SNP Links for Gene (Select 342372) - SNP

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Select item 14915769151.

rs1491576915 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:71997409 (GRCh38)
16:72031309 (GRCh37)
Canonical SPDI:: NC_000016.10:71997409:G:GG
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000016.10:g.71997410dup, NC_000016.9:g.72031309dup, NG_032958.1:g.7569dup

Select item 14915693232.

rs1491569323 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:71945399 (GRCh38)
16:71979303 (GRCh37)
Canonical SPDI:: NC_000016.10:71945399::A
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00256/31 (GnomAD)
HGVS:: NC_000016.10:g.71945399_71945400insA, NC_000016.9:g.71979302_71979303insA, NG_032958.1:g.59579_59580insT

Select item 14915643343.

rs1491564334 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:71974001 (GRCh38)
16:72007900 (GRCh37)
Canonical SPDI:: NC_000016.10:71974000:CA:
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000016.10:g.71974001_71974002del, NC_000016.9:g.72007900_72007901del, NG_032958.1:g.30977_30978del

Select item 14915519984.

rs1491551998 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:71958780 (GRCh38)
16:71992679 (GRCh37)
Canonical SPDI:: NC_000016.10:71958779:CA:
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00006/2 (GnomAD)
HGVS:: NC_000016.10:g.71958780_71958781del, NC_000016.9:g.71992679_71992680del, NG_032958.1:g.46198_46199del

Select item 14915377915.

rs1491537791 has merged into rs35792953 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 16:72000619 (GRCh38)
16:72034518 (GRCh37)
Canonical SPDI:: NC_000016.10:72000609:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:72000609:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:72000609:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:72000609:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:72000609:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: PKD1L3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1359/81 (NorthernSweden)
T=0.1783/893 (1000Genomes)
HGVS:: NC_000016.10:g.72000619_72000625del, NC_000016.10:g.72000623_72000625del, NC_000016.10:g.72000624_72000625del, NC_000016.10:g.72000625del, NC_000016.10:g.72000625dup, NC_000016.9:g.72034518_72034524del, NC_000016.9:g.72034522_72034524del, NC_000016.9:g.72034523_72034524del, NC_000016.9:g.72034524del, NC_000016.9:g.72034524dup, NG_032958.1:g.4363_4369del, NG_032958.1:g.4367_4369del, NG_032958.1:g.4368_4369del, NG_032958.1:g.4369del, NG_032958.1:g.4369dup

Select item 14915020396.

rs1491502039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:71996278 (GRCh38)
16:72030178 (GRCh37)
Canonical SPDI:: NC_000016.10:71996278:C:CC
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000016.10:g.71996279dup, NC_000016.9:g.72030178dup, NG_032958.1:g.8700dup

Select item 14914872067.

rs1491487206 has merged into rs35324670 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:71982287 (GRCh38)
16:72016186 (GRCh37)
Canonical SPDI:: NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71982278:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.02276/114 (1000Genomes)
HGVS:: NC_000016.10:g.71982287_71982301del, NC_000016.10:g.71982289_71982301del, NC_000016.10:g.71982290_71982301del, NC_000016.10:g.71982291_71982301del, NC_000016.10:g.71982292_71982301del, NC_000016.10:g.71982293_71982301del, NC_000016.10:g.71982294_71982301del, NC_000016.10:g.71982295_71982301del, NC_000016.10:g.71982296_71982301del, NC_000016.10:g.71982297_71982301del, NC_000016.10:g.71982298_71982301del, NC_000016.10:g.71982299_71982301del, NC_000016.10:g.71982300_71982301del, NC_000016.10:g.71982301del, NC_000016.10:g.71982301dup, NC_000016.10:g.71982300_71982301dup, NC_000016.10:g.71982299_71982301dup, NC_000016.10:g.71982298_71982301dup, NC_000016.10:g.71982297_71982301dup, NC_000016.10:g.71982296_71982301dup, NC_000016.10:g.71982295_71982301dup, NC_000016.10:g.71982294_71982301dup, NC_000016.10:g.71982293_71982301dup, NC_000016.10:g.71982292_71982301dup, NC_000016.10:g.71982289_71982301dup, NC_000016.10:g.71982279_71982301dup, NC_000016.9:g.72016186_72016200del, NC_000016.9:g.72016188_72016200del, NC_000016.9:g.72016189_72016200del, NC_000016.9:g.72016190_72016200del, NC_000016.9:g.72016191_72016200del, NC_000016.9:g.72016192_72016200del, NC_000016.9:g.72016193_72016200del, NC_000016.9:g.72016194_72016200del, NC_000016.9:g.72016195_72016200del, NC_000016.9:g.72016196_72016200del, NC_000016.9:g.72016197_72016200del, NC_000016.9:g.72016198_72016200del, NC_000016.9:g.72016199_72016200del, NC_000016.9:g.72016200del, NC_000016.9:g.72016200dup, NC_000016.9:g.72016199_72016200dup, NC_000016.9:g.72016198_72016200dup, NC_000016.9:g.72016197_72016200dup, NC_000016.9:g.72016196_72016200dup, NC_000016.9:g.72016195_72016200dup, NC_000016.9:g.72016194_72016200dup, NC_000016.9:g.72016193_72016200dup, NC_000016.9:g.72016192_72016200dup, NC_000016.9:g.72016191_72016200dup, NC_000016.9:g.72016188_72016200dup, NC_000016.9:g.72016178_72016200dup, NG_032958.1:g.22686_22700del, NG_032958.1:g.22688_22700del, NG_032958.1:g.22689_22700del, NG_032958.1:g.22690_22700del, NG_032958.1:g.22691_22700del, NG_032958.1:g.22692_22700del, NG_032958.1:g.22693_22700del, NG_032958.1:g.22694_22700del, NG_032958.1:g.22695_22700del, NG_032958.1:g.22696_22700del, NG_032958.1:g.22697_22700del, NG_032958.1:g.22698_22700del, NG_032958.1:g.22699_22700del, NG_032958.1:g.22700del, NG_032958.1:g.22700dup, NG_032958.1:g.22699_22700dup, NG_032958.1:g.22698_22700dup, NG_032958.1:g.22697_22700dup, NG_032958.1:g.22696_22700dup, NG_032958.1:g.22695_22700dup, NG_032958.1:g.22694_22700dup, NG_032958.1:g.22693_22700dup, NG_032958.1:g.22692_22700dup, NG_032958.1:g.22691_22700dup, NG_032958.1:g.22688_22700dup, NG_032958.1:g.22678_22700dup

Select item 14914847218.

rs1491484721 has merged into rs1180950058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:71983672 (GRCh38)
16:72017571 (GRCh37)
Canonical SPDI:: NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:71983663:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.71983672_71983685del, NC_000016.10:g.71983673_71983685del, NC_000016.10:g.71983674_71983685del, NC_000016.10:g.71983675_71983685del, NC_000016.10:g.71983676_71983685del, NC_000016.10:g.71983678_71983685del, NC_000016.10:g.71983680_71983685del, NC_000016.10:g.71983681_71983685del, NC_000016.10:g.71983682_71983685del, NC_000016.10:g.71983683_71983685del, NC_000016.10:g.71983684_71983685del, NC_000016.10:g.71983685del, NC_000016.10:g.71983685dup, NC_000016.10:g.71983684_71983685dup, NC_000016.10:g.71983683_71983685dup, NC_000016.10:g.71983682_71983685dup, NC_000016.10:g.71983681_71983685dup, NC_000016.10:g.71983680_71983685dup, NC_000016.10:g.71983679_71983685dup, NC_000016.10:g.71983678_71983685dup, NC_000016.10:g.71983677_71983685dup, NC_000016.10:g.71983676_71983685dup, NC_000016.10:g.71983675_71983685dup, NC_000016.10:g.71983674_71983685dup, NC_000016.10:g.71983673_71983685dup, NC_000016.10:g.71983670_71983685dup, NC_000016.10:g.71983669_71983685dup, NC_000016.10:g.71983668_71983685dup, NC_000016.10:g.71983667_71983685dup, NC_000016.10:g.71983666_71983685dup, NC_000016.10:g.71983665_71983685dup, NC_000016.10:g.71983664_71983685dup, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.71983685_71983686insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017571_72017584del, NC_000016.9:g.72017572_72017584del, NC_000016.9:g.72017573_72017584del, NC_000016.9:g.72017574_72017584del, NC_000016.9:g.72017575_72017584del, NC_000016.9:g.72017577_72017584del, NC_000016.9:g.72017579_72017584del, NC_000016.9:g.72017580_72017584del, NC_000016.9:g.72017581_72017584del, NC_000016.9:g.72017582_72017584del, NC_000016.9:g.72017583_72017584del, NC_000016.9:g.72017584del, NC_000016.9:g.72017584dup, NC_000016.9:g.72017583_72017584dup, NC_000016.9:g.72017582_72017584dup, NC_000016.9:g.72017581_72017584dup, NC_000016.9:g.72017580_72017584dup, NC_000016.9:g.72017579_72017584dup, NC_000016.9:g.72017578_72017584dup, NC_000016.9:g.72017577_72017584dup, NC_000016.9:g.72017576_72017584dup, NC_000016.9:g.72017575_72017584dup, NC_000016.9:g.72017574_72017584dup, NC_000016.9:g.72017573_72017584dup, NC_000016.9:g.72017572_72017584dup, NC_000016.9:g.72017569_72017584dup, NC_000016.9:g.72017568_72017584dup, NC_000016.9:g.72017567_72017584dup, NC_000016.9:g.72017566_72017584dup, NC_000016.9:g.72017565_72017584dup, NC_000016.9:g.72017564_72017584dup, NC_000016.9:g.72017563_72017584dup, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72017584_72017585insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_032958.1:g.21302_21315del, NG_032958.1:g.21303_21315del, NG_032958.1:g.21304_21315del, NG_032958.1:g.21305_21315del, NG_032958.1:g.21306_21315del, NG_032958.1:g.21308_21315del, NG_032958.1:g.21310_21315del, NG_032958.1:g.21311_21315del, NG_032958.1:g.21312_21315del, NG_032958.1:g.21313_21315del, NG_032958.1:g.21314_21315del, NG_032958.1:g.21315del, NG_032958.1:g.21315dup, NG_032958.1:g.21314_21315dup, NG_032958.1:g.21313_21315dup, NG_032958.1:g.21312_21315dup, NG_032958.1:g.21311_21315dup, NG_032958.1:g.21310_21315dup, NG_032958.1:g.21309_21315dup, NG_032958.1:g.21308_21315dup, NG_032958.1:g.21307_21315dup, NG_032958.1:g.21306_21315dup, NG_032958.1:g.21305_21315dup, NG_032958.1:g.21304_21315dup, NG_032958.1:g.21303_21315dup, NG_032958.1:g.21300_21315dup, NG_032958.1:g.21299_21315dup, NG_032958.1:g.21298_21315dup, NG_032958.1:g.21297_21315dup, NG_032958.1:g.21296_21315dup, NG_032958.1:g.21295_21315dup, NG_032958.1:g.21294_21315dup, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.21315_21316insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914838139.

rs1491483813 has merged into rs67658205 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGT>-,GTGT,GTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:71978489 (GRCh38)
16:72012388 (GRCh37)
Canonical SPDI:: NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000016.10:71978475:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.02333/14 (NorthernSweden)
TGTGTGTGTGTG=0.20347/1019 (1000Genomes)
TGTGTGTG=0.47976/1849 (ALSPAC)
TGTGTGTG=0.49056/1819 (TWINSUK)
HGVS:: NC_000016.10:g.71978477GT[6], NC_000016.10:g.71978477GT[8], NC_000016.10:g.71978477GT[9], NC_000016.10:g.71978477GT[11], NC_000016.10:g.71978477GT[12], NC_000016.10:g.71978477GT[13], NC_000016.10:g.71978477GT[14], NC_000016.10:g.71978477GT[15], NC_000016.10:g.71978477GT[16], NC_000016.10:g.71978477GT[17], NC_000016.10:g.71978477GT[18], NC_000016.9:g.72012376GT[6], NC_000016.9:g.72012376GT[8], NC_000016.9:g.72012376GT[9], NC_000016.9:g.72012376GT[11], NC_000016.9:g.72012376GT[12], NC_000016.9:g.72012376GT[13], NC_000016.9:g.72012376GT[14], NC_000016.9:g.72012376GT[15], NC_000016.9:g.72012376GT[16], NC_000016.9:g.72012376GT[17], NC_000016.9:g.72012376GT[18], NG_032958.1:g.26484CA[6], NG_032958.1:g.26484CA[8], NG_032958.1:g.26484CA[9], NG_032958.1:g.26484CA[11], NG_032958.1:g.26484CA[12], NG_032958.1:g.26484CA[13], NG_032958.1:g.26484CA[14], NG_032958.1:g.26484CA[15], NG_032958.1:g.26484CA[16], NG_032958.1:g.26484CA[17], NG_032958.1:g.26484CA[18]

Select item 149146203910.

rs1491462039 [Homo sapiens]

Variant type:: INS
Alleles:: ->AC [Show Flanks]
Chromosome:: 16:71978476 (GRCh38)
16:72012376 (GRCh37)
Canonical SPDI:: NC_000016.10:71978476::AC
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AC=0./0 (ALFA)
AC=0.00008/1 (GnomAD)
HGVS:: NC_000016.10:g.71978476_71978477insAC, NC_000016.9:g.72012375_72012376insAC, NG_032958.1:g.26502_26503insGT

Select item 149146057811.

rs1491460578 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:71996279 (GRCh38)
16:72030178 (GRCh37)
Canonical SPDI:: NC_000016.10:71996277:TCT:T
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00042/5 (ALFA)
-=0.00007/2 (TOMMO)
HGVS:: NC_000016.10:g.71996279_71996280del, NC_000016.9:g.72030178_72030179del, NG_032958.1:g.8700_8701del

Select item 149144083812.

rs1491440838 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:71996951 (GRCh38)
16:72030850 (GRCh37)
Canonical SPDI:: NC_000016.10:71996950:AT:
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000016.10:g.71996951_71996952del, NC_000016.9:g.72030850_72030851del, NG_032958.1:g.8027_8028del

Select item 149144044413.

rs1491440444 has merged into rs34692174 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:71990094 (GRCh38)
16:72023993 (GRCh37)
Canonical SPDI:: NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:71990085:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
-=0.4778/2393 (1000Genomes)
HGVS:: NC_000016.10:g.71990094_71990105del, NC_000016.10:g.71990098_71990105del, NC_000016.10:g.71990099_71990105del, NC_000016.10:g.71990101_71990105del, NC_000016.10:g.71990102_71990105del, NC_000016.10:g.71990103_71990105del, NC_000016.10:g.71990104_71990105del, NC_000016.10:g.71990105del, NC_000016.10:g.71990105dup, NC_000016.10:g.71990104_71990105dup, NC_000016.10:g.71990103_71990105dup, NC_000016.10:g.71990102_71990105dup, NC_000016.10:g.71990105_71990106insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.72023993_72024004del, NC_000016.9:g.72023997_72024004del, NC_000016.9:g.72023998_72024004del, NC_000016.9:g.72024000_72024004del, NC_000016.9:g.72024001_72024004del, NC_000016.9:g.72024002_72024004del, NC_000016.9:g.72024003_72024004del, NC_000016.9:g.72024004del, NC_000016.9:g.72024004dup, NC_000016.9:g.72024003_72024004dup, NC_000016.9:g.72024002_72024004dup, NC_000016.9:g.72024001_72024004dup, NC_000016.9:g.72024004_72024005insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032958.1:g.14882_14893del, NG_032958.1:g.14886_14893del, NG_032958.1:g.14887_14893del, NG_032958.1:g.14889_14893del, NG_032958.1:g.14890_14893del, NG_032958.1:g.14891_14893del, NG_032958.1:g.14892_14893del, NG_032958.1:g.14893del, NG_032958.1:g.14893dup, NG_032958.1:g.14892_14893dup, NG_032958.1:g.14891_14893dup, NG_032958.1:g.14890_14893dup, NG_032958.1:g.14893_14894insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149143551414.

rs1491435514 has merged into rs869066270 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:71983663 (GRCh38)
16:72017562 (GRCh37)
Canonical SPDI:: NC_000016.10:71983661:TCT:T
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.04999/593 (ALFA)
-=0.0008/13 (TOMMO)
-=0.01096/20 (Korea1K)
-=0.09007/8508 (GnomAD)
HGVS:: NC_000016.10:g.71983663_71983664del, NC_000016.9:g.72017562_72017563del, NG_032958.1:g.21316_21317del

Select item 149142048715.

rs1491420487 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:71944700 (GRCh38)
16:71978604 (GRCh37)
Canonical SPDI:: NC_000016.10:71944700:G:GG
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.00006/4 (GnomAD)
HGVS:: NC_000016.10:g.71944701dup, NC_000016.9:g.71978604dup, NG_032958.1:g.60278dup

Select item 149141720016.

rs1491417200 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 16:71944701 (GRCh38)
16:71978604 (GRCh37)
Canonical SPDI:: NC_000016.10:71944699:TGT:T
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.71944701_71944702del, NC_000016.9:g.71978604_71978605del, NG_032958.1:g.60278_60279del

Select item 149140809517.

rs1491408095 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:71947918 (GRCh38)
16:71981818 (GRCh37)
Canonical SPDI:: NC_000016.10:71947918:T:TT
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000013/1 (GnomAD)
HGVS:: NC_000016.10:g.71947919dup, NC_000016.9:g.71981818dup, NG_032958.1:g.57060dup

Select item 149139329318.

rs1491393293 has merged into rs113598590 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC [Show Flanks]
Chromosome:: 16:71997420 (GRCh38)
16:72031319 (GRCh37)
Canonical SPDI:: NC_000016.10:71997411:CCCCCCCCCCC:CCCCCCCC,NC_000016.10:71997411:CCCCCCCCCCC:CCCCCCCCC,NC_000016.10:71997411:CCCCCCCCCCC:CCCCCCCCCC,NC_000016.10:71997411:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000016.10:71997411:CCCCCCCCCCC:CCCCCCCCCCCCC
Gene:: PKD1L3 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCC=0./0 (ALFA)
-=0.3684/14 (GENOME_DK)
C=0.404/2023 (1000Genomes)
HGVS:: NC_000016.10:g.71997420_71997422del, NC_000016.10:g.71997421_71997422del, NC_000016.10:g.71997422del, NC_000016.10:g.71997422dup, NC_000016.10:g.71997421_71997422dup, NC_000016.9:g.72031319_72031321del, NC_000016.9:g.72031320_72031321del, NC_000016.9:g.72031321del, NC_000016.9:g.72031321dup, NC_000016.9:g.72031320_72031321dup, NG_032958.1:g.7565_7567del, NG_032958.1:g.7566_7567del, NG_032958.1:g.7567del, NG_032958.1:g.7567dup, NG_032958.1:g.7566_7567dup

Select item 149139185519.

rs1491391855 has merged into rs200363488 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:71950747 (GRCh38)
16:71984646 (GRCh37)
Canonical SPDI:: NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:71950737:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PKD1L3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.374/1873 (1000Genomes)
HGVS:: NC_000016.10:g.71950747_71950751del, NC_000016.10:g.71950748_71950751del, NC_000016.10:g.71950749_71950751del, NC_000016.10:g.71950750_71950751del, NC_000016.10:g.71950751del, NC_000016.10:g.71950751dup, NC_000016.10:g.71950750_71950751dup, NC_000016.10:g.71950749_71950751dup, NC_000016.10:g.71950748_71950751dup, NC_000016.10:g.71950747_71950751dup, NC_000016.10:g.71950741_71950751dup, NC_000016.9:g.71984646_71984650del, NC_000016.9:g.71984647_71984650del, NC_000016.9:g.71984648_71984650del, NC_000016.9:g.71984649_71984650del, NC_000016.9:g.71984650del, NC_000016.9:g.71984650dup, NC_000016.9:g.71984649_71984650dup, NC_000016.9:g.71984648_71984650dup, NC_000016.9:g.71984647_71984650dup, NC_000016.9:g.71984646_71984650dup, NC_000016.9:g.71984640_71984650dup, NG_032958.1:g.54237_54241del, NG_032958.1:g.54238_54241del, NG_032958.1:g.54239_54241del, NG_032958.1:g.54240_54241del, NG_032958.1:g.54241del, NG_032958.1:g.54241dup, NG_032958.1:g.54240_54241dup, NG_032958.1:g.54239_54241dup, NG_032958.1:g.54238_54241dup, NG_032958.1:g.54237_54241dup, NG_032958.1:g.54231_54241dup

Select item 149139001620.

rs1491390016 [Homo sapiens]

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

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