SNP Links for Gene (Select 83931) - SNP

Links from Gene

Items: 1 to 20 of 11698

<< First< Prev

Page of 585

Next >Last >>

Select item 14914901011.

rs1491490101 has merged into rs143130232 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:36346005 (GRCh38)
1:36811606 (GRCh37)
Canonical SPDI:: NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36345991:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
TTTT=0.22367/6087 (TOMMO)
HGVS:: NC_000001.11:g.36346005_36346009del, NC_000001.11:g.36346006_36346009del, NC_000001.11:g.36346007_36346009del, NC_000001.11:g.36346008_36346009del, NC_000001.11:g.36346009del, NC_000001.11:g.36346009dup, NC_000001.11:g.36346008_36346009dup, NC_000001.11:g.36346007_36346009dup, NC_000001.11:g.36346006_36346009dup, NC_000001.11:g.36346005_36346009dup, NC_000001.11:g.36346004_36346009dup, NC_000001.11:g.36346003_36346009dup, NC_000001.11:g.36346002_36346009dup, NC_000001.11:g.36346001_36346009dup, NC_000001.11:g.36346000_36346009dup, NC_000001.11:g.36345999_36346009dup, NC_000001.11:g.36345998_36346009dup, NC_000001.11:g.36345997_36346009dup, NC_000001.11:g.36345996_36346009dup, NC_000001.11:g.36345995_36346009dup, NC_000001.11:g.36345994_36346009dup, NC_000001.11:g.36345993_36346009dup, NC_000001.11:g.36345992_36346009dup, NC_000001.11:g.36346009_36346010insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.36346009_36346010insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.36346009_36346010insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.36811606_36811610del, NC_000001.10:g.36811607_36811610del, NC_000001.10:g.36811608_36811610del, NC_000001.10:g.36811609_36811610del, NC_000001.10:g.36811610del, NC_000001.10:g.36811610dup, NC_000001.10:g.36811609_36811610dup, NC_000001.10:g.36811608_36811610dup, NC_000001.10:g.36811607_36811610dup, NC_000001.10:g.36811606_36811610dup, NC_000001.10:g.36811605_36811610dup, NC_000001.10:g.36811604_36811610dup, NC_000001.10:g.36811603_36811610dup, NC_000001.10:g.36811602_36811610dup, NC_000001.10:g.36811601_36811610dup, NC_000001.10:g.36811600_36811610dup, NC_000001.10:g.36811599_36811610dup, NC_000001.10:g.36811598_36811610dup, NC_000001.10:g.36811597_36811610dup, NC_000001.10:g.36811596_36811610dup, NC_000001.10:g.36811595_36811610dup, NC_000001.10:g.36811594_36811610dup, NC_000001.10:g.36811593_36811610dup, NC_000001.10:g.36811610_36811611insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.36811610_36811611insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.36811610_36811611insTTTTTTTTTTTTTTTTTTTTT

Select item 14914420522.

rs1491442052 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 1:36379770 (GRCh38)
1:36845371 (GRCh37)
Canonical SPDI:: NC_000001.11:36379769:GA:
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36379770_36379771del, NC_000001.10:g.36845371_36845372del

Select item 14914084403.

rs1491408440 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 1:36368289 (GRCh38)
1:36833890 (GRCh37)
Canonical SPDI:: NC_000001.11:36368283:TTTTTTTT:TTTTT,NC_000001.11:36368283:TTTTTTTT:TTTTTTT,NC_000001.11:36368283:TTTTTTTT:TTTTTTTTT,NC_000001.11:36368283:TTTTTTTT:TTTTTTTTTT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.36368289_36368291del, NC_000001.11:g.36368291del, NC_000001.11:g.36368291dup, NC_000001.11:g.36368290_36368291dup, NC_000001.10:g.36833890_36833892del, NC_000001.10:g.36833892del, NC_000001.10:g.36833892dup, NC_000001.10:g.36833891_36833892dup

Select item 14913487724.

rs1491348772 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 1:36345969 (GRCh38)
1:36811571 (GRCh37)
Canonical SPDI:: NC_000001.11:36345969:T:TTT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.36345970_36345971insTT, NC_000001.10:g.36811571_36811572insTT

Select item 14913416375.

rs1491341637 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTT [Show Flanks]
Chromosome:: 1:36356419 (GRCh38)
1:36822021 (GRCh37)
Canonical SPDI:: NC_000001.11:36356419:TTT:TTTCTTT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTCTTT=0./0 (ALFA)
TTTC=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36356422_36356423insCTTT, NC_000001.10:g.36822023_36822024insCTTT

Select item 14912759886.

rs1491275988 has merged into rs1553135169 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATATAT>-,AT,ATAT,ATATAT,ATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT [Show Flanks]
Chromosome:: 1:36345983 (GRCh38)
1:36811584 (GRCh37)
Canonical SPDI:: NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000001.11:36345968:ATATATATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATAT=0./0 (ALFA)
AT=0.15/6 (GENOME_DK)
HGVS:: NC_000001.11:g.36345969AT[7], NC_000001.11:g.36345969AT[8], NC_000001.11:g.36345969AT[9], NC_000001.11:g.36345969AT[10], NC_000001.11:g.36345969AT[11], NC_000001.11:g.36345969AT[13], NC_000001.11:g.36345969AT[14], NC_000001.11:g.36345969AT[15], NC_000001.11:g.36345969AT[16], NC_000001.11:g.36345969AT[17], NC_000001.11:g.36345969AT[18], NC_000001.11:g.36345969AT[19], NC_000001.11:g.36345969AT[20], NC_000001.11:g.36345969AT[21], NC_000001.11:g.36345969AT[22], NC_000001.11:g.36345969AT[23], NC_000001.11:g.36345969AT[25], NC_000001.10:g.36811570AT[7], NC_000001.10:g.36811570AT[8], NC_000001.10:g.36811570AT[9], NC_000001.10:g.36811570AT[10], NC_000001.10:g.36811570AT[11], NC_000001.10:g.36811570AT[13], NC_000001.10:g.36811570AT[14], NC_000001.10:g.36811570AT[15], NC_000001.10:g.36811570AT[16], NC_000001.10:g.36811570AT[17], NC_000001.10:g.36811570AT[18], NC_000001.10:g.36811570AT[19], NC_000001.10:g.36811570AT[20], NC_000001.10:g.36811570AT[21], NC_000001.10:g.36811570AT[22], NC_000001.10:g.36811570AT[23], NC_000001.10:g.36811570AT[25]

Select item 14911086817.

rs1491108681 has merged into rs1002682531 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:36356430 (GRCh38)
1:36822031 (GRCh37)
Canonical SPDI:: NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:36356418:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.36356430_36356441del, NC_000001.11:g.36356431_36356441del, NC_000001.11:g.36356432_36356441del, NC_000001.11:g.36356433_36356441del, NC_000001.11:g.36356434_36356441del, NC_000001.11:g.36356435_36356441del, NC_000001.11:g.36356436_36356441del, NC_000001.11:g.36356437_36356441del, NC_000001.11:g.36356438_36356441del, NC_000001.11:g.36356439_36356441del, NC_000001.11:g.36356440_36356441del, NC_000001.11:g.36356441del, NC_000001.11:g.36356441dup, NC_000001.11:g.36356440_36356441dup, NC_000001.11:g.36356439_36356441dup, NC_000001.11:g.36356438_36356441dup, NC_000001.11:g.36356437_36356441dup, NC_000001.11:g.36356436_36356441dup, NC_000001.11:g.36356435_36356441dup, NC_000001.11:g.36356434_36356441dup, NC_000001.11:g.36356433_36356441dup, NC_000001.11:g.36356432_36356441dup, NC_000001.11:g.36356431_36356441dup, NC_000001.11:g.36356430_36356441dup, NC_000001.11:g.36356429_36356441dup, NC_000001.11:g.36356428_36356441dup, NC_000001.11:g.36356427_36356441dup, NC_000001.11:g.36356426_36356441dup, NC_000001.11:g.36356425_36356441dup, NC_000001.11:g.36356423_36356441dup, NC_000001.10:g.36822031_36822042del, NC_000001.10:g.36822032_36822042del, NC_000001.10:g.36822033_36822042del, NC_000001.10:g.36822034_36822042del, NC_000001.10:g.36822035_36822042del, NC_000001.10:g.36822036_36822042del, NC_000001.10:g.36822037_36822042del, NC_000001.10:g.36822038_36822042del, NC_000001.10:g.36822039_36822042del, NC_000001.10:g.36822040_36822042del, NC_000001.10:g.36822041_36822042del, NC_000001.10:g.36822042del, NC_000001.10:g.36822042dup, NC_000001.10:g.36822041_36822042dup, NC_000001.10:g.36822040_36822042dup, NC_000001.10:g.36822039_36822042dup, NC_000001.10:g.36822038_36822042dup, NC_000001.10:g.36822037_36822042dup, NC_000001.10:g.36822036_36822042dup, NC_000001.10:g.36822035_36822042dup, NC_000001.10:g.36822034_36822042dup, NC_000001.10:g.36822033_36822042dup, NC_000001.10:g.36822032_36822042dup, NC_000001.10:g.36822031_36822042dup, NC_000001.10:g.36822030_36822042dup, NC_000001.10:g.36822029_36822042dup, NC_000001.10:g.36822028_36822042dup, NC_000001.10:g.36822027_36822042dup, NC_000001.10:g.36822026_36822042dup, NC_000001.10:g.36822024_36822042dup

Select item 14911005058.

rs1491100505 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:36379770 (GRCh38)
1:36845372 (GRCh37)
Canonical SPDI:: NC_000001.11:36379770:AAAAA:AAAAAA
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000038/10 (TOPMED)
HGVS:: NC_000001.11:g.36379775dup, NC_000001.10:g.36845376dup

Select item 14909987379.

rs1490998737 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 1:36355715 (GRCh38)
1:36821316 (GRCh37)
Canonical SPDI:: NC_000001.11:36355714:G:
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36355715del, NC_000001.10:g.36821316del

Select item 149094297310.

rs1490942973 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:36353605 (GRCh38)
1:36819206 (GRCh37)
Canonical SPDI:: NC_000001.11:36353604:C:A,NC_000001.11:36353604:C:T
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00089/4 (ALFA)
T=0.00004/1 (TOMMO)
T=0.00089/4 (Estonian)
HGVS:: NC_000001.11:g.36353605C>A, NC_000001.11:g.36353605C>T, NC_000001.10:g.36819206C>A, NC_000001.10:g.36819206C>T

Select item 149092154111.

rs1490921541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:36371724 (GRCh38)
1:36837325 (GRCh37)
Canonical SPDI:: NC_000001.11:36371723:G:A
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000084/1 (ALFA)
A=0./0 (KOREAN)
A=0.000022/3 (GnomAD)
HGVS:: NC_000001.11:g.36371724G>A, NC_000001.10:g.36837325G>A

Select item 149085583912.

rs1490855839 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:36372529 (GRCh38)
1:36838131 (GRCh37)
Canonical SPDI:: NC_000001.11:36372529:AAA:AAAA
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36372532dup, NC_000001.10:g.36838133dup

Select item 149081754713.

rs1490817547 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:36387725 (GRCh38)
1:36853326 (GRCh37)
Canonical SPDI:: NC_000001.11:36387724:A:G
Gene:: STK40 (Varview), LOC124904012 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36387725A>G, NC_000001.10:g.36853326A>G, XR_007065779.1:n.1444A>G

Select item 149072481414.

rs1490724814 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:36349986 (GRCh38)
1:36815587 (GRCh37)
Canonical SPDI:: NC_000001.11:36349985:G:A,NC_000001.11:36349985:G:C
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.36349986G>A, NC_000001.11:g.36349986G>C, NC_000001.10:g.36815587G>A, NC_000001.10:g.36815587G>C

Select item 149070818315.

rs1490708183 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:36364293 (GRCh38)
1:36829894 (GRCh37)
Canonical SPDI:: NC_000001.11:36364292:A:G
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.36364293A>G, NC_000001.10:g.36829894A>G

Select item 149069501016.

rs1490695010 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:36369145 (GRCh38)
1:36834746 (GRCh37)
Canonical SPDI:: NC_000001.11:36369144:C:A,NC_000001.11:36369144:C:T
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36369145C>A, NC_000001.11:g.36369145C>T, NC_000001.10:g.36834746C>A, NC_000001.10:g.36834746C>T

Select item 149069087717.

rs1490690877 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:36350859 (GRCh38)
1:36816460 (GRCh37)
Canonical SPDI:: NC_000001.11:36350858:A:C,NC_000001.11:36350858:A:G
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.36350859A>C, NC_000001.11:g.36350859A>G, NC_000001.10:g.36816460A>C, NC_000001.10:g.36816460A>G

Select item 149063971118.

rs1490639711 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:36372087 (GRCh38)
1:36837688 (GRCh37)
Canonical SPDI:: NC_000001.11:36372086:G:A,NC_000001.11:36372086:G:C
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
C=0.000071/2 (TOMMO)
HGVS:: NC_000001.11:g.36372087G>A, NC_000001.11:g.36372087G>C, NC_000001.10:g.36837688G>A, NC_000001.10:g.36837688G>C

Select item 149056242419.

rs1490562424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:36349541 (GRCh38)
1:36815142 (GRCh37)
Canonical SPDI:: NC_000001.11:36349540:C:T
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.36349541C>T, NC_000001.10:g.36815142C>T

Select item 149038031320.

rs1490380313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:36342848 (GRCh38)
1:36808449 (GRCh37)
Canonical SPDI:: NC_000001.11:36342847:A:T
Gene:: STK40 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.36342848A>T, NC_000001.10:g.36808449A>T

<< First< Prev

Page of 585

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 11698

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity