SNP Links for Gene (Select 4952) - SNP

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Select item 14915887601.

rs1491588760 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: X:129538719 (GRCh38)
X:128672697 (GRCh37)
Canonical SPDI:: NC_000023.11:129538719:T:TGT
Gene:: OCRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.00004/2 (GnomAD)
HGVS:: NC_000023.11:g.129538720_129538721insGT, NC_000023.10:g.128672697_128672698insGT, NG_008638.1:g.3446_3447insGT

Select item 14915729172.

rs1491572917 has merged into rs765929333 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAAATAAATAAATAAATAAATAAATAAA>-,TAAA,TAAATAAA,TAAATAAATAAA,TAAATAAATAAATAAA,TAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,TAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA [Show Flanks]
Chromosome:: X:129554976 (GRCh38)
X:128688953 (GRCh37)
Canonical SPDI:: NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA,NC_000023.11:129554948:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA:AAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAATAAA
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAATAAATAAATAAATAAATAAATAAATAAA=0./0 (ALFA)
-=0.3844/1451 (1000Genomes)
AAATAAAT=0.475/19 (GENOME_DK)
HGVS:: NC_000023.11:g.129554952TAAA[6], NC_000023.11:g.129554952TAAA[7], NC_000023.11:g.129554952TAAA[8], NC_000023.11:g.129554952TAAA[9], NC_000023.11:g.129554952TAAA[10], NC_000023.11:g.129554952TAAA[11], NC_000023.11:g.129554952TAAA[12], NC_000023.11:g.129554952TAAA[14], NC_000023.11:g.129554952TAAA[15], NC_000023.11:g.129554952TAAA[16], NC_000023.11:g.129554952TAAA[17], NC_000023.11:g.129554952TAAA[18], NC_000023.11:g.129554952TAAA[19], NC_000023.10:g.128688929TAAA[6], NC_000023.10:g.128688929TAAA[7], NC_000023.10:g.128688929TAAA[8], NC_000023.10:g.128688929TAAA[9], NC_000023.10:g.128688929TAAA[10], NC_000023.10:g.128688929TAAA[11], NC_000023.10:g.128688929TAAA[12], NC_000023.10:g.128688929TAAA[14], NC_000023.10:g.128688929TAAA[15], NC_000023.10:g.128688929TAAA[16], NC_000023.10:g.128688929TAAA[17], NC_000023.10:g.128688929TAAA[18], NC_000023.10:g.128688929TAAA[19], NG_008638.1:g.19678TAAA[6], NG_008638.1:g.19678TAAA[7], NG_008638.1:g.19678TAAA[8], NG_008638.1:g.19678TAAA[9], NG_008638.1:g.19678TAAA[10], NG_008638.1:g.19678TAAA[11], NG_008638.1:g.19678TAAA[12], NG_008638.1:g.19678TAAA[14], NG_008638.1:g.19678TAAA[15], NG_008638.1:g.19678TAAA[16], NG_008638.1:g.19678TAAA[17], NG_008638.1:g.19678TAAA[18], NG_008638.1:g.19678TAAA[19]

Select item 14915631683.

rs1491563168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:129573010 (GRCh38)
X:128706988 (GRCh37)
Canonical SPDI:: NC_000023.11:129573010:T:TT
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.129573011dup, NC_000023.10:g.128706988dup, NG_008638.1:g.37737dup

Select item 14915433324.

rs1491543332 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: X:129569840 (GRCh38)
X:128703817 (GRCh37)
Canonical SPDI:: NC_000023.11:129569838:TCT:T
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000023.11:g.129569840_129569841del, NC_000023.10:g.128703817_128703818del, NG_008638.1:g.34566_34567del

Select item 14914311045.

rs1491431104 has merged into rs35415909 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:129581741 (GRCh38)
X:128715718 (GRCh37)
Canonical SPDI:: NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.129581727GT[7], NC_000023.11:g.129581727GT[8], NC_000023.11:g.129581727GT[9], NC_000023.11:g.129581727GT[10], NC_000023.11:g.129581727GT[11], NC_000023.11:g.129581727GT[12], NC_000023.11:g.129581727GT[14], NC_000023.11:g.129581727GT[15], NC_000023.11:g.129581727GT[16], NC_000023.11:g.129581727GT[17], NC_000023.10:g.128715704GT[7], NC_000023.10:g.128715704GT[8], NC_000023.10:g.128715704GT[9], NC_000023.10:g.128715704GT[10], NC_000023.10:g.128715704GT[11], NC_000023.10:g.128715704GT[12], NC_000023.10:g.128715704GT[14], NC_000023.10:g.128715704GT[15], NC_000023.10:g.128715704GT[16], NC_000023.10:g.128715704GT[17], NG_008638.1:g.46453GT[7], NG_008638.1:g.46453GT[8], NG_008638.1:g.46453GT[9], NG_008638.1:g.46453GT[10], NG_008638.1:g.46453GT[11], NG_008638.1:g.46453GT[12], NG_008638.1:g.46453GT[14], NG_008638.1:g.46453GT[15], NG_008638.1:g.46453GT[16], NG_008638.1:g.46453GT[17]

Select item 14912706526.

rs1491270652 has merged into rs1175575587 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: X:129538728 (GRCh38)
X:128672705 (GRCh37)
Canonical SPDI:: NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000023.11:129538718:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: OCRL (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.129538728_129538740del, NC_000023.11:g.129538729_129538740del, NC_000023.11:g.129538730_129538740del, NC_000023.11:g.129538733_129538740del, NC_000023.11:g.129538737_129538740del, NC_000023.11:g.129538738_129538740del, NC_000023.11:g.129538739_129538740del, NC_000023.11:g.129538740del, NC_000023.11:g.129538740dup, NC_000023.11:g.129538739_129538740dup, NC_000023.11:g.129538738_129538740dup, NC_000023.11:g.129538737_129538740dup, NC_000023.11:g.129538736_129538740dup, NC_000023.11:g.129538735_129538740dup, NC_000023.11:g.129538722_129538740dup, NC_000023.10:g.128672705_128672717del, NC_000023.10:g.128672706_128672717del, NC_000023.10:g.128672707_128672717del, NC_000023.10:g.128672710_128672717del, NC_000023.10:g.128672714_128672717del, NC_000023.10:g.128672715_128672717del, NC_000023.10:g.128672716_128672717del, NC_000023.10:g.128672717del, NC_000023.10:g.128672717dup, NC_000023.10:g.128672716_128672717dup, NC_000023.10:g.128672715_128672717dup, NC_000023.10:g.128672714_128672717dup, NC_000023.10:g.128672713_128672717dup, NC_000023.10:g.128672712_128672717dup, NC_000023.10:g.128672699_128672717dup, NG_008638.1:g.3454_3466del, NG_008638.1:g.3455_3466del, NG_008638.1:g.3456_3466del, NG_008638.1:g.3459_3466del, NG_008638.1:g.3463_3466del, NG_008638.1:g.3464_3466del, NG_008638.1:g.3465_3466del, NG_008638.1:g.3466del, NG_008638.1:g.3466dup, NG_008638.1:g.3465_3466dup, NG_008638.1:g.3464_3466dup, NG_008638.1:g.3463_3466dup, NG_008638.1:g.3462_3466dup, NG_008638.1:g.3461_3466dup, NG_008638.1:g.3448_3466dup

Select item 14911173417.

rs1491117341 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: X:129554950 (GRCh38)
X:128688927 (GRCh37)
Canonical SPDI:: NC_000023.11:129554947:AAAA:AA
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000079/1 (TOMMO)
HGVS:: NC_000023.11:g.129554950_129554951del, NC_000023.10:g.128688927_128688928del, NG_008638.1:g.19676_19677del

Select item 14910406038.

rs1491040603 has merged into rs11377304 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:129536992 (GRCh38)
X:128670969 (GRCh37)
Canonical SPDI:: NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:129536979:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.192318/726 (1000Genomes)
HGVS:: NC_000023.11:g.129536992_129536999del, NC_000023.11:g.129536993_129536999del, NC_000023.11:g.129536994_129536999del, NC_000023.11:g.129536995_129536999del, NC_000023.11:g.129536996_129536999del, NC_000023.11:g.129536997_129536999del, NC_000023.11:g.129536998_129536999del, NC_000023.11:g.129536999del, NC_000023.11:g.129536999dup, NC_000023.11:g.129536998_129536999dup, NC_000023.11:g.129536997_129536999dup, NC_000023.11:g.129536993_129536999dup, NC_000023.11:g.129536992_129536999dup, NC_000023.11:g.129536991_129536999dup, NC_000023.10:g.128670969_128670976del, NC_000023.10:g.128670970_128670976del, NC_000023.10:g.128670971_128670976del, NC_000023.10:g.128670972_128670976del, NC_000023.10:g.128670973_128670976del, NC_000023.10:g.128670974_128670976del, NC_000023.10:g.128670975_128670976del, NC_000023.10:g.128670976del, NC_000023.10:g.128670976dup, NC_000023.10:g.128670975_128670976dup, NC_000023.10:g.128670974_128670976dup, NC_000023.10:g.128670970_128670976dup, NC_000023.10:g.128670969_128670976dup, NC_000023.10:g.128670968_128670976dup, NG_008638.1:g.1718_1725del, NG_008638.1:g.1719_1725del, NG_008638.1:g.1720_1725del, NG_008638.1:g.1721_1725del, NG_008638.1:g.1722_1725del, NG_008638.1:g.1723_1725del, NG_008638.1:g.1724_1725del, NG_008638.1:g.1725del, NG_008638.1:g.1725dup, NG_008638.1:g.1724_1725dup, NG_008638.1:g.1723_1725dup, NG_008638.1:g.1719_1725dup, NG_008638.1:g.1718_1725dup, NG_008638.1:g.1717_1725dup

Select item 14910238009.

rs1491023800 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: X:129547544 (GRCh38)
X:128681521 (GRCh37)
Canonical SPDI:: NC_000023.11:129547542:AGA:A
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.00017/2 (ALFA)
HGVS:: NC_000023.11:g.129547544_129547545del, NC_000023.10:g.128681521_128681522del, NG_008638.1:g.12270_12271del

Select item 149097525910.

rs1490975259 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: X:129536723 (GRCh38)
X:128670700 (GRCh37)
Canonical SPDI:: NC_000023.11:129536722:C:G,NC_000023.11:129536722:C:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.129536723C>G, NC_000023.11:g.129536723C>T, NC_000023.10:g.128670700C>G, NC_000023.10:g.128670700C>T, NG_008638.1:g.1449C>G, NG_008638.1:g.1449C>T

Select item 149087031211.

rs1490870312 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:129570707 (GRCh38)
X:128704684 (GRCh37)
Canonical SPDI:: NC_000023.11:129570706:T:A
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.129570707T>A, NC_000023.10:g.128704684T>A, NG_008638.1:g.35433T>A

Select item 149083123712.

rs1490831237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:129582801 (GRCh38)
X:128716778 (GRCh37)
Canonical SPDI:: NC_000023.11:129582800:G:T
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.129582801G>T, NC_000023.10:g.128716778G>T, NG_008638.1:g.47527G>T

Select item 149075965713.

rs1490759657 has merged into rs35415909 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: X:129581741 (GRCh38)
X:128715718 (GRCh37)
Canonical SPDI:: NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000023.11:129581725:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000023.11:g.129581727GT[7], NC_000023.11:g.129581727GT[8], NC_000023.11:g.129581727GT[9], NC_000023.11:g.129581727GT[10], NC_000023.11:g.129581727GT[11], NC_000023.11:g.129581727GT[12], NC_000023.11:g.129581727GT[14], NC_000023.11:g.129581727GT[15], NC_000023.11:g.129581727GT[16], NC_000023.11:g.129581727GT[17], NC_000023.10:g.128715704GT[7], NC_000023.10:g.128715704GT[8], NC_000023.10:g.128715704GT[9], NC_000023.10:g.128715704GT[10], NC_000023.10:g.128715704GT[11], NC_000023.10:g.128715704GT[12], NC_000023.10:g.128715704GT[14], NC_000023.10:g.128715704GT[15], NC_000023.10:g.128715704GT[16], NC_000023.10:g.128715704GT[17], NG_008638.1:g.46453GT[7], NG_008638.1:g.46453GT[8], NG_008638.1:g.46453GT[9], NG_008638.1:g.46453GT[10], NG_008638.1:g.46453GT[11], NG_008638.1:g.46453GT[12], NG_008638.1:g.46453GT[14], NG_008638.1:g.46453GT[15], NG_008638.1:g.46453GT[16], NG_008638.1:g.46453GT[17]

Select item 149074729914.

rs1490747299 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAG>- [Show Flanks]
Chromosome:: X:129559728 (GRCh38)
X:128693705 (GRCh37)
Canonical SPDI:: NC_000023.11:129559723:AAAGAAAG:AAAG
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAG=0./0 (ALFA)
-=0.000048/5 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000023.11:g.129559724AAAG[1], NC_000023.10:g.128693701AAAG[1], NG_008638.1:g.24450AAAG[1]

Select item 149073506515.

rs1490735065 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:129534187 (GRCh38)
X:128668164 (GRCh37)
Canonical SPDI:: NC_000023.11:129534186:C:G
HGVS:: NC_000023.11:g.129534187C>G, NC_000023.10:g.128668164C>G

Select item 149072225416.

rs1490722254 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:129539125 (GRCh38)
X:128673102 (GRCh37)
Canonical SPDI:: NC_000023.11:129539124:A:G
Gene:: OCRL (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.129539125A>G, NC_000023.10:g.128673102A>G, NG_008638.1:g.3851A>G

Select item 149072119217.

rs1490721192 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: X:129557941 (GRCh38)
X:128691919 (GRCh37)
Canonical SPDI:: NC_000023.11:129557941:TTTTTT:TTTTTTT
Gene:: OCRL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.129557947dup, NC_000023.10:g.128691924dup, NG_008638.1:g.22673dup, NM_000276.4:c.436dup, NM_000276.3:c.436dup, NM_001587.4:c.436dup, NM_001587.3:c.436dup, NM_001318784.2:c.439dup, NM_001318784.1:c.439dup, NP_000267.2:p.Ser146fs, NP_001578.2:p.Ser146fs, NP_001305713.1:p.Ser147fs

Select item 149071680118.

rs1490716801 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:129537770 (GRCh38)
X:128671747 (GRCh37)
Canonical SPDI:: NC_000023.11:129537769:T:A
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.129537770T>A, NC_000023.10:g.128671747T>A, NG_008638.1:g.2496T>A

Select item 149062299619.

rs1490622996 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:129547996 (GRCh38)
X:128681973 (GRCh37)
Canonical SPDI:: NC_000023.11:129547995:T:G
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.129547996T>G, NC_000023.10:g.128681973T>G, NG_008638.1:g.12722T>G

Select item 149046939520.

rs1490469395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: X:129566912 (GRCh38)
X:128700889 (GRCh37)
Canonical SPDI:: NC_000023.11:129566911:T:C,NC_000023.11:129566911:T:G
Gene:: OCRL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.129566912T>C, NC_000023.11:g.129566912T>G, NC_000023.10:g.128700889T>C, NC_000023.10:g.128700889T>G, NG_008638.1:g.31638T>C, NG_008638.1:g.31638T>G

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