SNP Links for Gene (Select 10073) - SNP

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Select item 14915184751.

rs1491518475 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:75615999 (GRCh38)
15:75908341 (GRCh37)
Canonical SPDI:: NC_000015.10:75615999:T:TT
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75616000dup, NC_000015.9:g.75908341dup

Select item 14915143632.

rs1491514363 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:75623448 (GRCh38)
15:75915789 (GRCh37)
Canonical SPDI:: NC_000015.10:75623447:CT:
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.00001/1 (GnomAD)
HGVS:: NC_000015.10:g.75623448_75623449del, NC_000015.9:g.75915789_75915790del

Select item 14914498133.

rs1491449813 has merged into rs905447706 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:75613268 (GRCh38)
15:75905609 (GRCh37)
Canonical SPDI:: NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75613258:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.75613268_75613282del, NC_000015.10:g.75613269_75613282del, NC_000015.10:g.75613270_75613282del, NC_000015.10:g.75613271_75613282del, NC_000015.10:g.75613272_75613282del, NC_000015.10:g.75613275_75613282del, NC_000015.10:g.75613276_75613282del, NC_000015.10:g.75613277_75613282del, NC_000015.10:g.75613278_75613282del, NC_000015.10:g.75613279_75613282del, NC_000015.10:g.75613280_75613282del, NC_000015.10:g.75613281_75613282del, NC_000015.10:g.75613282del, NC_000015.10:g.75613282dup, NC_000015.10:g.75613281_75613282dup, NC_000015.10:g.75613280_75613282dup, NC_000015.10:g.75613279_75613282dup, NC_000015.10:g.75613278_75613282dup, NC_000015.10:g.75613277_75613282dup, NC_000015.10:g.75613276_75613282dup, NC_000015.9:g.75905609_75905623del, NC_000015.9:g.75905610_75905623del, NC_000015.9:g.75905611_75905623del, NC_000015.9:g.75905612_75905623del, NC_000015.9:g.75905613_75905623del, NC_000015.9:g.75905616_75905623del, NC_000015.9:g.75905617_75905623del, NC_000015.9:g.75905618_75905623del, NC_000015.9:g.75905619_75905623del, NC_000015.9:g.75905620_75905623del, NC_000015.9:g.75905621_75905623del, NC_000015.9:g.75905622_75905623del, NC_000015.9:g.75905623del, NC_000015.9:g.75905623dup, NC_000015.9:g.75905622_75905623dup, NC_000015.9:g.75905621_75905623dup, NC_000015.9:g.75905620_75905623dup, NC_000015.9:g.75905619_75905623dup, NC_000015.9:g.75905618_75905623dup, NC_000015.9:g.75905617_75905623dup

Select item 14914328924.

rs1491432892 has merged into rs36102472 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:75623457 (GRCh38)
15:75915798 (GRCh37)
Canonical SPDI:: NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:75623448:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
T=0.4/16 (GENOME_DK)
T=0.459665/2302 (1000Genomes)
HGVS:: NC_000015.10:g.75623457_75623462del, NC_000015.10:g.75623459_75623462del, NC_000015.10:g.75623460_75623462del, NC_000015.10:g.75623461_75623462del, NC_000015.10:g.75623462del, NC_000015.10:g.75623462dup, NC_000015.10:g.75623460_75623462dup, NC_000015.10:g.75623455_75623462dup, NC_000015.9:g.75915798_75915803del, NC_000015.9:g.75915800_75915803del, NC_000015.9:g.75915801_75915803del, NC_000015.9:g.75915802_75915803del, NC_000015.9:g.75915803del, NC_000015.9:g.75915803dup, NC_000015.9:g.75915801_75915803dup, NC_000015.9:g.75915796_75915803dup

Select item 14913155525.

rs1491315552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 15:75616000 (GRCh38)
15:75908341 (GRCh37)
Canonical SPDI:: NC_000015.10:75615998:ATA:A
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75616000_75616001del, NC_000015.9:g.75908341_75908342del

Select item 14912755666.

rs1491275566 has merged into rs775817247 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:75603674 (GRCh38)
15:75896015 (GRCh37)
Canonical SPDI:: NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:75603660:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75603674_75603681del, NC_000015.10:g.75603675_75603681del, NC_000015.10:g.75603677_75603681del, NC_000015.10:g.75603679_75603681del, NC_000015.10:g.75603680_75603681del, NC_000015.10:g.75603681del, NC_000015.10:g.75603681dup, NC_000015.10:g.75603680_75603681dup, NC_000015.10:g.75603679_75603681dup, NC_000015.10:g.75603678_75603681dup, NC_000015.10:g.75603677_75603681dup, NC_000015.9:g.75896015_75896022del, NC_000015.9:g.75896016_75896022del, NC_000015.9:g.75896018_75896022del, NC_000015.9:g.75896020_75896022del, NC_000015.9:g.75896021_75896022del, NC_000015.9:g.75896022del, NC_000015.9:g.75896022dup, NC_000015.9:g.75896021_75896022dup, NC_000015.9:g.75896020_75896022dup, NC_000015.9:g.75896019_75896022dup, NC_000015.9:g.75896018_75896022dup

Select item 14911661007.

rs1491166100 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 15:75602540 (GRCh38)
15:75894882 (GRCh37)
Canonical SPDI:: NC_000015.10:75602540::G
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75602540_75602541insG, NC_000015.9:g.75894881_75894882insG

Select item 14911637298.

rs1491163729 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:75601885 (GRCh38)
15:75894226 (GRCh37)
Canonical SPDI:: NC_000015.10:75601884:CT:
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75601885_75601886del, NC_000015.9:g.75894226_75894227del

Select item 14911048039.

rs1491104803 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->AAACAAAAAAAAAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 149108746010.

rs1491087460 has merged into rs141302808 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:75615607 (GRCh38)
15:75907948 (GRCh37)
Canonical SPDI:: NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:75615594:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.75615607_75615619del, NC_000015.10:g.75615608_75615619del, NC_000015.10:g.75615609_75615619del, NC_000015.10:g.75615610_75615619del, NC_000015.10:g.75615612_75615619del, NC_000015.10:g.75615613_75615619del, NC_000015.10:g.75615614_75615619del, NC_000015.10:g.75615615_75615619del, NC_000015.10:g.75615616_75615619del, NC_000015.10:g.75615617_75615619del, NC_000015.10:g.75615618_75615619del, NC_000015.10:g.75615619del, NC_000015.10:g.75615619dup, NC_000015.10:g.75615618_75615619dup, NC_000015.10:g.75615617_75615619dup, NC_000015.10:g.75615616_75615619dup, NC_000015.10:g.75615615_75615619dup, NC_000015.10:g.75615614_75615619dup, NC_000015.10:g.75615613_75615619dup, NC_000015.10:g.75615612_75615619dup, NC_000015.10:g.75615611_75615619dup, NC_000015.10:g.75615610_75615619dup, NC_000015.10:g.75615609_75615619dup, NC_000015.10:g.75615607_75615619dup, NC_000015.10:g.75615605_75615619dup, NC_000015.10:g.75615598_75615619dup, NC_000015.9:g.75907948_75907960del, NC_000015.9:g.75907949_75907960del, NC_000015.9:g.75907950_75907960del, NC_000015.9:g.75907951_75907960del, NC_000015.9:g.75907953_75907960del, NC_000015.9:g.75907954_75907960del, NC_000015.9:g.75907955_75907960del, NC_000015.9:g.75907956_75907960del, NC_000015.9:g.75907957_75907960del, NC_000015.9:g.75907958_75907960del, NC_000015.9:g.75907959_75907960del, NC_000015.9:g.75907960del, NC_000015.9:g.75907960dup, NC_000015.9:g.75907959_75907960dup, NC_000015.9:g.75907958_75907960dup, NC_000015.9:g.75907957_75907960dup, NC_000015.9:g.75907956_75907960dup, NC_000015.9:g.75907955_75907960dup, NC_000015.9:g.75907954_75907960dup, NC_000015.9:g.75907953_75907960dup, NC_000015.9:g.75907952_75907960dup, NC_000015.9:g.75907951_75907960dup, NC_000015.9:g.75907950_75907960dup, NC_000015.9:g.75907948_75907960dup, NC_000015.9:g.75907946_75907960dup, NC_000015.9:g.75907939_75907960dup

Select item 149106025511.

rs1491060255 has merged into rs59630734 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 15:75616156 (GRCh38)
15:75908497 (GRCh37)
Canonical SPDI:: NC_000015.10:75616146:TTTTTTTTTTT:TTTTTTTTT,NC_000015.10:75616146:TTTTTTTTTTT:TTTTTTTTTT,NC_000015.10:75616146:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:75616146:TTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:75616146:TTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.1917/115 (NorthernSweden)
T=0.2436/939 (ALSPAC)
T=0.25/10 (GENOME_DK)
T=0.2549/945 (TWINSUK)
T=0.4539/2273 (1000Genomes)
HGVS:: NC_000015.10:g.75616156_75616157del, NC_000015.10:g.75616157del, NC_000015.10:g.75616157dup, NC_000015.10:g.75616156_75616157dup, NC_000015.10:g.75616155_75616157dup, NC_000015.9:g.75908497_75908498del, NC_000015.9:g.75908498del, NC_000015.9:g.75908498dup, NC_000015.9:g.75908497_75908498dup, NC_000015.9:g.75908496_75908498dup

Select item 149098485712.

rs1490984857 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 15:75599903 (GRCh38)
15:75892244 (GRCh37)
Canonical SPDI:: NC_000015.10:75599902:T:
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.75599903del, NC_000015.9:g.75892244del

Select item 149072585813.

rs1490725858 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75612248 (GRCh38)
15:75904589 (GRCh37)
Canonical SPDI:: NC_000015.10:75612247:G:C
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000447/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000446/2 (Estonian)
HGVS:: NC_000015.10:g.75612248G>C, NC_000015.9:g.75904589G>C

Select item 149064045614.

rs1490640456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:75623564 (GRCh38)
15:75915905 (GRCh37)
Canonical SPDI:: NC_000015.10:75623563:C:G,NC_000015.10:75623563:C:T
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.75623564C>G, NC_000015.10:g.75623564C>T, NC_000015.9:g.75915905C>G, NC_000015.9:g.75915905C>T

Select item 149062874115.

rs1490628741 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 15:75608228 (GRCh38)
15:75900569 (GRCh37)
Canonical SPDI:: NC_000015.10:75608227:A:T
Gene:: SNUPN (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)
T=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.75608228A>T, NC_000015.9:g.75900569A>T

Select item 149037029316.

rs1490370293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:75624234 (GRCh38)
15:75916575 (GRCh37)
Canonical SPDI:: NC_000015.10:75624233:A:C
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.75624234A>C, NC_000015.9:g.75916575A>C

Select item 149030517317.

rs1490305173 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:75607078 (GRCh38)
15:75899419 (GRCh37)
Canonical SPDI:: NC_000015.10:75607077:G:A
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.75607078G>A, NC_000015.9:g.75899419G>A

Select item 149030252518.

rs1490302525 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:75605148 (GRCh38)
15:75897489 (GRCh37)
Canonical SPDI:: NC_000015.10:75605147:A:C
Gene:: SNUPN (Varview)
Functional Consequence:: splice_donor_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75605148A>C, NC_000015.9:g.75897489A>C

Select item 148987004319.

rs1489870043 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:75600348 (GRCh38)
15:75892689 (GRCh37)
Canonical SPDI:: NC_000015.10:75600347:C:T
Gene:: SNUPN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.75600348C>T, NC_000015.9:g.75892689C>T

Select item 148969402420.

rs1489694024 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 15:75598541 (GRCh38)
15:75890882 (GRCh37)
Canonical SPDI:: NC_000015.10:75598540:G:C
Gene:: SNUPN (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.75598541G>C, NC_000015.9:g.75890882G>C, NM_005701.4:c.900C>G, NM_005701.3:c.900C>G, NM_001042581.2:c.900C>G, NM_001042581.1:c.900C>G, NM_001042588.2:c.900C>G, NM_001042588.1:c.900C>G, NP_005692.1:p.Asp300Glu, NP_001036046.1:p.Asp300Glu, NP_001036053.1:p.Asp300Glu

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