SNP Links for Gene (Select 24149) - SNP

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Select item 14915829321.

rs1491582932 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:43358413 (GRCh38)
6:43326151 (GRCh37)
Canonical SPDI:: NC_000006.12:43358412:AA:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000006.12:g.43358413_43358414del, NC_000006.11:g.43326151_43326152del

Select item 14915666402.

rs1491566640 has merged into rs34131739 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:43364342 (GRCh38)
6:43332080 (GRCh37)
Canonical SPDI:: NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:43364331:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.4275/2141 (1000Genomes)
HGVS:: NC_000006.12:g.43364342_43364349del, NC_000006.12:g.43364344_43364349del, NC_000006.12:g.43364346_43364349del, NC_000006.12:g.43364347_43364349del, NC_000006.12:g.43364348_43364349del, NC_000006.12:g.43364349del, NC_000006.12:g.43364349dup, NC_000006.12:g.43364348_43364349dup, NC_000006.12:g.43364346_43364349dup, NC_000006.11:g.43332080_43332087del, NC_000006.11:g.43332082_43332087del, NC_000006.11:g.43332084_43332087del, NC_000006.11:g.43332085_43332087del, NC_000006.11:g.43332086_43332087del, NC_000006.11:g.43332087del, NC_000006.11:g.43332087dup, NC_000006.11:g.43332086_43332087dup, NC_000006.11:g.43332084_43332087dup

Select item 14915656173.

rs1491565617 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:43352182 (GRCh38)
6:43319920 (GRCh37)
Canonical SPDI:: NC_000006.12:43352181:AT:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.06332/2821 (GnomAD)
-=0.14617/542 (TWINSUK)
-=0.16113/621 (ALSPAC)
HGVS:: NC_000006.12:g.43352182_43352183del, NC_000006.11:g.43319920_43319921del

Select item 14915442964.

rs1491544296 has merged into rs111754328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:43329885 (GRCh38)
6:43297623 (GRCh37)
Canonical SPDI:: NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:43329875:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.393/1968 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000006.12:g.43329885_43329891del, NC_000006.12:g.43329886_43329891del, NC_000006.12:g.43329887_43329891del, NC_000006.12:g.43329888_43329891del, NC_000006.12:g.43329889_43329891del, NC_000006.12:g.43329890_43329891del, NC_000006.12:g.43329891del, NC_000006.12:g.43329891dup, NC_000006.12:g.43329890_43329891dup, NC_000006.12:g.43329889_43329891dup, NC_000006.12:g.43329888_43329891dup, NC_000006.12:g.43329884_43329891dup, NC_000006.11:g.43297623_43297629del, NC_000006.11:g.43297624_43297629del, NC_000006.11:g.43297625_43297629del, NC_000006.11:g.43297626_43297629del, NC_000006.11:g.43297627_43297629del, NC_000006.11:g.43297628_43297629del, NC_000006.11:g.43297629del, NC_000006.11:g.43297629dup, NC_000006.11:g.43297628_43297629dup, NC_000006.11:g.43297627_43297629dup, NC_000006.11:g.43297626_43297629dup, NC_000006.11:g.43297622_43297629dup

Select item 14914523515.

rs1491452351 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:43333484 (GRCh38)
6:43301222 (GRCh37)
Canonical SPDI:: NC_000006.12:43333482:ATA:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.43333484_43333485del, NC_000006.11:g.43301222_43301223del

Select item 14914419786.

rs1491441978 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:43346181 (GRCh38)
6:43313919 (GRCh37)
Canonical SPDI:: NC_000006.12:43346180:CA:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000006.12:g.43346181_43346182del, NC_000006.11:g.43313919_43313920del

Select item 14913802697.

rs1491380269 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACCACCACCA,CCA,CCACCACCA,CCACCACCACCA [Show Flanks]
Chromosome:: 6:43352177 (GRCh38)
6:43319916 (GRCh37)
Canonical SPDI:: NC_000006.12:43352177:CA:CAACACCACCACCA,NC_000006.12:43352177:CA:CACCA,NC_000006.12:43352177:CA:CACCACCACCA,NC_000006.12:43352177:CA:CACCACCACCACCA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACCA=0.00025/4 (ALFA)
HGVS:: NC_000006.12:g.43352179_43352180insACACCACCACCA, NC_000006.12:g.43352179_43352180insCCA, NC_000006.12:g.43352180CCA[3], NC_000006.12:g.43352180CCA[4], NC_000006.11:g.43319917_43319918insACACCACCACCA, NC_000006.11:g.43319917_43319918insCCA, NC_000006.11:g.43319918CCA[3], NC_000006.11:g.43319918CCA[4]

Select item 14913694948.

rs1491369494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 6:43358415 (GRCh38)
6:43326154 (GRCh37)
Canonical SPDI:: NC_000006.12:43358415:TT:TTCTT
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTT=0.000071/1 (ALFA)
TTC=0.000004/1 (TOPMED)
TTC=0.000387/1 (GnomAD)
HGVS:: NC_000006.12:g.43358417_43358418insCTT, NC_000006.11:g.43326155_43326156insCTT

Select item 14913370359.

rs1491337035 has merged into rs10560070 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:43343840 (GRCh38)
6:43311578 (GRCh37)
Canonical SPDI:: NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43343827:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
AAAAAAAAAAAA=0.1286/644 (1000Genomes)
HGVS:: NC_000006.12:g.43343840_43343852del, NC_000006.12:g.43343841_43343852del, NC_000006.12:g.43343842_43343852del, NC_000006.12:g.43343844_43343852del, NC_000006.12:g.43343845_43343852del, NC_000006.12:g.43343847_43343852del, NC_000006.12:g.43343848_43343852del, NC_000006.12:g.43343849_43343852del, NC_000006.12:g.43343850_43343852del, NC_000006.12:g.43343851_43343852del, NC_000006.12:g.43343852del, NC_000006.12:g.43343852dup, NC_000006.12:g.43343851_43343852dup, NC_000006.12:g.43343850_43343852dup, NC_000006.12:g.43343849_43343852dup, NC_000006.12:g.43343848_43343852dup, NC_000006.12:g.43343847_43343852dup, NC_000006.12:g.43343846_43343852dup, NC_000006.12:g.43343844_43343852dup, NC_000006.12:g.43343829_43343852dup, NC_000006.12:g.43343828_43343852dup, NC_000006.12:g.43343852_43343853insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.43343852_43343853insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.43343852_43343853insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.43311578_43311590del, NC_000006.11:g.43311579_43311590del, NC_000006.11:g.43311580_43311590del, NC_000006.11:g.43311582_43311590del, NC_000006.11:g.43311583_43311590del, NC_000006.11:g.43311585_43311590del, NC_000006.11:g.43311586_43311590del, NC_000006.11:g.43311587_43311590del, NC_000006.11:g.43311588_43311590del, NC_000006.11:g.43311589_43311590del, NC_000006.11:g.43311590del, NC_000006.11:g.43311590dup, NC_000006.11:g.43311589_43311590dup, NC_000006.11:g.43311588_43311590dup, NC_000006.11:g.43311587_43311590dup, NC_000006.11:g.43311586_43311590dup, NC_000006.11:g.43311585_43311590dup, NC_000006.11:g.43311584_43311590dup, NC_000006.11:g.43311582_43311590dup, NC_000006.11:g.43311567_43311590dup, NC_000006.11:g.43311566_43311590dup, NC_000006.11:g.43311590_43311591insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.43311590_43311591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.43311590_43311591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149131152410.

rs1491311524 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:43364331 (GRCh38)
6:43332069 (GRCh37)
Canonical SPDI:: NC_000006.12:43364330:GA:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00096/27 (TOMMO)
HGVS:: NC_000006.12:g.43364331_43364332del, NC_000006.11:g.43332069_43332070del

Select item 149127179111.

rs1491271791 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:43347233 (GRCh38)
6:43314972 (GRCh37)
Canonical SPDI:: NC_000006.12:43347233:AAA:AAAA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.43347236dup, NC_000006.11:g.43314974dup

Select item 149125435812.

rs1491254358 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:43343827 (GRCh38)
6:43311565 (GRCh37)
Canonical SPDI:: NC_000006.12:43343826:CA:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00792/94 (ALFA)
HGVS:: NC_000006.12:g.43343827_43343828del, NC_000006.11:g.43311565_43311566del

Select item 149125409613.

rs1491254096 [Homo sapiens]

Variant type:: INS
Alleles:: ->TT,TTT [Show Flanks]
Chromosome:: 6:43358413 (GRCh38)
6:43326152 (GRCh37)
Canonical SPDI:: NC_000006.12:43358413::TT,NC_000006.12:43358413::TTT
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.00084/27 (GnomAD)
HGVS:: NC_000006.12:g.43358413_43358414insTT, NC_000006.12:g.43358413_43358414insTTT, NC_000006.11:g.43326151_43326152insTT, NC_000006.11:g.43326151_43326152insTTT

Select item 149118370114.

rs1491183701 has merged into rs59587962 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:43346539 (GRCh38)
6:43314277 (GRCh37)
Canonical SPDI:: NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346524:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000006.12:g.43346539_43346545del, NC_000006.12:g.43346540_43346545del, NC_000006.12:g.43346541_43346545del, NC_000006.12:g.43346542_43346545del, NC_000006.12:g.43346543_43346545del, NC_000006.12:g.43346544_43346545del, NC_000006.12:g.43346545del, NC_000006.12:g.43346545dup, NC_000006.12:g.43346544_43346545dup, NC_000006.12:g.43346543_43346545dup, NC_000006.12:g.43346542_43346545dup, NC_000006.12:g.43346541_43346545dup, NC_000006.12:g.43346540_43346545dup, NC_000006.12:g.43346538_43346545dup, NC_000006.12:g.43346536_43346545dup, NC_000006.12:g.43346535_43346545dup, NC_000006.12:g.43346534_43346545dup, NC_000006.12:g.43346533_43346545dup, NC_000006.12:g.43346532_43346545dup, NC_000006.12:g.43346545_43346546insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.12:g.43346545_43346546insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.43314277_43314283del, NC_000006.11:g.43314278_43314283del, NC_000006.11:g.43314279_43314283del, NC_000006.11:g.43314280_43314283del, NC_000006.11:g.43314281_43314283del, NC_000006.11:g.43314282_43314283del, NC_000006.11:g.43314283del, NC_000006.11:g.43314283dup, NC_000006.11:g.43314282_43314283dup, NC_000006.11:g.43314281_43314283dup, NC_000006.11:g.43314280_43314283dup, NC_000006.11:g.43314279_43314283dup, NC_000006.11:g.43314278_43314283dup, NC_000006.11:g.43314276_43314283dup, NC_000006.11:g.43314274_43314283dup, NC_000006.11:g.43314273_43314283dup, NC_000006.11:g.43314272_43314283dup, NC_000006.11:g.43314271_43314283dup, NC_000006.11:g.43314270_43314283dup, NC_000006.11:g.43314283_43314284insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000006.11:g.43314283_43314284insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 149116964915.

rs1491169649 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:43346524 (GRCh38)
6:43314262 (GRCh37)
Canonical SPDI:: NC_000006.12:43346523:CA:
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.0002/6 (GnomAD)
-=0.00055/1 (Korea1K)
HGVS:: NC_000006.12:g.43346524_43346525del, NC_000006.11:g.43314262_43314263del

Select item 149116179216.

rs1491161792 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 6:43329876 (GRCh38)
6:43297615 (GRCh37)
Canonical SPDI:: NC_000006.12:43329876:TT:TTCTT
Validated:: by frequency,by alfa
MAF:: TTCTT=0.00008/1 (ALFA)
HGVS:: NC_000006.12:g.43329878_43329879insCTT, NC_000006.11:g.43297616_43297617insCTT

Select item 149112662417.

rs1491126624 has merged into rs71547834 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 6:43358425 (GRCh38)
6:43326163 (GRCh37)
Canonical SPDI:: NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000006.12:43358414:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.3351/1678 (1000Genomes)
HGVS:: NC_000006.12:g.43358425_43358433del, NC_000006.12:g.43358426_43358433del, NC_000006.12:g.43358427_43358433del, NC_000006.12:g.43358428_43358433del, NC_000006.12:g.43358429_43358433del, NC_000006.12:g.43358430_43358433del, NC_000006.12:g.43358431_43358433del, NC_000006.12:g.43358432_43358433del, NC_000006.12:g.43358433del, NC_000006.12:g.43358433dup, NC_000006.12:g.43358432_43358433dup, NC_000006.12:g.43358431_43358433dup, NC_000006.12:g.43358430_43358433dup, NC_000006.12:g.43358429_43358433dup, NC_000006.12:g.43358428_43358433dup, NC_000006.12:g.43358427_43358433dup, NC_000006.12:g.43358426_43358433dup, NC_000006.12:g.43358423_43358433dup, NC_000006.12:g.43358422_43358433dup, NC_000006.12:g.43358421_43358433dup, NC_000006.12:g.43358417_43358433dup, NC_000006.12:g.43358415_43358433dup, NC_000006.12:g.43358433_43358434insTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.43358433_43358434insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.43358433_43358434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.12:g.43358433_43358434insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.43326163_43326171del, NC_000006.11:g.43326164_43326171del, NC_000006.11:g.43326165_43326171del, NC_000006.11:g.43326166_43326171del, NC_000006.11:g.43326167_43326171del, NC_000006.11:g.43326168_43326171del, NC_000006.11:g.43326169_43326171del, NC_000006.11:g.43326170_43326171del, NC_000006.11:g.43326171del, NC_000006.11:g.43326171dup, NC_000006.11:g.43326170_43326171dup, NC_000006.11:g.43326169_43326171dup, NC_000006.11:g.43326168_43326171dup, NC_000006.11:g.43326167_43326171dup, NC_000006.11:g.43326166_43326171dup, NC_000006.11:g.43326165_43326171dup, NC_000006.11:g.43326164_43326171dup, NC_000006.11:g.43326161_43326171dup, NC_000006.11:g.43326160_43326171dup, NC_000006.11:g.43326159_43326171dup, NC_000006.11:g.43326155_43326171dup, NC_000006.11:g.43326153_43326171dup, NC_000006.11:g.43326171_43326172insTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.43326171_43326172insTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.43326171_43326172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000006.11:g.43326171_43326172insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149110771918.

rs1491107719 has merged into rs150168420 [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,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 6:43346192 (GRCh38)
6:43313930 (GRCh37)
Canonical SPDI:: NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000006.12:43346181:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0./0 (GENOME_DK)
AAA=0.3309/1657 (1000Genomes)
HGVS:: NC_000006.12:g.43346192_43346209del, NC_000006.12:g.43346193_43346209del, NC_000006.12:g.43346194_43346209del, NC_000006.12:g.43346195_43346209del, NC_000006.12:g.43346196_43346209del, NC_000006.12:g.43346197_43346209del, NC_000006.12:g.43346198_43346209del, NC_000006.12:g.43346199_43346209del, NC_000006.12:g.43346200_43346209del, NC_000006.12:g.43346201_43346209del, NC_000006.12:g.43346202_43346209del, NC_000006.12:g.43346203_43346209del, NC_000006.12:g.43346204_43346209del, NC_000006.12:g.43346205_43346209del, NC_000006.12:g.43346206_43346209del, NC_000006.12:g.43346207_43346209del, NC_000006.12:g.43346208_43346209del, NC_000006.12:g.43346209del, NC_000006.12:g.43346209dup, NC_000006.12:g.43346208_43346209dup, NC_000006.12:g.43346207_43346209dup, NC_000006.12:g.43346201_43346209dup, NC_000006.11:g.43313930_43313947del, NC_000006.11:g.43313931_43313947del, NC_000006.11:g.43313932_43313947del, NC_000006.11:g.43313933_43313947del, NC_000006.11:g.43313934_43313947del, NC_000006.11:g.43313935_43313947del, NC_000006.11:g.43313936_43313947del, NC_000006.11:g.43313937_43313947del, NC_000006.11:g.43313938_43313947del, NC_000006.11:g.43313939_43313947del, NC_000006.11:g.43313940_43313947del, NC_000006.11:g.43313941_43313947del, NC_000006.11:g.43313942_43313947del, NC_000006.11:g.43313943_43313947del, NC_000006.11:g.43313944_43313947del, NC_000006.11:g.43313945_43313947del, NC_000006.11:g.43313946_43313947del, NC_000006.11:g.43313947del, NC_000006.11:g.43313947dup, NC_000006.11:g.43313946_43313947dup, NC_000006.11:g.43313945_43313947dup, NC_000006.11:g.43313939_43313947dup

Select item 149110248619.

rs1491102486 has merged into rs869069748 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 6:43332554 (GRCh38)
6:43300292 (GRCh37)
Canonical SPDI:: NC_000006.12:43332552:ATA:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00014/2 (TOMMO)
-=0.00019/19 (GnomAD)
HGVS:: NC_000006.12:g.43332554_43332555del, NC_000006.11:g.43300292_43300293del

Select item 149088410420.

rs1490884104 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:43343440 (GRCh38)
6:43311178 (GRCh37)
Canonical SPDI:: NC_000006.12:43343439:T:C
Gene:: ZNF318 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000546/1 (Korea1K)
HGVS:: NC_000006.12:g.43343440T>C, NC_000006.11:g.43311178T>C

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