SNP Links for Gene (Select 54460) - SNP

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Select item 14914763751.

rs1491476375 has merged into rs143084308 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 1:150304766 (GRCh38)
1:150277194 (GRCh37)
Canonical SPDI:: NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:150304755:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.150304766_150304769del, NC_000001.11:g.150304768_150304769del, NC_000001.11:g.150304769del, NC_000001.11:g.150304769dup, NC_000001.11:g.150304768_150304769dup, NC_000001.11:g.150304767_150304769dup, NC_000001.11:g.150304766_150304769dup, NC_000001.11:g.150304765_150304769dup, NC_000001.11:g.150304764_150304769dup, NW_003871055.3:g.7120179_7120182del, NW_003871055.3:g.7120181_7120182del, NW_003871055.3:g.7120182del, NW_003871055.3:g.7120182dup, NW_003871055.3:g.7120181_7120182dup, NW_003871055.3:g.7120180_7120182dup, NW_003871055.3:g.7120179_7120182dup, NW_003871055.3:g.7120178_7120182dup, NW_003871055.3:g.7120177_7120182dup, NC_000001.10:g.150277196_150277199del, NC_000001.10:g.150277198_150277199del, NC_000001.10:g.150277199del, NC_000001.10:g.150277199dup, NC_000001.10:g.150277198_150277199dup, NC_000001.10:g.150277197_150277199dup, NC_000001.10:g.150277196_150277199dup, NC_000001.10:g.150277195_150277199dup, NC_000001.10:g.150277194_150277199dup

Select item 14914037152.

rs1491403715 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 1:150295675 (GRCh38)
1:150268095 (GRCh37)
Canonical SPDI:: NC_000001.11:150295671:CACAC:CAC
Gene:: MRPS21 (Varview), LOC105371434 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CAC=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.150295673AC[1], NW_003871055.3:g.7111086AC[1], NC_000001.10:g.150268093AC[1]

Select item 14913930903.

rs1491393090 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 1:150299412 (GRCh38)
1:150271838 (GRCh37)
Canonical SPDI:: NC_000001.11:150299412:A:AAA
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150299413_150299414insAA, NW_003871055.3:g.7114826_7114827insAA, NC_000001.10:g.150271838_150271839insAA

Select item 14913229314.

rs1491322931 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:150304756 (GRCh38)
1:150277185 (GRCh37)
Canonical SPDI:: NC_000001.11:150304756:A:AGA
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
AG=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150304757_150304758insGA, NW_003871055.3:g.7120170_7120171insGA, NC_000001.10:g.150277185_150277186insGA

Select item 14911576125.

rs1491157612 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:150299412 (GRCh38)
1:150271837 (GRCh37)
Canonical SPDI:: NC_000001.11:150299411:CA:
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150299412_150299413del, NW_003871055.3:g.7114825_7114826del, NC_000001.10:g.150271837_150271838del

Select item 14911089106.

rs1491108910 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:150295672 (GRCh38)
1:150268093 (GRCh37)
Canonical SPDI:: NC_000001.11:150295672:A:AA
Gene:: MRPS21 (Varview), LOC105371434 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.150295673dup, NW_003871055.3:g.7111086dup, NC_000001.10:g.150268093dup

Select item 14910702827.

rs1491070282 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG [Show Flanks]
Chromosome:: 1:150293111 (GRCh38)
1:150265531 (GRCh37)
Canonical SPDI:: NC_000001.11:150293109:GCG:G,NC_000001.11:150293109:GCG:GCGCG
Gene:: MRPS21 (Varview), LOC105371434 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
GC=0.000004/1 (TOPMED)
-=0.000094/13 (GnomAD)
HGVS:: NC_000001.11:g.150293111_150293112del, NC_000001.11:g.150293111_150293112dup, NW_003871055.3:g.7108524_7108525del, NW_003871055.3:g.7108524_7108525dup, NC_000001.10:g.150265531_150265532del, NC_000001.10:g.150265531_150265532dup

Select item 14910306288.

rs1491030628 has merged into rs10623734 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 1:150306312 (GRCh38)
1:150278743 (GRCh37)
Canonical SPDI:: NC_000001.11:150306310:TCT:T,NC_000001.11:150306310:TCT:TCTCT
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.489217/3947 (ALFA)
-=0.249063/1247 (1000Genomes)
-=0.254367/466 (Korea1K)
-=0.281958/4726 (TOMMO)
-=0.291265/77095 (TOPMED)
-=0.36/216 (NorthernSweden)
-=0.377789/1456 (ALSPAC)
-=0.387054/1734 (Estonian)
-=0.392125/1454 (TWINSUK)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000001.11:g.150306312_150306313del, NC_000001.11:g.150306312_150306313dup, NW_003871055.3:g.7121725_7121726del, NW_003871055.3:g.7121725_7121726dup, NC_000001.10:g.150278743_150278744del, NC_000001.10:g.150278743_150278744dup

Select item 14908640009.

rs1490864000 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:150303538 (GRCh38)
1:150275966 (GRCh37)
Canonical SPDI:: NC_000001.11:150303537:T:C
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.150303538T>C, NW_003871055.3:g.7118951T>C, NC_000001.10:g.150275966T>C

Select item 149081374810.

rs1490813748 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150304593 (GRCh38)
1:150277021 (GRCh37)
Canonical SPDI:: NC_000001.11:150304592:A:G
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.150304593A>G, NW_003871055.3:g.7120006A>G, NC_000001.10:g.150277021A>G

Select item 149065057011.

rs1490650570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150304134 (GRCh38)
1:150276562 (GRCh37)
Canonical SPDI:: NC_000001.11:150304133:A:T
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_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_000001.11:g.150304134A>T, NW_003871055.3:g.7119547A>T, NC_000001.10:g.150276562A>T

Select item 149048233612.

rs1490482336 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150296361 (GRCh38)
1:150268784 (GRCh37)
Canonical SPDI:: NC_000001.11:150296360:C:T
Gene:: MRPS21 (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_000001.11:g.150296361C>T, NW_003871055.3:g.7111774C>T, NC_000001.10:g.150268784C>T

Select item 149044695313.

rs1490446953 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:150297195 (GRCh38)
1:150269618 (GRCh37)
Canonical SPDI:: NC_000001.11:150297194:A:G
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150297195A>G, NW_003871055.3:g.7112608A>G, NC_000001.10:g.150269618A>G

Select item 149033656414.

rs1490336564 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150304850 (GRCh38)
1:150277280 (GRCh37)
Canonical SPDI:: NC_000001.11:150304849:G:A
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.150304850G>A, NW_003871055.3:g.7120263G>A, NC_000001.10:g.150277280G>A

Select item 149011875815.

rs1490118758 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:150298023 (GRCh38)
1:150270448 (GRCh37)
Canonical SPDI:: NC_000001.11:150298022:G:A
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000035/1 (TOMMO)
A=0.000036/5 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000001.11:g.150298023G>A, NW_003871055.3:g.7113436G>A, NC_000001.10:g.150270448G>A

Select item 149006716216.

rs1490067162 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:150299034 (GRCh38)
1:150271459 (GRCh37)
Canonical SPDI:: NC_000001.11:150299033:G:T
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000049/13 (TOPMED)
T=0.000057/8 (GnomAD)
HGVS:: NC_000001.11:g.150299034G>T, NW_003871055.3:g.7114447G>T, NC_000001.10:g.150271459G>T

Select item 148999178217.

rs1489991782 has merged into rs1294429920 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAA [Show Flanks]
Chromosome:: 1:150296855 (GRCh38)
1:150269278 (GRCh37)
Canonical SPDI:: NC_000001.11:150296847:AAAAAAAAAA:AAAAAAA,NC_000001.11:150296847:AAAAAAAAAA:AAAAAAAAA,NC_000001.11:150296847:AAAAAAAAAA:AAAAAAAAAAA
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.00018/3 (TOMMO)
A=0.00047/3 (1000Genomes)
HGVS:: NC_000001.11:g.150296855_150296857del, NC_000001.11:g.150296857del, NC_000001.11:g.150296857dup, NW_003871055.3:g.7112268_7112270del, NW_003871055.3:g.7112270del, NW_003871055.3:g.7112270dup, NC_000001.10:g.150269278_150269280del, NC_000001.10:g.150269280del, NC_000001.10:g.150269280dup

Select item 148995622518.

rs1489956225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:150297594 (GRCh38)
1:150270018 (GRCh37)
Canonical SPDI:: NC_000001.11:150297593:C:G
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.150297594C>G, NW_003871055.3:g.7113007C>G, NC_000001.10:g.150270018C>G

Select item 148967343619.

rs1489673436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:150304101 (GRCh38)
1:150276529 (GRCh37)
Canonical SPDI:: NC_000001.11:150304100:A:T
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.150304101A>T, NW_003871055.3:g.7119514A>T, NC_000001.10:g.150276529A>T

Select item 148961420520.

rs1489614205 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:150301566 (GRCh38)
1:150273993 (GRCh37)
Canonical SPDI:: NC_000001.11:150301565:C:T
Gene:: MRPS21 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000121/17 (GnomAD)
T=0.000128/34 (TOPMED)
HGVS:: NC_000001.11:g.150301566C>T, NW_003871055.3:g.7116979C>T, NC_000001.10:g.150273993C>T

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