SNP Links for Gene (Select 5053) - SNP

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Select item 14915777731.

rs1491577773 has merged into rs5800546 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 12:102951065 (GRCh38)
12:103344843 (GRCh37)
Canonical SPDI:: NC_000012.12:102951058:GGGGGGGG:GGGGGG,NC_000012.12:102951058:GGGGGGGG:GGGGGGG,NC_000012.12:102951058:GGGGGGGG:GGGGGGGGG,NC_000012.12:102951058:GGGGGGGG:GGGGGGGGGG
Gene:: PAH (Varview), LOC112267865 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0.00034/3 (ALFA)
-=0.002675/9 (1000Genomes)
-=0.008188/15 (Korea1K)
-=0.013663/229 (TOMMO)
-=0.374918/99237 (TOPMED)
HGVS:: NC_000012.12:g.102951065_102951066del, NC_000012.12:g.102951066del, NC_000012.12:g.102951066dup, NC_000012.12:g.102951065_102951066dup, NC_000012.11:g.103344843_103344844del, NC_000012.11:g.103344844del, NC_000012.11:g.103344844dup, NC_000012.11:g.103344843_103344844dup, NG_008690.2:g.12351_12352del, NG_008690.2:g.12352del, NG_008690.2:g.12352dup, NG_008690.2:g.12351_12352dup

Select item 14915702122.

rs1491570212 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:102918570 (GRCh38)
12:103312348 (GRCh37)
Canonical SPDI:: NC_000012.12:102918568:TGT:T
Gene:: PAH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000106/2 (TOMMO)
-=0.000199/22 (GnomAD)
HGVS:: NC_000012.12:g.102918570_102918571del, NC_000012.11:g.103312348_103312349del, NG_008690.2:g.44841_44842del

Select item 14915638463.

rs1491563846 has merged into rs758762716 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 12:102868080 (GRCh38)
12:103261858 (GRCh37)
Canonical SPDI:: NC_000012.12:102868078:TGTGTGTGTGT:T,NC_000012.12:102868078:TGTGTGTGTGT:TGTGT,NC_000012.12:102868078:TGTGTGTGTGT:TGTGTGT,NC_000012.12:102868078:TGTGTGTGTGT:TGTGTGTGT,NC_000012.12:102868078:TGTGTGTGTGT:TGTGTGTGTGTGT,NC_000012.12:102868078:TGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGT=0./0 (ALFA)
-=0.00404/7 (Korea1K)
HGVS:: NC_000012.12:g.102868080_102868089del, NC_000012.12:g.102868080GT[2], NC_000012.12:g.102868080GT[3], NC_000012.12:g.102868080GT[4], NC_000012.12:g.102868080GT[6], NC_000012.12:g.102868080GT[7], NC_000012.11:g.103261858_103261867del, NC_000012.11:g.103261858GT[2], NC_000012.11:g.103261858GT[3], NC_000012.11:g.103261858GT[4], NC_000012.11:g.103261858GT[6], NC_000012.11:g.103261858GT[7], NG_008690.2:g.95323_95332del, NG_008690.2:g.95323CA[2], NG_008690.2:g.95323CA[3], NG_008690.2:g.95323CA[4], NG_008690.2:g.95323CA[6], NG_008690.2:g.95323CA[7]

Select item 14915540724.

rs1491554072 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A [Show Flanks]
Chromosome:: 12:102882677 (GRCh38)
12:103276455 (GRCh37)
Canonical SPDI:: NC_000012.12:102882675:AAAA:A,NC_000012.12:102882675:AAAA:AA
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.01253/210 (TOMMO)
-=0.1/60 (NorthernSweden)
-=0.26646/8821 (GnomAD)
HGVS:: NC_000012.12:g.102882677_102882679del, NC_000012.12:g.102882678_102882679del, NC_000012.11:g.103276455_103276457del, NC_000012.11:g.103276456_103276457del, NG_008690.2:g.80733_80735del, NG_008690.2:g.80734_80735del

Select item 14914577735.

rs1491457773 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:102895854 (GRCh38)
12:103289632 (GRCh37)
Canonical SPDI:: NC_000012.12:102895853:CA:
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00135/16 (ALFA)
HGVS:: NC_000012.12:g.102895854_102895855del, NC_000012.11:g.103289632_103289633del, NG_008690.2:g.67556_67557del

Select item 14914434366.

rs1491443436 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:102875926 (GRCh38)
12:103269704 (GRCh37)
Canonical SPDI:: NC_000012.12:102875925:CA:
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
-=0.00007/6 (GnomAD)
HGVS:: NC_000012.12:g.102875926_102875927del, NC_000012.11:g.103269704_103269705del, NG_008690.2:g.87484_87485del

Select item 14914119327.

rs1491411932 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAT,TATATAT,TATATATAT [Show Flanks]
Chromosome:: 12:102882676 (GRCh38)
12:103276455 (GRCh37)
Canonical SPDI:: NC_000012.12:102882676::T,NC_000012.12:102882676::TAT,NC_000012.12:102882676::TATAT,NC_000012.12:102882676::TATATAT,NC_000012.12:102882676::TATATATAT
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.0931/1559 (TOMMO)
T=0.09811/52 (NorthernSweden)
HGVS:: NC_000012.12:g.102882676_102882677insT, NC_000012.12:g.102882676_102882677insTAT, NC_000012.12:g.102882676_102882677insTATAT, NC_000012.12:g.102882676_102882677insTATATAT, NC_000012.12:g.102882676_102882677insTATATATAT, NC_000012.11:g.103276454_103276455insT, NC_000012.11:g.103276454_103276455insTAT, NC_000012.11:g.103276454_103276455insTATAT, NC_000012.11:g.103276454_103276455insTATATAT, NC_000012.11:g.103276454_103276455insTATATATAT, NG_008690.2:g.80734_80735insA, NG_008690.2:g.80734_80735insATA, NG_008690.2:g.80734_80735insATATA, NG_008690.2:g.80734_80735insATATATA, NG_008690.2:g.80734_80735insATATATATA

Select item 14913722178.

rs1491372217 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 12:102894430 (GRCh38)
12:103288209 (GRCh37)
Canonical SPDI:: NC_000012.12:102894430::G
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.102894430_102894431insG, NC_000012.11:g.103288208_103288209insG, NG_008690.2:g.68980_68981insC

Select item 14913326009.

rs1491332600 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:102916144 (GRCh38)
12:103309922 (GRCh37)
Canonical SPDI:: NC_000012.12:102916143:AT:
Gene:: PAH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.102916144_102916145del, NC_000012.11:g.103309922_103309923del, NG_008690.2:g.47266_47267del

Select item 149127905610.

rs1491279056 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAC [Show Flanks]
Chromosome:: 12:102868079 (GRCh38)
12:103261858 (GRCh37)
Canonical SPDI:: NC_000012.12:102868079::ATAC
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAC=0./0 (ALFA)
ATAC=0.00104/50 (GnomAD)
HGVS:: NC_000012.12:g.102868079_102868080insATAC, NC_000012.11:g.103261857_103261858insATAC, NG_008690.2:g.95331_95332insGTAT

Select item 149125593611.

rs1491255936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CATATATAGATGTATATATACGTGTATATA,CATATATAGATGTATATTTACGTGTATATA [Show Flanks]
Chromosome:: 12:102867971 (GRCh38)
12:103261750 (GRCh37)
Canonical SPDI:: NC_000012.12:102867971:TGTATATA:TGTATATACATATATAGATGTATATATACGTGTATATA,NC_000012.12:102867971:TGTATATA:TGTATATACATATATAGATGTATATTTACGTGTATATA
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.102867979_102867980insCATATATAGATGTATATATACGTGTATATA, NC_000012.12:g.102867979_102867980insCATATATAGATGTATATTTACGTGTATATA, NC_000012.11:g.103261757_103261758insCATATATAGATGTATATATACGTGTATATA, NC_000012.11:g.103261757_103261758insCATATATAGATGTATATTTACGTGTATATA, NG_008690.2:g.95432_95439TA[3]CACGTATATATACATCTATATATGTATATACA[1], NG_008690.2:g.95432_95439TA[3]CACGTAAATATACATCTATATATGTATATACA[1]

Select item 149125319012.

rs1491253190 has merged into rs377282976 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG,GGG,GGGG [Show Flanks]
Chromosome:: 12:102910388 (GRCh38)
12:103304166 (GRCh37)
Canonical SPDI:: NC_000012.12:102910387:GGGG:GGG,NC_000012.12:102910387:GGGG:GGGGG,NC_000012.12:102910387:GGGG:GGGGGG,NC_000012.12:102910387:GGGG:GGGGGGG
Gene:: PAH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.00764/14 (Korea1K)
HGVS:: NC_000012.12:g.102910391del, NC_000012.12:g.102910391dup, NC_000012.12:g.102910390_102910391dup, NC_000012.12:g.102910389_102910391dup, NC_000012.11:g.103304169del, NC_000012.11:g.103304169dup, NC_000012.11:g.103304168_103304169dup, NC_000012.11:g.103304167_103304169dup, NG_008690.2:g.53023del, NG_008690.2:g.53023dup, NG_008690.2:g.53022_53023dup, NG_008690.2:g.53021_53023dup

Select item 149124500313.

rs1491245003 has merged into rs3062683 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 12:102879614 (GRCh38)
12:103273392 (GRCh37)
Canonical SPDI:: NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGG,NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGGG,NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGGGGG,NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGGGGGG,NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000012.12:102879605:GGGGGGGGGG:GGGGGGGGGGGGGG
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGG=0.0006/5 (ALFA)
G=0.1164/583 (1000Genomes)
HGVS:: NC_000012.12:g.102879614_102879615del, NC_000012.12:g.102879615del, NC_000012.12:g.102879615dup, NC_000012.12:g.102879614_102879615dup, NC_000012.12:g.102879613_102879615dup, NC_000012.12:g.102879612_102879615dup, NC_000012.11:g.103273392_103273393del, NC_000012.11:g.103273393del, NC_000012.11:g.103273393dup, NC_000012.11:g.103273392_103273393dup, NC_000012.11:g.103273391_103273393dup, NC_000012.11:g.103273390_103273393dup, NG_008690.2:g.83804_83805del, NG_008690.2:g.83805del, NG_008690.2:g.83805dup, NG_008690.2:g.83804_83805dup, NG_008690.2:g.83803_83805dup, NG_008690.2:g.83802_83805dup

Select item 149122867714.

rs1491228677 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT,GTATAT,GTATATAT,GTATATATAT,GTATATATATAT,GTATATATATATAT,GTATATATATATATAT,GTATATATATATATATAT,GTATATATATATATATATAT,GTATATATATATATATATATAT,GTATATATATATATATATATATAT,GTGTAT,GTGTATAT,GTGTATATAT,GTGTATATATAT,GTGTATATATATAT,GTGTATATATATATAT,GTGTATATATATATATAT,GTGTATATATATATATATAT,GTGTGTAT,GTGTGTATAT,GTGTGTATATAT,GTGTGTATATATAT,GTGTGTATATATATAT [Show Flanks]
Chromosome:: 12:102897465 (GRCh38)
12:103291244 (GRCh37)
Canonical SPDI:: NC_000012.12:102897465:T:TGTAT,NC_000012.12:102897465:T:TGTATAT,NC_000012.12:102897465:T:TGTATATAT,NC_000012.12:102897465:T:TGTATATATAT,NC_000012.12:102897465:T:TGTATATATATAT,NC_000012.12:102897465:T:TGTATATATATATAT,NC_000012.12:102897465:T:TGTATATATATATATAT,NC_000012.12:102897465:T:TGTATATATATATATATAT,NC_000012.12:102897465:T:TGTATATATATATATATATAT,NC_000012.12:102897465:T:TGTATATATATATATATATATAT,NC_000012.12:102897465:T:TGTATATATATATATATATATATAT,NC_000012.12:102897465:T:TGTGTAT,NC_000012.12:102897465:T:TGTGTATAT,NC_000012.12:102897465:T:TGTGTATATAT,NC_000012.12:102897465:T:TGTGTATATATAT,NC_000012.12:102897465:T:TGTGTATATATATAT,NC_000012.12:102897465:T:TGTGTATATATATATAT,NC_000012.12:102897465:T:TGTGTATATATATATATAT,NC_000012.12:102897465:T:TGTGTATATATATATATATAT,NC_000012.12:102897465:T:TGTGTGTAT,NC_000012.12:102897465:T:TGTGTGTATAT,NC_000012.12:102897465:T:TGTGTGTATATAT,NC_000012.12:102897465:T:TGTGTGTATATATAT,NC_000012.12:102897465:T:TGTGTGTATATATATAT
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTATAT=0./0 (ALFA)
TGTGTGTATATATA=0.000004/1 (TOPMED)
TGTA=0.032097/538 (TOMMO)
HGVS:: NC_000012.12:g.102897466_102897467insGTAT, NC_000012.12:g.102897466_102897467insGTATAT, NC_000012.12:g.102897466_102897467insGTATATAT, NC_000012.12:g.102897466_102897467insGTATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATATATATATAT, NC_000012.12:g.102897466_102897467insGTATATATATATATATATATATAT, NC_000012.12:g.102897466TG[2]TAT[1], NC_000012.12:g.102897466TG[2]TA[2]T[1], NC_000012.12:g.102897466TG[2]TA[3]T[1], NC_000012.12:g.102897466TG[2]TA[4]T[1], NC_000012.12:g.102897466TG[2]TA[5]T[1], NC_000012.12:g.102897466TG[2]TA[6]T[1], NC_000012.12:g.102897466TG[2]TA[7]T[1], NC_000012.12:g.102897466TG[2]TA[8]T[1], NC_000012.12:g.102897466TG[3]TAT[1], NC_000012.12:g.102897466TG[3]TA[2]T[1], NC_000012.12:g.102897466TG[3]TA[3]T[1], NC_000012.12:g.102897466TG[3]TA[4]T[1], NC_000012.12:g.102897466TG[3]TA[5]T[1], NC_000012.11:g.103291244_103291245insGTAT, NC_000012.11:g.103291244_103291245insGTATAT, NC_000012.11:g.103291244_103291245insGTATATAT, NC_000012.11:g.103291244_103291245insGTATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATATATATATAT, NC_000012.11:g.103291244_103291245insGTATATATATATATATATATATAT, NC_000012.11:g.103291244TG[2]TAT[1], NC_000012.11:g.103291244TG[2]TA[2]T[1], NC_000012.11:g.103291244TG[2]TA[3]T[1], NC_000012.11:g.103291244TG[2]TA[4]T[1], NC_000012.11:g.103291244TG[2]TA[5]T[1], NC_000012.11:g.103291244TG[2]TA[6]T[1], NC_000012.11:g.103291244TG[2]TA[7]T[1], NC_000012.11:g.103291244TG[2]TA[8]T[1], NC_000012.11:g.103291244TG[3]TAT[1], NC_000012.11:g.103291244TG[3]TA[2]T[1], NC_000012.11:g.103291244TG[3]TA[3]T[1], NC_000012.11:g.103291244TG[3]TA[4]T[1], NC_000012.11:g.103291244TG[3]TA[5]T[1], NG_008690.2:g.65945_65946insTACA, NG_008690.2:g.65945AT[2]ACA[1], NG_008690.2:g.65945AT[3]ACA[1], NG_008690.2:g.65945AT[4]ACA[1], NG_008690.2:g.65945AT[5]ACA[1], NG_008690.2:g.65945AT[6]ACA[1], NG_008690.2:g.65945AT[7]ACA[1], NG_008690.2:g.65945AT[8]ACA[1], NG_008690.2:g.65945AT[9]ACA[1], NG_008690.2:g.65945AT[10]ACA[1], NG_008690.2:g.65945AT[11]ACA[1], NG_008690.2:g.65945_65946insTACACA, NG_008690.2:g.65945AT[2]AC[2]A[1], NG_008690.2:g.65945AT[3]AC[2]A[1], NG_008690.2:g.65945AT[4]AC[2]A[1], NG_008690.2:g.65945AT[5]AC[2]A[1], NG_008690.2:g.65945AT[6]AC[2]A[1], NG_008690.2:g.65945AT[7]AC[2]A[1], NG_008690.2:g.65945AT[8]AC[2]A[1], NG_008690.2:g.65945_65946insTACACACA, NG_008690.2:g.65945AT[2]AC[3]A[1], NG_008690.2:g.65945AT[3]AC[3]A[1], NG_008690.2:g.65945AT[4]AC[3]A[1], NG_008690.2:g.65945AT[5]AC[3]A[1]

Select item 149121974915.

rs1491219749 has merged into rs1358776168 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 12:102868069 (GRCh38)
12:103261847 (GRCh37)
Canonical SPDI:: NC_000012.12:102868063:ATATATATA:ATATA,NC_000012.12:102868063:ATATATATA:ATATATA,NC_000012.12:102868063:ATATATATA:ATATATATATA
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000012.12:g.102868065TA[2], NC_000012.12:g.102868065TA[3], NC_000012.12:g.102868065TA[5], NC_000012.11:g.103261843TA[2], NC_000012.11:g.103261843TA[3], NC_000012.11:g.103261843TA[5], NG_008690.2:g.95340AT[2], NG_008690.2:g.95340AT[3], NG_008690.2:g.95340AT[5]

Select item 149121206916.

rs1491212069 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:102867971 (GRCh38)
12:103261749 (GRCh37)
Canonical SPDI:: NC_000012.12:102867970:AT:
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.102867971_102867972del, NC_000012.11:g.103261749_103261750del, NG_008690.2:g.95439_95440del

Select item 149118615817.

rs1491186158 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:102942536 (GRCh38)
12:103336314 (GRCh37)
Canonical SPDI:: NC_000012.12:102942535:AT:
Gene:: PAH (Varview), LOC112267865 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.102942536_102942537del, NC_000012.11:g.103336314_103336315del, NG_008690.2:g.20874_20875del

Select item 149117811518.

rs1491178115 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 12:102851104 (GRCh38)
12:103244882 (GRCh37)
Canonical SPDI:: NC_000012.12:102851102:AGA:A
Gene:: PAH (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.002/9 (ALFA)
HGVS:: NC_000012.12:g.102851104_102851105del, NC_000012.11:g.103244882_103244883del, NG_008690.2:g.112307_112308del

Select item 149117397119.

rs1491173971 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACCTATATA [Show Flanks]
Chromosome:: 12:102868064 (GRCh38)
12:103261843 (GRCh37)
Canonical SPDI:: NC_000012.12:102868064:TATATA:TATATACACCTATATA
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATATACACCTATATA=0./0 (ALFA)
TATATACACC=0.000045/5 (GnomAD)
HGVS:: NC_000012.12:g.102868065_102868070TA[3]CACCTATATA[1], NC_000012.11:g.103261843_103261848TA[3]CACCTATATA[1], NG_008690.2:g.95341_95346TA[3]GGTGTATATA[1]

Select item 149112558420.

rs1491125584 has merged into rs780516168 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:102895865 (GRCh38)
12:103289643 (GRCh37)
Canonical SPDI:: NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:102895854:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PAH (Varview), LOC124902999 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAA=0.5/20 (GENOME_DK)
HGVS:: NC_000012.12:g.102895865_102895870del, NC_000012.12:g.102895866_102895870del, NC_000012.12:g.102895867_102895870del, NC_000012.12:g.102895868_102895870del, NC_000012.12:g.102895869_102895870del, NC_000012.12:g.102895870del, NC_000012.12:g.102895870dup, NC_000012.12:g.102895869_102895870dup, NC_000012.12:g.102895868_102895870dup, NC_000012.12:g.102895867_102895870dup, NC_000012.12:g.102895866_102895870dup, NC_000012.12:g.102895865_102895870dup, NC_000012.12:g.102895864_102895870dup, NC_000012.12:g.102895863_102895870dup, NC_000012.12:g.102895862_102895870dup, NC_000012.11:g.103289643_103289648del, NC_000012.11:g.103289644_103289648del, NC_000012.11:g.103289645_103289648del, NC_000012.11:g.103289646_103289648del, NC_000012.11:g.103289647_103289648del, NC_000012.11:g.103289648del, NC_000012.11:g.103289648dup, NC_000012.11:g.103289647_103289648dup, NC_000012.11:g.103289646_103289648dup, NC_000012.11:g.103289645_103289648dup, NC_000012.11:g.103289644_103289648dup, NC_000012.11:g.103289643_103289648dup, NC_000012.11:g.103289642_103289648dup, NC_000012.11:g.103289641_103289648dup, NC_000012.11:g.103289640_103289648dup, NG_008690.2:g.67551_67556del, NG_008690.2:g.67552_67556del, NG_008690.2:g.67553_67556del, NG_008690.2:g.67554_67556del, NG_008690.2:g.67555_67556del, NG_008690.2:g.67556del, NG_008690.2:g.67556dup, NG_008690.2:g.67555_67556dup, NG_008690.2:g.67554_67556dup, NG_008690.2:g.67553_67556dup, NG_008690.2:g.67552_67556dup, NG_008690.2:g.67551_67556dup, NG_008690.2:g.67550_67556dup, NG_008690.2:g.67549_67556dup, NG_008690.2:g.67548_67556dup

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