SNP Links for Gene (Select 6041) - SNP

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Select item 14913927171.

rs1491392717 has merged into rs1011639686 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:182581485 (GRCh38)
1:182550620 (GRCh37)
Canonical SPDI:: NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:182581473:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.182581485_182581499del, NC_000001.11:g.182581486_182581499del, NC_000001.11:g.182581487_182581499del, NC_000001.11:g.182581488_182581499del, NC_000001.11:g.182581489_182581499del, NC_000001.11:g.182581490_182581499del, NC_000001.11:g.182581491_182581499del, NC_000001.11:g.182581492_182581499del, NC_000001.11:g.182581493_182581499del, NC_000001.11:g.182581494_182581499del, NC_000001.11:g.182581495_182581499del, NC_000001.11:g.182581496_182581499del, NC_000001.11:g.182581497_182581499del, NC_000001.11:g.182581498_182581499del, NC_000001.11:g.182581499del, NC_000001.11:g.182581499dup, NC_000001.11:g.182581498_182581499dup, NC_000001.11:g.182581497_182581499dup, NC_000001.11:g.182581496_182581499dup, NC_000001.11:g.182581495_182581499dup, NC_000001.11:g.182581494_182581499dup, NC_000001.11:g.182581493_182581499dup, NC_000001.11:g.182581492_182581499dup, NC_000001.11:g.182581491_182581499dup, NC_000001.11:g.182581490_182581499dup, NC_000001.11:g.182581489_182581499dup, NC_000001.11:g.182581488_182581499dup, NC_000001.11:g.182581487_182581499dup, NC_000001.11:g.182581486_182581499dup, NC_000001.11:g.182581485_182581499dup, NC_000001.11:g.182581484_182581499dup, NC_000001.11:g.182581483_182581499dup, NC_000001.11:g.182581482_182581499dup, NC_000001.11:g.182581480_182581499dup, NC_000001.11:g.182581479_182581499dup, NC_000001.11:g.182581478_182581499dup, NC_000001.11:g.182581476_182581499dup, NC_000001.11:g.182581474_182581499dup, NC_000001.10:g.182550620_182550634del, NC_000001.10:g.182550621_182550634del, NC_000001.10:g.182550622_182550634del, NC_000001.10:g.182550623_182550634del, NC_000001.10:g.182550624_182550634del, NC_000001.10:g.182550625_182550634del, NC_000001.10:g.182550626_182550634del, NC_000001.10:g.182550627_182550634del, NC_000001.10:g.182550628_182550634del, NC_000001.10:g.182550629_182550634del, NC_000001.10:g.182550630_182550634del, NC_000001.10:g.182550631_182550634del, NC_000001.10:g.182550632_182550634del, NC_000001.10:g.182550633_182550634del, NC_000001.10:g.182550634del, NC_000001.10:g.182550634dup, NC_000001.10:g.182550633_182550634dup, NC_000001.10:g.182550632_182550634dup, NC_000001.10:g.182550631_182550634dup, NC_000001.10:g.182550630_182550634dup, NC_000001.10:g.182550629_182550634dup, NC_000001.10:g.182550628_182550634dup, NC_000001.10:g.182550627_182550634dup, NC_000001.10:g.182550626_182550634dup, NC_000001.10:g.182550625_182550634dup, NC_000001.10:g.182550624_182550634dup, NC_000001.10:g.182550623_182550634dup, NC_000001.10:g.182550622_182550634dup, NC_000001.10:g.182550621_182550634dup, NC_000001.10:g.182550620_182550634dup, NC_000001.10:g.182550619_182550634dup, NC_000001.10:g.182550618_182550634dup, NC_000001.10:g.182550617_182550634dup, NC_000001.10:g.182550615_182550634dup, NC_000001.10:g.182550614_182550634dup, NC_000001.10:g.182550613_182550634dup, NC_000001.10:g.182550611_182550634dup, NC_000001.10:g.182550609_182550634dup, NG_009024.3:g.12768_12782del, NG_009024.3:g.12769_12782del, NG_009024.3:g.12770_12782del, NG_009024.3:g.12771_12782del, NG_009024.3:g.12772_12782del, NG_009024.3:g.12773_12782del, NG_009024.3:g.12774_12782del, NG_009024.3:g.12775_12782del, NG_009024.3:g.12776_12782del, NG_009024.3:g.12777_12782del, NG_009024.3:g.12778_12782del, NG_009024.3:g.12779_12782del, NG_009024.3:g.12780_12782del, NG_009024.3:g.12781_12782del, NG_009024.3:g.12782del, NG_009024.3:g.12782dup, NG_009024.3:g.12781_12782dup, NG_009024.3:g.12780_12782dup, NG_009024.3:g.12779_12782dup, NG_009024.3:g.12778_12782dup, NG_009024.3:g.12777_12782dup, NG_009024.3:g.12776_12782dup, NG_009024.3:g.12775_12782dup, NG_009024.3:g.12774_12782dup, NG_009024.3:g.12773_12782dup, NG_009024.3:g.12772_12782dup, NG_009024.3:g.12771_12782dup, NG_009024.3:g.12770_12782dup, NG_009024.3:g.12769_12782dup, NG_009024.3:g.12768_12782dup, NG_009024.3:g.12767_12782dup, NG_009024.3:g.12766_12782dup, NG_009024.3:g.12765_12782dup, NG_009024.3:g.12763_12782dup, NG_009024.3:g.12762_12782dup, NG_009024.3:g.12761_12782dup, NG_009024.3:g.12759_12782dup, NG_009024.3:g.12757_12782dup, NG_009024.2:g.10486_10500del, NG_009024.2:g.10487_10500del, NG_009024.2:g.10488_10500del, NG_009024.2:g.10489_10500del, NG_009024.2:g.10490_10500del, NG_009024.2:g.10491_10500del, NG_009024.2:g.10492_10500del, NG_009024.2:g.10493_10500del, NG_009024.2:g.10494_10500del, NG_009024.2:g.10495_10500del, NG_009024.2:g.10496_10500del, NG_009024.2:g.10497_10500del, NG_009024.2:g.10498_10500del, NG_009024.2:g.10499_10500del, NG_009024.2:g.10500del, NG_009024.2:g.10500dup, NG_009024.2:g.10499_10500dup, NG_009024.2:g.10498_10500dup, NG_009024.2:g.10497_10500dup, NG_009024.2:g.10496_10500dup, NG_009024.2:g.10495_10500dup, NG_009024.2:g.10494_10500dup, NG_009024.2:g.10493_10500dup, NG_009024.2:g.10492_10500dup, NG_009024.2:g.10491_10500dup, NG_009024.2:g.10490_10500dup, NG_009024.2:g.10489_10500dup, NG_009024.2:g.10488_10500dup, NG_009024.2:g.10487_10500dup, NG_009024.2:g.10486_10500dup, NG_009024.2:g.10485_10500dup, NG_009024.2:g.10484_10500dup, NG_009024.2:g.10483_10500dup, NG_009024.2:g.10481_10500dup, NG_009024.2:g.10480_10500dup, NG_009024.2:g.10479_10500dup, NG_009024.2:g.10477_10500dup, NG_009024.2:g.10475_10500dup

Select item 14909125382.

rs1490912538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:182578181 (GRCh38)
1:182547316 (GRCh37)
Canonical SPDI:: NC_000001.11:182578178:AGAG:AG
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.182578179AG[1], NC_000001.10:g.182547314AG[1], NG_009024.3:g.16074CT[1], NG_009024.2:g.13792CT[1]

Select item 14908981193.

rs1490898119 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182580987 (GRCh38)
1:182550122 (GRCh37)
Canonical SPDI:: NC_000001.11:182580986:A:G
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182580987A>G, NC_000001.10:g.182550122A>G, NG_009024.3:g.13269T>C, NG_009024.2:g.10987T>C

Select item 14906885754.

rs1490688575 has merged into rs1388980103 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 1:182576400 (GRCh38)
1:182545535 (GRCh37)
Canonical SPDI:: NC_000001.11:182576399:AAAAAA:AAAAA,NC_000001.11:182576399:AAAAAA:AAAAAAA
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.182576405del, NC_000001.11:g.182576405dup, NC_000001.10:g.182545540del, NC_000001.10:g.182545540dup, NG_009024.3:g.17856del, NG_009024.3:g.17856dup, NG_009024.2:g.15574del, NG_009024.2:g.15574dup

Select item 14904152815.

rs1490415281 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182582432 (GRCh38)
1:182551567 (GRCh37)
Canonical SPDI:: NC_000001.11:182582431:T:C
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.182582432T>C, NC_000001.10:g.182551567T>C, NG_009024.3:g.11824A>G, NG_009024.2:g.9542A>G

Select item 14900811396.

rs1490081139 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182581864 (GRCh38)
1:182550999 (GRCh37)
Canonical SPDI:: NC_000001.11:182581863:C:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.182581864C>T, NC_000001.10:g.182550999C>T, NG_009024.3:g.12392G>A, NG_009024.2:g.10110G>A

Select item 14898560457.

rs1489856045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:182573908 (GRCh38)
1:182543043 (GRCh37)
Canonical SPDI:: NC_000001.11:182573907:C:A
Gene:: RNASEL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182573908C>A, NC_000001.10:g.182543043C>A, NG_009024.3:g.20348G>T, NG_009024.2:g.18066G>T, NM_021133.4:c.*1484G>T, NM_021133.3:c.*1484G>T

Select item 14896201888.

rs1489620188 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182582183 (GRCh38)
1:182551318 (GRCh37)
Canonical SPDI:: NC_000001.11:182582182:C:T
Gene:: RNASEL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.182582183C>T, NC_000001.10:g.182551318C>T, NG_009024.3:g.12073G>A, NG_009024.2:g.9791G>A, NM_021133.4:c.1642G>A, NM_021133.3:c.1642G>A, XM_047427096.1:c.1642G>A, XM_047427106.1:c.1642G>A, NP_066956.1:p.Glu548Lys, XP_047283052.1:p.Glu548Lys, XP_047283062.1:p.Glu548Lys

Select item 14888793029.

rs1488879302 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182575102 (GRCh38)
1:182544237 (GRCh37)
Canonical SPDI:: NC_000001.11:182575101:A:G
Gene:: RNASEL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0002/1 (ALFA)
G=0.0002/1 (Estonian)
HGVS:: NC_000001.11:g.182575102A>G, NC_000001.10:g.182544237A>G, NG_009024.3:g.19154T>C, NG_009024.2:g.16872T>C, NM_021133.4:c.*290T>C, NM_021133.3:c.*290T>C

Select item 148878032910.

rs1488780329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:182577023 (GRCh38)
1:182546158 (GRCh37)
Canonical SPDI:: NC_000001.11:182577022:C:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.182577023C>T, NC_000001.10:g.182546158C>T, NG_009024.3:g.17233G>A, NG_009024.2:g.14951G>A

Select item 148865555911.

rs1488655559 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:182583044 (GRCh38)
1:182552179 (GRCh37)
Canonical SPDI:: NC_000001.11:182583043:A:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182583044A>T, NC_000001.10:g.182552179A>T, NG_009024.3:g.11212T>A, NG_009024.2:g.8930T>A

Select item 148814867012.

rs1488148670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:182576009 (GRCh38)
1:182545144 (GRCh37)
Canonical SPDI:: NC_000001.11:182576008:G:A,NC_000001.11:182576008:G:C
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.182576009G>A, NC_000001.11:g.182576009G>C, NC_000001.10:g.182545144G>A, NC_000001.10:g.182545144G>C, NG_009024.3:g.18247C>T, NG_009024.3:g.18247C>G, NG_009024.2:g.15965C>T, NG_009024.2:g.15965C>G

Select item 148802588913.

rs1488025889 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:182586180 (GRCh38)
1:182555315 (GRCh37)
Canonical SPDI:: NC_000001.11:182586179:A:G
Gene:: RNASEL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.182586180A>G, NC_000001.10:g.182555315A>G, NG_009024.3:g.8076T>C, NG_009024.2:g.5794T>C, NM_021133.4:c.627T>C, NM_021133.3:c.627T>C, XM_047427096.1:c.627T>C, XM_047427106.1:c.627T>C

Select item 148796255714.

rs1487962557 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:182575016 (GRCh38)
1:182544151 (GRCh37)
Canonical SPDI:: NC_000001.11:182575011:CTCTCT:CTCT
Gene:: RNASEL (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.182575012CT[2], NC_000001.10:g.182544147CT[2], NG_009024.3:g.19239AG[2], NG_009024.2:g.16957AG[2], NM_021133.4:c.*375AG[2], NM_021133.3:c.*375AG[2]

Select item 148788904715.

rs1487889047 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:182576235 (GRCh38)
1:182545370 (GRCh37)
Canonical SPDI:: NC_000001.11:182576234:A:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.182576235A>T, NC_000001.10:g.182545370A>T, NG_009024.3:g.18021T>A, NG_009024.2:g.15739T>A

Select item 148784446616.

rs1487844466 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:182582438 (GRCh38)
1:182551573 (GRCh37)
Canonical SPDI:: NC_000001.11:182582437:C:G,NC_000001.11:182582437:C:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.182582438C>G, NC_000001.11:g.182582438C>T, NC_000001.10:g.182551573C>G, NC_000001.10:g.182551573C>T, NG_009024.3:g.11818G>C, NG_009024.3:g.11818G>A, NG_009024.2:g.9536G>C, NG_009024.2:g.9536G>A

Select item 148759218317.

rs1487592183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:182587390 (GRCh38)
1:182556525 (GRCh37)
Canonical SPDI:: NC_000001.11:182587389:G:A,NC_000001.11:182587389:G:T
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.000319/5 (TOMMO)
HGVS:: NC_000001.11:g.182587390G>A, NC_000001.11:g.182587390G>T, NC_000001.10:g.182556525G>A, NC_000001.10:g.182556525G>T, NG_009024.3:g.6866C>T, NG_009024.3:g.6866C>A, NG_009024.2:g.4584C>T, NG_009024.2:g.4584C>A

Select item 148754061518.

rs1487540615 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:182588600 (GRCh38)
1:182557735 (GRCh37)
Canonical SPDI:: NC_000001.11:182588599:T:C
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.182588600T>C, NC_000001.10:g.182557735T>C, NG_009024.3:g.5656A>G, NG_009024.2:g.3374A>G

Select item 148739717219.

rs1487397172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:182576356 (GRCh38)
1:182545491 (GRCh37)
Canonical SPDI:: NC_000001.11:182576355:A:C
Gene:: RNASEL (Varview)
Functional Consequence:: genic_downstream_transcript_variant,3_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.182576356A>C, NC_000001.10:g.182545491A>C, NG_009024.3:g.17900T>G, NG_009024.2:g.15618T>G, NM_021133.4:c.1939T>G, NM_021133.3:c.1939T>G, XM_047427096.1:c.*15T>G, NP_066956.1:p.Phe647Val

Select item 148718882120.

rs1487188821 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:182578717 (GRCh38)
1:182547852 (GRCh37)
Canonical SPDI:: NC_000001.11:182578716:G:A
Gene:: RNASEL (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.182578717G>A, NC_000001.10:g.182547852G>A, NG_009024.3:g.15539C>T, NG_009024.2:g.13257C>T

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