome:: 11:73290354 (GRCh38)
11:73001400 (GRCh37)
Canonical SPDI:: NC_000011.10:73290354:GAA:GAAGGAA,NC_000011.10:73290354:GAA:GAAGGAAAGAAAGAAGGAA,NC_000011.10:73290354:GAA:GAATGAA
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAAAGAAAGAAGGAA=0./0 (ALFA)
GAAT=0.000036/1 (TOMMO)
GAAG=0.002185/244 (GnomAD)
HGVS:: NC_000011.10:g.73290357_73290358insGGAA, NC_000011.10:g.73290357_73290358insGGAAAGAAAGAAGGAA, NC_000011.10:g.73290357_73290358insTGAA, NC_000011.9:g.73001402_73001403insGGAA, NC_000011.9:g.73001402_73001403insGGAAAGAAAGAAGGAA, NC_000011.9:g.73001402_73001403insTGAA

Select item 149140667512.

rs1491406675 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:73290322 (GRCh38)
11:73001368 (GRCh37)
Canonical SPDI:: NC_000011.10:73290322:G:GG
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00008/1 (ALFA)
HGVS:: NC_000011.10:g.73290323dup, NC_000011.9:g.73001368dup

Select item 149140648713.

rs1491406487 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73290323 (GRCh38)
11:73001368 (GRCh37)
Canonical SPDI:: NC_000011.10:73290321:AGA:A
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.73290323_73290324del, NC_000011.9:g.73001368_73001369del

Select item 149140376914.

rs1491403769 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGAAAGAAAGAG,AGAG [Show Flanks]
Chromosome:: 11:73290365 (GRCh38)
11:73001411 (GRCh37)
Canonical SPDI:: NC_000011.10:73290365::AGAAAGAAAGAG,NC_000011.10:73290365::AGAG
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
AGAG=0.000004/1 (TOPMED)
AGAAAGAAAGAG=0.000011/1 (GnomAD)
HGVS:: NC_000011.10:g.73290365_73290366insAGAAAGAAAGAG, NC_000011.10:g.73290365_73290366insAGAG, NC_000011.9:g.73001410_73001411insAGAAAGAAAGAG, NC_000011.9:g.73001410_73001411insAGAG

Select item 149140120915.

rs1491401209 has merged into rs11354080 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:73277129 (GRCh38)
11:72988174 (GRCh37)
Canonical SPDI:: NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:73277116:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P2RY6 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0.0001/1 (ALFA)
HGVS:: NC_000011.10:g.73277129_73277131del, NC_000011.10:g.73277130_73277131del, NC_000011.10:g.73277131del, NC_000011.10:g.73277131dup, NC_000011.10:g.73277130_73277131dup, NC_000011.10:g.73277122_73277131dup, NC_000011.9:g.72988174_72988176del, NC_000011.9:g.72988175_72988176del, NC_000011.9:g.72988176del, NC_000011.9:g.72988176dup, NC_000011.9:g.72988175_72988176dup, NC_000011.9:g.72988167_72988176dup

Select item 149132003316.

rs1491320033 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 11:73297591 (GRCh38)
11:73008636 (GRCh37)
Canonical SPDI:: NC_000011.10:73297590:TA:
Gene:: P2RY6 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.73297591_73297592del, NC_000011.9:g.73008636_73008637del, XM_006718571.4:c.*86_*87del, XM_006718571.3:c.*86_*87del, XM_006718571.2:c.*86_*87del, XM_006718571.1:c.*86_*87del, XM_005274022.4:c.*86_*87del, XM_005274022.3:c.*86_*87del, XM_005274022.2:c.*86_*87del, XM_005274022.1:c.*86_*87del, XM_011545076.3:c.*86_*87del, XM_011545076.2:c.*86_*87del, XM_011545076.1:c.*86_*87del, NM_176796.3:c.*86_*87del, NM_176796.2:c.*86_*87del, NM_004154.3:c.*86_*87del, NM_176797.3:c.*86_*87del, NM_176797.2:c.*86_*87del, XM_011545079.3:c.*86_*87del, XM_011545079.2:c.*86_*87del, XM_011545079.1:c.*86_*87del, NM_176798.2:c.*86_*87del, NM_001277205.2:c.*86_*87del, NM_001277205.1:c.*86_*87del, NM_001277206.2:c.*86_*87del, NM_001277206.1:c.*86_*87del, NM_001277207.2:c.*86_*87del, NM_001277207.1:c.*86_*87del, NM_004154.2:c.*86_*87del, NM_001277204.2:c.*86_*87del, NM_001277204.1:c.*86_*87del, XM_047427038.1:c.*86_*87del, XM_047427036.1:c.*86_*87del, XM_047427037.1:c.*86_*87del, NM_001277208.1:c.*86_*87del, XM_047427039.1:c.*86_*87del, NM_004154.1:c.*86_*87del

Select item 149131169617.

rs1491311696 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:73290311 (GRCh38)
11:73001356 (GRCh37)
Canonical SPDI:: NC_000011.10:73290309:AGA:A
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000011.10:g.73290311_73290312del, NC_000011.9:g.73001356_73001357del

Select item 149128079218.

rs1491280792 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:73290330 (GRCh38)
11:73001376 (GRCh37)
Canonical SPDI:: NC_000011.10:73290330:G:GG
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.73290331dup, NC_000011.9:g.73001376dup

Select item 149125650919.

rs1491256509 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:73290326 (GRCh38)
11:73001372 (GRCh37)
Canonical SPDI:: NC_000011.10:73290326:G:GG
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00059/7 (ALFA)
HGVS:: NC_000011.10:g.73290327dup, NC_000011.9:g.73001372dup

Select item 149122806120.

rs1491228061 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:73290334 (GRCh38)
11:73001380 (GRCh37)
Canonical SPDI:: NC_000011.10:73290334:G:GG
Gene:: P2RY6 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000011.10:g.73290335dup, NC_000011.9:g.73001380dup

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