SNP Links for Gene (Select 5256) - SNP

Links from Gene

Items: 1 to 20 of 16114

<< First< Prev

Page of 806

Next >Last >>

Select item 14915660711.

rs1491566071 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: X:18957737 (GRCh38)
X:18975856 (GRCh37)
Canonical SPDI:: NC_000023.11:18957737:TT:TTTT
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00017/2 (ALFA)
TT=0.00016/14 (GnomAD)
TT=0.00022/3 (TOMMO)
HGVS:: NC_000023.11:g.18957738_18957739dup, NC_000023.10:g.18975856_18975857dup, NG_016622.1:g.31624_31625dup

Select item 14914722162.

rs1491472216 has merged into rs895899155 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: X:18896313 (GRCh38)
X:18914431 (GRCh37)
Canonical SPDI:: NC_000023.11:18896312:GGGGGGG:GGGGGG,NC_000023.11:18896312:GGGGGGG:GGGGGGGG
Gene:: PHKA2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
HGVS:: NC_000023.11:g.18896319del, NC_000023.11:g.18896319dup, NC_000023.10:g.18914437del, NC_000023.10:g.18914437dup, NG_016622.1:g.93050del, NG_016622.1:g.93050dup

Select item 14914203223.

rs1491420322 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GC [Show Flanks]
Chromosome:: X:18915299 (GRCh38)
X:18933418 (GRCh37)
Canonical SPDI:: NC_000023.11:18915299:GC:GCGC
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.18915300_18915301dup, NC_000023.10:g.18933418_18933419dup, NG_016622.1:g.74062_74063dup, NG_045746.1:g.335_336dup

Select item 14913759114.

rs1491375911 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: X:18923047 (GRCh38)
X:18941165 (GRCh37)
Canonical SPDI:: NC_000023.11:18923046:CT:
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18923047_18923048del, NC_000023.10:g.18941165_18941166del, NG_016622.1:g.66315_66316del

Select item 14912615515.

rs1491261551 has merged into rs772084608 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTGTTTTTG>-,TTTTTG,TTTTTGTTTTTGTTTTTG [Show Flanks]
Chromosome:: X:18939501 (GRCh38)
X:18957619 (GRCh37)
Canonical SPDI:: NC_000023.11:18939488:TTTTTGTTTTTGTTTTTGTTTTTG:TTTTTGTTTTTG,NC_000023.11:18939488:TTTTTGTTTTTGTTTTTGTTTTTG:TTTTTGTTTTTGTTTTTG,NC_000023.11:18939488:TTTTTGTTTTTGTTTTTGTTTTTG:TTTTTGTTTTTGTTTTTGTTTTTGTTTTTG
Gene:: PHKA2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTGTTTTTGTTTTTG=0./0 (ALFA)
-=0.00054/2 (TWINSUK)
-=0.00173/5 (ALSPAC)
HGVS:: NC_000023.11:g.18939489TTTTTG[2], NC_000023.11:g.18939489TTTTTG[3], NC_000023.11:g.18939489TTTTTG[5], NC_000023.10:g.18957607TTTTTG[2], NC_000023.10:g.18957607TTTTTG[3], NC_000023.10:g.18957607TTTTTG[5], NG_016622.1:g.49851CAAAAA[2], NG_016622.1:g.49851CAAAAA[3], NG_016622.1:g.49851CAAAAA[5]

Select item 14911920496.

rs1491192049 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGA [Show Flanks]
Chromosome:: X:18893175 (GRCh38)
X:18911294 (GRCh37)
Canonical SPDI:: NC_000023.11:18893175:AAAGA:AAAGAAAGA
Gene:: PHKA2 (Varview), PHKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGA=0./0 (ALFA)
AAAG=0.000004/1 (TOPMED)
AAAG=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18893177_18893180dup, NC_000023.10:g.18911295_18911298dup, NG_016622.1:g.96184_96187dup, NM_000292.3:c.*306_*309dup, NM_000292.2:c.*306_*309dup, XM_005274548.6:c.*306_*309dup, XM_005274548.5:c.*306_*309dup, XM_005274548.4:c.*306_*309dup, XM_005274548.3:c.*306_*309dup, XM_005274548.2:c.*306_*309dup, XM_005274548.1:c.*306_*309dup, XM_005274550.6:c.*306_*309dup, XM_005274550.5:c.*306_*309dup, XM_005274550.4:c.*306_*309dup, XM_005274550.3:c.*306_*309dup, XM_005274550.2:c.*306_*309dup, XM_005274550.1:c.*306_*309dup, XM_006724496.5:c.*306_*309dup, XM_006724496.4:c.*306_*309dup, XM_006724496.3:c.*306_*309dup, XM_006724496.2:c.*306_*309dup, XM_006724496.1:c.*306_*309dup, XM_011545537.4:c.*306_*309dup, XM_011545537.3:c.*306_*309dup, XM_011545537.2:c.*306_*309dup, XM_011545537.1:c.*306_*309dup, XM_011545538.4:c.*306_*309dup, XM_011545538.3:c.*306_*309dup, XM_011545538.2:c.*306_*309dup, XM_011545538.1:c.*306_*309dup, XM_017029580.3:c.*306_*309dup, XM_017029580.2:c.*306_*309dup, XM_017029580.1:c.*306_*309dup, XM_047442163.1:c.*306_*309dup, XM_047442164.1:c.*306_*309dup, XM_047442165.1:c.*306_*309dup, XM_047442166.1:c.*306_*309dup

Select item 14911892097.

rs1491189209 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: X:18913075 (GRCh38)
X:18931193 (GRCh37)
Canonical SPDI:: NC_000023.11:18913074:CA:
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000023.11:g.18913075_18913076del, NC_000023.10:g.18931193_18931194del, NG_016622.1:g.76287_76288del

Select item 14910003068.

rs1491000306 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18979747 (GRCh38)
X:18997865 (GRCh37)
Canonical SPDI:: NC_000023.11:18979746:C:T
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.18979747C>T, NC_000023.10:g.18997865C>T, NG_016622.1:g.9616G>A

Select item 14908954949.

rs1490895494 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18957584 (GRCh38)
X:18975702 (GRCh37)
Canonical SPDI:: NC_000023.11:18957583:T:C
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.18957584T>C, NC_000023.10:g.18975702T>C, NG_016622.1:g.31779A>G

Select item 149075245110.

rs1490752451 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18929233 (GRCh38)
X:18947351 (GRCh37)
Canonical SPDI:: NC_000023.11:18929232:A:G
Gene:: PHKA2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000023.11:g.18929233A>G, NC_000023.10:g.18947351A>G, NG_016622.1:g.60130T>C, NM_000292.3:c.1319T>C, NM_000292.2:c.1319T>C, XM_005274548.6:c.1319T>C, XM_005274548.5:c.1319T>C, XM_005274548.4:c.1319T>C, XM_005274548.3:c.1319T>C, XM_005274548.2:c.1319T>C, XM_005274548.1:c.1319T>C, XM_005274550.6:c.1319T>C, XM_005274550.5:c.1319T>C, XM_005274550.4:c.1319T>C, XM_005274550.3:c.1319T>C, XM_005274550.2:c.1319T>C, XM_005274550.1:c.1319T>C, XM_006724496.5:c.1319T>C, XM_006724496.4:c.1319T>C, XM_006724496.3:c.1319T>C, XM_006724496.2:c.1319T>C, XM_006724496.1:c.1319T>C, XM_011545537.4:c.1220T>C, XM_011545537.3:c.1220T>C, XM_011545537.2:c.1220T>C, XM_011545537.1:c.1220T>C, XR_950461.4:n.1501T>C, XR_950461.3:n.1489T>C, XR_950461.2:n.1503T>C, XR_950461.1:n.1503T>C, XM_011545538.4:c.302T>C, XM_011545538.3:c.302T>C, XM_011545538.2:c.302T>C, XM_011545538.1:c.302T>C, XM_017029580.3:c.413T>C, XM_017029580.2:c.413T>C, XM_017029580.1:c.413T>C, XR_001755697.3:n.1501T>C, XR_001755697.2:n.1489T>C, XR_001755697.1:n.1503T>C, XM_047442163.1:c.1220T>C, XM_047442164.1:c.1220T>C, XM_047442165.1:c.1220T>C, XM_047442166.1:c.773T>C, NP_000283.1:p.Val440Ala, XP_005274605.1:p.Val440Ala, XP_005274607.1:p.Val440Ala, XP_006724559.1:p.Val440Ala, XP_011543839.1:p.Val407Ala, XP_011543840.1:p.Val101Ala, XP_016885069.1:p.Val138Ala, XP_047298119.1:p.Val407Ala, XP_047298120.1:p.Val407Ala, XP_047298121.1:p.Val407Ala, XP_047298122.1:p.Val258Ala

Select item 149072557211.

rs1490725572 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: X:18904604 (GRCh38)
X:18922722 (GRCh37)
Canonical SPDI:: NC_000023.11:18904603:T:A,NC_000023.11:18904603:T:C
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18904604T>A, NC_000023.11:g.18904604T>C, NC_000023.10:g.18922722T>A, NC_000023.10:g.18922722T>C, NG_016622.1:g.84759A>T, NG_016622.1:g.84759A>G

Select item 149060850712.

rs1490608507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18968030 (GRCh38)
X:18986148 (GRCh37)
Canonical SPDI:: NC_000023.11:18968029:C:T
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18968030C>T, NC_000023.10:g.18986148C>T, NG_016622.1:g.21333G>A

Select item 149055324813.

rs1490553248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:18925454 (GRCh38)
X:18943572 (GRCh37)
Canonical SPDI:: NC_000023.11:18925453:C:G
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
G=0.00001/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.18925454C>G, NC_000023.10:g.18943572C>G, NG_016622.1:g.63909G>C

Select item 149044436214.

rs1490444362 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:18914839 (GRCh38)
X:18932957 (GRCh37)
Canonical SPDI:: NC_000023.11:18914838:G:A
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.18914839G>A, NC_000023.10:g.18932957G>A, NG_016622.1:g.74524C>T

Select item 149039820515.

rs1490398205 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:18968985 (GRCh38)
X:18987103 (GRCh37)
Canonical SPDI:: NC_000023.11:18968984:T:C
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.18968985T>C, NC_000023.10:g.18987103T>C, NG_016622.1:g.20378A>G

Select item 149037388216.

rs1490373882 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAACCTCCACCTCCCTG [Show Flanks]
Chromosome:: X:18913480 (GRCh38)
X:18931599 (GRCh37)
Canonical SPDI:: NC_000023.11:18913480:CTGCAACCTCCACCTCCCTG:CTGCAACCTCCACCTCCCTGCAACCTCCACCTCCCTG
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTGCAACCTCCACCTCCCTGCAACCTCCACCTCCCTG=0./0 (ALFA)
CTGCAACCTCCACCTCC=0.000008/2 (TOPMED)
CTGCAACCTCCACCTCC=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18913484_18913500dup, NC_000023.10:g.18931602_18931618dup, NG_016622.1:g.75866_75882dup

Select item 149028253517.

rs1490282535 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:18935103 (GRCh38)
X:18953221 (GRCh37)
Canonical SPDI:: NC_000023.11:18935102:C:T
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.18935103C>T, NC_000023.10:g.18953221C>T, NG_016622.1:g.54260G>A

Select item 149027572718.

rs1490275727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:18914134 (GRCh38)
X:18932252 (GRCh37)
Canonical SPDI:: NC_000023.11:18914133:A:G
Gene:: PHKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.18914134A>G, NC_000023.10:g.18932252A>G, NG_016622.1:g.75229T>C

Select item 149025271419.

rs1490252714 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAA>- [Show Flanks]
Chromosome:: X:18894941 (GRCh38)
X:18913059 (GRCh37)
Canonical SPDI:: NC_000023.11:18894937:GAAGAA:GAA
Gene:: PHKA2 (Varview), PHKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: GAAGAA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.18894938GAA[1], NC_000023.10:g.18913056GAA[1], NG_016622.1:g.94420TTC[1], NR_029379.1:n.1259GAA[1]

Select item 149015298320.

rs1490152983 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:18892541 (GRCh38)
X:18910659 (GRCh37)
Canonical SPDI:: NC_000023.11:18892540:G:C
Gene:: PHKA2 (Varview), PHKA2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.18892541G>C, NC_000023.10:g.18910659G>C, NG_016622.1:g.96822C>G, NM_000292.3:c.*944C>G, NM_000292.2:c.*944C>G, XM_005274548.6:c.*944C>G, XM_005274548.4:c.*944C>G, XM_005274548.3:c.*944C>G, XM_005274550.6:c.*944C>G, XM_005274550.5:c.*944C>G, XM_005274550.4:c.*944C>G, XM_005274550.3:c.*944C>G, XM_006724496.5:c.*944C>G, XM_006724496.4:c.*944C>G, XM_006724496.3:c.*944C>G, XM_006724496.2:c.*944C>G, XM_011545537.4:c.*944C>G, XM_011545537.3:c.*944C>G, XM_011545537.2:c.*944C>G, XM_011545537.1:c.*944C>G, XM_011545538.4:c.*944C>G, XM_011545538.3:c.*944C>G, XM_011545538.2:c.*944C>G, XM_011545538.1:c.*944C>G, XM_017029580.3:c.*944C>G, XM_017029580.2:c.*944C>G, XM_017029580.1:c.*944C>G, XM_047442163.1:c.*944C>G, XM_047442164.1:c.*944C>G, XM_047442165.1:c.*944C>G, XM_047442166.1:c.*944C>G

<< First< Prev

Page of 806

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 16114

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity