SNP Links for Gene (Select 6217) - SNP

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Select item 14915203351.

rs1491520335 has merged into rs11295505 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 19:39437291 (GRCh38)
19:39927931 (GRCh37)
Canonical SPDI:: NC_000019.10:39437285:TTTTTTTTTTTT:TTTTT,NC_000019.10:39437285:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:39437285:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:39437285:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:39437285:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: RPS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.14186/526 (TWINSUK)
-=0.15439/595 (ALSPAC)
-=0.20569/123 (NorthernSweden)
-=0.225/9 (GENOME_DK)
-=0.3724/1865 (1000Genomes)
HGVS:: NC_000019.10:g.39437291_39437297del, NC_000019.10:g.39437296_39437297del, NC_000019.10:g.39437297del, NC_000019.10:g.39437297dup, NC_000019.10:g.39437296_39437297dup, NC_000019.9:g.39927931_39927937del, NC_000019.9:g.39927936_39927937del, NC_000019.9:g.39927937del, NC_000019.9:g.39927937dup, NC_000019.9:g.39927936_39927937dup

Select item 14904222622.

rs1490422262 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:39434241 (GRCh38)
19:39924881 (GRCh37)
Canonical SPDI:: NC_000019.10:39434240:C:G
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.39434241C>G, NC_000019.9:g.39924881C>G

Select item 14902044563.

rs1490204456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:39435458 (GRCh38)
19:39926098 (GRCh37)
Canonical SPDI:: NC_000019.10:39435457:C:G,NC_000019.10:39435457:C:T
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.39435458C>G, NC_000019.10:g.39435458C>T, NC_000019.9:g.39926098C>G, NC_000019.9:g.39926098C>T

Select item 14882212774.

rs1488221277 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:39437507 (GRCh38)
19:39928147 (GRCh37)
Canonical SPDI:: NC_000019.10:39437506:T:C
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.39437507T>C, NC_000019.9:g.39928147T>C

Select item 14881496295.

rs1488149629 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:39432801 (GRCh38)
19:39923441 (GRCh37)
Canonical SPDI:: NC_000019.10:39432800:G:A,NC_000019.10:39432800:G:T
Gene:: RPS16 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000142/2 (TOMMO)
HGVS:: NC_000019.10:g.39432801G>A, NC_000019.10:g.39432801G>T, NC_000019.9:g.39923441G>A, NC_000019.9:g.39923441G>T

Select item 14876748076.

rs1487674807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:39434386 (GRCh38)
19:39925026 (GRCh37)
Canonical SPDI:: NC_000019.10:39434385:G:A
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000019.10:g.39434386G>A, NC_000019.9:g.39925026G>A

Select item 14876715087.

rs1487671508 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:39435091 (GRCh38)
19:39925731 (GRCh37)
Canonical SPDI:: NC_000019.10:39435090:G:A
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000019.10:g.39435091G>A, NC_000019.9:g.39925731G>A

Select item 14875460628.

rs1487546062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:39437328 (GRCh38)
19:39927968 (GRCh37)
Canonical SPDI:: NC_000019.10:39437327:G:A,NC_000019.10:39437327:G:T
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.39437328G>A, NC_000019.10:g.39437328G>T, NC_000019.9:g.39927968G>A, NC_000019.9:g.39927968G>T

Select item 14873476799.

rs1487347679 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:39434810 (GRCh38)
19:39925450 (GRCh37)
Canonical SPDI:: NC_000019.10:39434809:T:C
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.39434810T>C, NC_000019.9:g.39925450T>C

Select item 148617372910.

rs1486173729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:39435738 (GRCh38)
19:39926378 (GRCh37)
Canonical SPDI:: NC_000019.10:39435737:G:A
Gene:: RPS16 (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_000019.10:g.39435738G>A, NC_000019.9:g.39926378G>A

Select item 148603407611.

rs1486034076 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:39434138 (GRCh38)
19:39924778 (GRCh37)
Canonical SPDI:: NC_000019.10:39434137:C:G
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.39434138C>G, NC_000019.9:g.39924778C>G

Select item 148548847312.

rs1485488473 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:39432652 (GRCh38)
19:39923292 (GRCh37)
Canonical SPDI:: NC_000019.10:39432651:C:A
Gene:: RPS16 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.39432652C>A, NC_000019.9:g.39923292C>A

Select item 148531283813.

rs1485312838 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:39437614 (GRCh38)
19:39928254 (GRCh37)
Canonical SPDI:: NC_000019.10:39437613:C:T
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.39437614C>T, NC_000019.9:g.39928254C>T

Select item 148440683414.

rs1484406834 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 19:39435323 (GRCh38)
19:39925963 (GRCh37)
Canonical SPDI:: NC_000019.10:39435322:T:C,NC_000019.10:39435322:T:G
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.39435323T>C, NC_000019.10:g.39435323T>G, NC_000019.9:g.39925963T>C, NC_000019.9:g.39925963T>G

Select item 148273683615.

rs1482736836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:39436155 (GRCh38)
19:39926795 (GRCh37)
Canonical SPDI:: NC_000019.10:39436154:G:A
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.39436155G>A, NC_000019.9:g.39926795G>A

Select item 148235515816.

rs1482355158 has merged into rs754921360 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTTTT [Show Flanks]
Chromosome:: 19:39437281 (GRCh38)
19:39927921 (GRCh37)
Canonical SPDI:: NC_000019.10:39437278:TTTTTT:TT,NC_000019.10:39437278:TTTTTT:TTTT,NC_000019.10:39437278:TTTTTT:TTTTTTT
Gene:: RPS16 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.00027/1 (TWINSUK)
-=0.00052/2 (ALSPAC)
HGVS:: NC_000019.10:g.39437281_39437284del, NC_000019.10:g.39437283_39437284del, NC_000019.10:g.39437284dup, NC_000019.9:g.39927921_39927924del, NC_000019.9:g.39927923_39927924del, NC_000019.9:g.39927924dup

Select item 148203482817.

rs1482034828 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:39436978 (GRCh38)
19:39927618 (GRCh37)
Canonical SPDI:: NC_000019.10:39436977:T:C
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.39436978T>C, NC_000019.9:g.39927618T>C

Select item 148180347918.

rs1481803479 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:39433694 (GRCh38)
19:39924334 (GRCh37)
Canonical SPDI:: NC_000019.10:39433693:T:C
Gene:: RPS16 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.39433694T>C, NC_000019.9:g.39924334T>C, NM_001020.6:c.218A>G, NM_001020.5:c.218A>G, NM_001020.4:c.218A>G, NM_001363860.2:c.218A>G, NM_001363860.1:c.218A>G, NM_001321111.2:c.167A>G, NM_001321111.1:c.167A>G, NP_001011.1:p.Lys73Arg, NP_001350789.1:p.Lys73Arg, NP_001308040.1:p.Lys56Arg

Select item 148147787319.

rs1481477873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:39437065 (GRCh38)
19:39927705 (GRCh37)
Canonical SPDI:: NC_000019.10:39437064:A:T
Gene:: RPS16 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.39437065A>T, NC_000019.9:g.39927705A>T

Select item 148127586120.

rs1481275861 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTTCAAGAGCT>- [Show Flanks]
Chromosome:: 19:39435535 (GRCh38)
19:39926175 (GRCh37)
Canonical SPDI:: NC_000019.10:39435534:CTTTCAAGAGCT:
Gene:: RPS16 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.39435535_39435546del, NC_000019.9:g.39926175_39926186del

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