SNP Links for Nucleotide (Select 387157916) - SNP

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Links from Nucleotide

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Select item 14901579441.

rs1490157944 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:22171170 (GRCh38)
X:22189287 (GRCh37)
Canonical SPDI:: NC_000023.11:22171169:G:A
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.22171170G>A, NC_000023.10:g.22189287G>A, NG_007563.3:g.143847G>A, NG_007563.2:g.143367G>A, NR_046639.1:n.1194C>T

Select item 14901073782.

rs1490107378 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:22172500 (GRCh38)
X:22190617 (GRCh37)
Canonical SPDI:: NC_000023.11:22172499:A:C
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.22172500A>C, NC_000023.10:g.22190617A>C, NG_007563.3:g.145177A>C, NG_007563.2:g.144697A>C, NR_046639.1:n.484T>G

Select item 14842374213.

rs1484237421 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAGAA>- [Show Flanks]
Chromosome:: X:22172266 (GRCh38)
X:22190383 (GRCh37)
Canonical SPDI:: NC_000023.11:22172263:AATAGAA:AA
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22172266_22172270del, NC_000023.10:g.22190383_22190387del, NG_007563.3:g.144943_144947del, NG_007563.2:g.144463_144467del, NR_046639.1:n.716_720del

Select item 14837666744.

rs1483766674 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:22163364 (GRCh38)
X:22181481 (GRCh37)
Canonical SPDI:: NC_000023.11:22163363:T:C,NC_000023.11:22163363:T:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22163364T>C, NC_000023.11:g.22163364T>G, NC_000023.10:g.22181481T>C, NC_000023.10:g.22181481T>G, NG_007563.3:g.136041T>C, NG_007563.3:g.136041T>G, NG_007563.2:g.135561T>C, NG_007563.2:g.135561T>G, NR_046639.1:n.1275A>G, NR_046639.1:n.1275A>C

Select item 14789985295.

rs1478998529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:22162863 (GRCh38)
X:22180980 (GRCh37)
Canonical SPDI:: NC_000023.11:22162862:C:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.22162863C>T, NC_000023.10:g.22180980C>T, NG_007563.3:g.135540C>T, NG_007563.2:g.135060C>T, NR_046639.1:n.1776G>A

Select item 14773543486.

rs1477354348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:22171960 (GRCh38)
X:22190077 (GRCh37)
Canonical SPDI:: NC_000023.11:22171959:G:A,NC_000023.11:22171959:G:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000048/5 (GnomAD)
HGVS:: NC_000023.11:g.22171960G>A, NC_000023.11:g.22171960G>T, NC_000023.10:g.22190077G>A, NC_000023.10:g.22190077G>T, NG_007563.3:g.144637G>A, NG_007563.3:g.144637G>T, NG_007563.2:g.144157G>A, NG_007563.2:g.144157G>T, NR_046639.1:n.1024C>T, NR_046639.1:n.1024C>A

Select item 14753621347.

rs1475362134 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:22163339 (GRCh38)
X:22181456 (GRCh37)
Canonical SPDI:: NC_000023.11:22163338:G:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22163339G>T, NC_000023.10:g.22181456G>T, NG_007563.3:g.136016G>T, NG_007563.2:g.135536G>T, NR_046639.1:n.1300C>A

Select item 14752593088.

rs1475259308 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:22172025 (GRCh38)
X:22190142 (GRCh37)
Canonical SPDI:: NC_000023.11:22172024:G:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22172025G>T, NC_000023.10:g.22190142G>T, NG_007563.3:g.144702G>T, NG_007563.2:g.144222G>T, NR_046639.1:n.959C>A

Select item 14686713489.

rs1468671348 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:22171981 (GRCh38)
X:22190098 (GRCh37)
Canonical SPDI:: NC_000023.11:22171980:A:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.22171981A>G, NC_000023.10:g.22190098A>G, NG_007563.3:g.144658A>G, NG_007563.2:g.144178A>G, NR_046639.1:n.1003T>C

Select item 146602347710.

rs1466023477 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:22172040 (GRCh38)
X:22190157 (GRCh37)
Canonical SPDI:: NC_000023.11:22172039:T:A
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22172040T>A, NC_000023.10:g.22190157T>A, NG_007563.3:g.144717T>A, NG_007563.2:g.144237T>A, NR_046639.1:n.944A>T

Select item 146508953411.

rs1465089534 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: X:22171599 (GRCh38)
X:22189717 (GRCh37)
Canonical SPDI:: NC_000023.11:22171599::A
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0.000059/6 (GnomAD)
HGVS:: NC_000023.11:g.22171599_22171600insA, NC_000023.10:g.22189716_22189717insA, NG_007563.3:g.144276_144277insA, NG_007563.2:g.143796_143797insA, NR_046639.1:n.1083_1084insT

Select item 146173102912.

rs1461731029 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:22162819 (GRCh38)
X:22180936 (GRCh37)
Canonical SPDI:: NC_000023.11:22162818:A:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.22162819A>G, NC_000023.10:g.22180936A>G, NG_007563.3:g.135496A>G, NG_007563.2:g.135016A>G, NR_046639.1:n.1820T>C

Select item 145703528413.

rs1457035284 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:22163257 (GRCh38)
X:22181374 (GRCh37)
Canonical SPDI:: NC_000023.11:22163256:G:A
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.22163257G>A, NC_000023.10:g.22181374G>A, NG_007563.3:g.135934G>A, NG_007563.2:g.135454G>A, NR_046639.1:n.1382C>T

Select item 145701719614.

rs1457017196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:22162774 (GRCh38)
X:22180891 (GRCh37)
Canonical SPDI:: NC_000023.11:22162773:A:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22162774A>G, NC_000023.10:g.22180891A>G, NG_007563.3:g.135451A>G, NG_007563.2:g.134971A>G, NR_046639.1:n.1865T>C

Select item 145456005015.

rs1454560050 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:22162968 (GRCh38)
X:22181085 (GRCh37)
Canonical SPDI:: NC_000023.11:22162967:G:A
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000023.11:g.22162968G>A, NC_000023.10:g.22181085G>A, NG_007563.3:g.135645G>A, NG_007563.2:g.135165G>A, NR_046639.1:n.1671C>T

Select item 145040089316.

rs1450400893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:22163158 (GRCh38)
X:22181275 (GRCh37)
Canonical SPDI:: NC_000023.11:22163157:C:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.22163158C>T, NC_000023.10:g.22181275C>T, NG_007563.3:g.135835C>T, NG_007563.2:g.135355C>T, NR_046639.1:n.1481G>A

Select item 145035561117.

rs1450355611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:22172205 (GRCh38)
X:22190322 (GRCh37)
Canonical SPDI:: NC_000023.11:22172204:G:T
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.22172205G>T, NC_000023.10:g.22190322G>T, NG_007563.3:g.144882G>T, NG_007563.2:g.144402G>T, NR_046639.1:n.779C>A

Select item 144236473518.

rs1442364735 [Homo sapiens]

Variant type:: DEL
Alleles:: GTACCATC>- [Show Flanks]
Chromosome:: X:22171558 (GRCh38)
X:22189675 (GRCh37)
Canonical SPDI:: NC_000023.11:22171557:GTACCATC:
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.22171558_22171565del, NC_000023.10:g.22189675_22189682del, NG_007563.3:g.144235_144242del, NG_007563.2:g.143755_143762del, NR_046639.1:n.1118_1125del

Select item 144206840219.

rs1442068402 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:22172404 (GRCh38)
X:22190521 (GRCh37)
Canonical SPDI:: NC_000023.11:22172403:T:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
G=0.000405/5 (TOMMO)
HGVS:: NC_000023.11:g.22172404T>G, NC_000023.10:g.22190521T>G, NG_007563.3:g.145081T>G, NG_007563.2:g.144601T>G, NR_046639.1:n.580A>C

Select item 143665167820.

rs1436651678 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:22171584 (GRCh38)
X:22189701 (GRCh37)
Canonical SPDI:: NC_000023.11:22171583:C:G
Gene:: PHEX (Varview), PHEX-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000042/11 (TOPMED)
HGVS:: NC_000023.11:g.22171584C>G, NC_000023.10:g.22189701C>G, NG_007563.3:g.144261C>G, NG_007563.2:g.143781C>G, NR_046639.1:n.1099G>C