SNP Links for Gene (Select 5311) - SNP

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Select item 14915834511.

rs1491583451 has merged into rs34782103 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 4:88073046 (GRCh38)
4:88994198 (GRCh37)
Canonical SPDI:: NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:88073034:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0777/39 (NorthernSweden)
-=0.2989/1497 (1000Genomes)
HGVS:: NC_000004.12:g.88073046_88073053del, NC_000004.12:g.88073047_88073053del, NC_000004.12:g.88073049_88073053del, NC_000004.12:g.88073050_88073053del, NC_000004.12:g.88073051_88073053del, NC_000004.12:g.88073052_88073053del, NC_000004.12:g.88073053del, NC_000004.12:g.88073053dup, NC_000004.12:g.88073052_88073053dup, NC_000004.12:g.88073051_88073053dup, NC_000004.11:g.88994198_88994205del, NC_000004.11:g.88994199_88994205del, NC_000004.11:g.88994201_88994205del, NC_000004.11:g.88994202_88994205del, NC_000004.11:g.88994203_88994205del, NC_000004.11:g.88994204_88994205del, NC_000004.11:g.88994205del, NC_000004.11:g.88994205dup, NC_000004.11:g.88994204_88994205dup, NC_000004.11:g.88994203_88994205dup, NG_008604.1:g.70379_70386del, NG_008604.1:g.70380_70386del, NG_008604.1:g.70382_70386del, NG_008604.1:g.70383_70386del, NG_008604.1:g.70384_70386del, NG_008604.1:g.70385_70386del, NG_008604.1:g.70386del, NG_008604.1:g.70386dup, NG_008604.1:g.70385_70386dup, NG_008604.1:g.70384_70386dup

Select item 14915410342.

rs1491541034 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14914919833.

rs1491491983 has merged into rs202207351 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTT [Show Flanks]
Chromosome:: 4:88070573 (GRCh38)
4:88991725 (GRCh37)
Canonical SPDI:: NC_000004.12:88070571:TTTT:T,NC_000004.12:88070571:TTTT:TT,NC_000004.12:88070571:TTTT:TTT,NC_000004.12:88070571:TTTT:TTTTTT
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.00619/101 (ALFA)
-=0.23172/412 (Korea1K)
-=0.25922/4344 (TOMMO)
HGVS:: NC_000004.12:g.88070573_88070575del, NC_000004.12:g.88070574_88070575del, NC_000004.12:g.88070575del, NC_000004.12:g.88070574_88070575dup, NC_000004.11:g.88991725_88991727del, NC_000004.11:g.88991726_88991727del, NC_000004.11:g.88991727del, NC_000004.11:g.88991726_88991727dup, NG_008604.1:g.67906_67908del, NG_008604.1:g.67907_67908del, NG_008604.1:g.67908del, NG_008604.1:g.67907_67908dup

Select item 14914450534.

rs1491445053 has merged into rs1166964088 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 4:88055656 (GRCh38)
4:88976808 (GRCh37)
Canonical SPDI:: NC_000004.12:88055655:AA:A,NC_000004.12:88055655:AA:AAA
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
-=0.000023/3 (GnomAD)
HGVS:: NC_000004.12:g.88055657del, NC_000004.12:g.88055657dup, NC_000004.11:g.88976809del, NC_000004.11:g.88976809dup, NG_008604.1:g.52990del, NG_008604.1:g.52990dup

Select item 14914320715.

rs1491432071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:88076984 (GRCh38)
4:88998137 (GRCh37)
Canonical SPDI:: NC_000004.12:88076984:T:TT
Gene:: PKD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88076985dup, NC_000004.11:g.88998137dup, NG_008604.1:g.74318dup, NM_000297.4:c.*1291dup, NM_000297.3:c.*1291dup, NR_156488.2:n.4176dup, NR_156488.1:n.4164dup, XM_011532028.3:c.*1291dup, XM_011532028.2:c.*1291dup, XM_011532028.1:c.*1291dup, XM_011532030.3:c.*1291dup, XM_011532030.2:c.*1291dup, XM_011532030.1:c.*1291dup, XM_011532029.2:c.*1291dup, XM_011532029.1:c.*1291dup

Select item 14914057246.

rs1491405724 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:88073035 (GRCh38)
4:88994188 (GRCh37)
Canonical SPDI:: NC_000004.12:88073035::G
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.00007/1 (ALFA)
G=0.00002/1 (GnomAD)
HGVS:: NC_000004.12:g.88073035_88073036insG, NC_000004.11:g.88994187_88994188insG, NG_008604.1:g.70368_70369insG

Select item 14913916377.

rs1491391637 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 4:88070630 (GRCh38)
4:88991783 (GRCh37)
Canonical SPDI:: NC_000004.12:88070630:G:GG
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.88070631dup, NC_000004.11:g.88991783dup, NG_008604.1:g.67964dup

Select item 14913836458.

rs1491383645 has merged into rs1254772673 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 4:88070643 (GRCh38)
4:88991795 (GRCh37)
Canonical SPDI:: NC_000004.12:88070629:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000004.12:88070629:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000004.12:88070629:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000004.12:88070629:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000004.12:g.88070631GA[6], NC_000004.12:g.88070631GA[7], NC_000004.12:g.88070631GA[9], NC_000004.12:g.88070631GA[10], NC_000004.11:g.88991783GA[6], NC_000004.11:g.88991783GA[7], NC_000004.11:g.88991783GA[9], NC_000004.11:g.88991783GA[10], NG_008604.1:g.67964GA[6], NG_008604.1:g.67964GA[7], NG_008604.1:g.67964GA[9], NG_008604.1:g.67964GA[10]

Select item 14913525769.

rs1491352576 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:88070572 (GRCh38)
4:88991725 (GRCh37)
Canonical SPDI:: NC_000004.12:88070572::A
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00008/1 (ALFA)
A=0.0002/16 (GnomAD)
HGVS:: NC_000004.12:g.88070572_88070573insA, NC_000004.11:g.88991724_88991725insA, NG_008604.1:g.67905_67906insA

Select item 149131956010.

rs1491319560 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 4:88071061 (GRCh38)
4:88992213 (GRCh37)
Canonical SPDI:: NC_000004.12:88071060:CT:
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000004.12:g.88071061_88071062del, NC_000004.11:g.88992213_88992214del, NG_008604.1:g.68394_68395del

Select item 149129123311.

rs1491291233 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGTGTGA [Show Flanks]
Chromosome:: 4:88052605 (GRCh38)
4:88973758 (GRCh37)
Canonical SPDI:: NC_000004.12:88052605:TGTGA:TGTGACAGTGTGA
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGACAGTGTGA=0./0 (ALFA)
TGTGACAG=0.000042/11 (TOPMED)
TGTGACAG=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.88052606_88052610TG[2]ACAGTGTGA[1], NC_000004.11:g.88973758_88973762TG[2]ACAGTGTGA[1], NG_008604.1:g.49939_49943TG[2]ACAGTGTGA[1]

Select item 149128327712.

rs1491283277 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 4:88061748 (GRCh38)
4:88982900 (GRCh37)
Canonical SPDI:: NC_000004.12:88061747:AT:
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000079/11 (GnomAD)
-=0.000102/27 (TOPMED)
HGVS:: NC_000004.12:g.88061748_88061749del, NC_000004.11:g.88982900_88982901del, NG_008604.1:g.59081_59082del

Select item 149113808213.

rs1491138082 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 4:88024457 (GRCh38)
4:88945609 (GRCh37)
Canonical SPDI:: NC_000004.12:88024456:GA:
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00015/6 (GnomAD)
HGVS:: NC_000004.12:g.88024457_88024458del, NC_000004.11:g.88945609_88945610del, NG_008604.1:g.21790_21791del

Select item 149107911514.

rs1491079115 has merged into rs199674454 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 4:88013720 (GRCh38)
4:88934872 (GRCh37)
Canonical SPDI:: NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:88013709:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.0411/24 (NorthernSweden)
AA=0.05205/193 (TWINSUK)
AA=0.05812/224 (ALSPAC)
HGVS:: NC_000004.12:g.88013720_88013723del, NC_000004.12:g.88013722_88013723del, NC_000004.12:g.88013723del, NC_000004.12:g.88013723dup, NC_000004.12:g.88013722_88013723dup, NC_000004.12:g.88013721_88013723dup, NC_000004.12:g.88013720_88013723dup, NC_000004.12:g.88013719_88013723dup, NC_000004.11:g.88934872_88934875del, NC_000004.11:g.88934874_88934875del, NC_000004.11:g.88934875del, NC_000004.11:g.88934875dup, NC_000004.11:g.88934874_88934875dup, NC_000004.11:g.88934873_88934875dup, NC_000004.11:g.88934872_88934875dup, NC_000004.11:g.88934871_88934875dup, NG_008604.1:g.11053_11056del, NG_008604.1:g.11055_11056del, NG_008604.1:g.11056del, NG_008604.1:g.11056dup, NG_008604.1:g.11055_11056dup, NG_008604.1:g.11054_11056dup, NG_008604.1:g.11053_11056dup, NG_008604.1:g.11052_11056dup

Select item 149105143715.

rs1491051437 has merged into rs371293987 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 4:88006187 (GRCh38)
4:88927339 (GRCh37)
Canonical SPDI:: NC_000004.12:88006185:TTT:T
Gene:: PKD2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88006187_88006188del, NC_000004.11:g.88927339_88927340del, NG_008604.1:g.3520_3521del

Select item 149093041916.

rs1490930419 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:88041219 (GRCh38)
4:88962371 (GRCh37)
Canonical SPDI:: NC_000004.12:88041218:G:T
Gene:: PKD2 (Varview)
Functional Consequence:: intron_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.88041219G>T, NC_000004.11:g.88962371G>T, NG_008604.1:g.38552G>T

Select item 149084467917.

rs1490844679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:88010199 (GRCh38)
4:88931351 (GRCh37)
Canonical SPDI:: NC_000004.12:88010198:G:T
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.88010199G>T, NC_000004.11:g.88931351G>T, NG_008604.1:g.7532G>T

Select item 149072846918.

rs1490728469 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 4:88056961 (GRCh38)
4:88978113 (GRCh37)
Canonical SPDI:: NC_000004.12:88056960:TTTTT:TTTT
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88056965del, NC_000004.11:g.88978117del, NG_008604.1:g.54298del

Select item 149066340719.

rs1490663407 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:88050507 (GRCh38)
4:88971659 (GRCh37)
Canonical SPDI:: NC_000004.12:88050506:A:G
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.88050507A>G, NC_000004.11:g.88971659A>G, NG_008604.1:g.47840A>G

Select item 149056139320.

rs1490561393 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:88065113 (GRCh38)
4:88986265 (GRCh37)
Canonical SPDI:: NC_000004.12:88065112:A:C
Gene:: PKD2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.88065113A>C, NC_000004.11:g.88986265A>C, NG_008604.1:g.62446A>C

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