SNP Links for Gene (Select 116832) - SNP

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Select item 14915654511.

rs1491565451 [Homo sapiens]

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

Select item 14915553892.

rs1491555389 has merged into rs1052470539 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:187127958 (GRCh38)
3:186845746 (GRCh37)
Canonical SPDI:: NC_000003.12:187127957:TTTTTTTT:TTTTTTT,NC_000003.12:187127957:TTTTTTTT:TTTTTTTTT
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.187127965del, NC_000003.12:g.187127965dup, NC_000003.11:g.186845753del, NC_000003.11:g.186845753dup

Select item 14915495473.

rs1491549547 has merged into rs33967617 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:187137208 (GRCh38)
3:186854996 (GRCh37)
Canonical SPDI:: NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187137198:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAA=0.007/4 (NorthernSweden)
HGVS:: NC_000003.12:g.187137208_187137224del, NC_000003.12:g.187137211_187137224del, NC_000003.12:g.187137212_187137224del, NC_000003.12:g.187137213_187137224del, NC_000003.12:g.187137214_187137224del, NC_000003.12:g.187137216_187137224del, NC_000003.12:g.187137217_187137224del, NC_000003.12:g.187137218_187137224del, NC_000003.12:g.187137219_187137224del, NC_000003.12:g.187137220_187137224del, NC_000003.12:g.187137221_187137224del, NC_000003.12:g.187137222_187137224del, NC_000003.12:g.187137223_187137224del, NC_000003.12:g.187137224del, NC_000003.12:g.187137224dup, NC_000003.12:g.187137223_187137224dup, NC_000003.12:g.187137222_187137224dup, NC_000003.12:g.187137221_187137224dup, NC_000003.12:g.187137220_187137224dup, NC_000003.12:g.187137219_187137224dup, NC_000003.12:g.187137214_187137224dup, NC_000003.11:g.186854996_186855012del, NC_000003.11:g.186854999_186855012del, NC_000003.11:g.186855000_186855012del, NC_000003.11:g.186855001_186855012del, NC_000003.11:g.186855002_186855012del, NC_000003.11:g.186855004_186855012del, NC_000003.11:g.186855005_186855012del, NC_000003.11:g.186855006_186855012del, NC_000003.11:g.186855007_186855012del, NC_000003.11:g.186855008_186855012del, NC_000003.11:g.186855009_186855012del, NC_000003.11:g.186855010_186855012del, NC_000003.11:g.186855011_186855012del, NC_000003.11:g.186855012del, NC_000003.11:g.186855012dup, NC_000003.11:g.186855011_186855012dup, NC_000003.11:g.186855010_186855012dup, NC_000003.11:g.186855009_186855012dup, NC_000003.11:g.186855008_186855012dup, NC_000003.11:g.186855007_186855012dup, NC_000003.11:g.186855002_186855012dup

Select item 14913324474.

rs1491332447 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:187135469 (GRCh38)
3:186853258 (GRCh37)
Canonical SPDI:: NC_000003.12:187135469:T:TT
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000054/1 (ALFA)
T=0.000064/9 (GnomAD)
T=0.000113/30 (TOPMED)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.187135470dup, NC_000003.11:g.186853258dup

Select item 14911028735.

rs1491102873 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:187127957 (GRCh38)
3:186845745 (GRCh37)
Canonical SPDI:: NC_000003.12:187127956:CT:
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187127957_187127958del, NC_000003.11:g.186845745_186845746del

Select item 14910824986.

rs1491082498 has merged into rs72169562 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAGACACAAATTACCAAAATCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:187134490 (GRCh38)
3:186852278 (GRCh37)
Canonical SPDI:: NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:187134483:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAGACACAAATTACCAAAATCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.375/3 (KOREAN)
HGVS:: NC_000003.12:g.187134490_187134502del, NC_000003.12:g.187134495_187134502del, NC_000003.12:g.187134498_187134502del, NC_000003.12:g.187134500_187134502del, NC_000003.12:g.187134501_187134502del, NC_000003.12:g.187134502del, NC_000003.12:g.187134502dup, NC_000003.12:g.187134501_187134502dup, NC_000003.12:g.187134500_187134502dup, NC_000003.12:g.187134499_187134502dup, NC_000003.12:g.187134498_187134502dup, NC_000003.12:g.187134497_187134502dup, NC_000003.12:g.187134496_187134502dup, NC_000003.12:g.187134495_187134502dup, NC_000003.12:g.187134494_187134502dup, NC_000003.12:g.187134493_187134502dup, NC_000003.12:g.187134492_187134502dup, NC_000003.12:g.187134491_187134502dup, NC_000003.12:g.187134490_187134502dup, NC_000003.12:g.187134489_187134502dup, NC_000003.12:g.187134488_187134502dup, NC_000003.12:g.187134487_187134502dup, NC_000003.12:g.187134486_187134502dup, NC_000003.12:g.187134485_187134502dup, NC_000003.12:g.187134484_187134502dup, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134502_187134503insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.12:g.187134484_187134502A[22]GACACAAATTACCAAAATCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000003.11:g.186852278_186852290del, NC_000003.11:g.186852283_186852290del, NC_000003.11:g.186852286_186852290del, NC_000003.11:g.186852288_186852290del, NC_000003.11:g.186852289_186852290del, NC_000003.11:g.186852290del, NC_000003.11:g.186852290dup, NC_000003.11:g.186852289_186852290dup, NC_000003.11:g.186852288_186852290dup, NC_000003.11:g.186852287_186852290dup, NC_000003.11:g.186852286_186852290dup, NC_000003.11:g.186852285_186852290dup, NC_000003.11:g.186852284_186852290dup, NC_000003.11:g.186852283_186852290dup, NC_000003.11:g.186852282_186852290dup, NC_000003.11:g.186852281_186852290dup, NC_000003.11:g.186852280_186852290dup, NC_000003.11:g.186852279_186852290dup, NC_000003.11:g.186852278_186852290dup, NC_000003.11:g.186852277_186852290dup, NC_000003.11:g.186852276_186852290dup, NC_000003.11:g.186852275_186852290dup, NC_000003.11:g.186852274_186852290dup, NC_000003.11:g.186852273_186852290dup, NC_000003.11:g.186852272_186852290dup, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852290_186852291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000003.11:g.186852272_186852290A[22]GACACAAATTACCAAAATCCGCAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14909668897.

rs1490966889 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187137150 (GRCh38)
3:186854938 (GRCh37)
Canonical SPDI:: NC_000003.12:187137149:G:A
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/1 (GnomAD)
A=0.000546/1 (Korea1K)
A=0.000779/13 (TOMMO)
A=0.002396/7 (KOREAN)
HGVS:: NC_000003.12:g.187137150G>A, NC_000003.11:g.186854938G>A

Select item 14902062948.

rs1490206294 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:187133784 (GRCh38)
3:186851572 (GRCh37)
Canonical SPDI:: NC_000003.12:187133783:C:A
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187133784C>A, NC_000003.11:g.186851572C>A

Select item 14901501979.

rs1490150197 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:187135897 (GRCh38)
3:186853685 (GRCh37)
Canonical SPDI:: NC_000003.12:187135896:A:G
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187135897A>G, NC_000003.11:g.186853685A>G

Select item 149008029410.

rs1490080294 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:187120997 (GRCh38)
3:186838785 (GRCh37)
Canonical SPDI:: NC_000003.12:187120996:G:T
Gene:: RPL39L (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.187120997G>T, NC_000003.11:g.186838785G>T, NG_010926.2:g.453C>A, NM_052969.3:c.*148C>A, NM_052969.2:c.*148C>A, NM_052969.1:c.*148C>A

Select item 148998699811.

rs1489986998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:187134898 (GRCh38)
3:186852686 (GRCh37)
Canonical SPDI:: NC_000003.12:187134897:T:C,NC_000003.12:187134897:T:G
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.187134898T>C, NC_000003.12:g.187134898T>G, NC_000003.11:g.186852686T>C, NC_000003.11:g.186852686T>G

Select item 148982602612.

rs1489826026 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:187129075 (GRCh38)
3:186846863 (GRCh37)
Canonical SPDI:: NC_000003.12:187129074:G:C
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.187129075G>C, NC_000003.11:g.186846863G>C

Select item 148978562813.

rs1489785628 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:187130170 (GRCh38)
3:186847958 (GRCh37)
Canonical SPDI:: NC_000003.12:187130169:G:A,NC_000003.12:187130169:G:T
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.187130170G>A, NC_000003.12:g.187130170G>T, NC_000003.11:g.186847958G>A, NC_000003.11:g.186847958G>T

Select item 148971294514.

rs1489712945 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187141390 (GRCh38)
3:186859178 (GRCh37)
Canonical SPDI:: NC_000003.12:187141389:C:T
Gene:: RPL39L (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00392/64 (ALFA)
T=0.00021/4 (TOMMO)
HGVS:: NC_000003.12:g.187141390C>T, NC_000003.11:g.186859178C>T

Select item 148934279215.

rs1489342792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:187137260 (GRCh38)
3:186855048 (GRCh37)
Canonical SPDI:: NC_000003.12:187137259:C:T
Gene:: RPL39L (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_000003.12:g.187137260C>T, NC_000003.11:g.186855048C>T

Select item 148924360816.

rs1489243608 [Homo sapiens]

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

Select item 148923911617.

rs1489239116 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:187138198 (GRCh38)
3:186855986 (GRCh37)
Canonical SPDI:: NC_000003.12:187138197:G:A
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.187138198G>A, NC_000003.11:g.186855986G>A

Select item 148887829618.

rs1488878296 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:187129532 (GRCh38)
3:186847320 (GRCh37)
Canonical SPDI:: NC_000003.12:187129531:T:C
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.187129532T>C, NC_000003.11:g.186847320T>C

Select item 148877103519.

rs1488771035 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:187131851 (GRCh38)
3:186849639 (GRCh37)
Canonical SPDI:: NC_000003.12:187131850:T:G
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.187131851T>G, NC_000003.11:g.186849639T>G

Select item 148871012220.

rs1488710122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:187138308 (GRCh38)
3:186856096 (GRCh37)
Canonical SPDI:: NC_000003.12:187138307:T:C
Gene:: RPL39L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.187138308T>C, NC_000003.11:g.186856096T>C

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