SNP Links for Gene (Select 101059953) - SNP

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Select item 14914926911.

rs1491492691 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:18335199 (GRCh38)
16:18429056 (GRCh37)
Canonical SPDI:: NC_000016.10:18335198:AT:
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.18335199_18335200del, NC_000016.9:g.18429056_18429057del, NG_002800.3:g.17184_17185del, NM_001349949.1:c.-419_-418del, NM_001349948.1:c.-419_-418del

Select item 14914469812.

rs1491446981 has merged into rs1187630024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 16:18335211 (GRCh38)
16:18429068 (GRCh37)
Canonical SPDI:: NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.18335211_18335215del, NC_000016.10:g.18335214_18335215del, NC_000016.10:g.18335215del, NC_000016.10:g.18335215dup, NC_000016.10:g.18335214_18335215dup, NC_000016.9:g.18429068_18429072del, NC_000016.9:g.18429071_18429072del, NC_000016.9:g.18429072del, NC_000016.9:g.18429072dup, NC_000016.9:g.18429071_18429072dup, NG_002800.3:g.17180_17184del, NG_002800.3:g.17183_17184del, NG_002800.3:g.17184del, NG_002800.3:g.17184dup, NG_002800.3:g.17183_17184dup, NM_001349949.1:c.-423_-419del, NM_001349949.1:c.-420_-419del, NM_001349949.1:c.-419del, NM_001349949.1:c.-419dup, NM_001349949.1:c.-420_-419dup, NM_001349948.1:c.-423_-419del, NM_001349948.1:c.-420_-419del, NM_001349948.1:c.-419del, NM_001349948.1:c.-419dup, NM_001349948.1:c.-420_-419dup

Select item 14914177693.

rs1491417769 has merged into rs1211082418 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:18325444 (GRCh38)
16:18419301 (GRCh37)
Canonical SPDI:: NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18325433:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.069/4 (GnomAD)
HGVS:: NC_000016.10:g.18325444_18325454del, NC_000016.10:g.18325450_18325454del, NC_000016.10:g.18325451_18325454del, NC_000016.10:g.18325452_18325454del, NC_000016.10:g.18325453_18325454del, NC_000016.10:g.18325454del, NC_000016.10:g.18325454dup, NC_000016.10:g.18325453_18325454dup, NC_000016.9:g.18419301_18419311del, NC_000016.9:g.18419307_18419311del, NC_000016.9:g.18419308_18419311del, NC_000016.9:g.18419309_18419311del, NC_000016.9:g.18419310_18419311del, NC_000016.9:g.18419311del, NC_000016.9:g.18419311dup, NC_000016.9:g.18419310_18419311dup

Select item 14913451774.

rs1491345177 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:18325433 (GRCh38)
16:18419290 (GRCh37)
Canonical SPDI:: NC_000016.10:18325432:CA:
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0317/376 (ALFA)
-=0.06452/4 (GnomAD)
HGVS:: NC_000016.10:g.18325433_18325434del, NC_000016.9:g.18419290_18419291del

Select item 14909655295.

rs1490965529 [Homo sapiens]

Variant type:: DEL
Alleles:: TTA>- [Show Flanks]
Chromosome:: 16:18335214 (GRCh38)
16:18429071 (GRCh37)
Canonical SPDI:: NC_000016.10:18335213:TTA:
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00014/3 (GnomAD)
HGVS:: NC_000016.10:g.18335214_18335216del, NC_000016.9:g.18429071_18429073del, NG_002800.3:g.17168_17170del, NM_001349949.1:c.-435_-433del, NM_001349948.1:c.-435_-433del

Select item 14909588626.

rs1490958862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:18324588 (GRCh38)
16:18418445 (GRCh37)
Canonical SPDI:: NC_000016.10:18324587:C:A,NC_000016.10:18324587:C:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
HGVS:: NC_000016.10:g.18324588C>A, NC_000016.10:g.18324588C>T, NC_000016.9:g.18418445C>A, NC_000016.9:g.18418445C>T

Select item 14908400027.

rs1490840002 has merged into rs1187630024 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 16:18335211 (GRCh38)
16:18429068 (GRCh37)
Canonical SPDI:: NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:18335199:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.18335211_18335215del, NC_000016.10:g.18335214_18335215del, NC_000016.10:g.18335215del, NC_000016.10:g.18335215dup, NC_000016.10:g.18335214_18335215dup, NC_000016.9:g.18429068_18429072del, NC_000016.9:g.18429071_18429072del, NC_000016.9:g.18429072del, NC_000016.9:g.18429072dup, NC_000016.9:g.18429071_18429072dup, NG_002800.3:g.17180_17184del, NG_002800.3:g.17183_17184del, NG_002800.3:g.17184del, NG_002800.3:g.17184dup, NG_002800.3:g.17183_17184dup, NM_001349949.1:c.-423_-419del, NM_001349949.1:c.-420_-419del, NM_001349949.1:c.-419del, NM_001349949.1:c.-419dup, NM_001349949.1:c.-420_-419dup, NM_001349948.1:c.-423_-419del, NM_001349948.1:c.-420_-419del, NM_001349948.1:c.-419del, NM_001349948.1:c.-419dup, NM_001349948.1:c.-420_-419dup

Select item 14908204308.

rs1490820430 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:18336438 (GRCh38)
16:18430295 (GRCh37)
Canonical SPDI:: NC_000016.10:18336437:G:A,NC_000016.10:18336437:G:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.18336438G>A, NC_000016.10:g.18336438G>T, NC_000016.9:g.18430295G>A, NC_000016.9:g.18430295G>T, NG_002800.3:g.15946C>T, NG_002800.3:g.15946C>A

Select item 14904748759.

rs1490474875 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:18325189 (GRCh38)
16:18419046 (GRCh37)
Canonical SPDI:: NC_000016.10:18325188:C:A
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
A=0.00011/7 (GnomAD)
HGVS:: NC_000016.10:g.18325189C>A, NC_000016.9:g.18419046C>A

Select item 149047004310.

rs1490470043 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:18323825 (GRCh38)
16:18417682 (GRCh37)
Canonical SPDI:: NC_000016.10:18323824:A:G,NC_000016.10:18323824:A:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00005/3 (GnomAD)
T=0.00048/8 (TOMMO)
HGVS:: NC_000016.10:g.18323825A>G, NC_000016.10:g.18323825A>T, NC_000016.9:g.18417682A>G, NC_000016.9:g.18417682A>T

Select item 149044434311.

rs1490444343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:18323893 (GRCh38)
16:18417751 (GRCh37)
Canonical SPDI:: NC_000016.10:18323893:AAAAAA:AAAAAAA
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
A=0.00014/2 (TOMMO)
HGVS:: NC_000016.10:g.18323899dup, NC_000016.9:g.18417756dup

Select item 149014914912.

rs1490149149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:18335802 (GRCh38)
16:18429659 (GRCh37)
Canonical SPDI:: NC_000016.10:18335801:A:G
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.01164/190 (ALFA)
G=0.00061/1 (Korea1K)
G=0.00249/42 (TOMMO)
G=0.01015/65 (1000Genomes)
G=0.01028/30 (KOREAN)
A=0.25/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.18335802A>G, NC_000016.9:g.18429659A>G, NG_002800.3:g.16582T>C, NM_001349949.1:c.-1021T>C, NM_001349948.1:c.-1021T>C

Select item 148991090513.

rs1489910905 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18335906 (GRCh38)
16:18429763 (GRCh37)
Canonical SPDI:: NC_000016.10:18335905:C:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
HGVS:: NC_000016.10:g.18335906C>T, NC_000016.9:g.18429763C>T, NG_002800.3:g.16478G>A

Select item 148976947814.

rs1489769478 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:18336342 (GRCh38)
16:18430199 (GRCh37)
Canonical SPDI:: NC_000016.10:18336341:G:A
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00034/4 (ALFA)
A=0.00024/16 (GnomAD)
A=0.00062/4 (1000Genomes)
HGVS:: NC_000016.10:g.18336342G>A, NC_000016.9:g.18430199G>A, NG_002800.3:g.16042C>T

Select item 148958942015.

rs1489589420 has merged into rs1162097124 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:18323831 (GRCh38)
16:18417688 (GRCh37)
Canonical SPDI:: NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:18323819:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.18323831_18323848del, NC_000016.10:g.18323832_18323848del, NC_000016.10:g.18323833_18323848del, NC_000016.10:g.18323834_18323848del, NC_000016.10:g.18323835_18323848del, NC_000016.10:g.18323836_18323848del, NC_000016.10:g.18323837_18323848del, NC_000016.10:g.18323838_18323848del, NC_000016.10:g.18323839_18323848del, NC_000016.10:g.18323840_18323848del, NC_000016.10:g.18323841_18323848del, NC_000016.10:g.18323842_18323848del, NC_000016.10:g.18323843_18323848del, NC_000016.10:g.18323844_18323848del, NC_000016.10:g.18323845_18323848del, NC_000016.10:g.18323846_18323848del, NC_000016.10:g.18323847_18323848del, NC_000016.10:g.18323848del, NC_000016.10:g.18323848dup, NC_000016.10:g.18323847_18323848dup, NC_000016.10:g.18323846_18323848dup, NC_000016.10:g.18323845_18323848dup, NC_000016.10:g.18323844_18323848dup, NC_000016.10:g.18323843_18323848dup, NC_000016.10:g.18323842_18323848dup, NC_000016.10:g.18323841_18323848dup, NC_000016.10:g.18323840_18323848dup, NC_000016.10:g.18323839_18323848dup, NC_000016.10:g.18323838_18323848dup, NC_000016.10:g.18323837_18323848dup, NC_000016.10:g.18323836_18323848dup, NC_000016.10:g.18323834_18323848dup, NC_000016.10:g.18323833_18323848dup, NC_000016.10:g.18323831_18323848dup, NC_000016.9:g.18417688_18417705del, NC_000016.9:g.18417689_18417705del, NC_000016.9:g.18417690_18417705del, NC_000016.9:g.18417691_18417705del, NC_000016.9:g.18417692_18417705del, NC_000016.9:g.18417693_18417705del, NC_000016.9:g.18417694_18417705del, NC_000016.9:g.18417695_18417705del, NC_000016.9:g.18417696_18417705del, NC_000016.9:g.18417697_18417705del, NC_000016.9:g.18417698_18417705del, NC_000016.9:g.18417699_18417705del, NC_000016.9:g.18417700_18417705del, NC_000016.9:g.18417701_18417705del, NC_000016.9:g.18417702_18417705del, NC_000016.9:g.18417703_18417705del, NC_000016.9:g.18417704_18417705del, NC_000016.9:g.18417705del, NC_000016.9:g.18417705dup, NC_000016.9:g.18417704_18417705dup, NC_000016.9:g.18417703_18417705dup, NC_000016.9:g.18417702_18417705dup, NC_000016.9:g.18417701_18417705dup, NC_000016.9:g.18417700_18417705dup, NC_000016.9:g.18417699_18417705dup, NC_000016.9:g.18417698_18417705dup, NC_000016.9:g.18417697_18417705dup, NC_000016.9:g.18417696_18417705dup, NC_000016.9:g.18417695_18417705dup, NC_000016.9:g.18417694_18417705dup, NC_000016.9:g.18417693_18417705dup, NC_000016.9:g.18417691_18417705dup, NC_000016.9:g.18417690_18417705dup, NC_000016.9:g.18417688_18417705dup

Select item 148937958616.

rs1489379586 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:18329774 (GRCh38)
16:18423631 (GRCh37)
Canonical SPDI:: NC_000016.10:18329773:C:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.18329774C>T, NC_000016.9:g.18423631C>T

Select item 148886922717.

rs1488869227 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:18336221 (GRCh38)
16:18430078 (GRCh37)
Canonical SPDI:: NC_000016.10:18336220:G:A,NC_000016.10:18336220:G:T
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.18336221G>A, NC_000016.10:g.18336221G>T, NC_000016.9:g.18430078G>A, NC_000016.9:g.18430078G>T, NG_002800.3:g.16163C>T, NG_002800.3:g.16163C>A

Select item 148861213018.

rs1488612130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:18335638 (GRCh38)
16:18429495 (GRCh37)
Canonical SPDI:: NC_000016.10:18335637:T:A
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.18335638T>A, NC_000016.9:g.18429495T>A, NG_002800.3:g.16746A>T, NM_001349949.1:c.-857A>T, NM_001349948.1:c.-857A>T

Select item 148848989219.

rs1488489892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:18337347 (GRCh38)
16:18431204 (GRCh37)
Canonical SPDI:: NC_000016.10:18337346:G:A
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.0001/2 (TOMMO)
A=0.00268/6 (KOREAN)
HGVS:: NC_000016.10:g.18337347G>A, NC_000016.9:g.18431204G>A, NG_002800.3:g.15037C>T

Select item 148841385320.

rs1488413853 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:18337514 (GRCh38)
16:18431371 (GRCh37)
Canonical SPDI:: NC_000016.10:18337513:C:G
Gene:: NPIPA8 (Varview), PKD1P4-NPIPA8 (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.18337514C>G, NC_000016.9:g.18431371C>G, NG_002800.3:g.14870G>C, NR_146336.1:n.5396G>C

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