SNP Links for Gene (Select 100506674) - SNP

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Select item 14915684151.

rs1491568415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CG [Show Flanks]
Chromosome:: 5:44748859 (GRCh38)
5:44748962 (GRCh37)
Canonical SPDI:: NC_000005.10:44748859:G:GCG
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCG=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
GC=0.000154/1 (GnomAD)
HGVS:: NC_000005.10:g.44748860_44748861insCG, NC_000005.9:g.44748962_44748963insCG

Select item 14914465832.

rs1491446583 has merged into rs374674858 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,G,GG,GGGG,GGGGG,GGGGGG [Show Flanks]
Chromosome:: 5:44748868 (GRCh38)
5:44748970 (GRCh37)
Canonical SPDI:: NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGG,NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGGG,NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGGGG,NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGGGGGG,NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGGGGGGG,NC_000005.10:44748858:GGGGGGGGGGGG:GGGGGGGGGGGGGGG
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGGGGG=0./0 (ALFA)
HGVS:: NC_000005.10:g.44748868_44748870del, NC_000005.10:g.44748869_44748870del, NC_000005.10:g.44748870del, NC_000005.10:g.44748870dup, NC_000005.10:g.44748869_44748870dup, NC_000005.10:g.44748868_44748870dup, NC_000005.9:g.44748970_44748972del, NC_000005.9:g.44748971_44748972del, NC_000005.9:g.44748972del, NC_000005.9:g.44748972dup, NC_000005.9:g.44748971_44748972dup, NC_000005.9:g.44748970_44748972dup

Select item 14914166783.

rs1491416678 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACTCTC [Show Flanks]
Chromosome:: 5:44744041 (GRCh38)
5:44744144 (GRCh37)
Canonical SPDI:: NC_000005.10:44744041:CTCTC:CTCTCACTCTC
Gene:: MRPS30-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCTCACTCTC=0./0 (ALFA)
HGVS:: NC_000005.10:g.44744042_44744046CT[2]CACTCTC[1], NC_000005.9:g.44744144_44744148CT[2]CACTCTC[1]

Select item 14913367994.

rs1491336799 has merged into rs1554021939 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACAC>-,AC,ACACAC,ACACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC [Show Flanks]
Chromosome:: 5:44744077 (GRCh38)
5:44744179 (GRCh37)
Canonical SPDI:: NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACACACACACACAC,NC_000005.10:44744061:CACACACACACACACACAC:CACACACACACACACACACACACACACAC
Gene:: MRPS30-DT (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACAC=0./0 (ALFA)
-=0.000136/36 (TOPMED)
CA=0.02/12 (NorthernSweden)
HGVS:: NC_000005.10:g.44744063AC[7], NC_000005.10:g.44744063AC[8], NC_000005.10:g.44744063AC[10], NC_000005.10:g.44744063AC[11], NC_000005.10:g.44744063AC[12], NC_000005.10:g.44744063AC[13], NC_000005.10:g.44744063AC[14], NC_000005.9:g.44744165AC[7], NC_000005.9:g.44744165AC[8], NC_000005.9:g.44744165AC[10], NC_000005.9:g.44744165AC[11], NC_000005.9:g.44744165AC[12], NC_000005.9:g.44744165AC[13], NC_000005.9:g.44744165AC[14]

Select item 14911856295.

rs1491185629 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGA [Show Flanks]
Chromosome:: 5:44780483 (GRCh38)
5:44780586 (GRCh37)
Canonical SPDI:: NC_000005.10:44780483:AAGA:AAGAAGA
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAGA=0./0 (ALFA)
AAG=0.000014/2 (GnomAD)
AAG=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.44780485_44780487dup, NC_000005.9:g.44780587_44780589dup

Select item 14911237686.

rs1491123768 has merged into rs35103509 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA,AAAAAA [Show Flanks]
Chromosome:: 5:44802078 (GRCh38)
5:44802180 (GRCh37)
Canonical SPDI:: NC_000005.10:44802077:AAAAAAAAAA:AAAAAAAAA,NC_000005.10:44802077:AAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:44802077:AAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:44802077:AAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
-=0.018333/11 (NorthernSweden)
-=0.02505/25 (GoNL)
HGVS:: NC_000005.10:g.44802087del, NC_000005.10:g.44802087dup, NC_000005.10:g.44802086_44802087dup, NC_000005.10:g.44802083_44802087dup, NC_000005.9:g.44802189del, NC_000005.9:g.44802189dup, NC_000005.9:g.44802188_44802189dup, NC_000005.9:g.44802185_44802189dup

Select item 14911021557.

rs1491102155 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 5:44789875 (GRCh38)
5:44789977 (GRCh37)
Canonical SPDI:: NC_000005.10:44789874:AG:
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.44789875_44789876del, NC_000005.9:g.44789977_44789978del

Select item 14909962108.

rs1490996210 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:44757157 (GRCh38)
5:44757259 (GRCh37)
Canonical SPDI:: NC_000005.10:44757156:C:A
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000005.10:g.44757157C>A, NC_000005.9:g.44757259C>A

Select item 14909149509.

rs1490914950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:44793366 (GRCh38)
5:44793468 (GRCh37)
Canonical SPDI:: NC_000005.10:44793365:C:T
Gene:: MRPS30-DT (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_000005.10:g.44793366C>T, NC_000005.9:g.44793468C>T

Select item 149091193310.

rs1490911933 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:44772778 (GRCh38)
5:44772880 (GRCh37)
Canonical SPDI:: NC_000005.10:44772777:T:C
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.44772778T>C, NC_000005.9:g.44772880T>C

Select item 149087521811.

rs1490875218 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:44771736 (GRCh38)
5:44771838 (GRCh37)
Canonical SPDI:: NC_000005.10:44771735:C:T
Gene:: MRPS30-DT (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_000005.10:g.44771736C>T, NC_000005.9:g.44771838C>T

Select item 149085795712.

rs1490857957 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:44757922 (GRCh38)
5:44758024 (GRCh37)
Canonical SPDI:: NC_000005.10:44757921:T:C
Gene:: MRPS30-DT (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_000005.10:g.44757922T>C, NC_000005.9:g.44758024T>C

Select item 149083639213.

rs1490836392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:44779637 (GRCh38)
5:44779739 (GRCh37)
Canonical SPDI:: NC_000005.10:44779636:T:A,NC_000005.10:44779636:T:C
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.44779637T>A, NC_000005.10:g.44779637T>C, NC_000005.9:g.44779739T>A, NC_000005.9:g.44779739T>C

Select item 149076169114.

rs1490761691 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:44763483 (GRCh38)
5:44763585 (GRCh37)
Canonical SPDI:: NC_000005.10:44763482:T:C
Gene:: MRPS30-DT (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_000005.10:g.44763483T>C, NC_000005.9:g.44763585T>C

Select item 149075721515.

rs1490757215 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:44796449 (GRCh38)
5:44796551 (GRCh37)
Canonical SPDI:: NC_000005.10:44796448:T:A,NC_000005.10:44796448:T:C
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.44796449T>A, NC_000005.10:g.44796449T>C, NC_000005.9:g.44796551T>A, NC_000005.9:g.44796551T>C

Select item 149064112816.

rs1490641128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:44788546 (GRCh38)
5:44788648 (GRCh37)
Canonical SPDI:: NC_000005.10:44788545:T:G
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.44788546T>G, NC_000005.9:g.44788648T>G

Select item 149060222617.

rs1490602226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:44759198 (GRCh38)
5:44759300 (GRCh37)
Canonical SPDI:: NC_000005.10:44759197:G:A
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000086/12 (GnomAD)
A=0.000091/24 (TOPMED)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000005.10:g.44759198G>A, NC_000005.9:g.44759300G>A

Select item 149044009318.

rs1490440093 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:44810618 (GRCh38)
5:44810720 (GRCh37)
Canonical SPDI:: NC_000005.10:44810617:C:T
Gene:: MRPS30 (Varview), MRPS30-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.44810618C>T, NC_000005.9:g.44810720C>T

Select item 149041998619.

rs1490419986 [Homo sapiens]

Variant type:: DEL
Alleles:: AATA>- [Show Flanks]
Chromosome:: 5:44772320 (GRCh38)
5:44772422 (GRCh37)
Canonical SPDI:: NC_000005.10:44772319:AATA:
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.00003/8 (TOPMED)
-=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.44772320_44772323del, NC_000005.9:g.44772422_44772425del

Select item 149041011220.

rs1490410112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:44792501 (GRCh38)
5:44792603 (GRCh37)
Canonical SPDI:: NC_000005.10:44792500:G:A,NC_000005.10:44792500:G:C
Gene:: MRPS30-DT (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.02293/67 (KOREAN)
HGVS:: NC_000005.10:g.44792501G>A, NC_000005.10:g.44792501G>C, NC_000005.9:g.44792603G>A, NC_000005.9:g.44792603G>C

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