SNP Links for Gene (Select 64949) - SNP

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Select item 14912746451.

rs1491274645 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:3048115 (GRCh38)
20:3028761 (GRCh37)
Canonical SPDI:: NC_000020.11:3048111:AGAGA:AGA
Gene:: MRPS26 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AGA=0.000071/1 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3048113GA[1], NC_000020.10:g.3028759GA[1], NM_030811.4:c.*244GA[1], NM_030811.3:c.*244GA[1], XM_047440390.1:c.*233GA[1]

Select item 14911946422.

rs1491194642 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAGAATC [Show Flanks]
Chromosome:: 20:3048112 (GRCh38)
20:3028759 (GRCh37)
Canonical SPDI:: NC_000020.11:3048112:GAGAATC:GAGAATCGAGAATC
Gene:: MRPS26 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GAGAATCGAGAATC=0./0 (ALFA)
GAGAATC=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3048113_3048119dup, NC_000020.10:g.3028759_3028765dup, NM_030811.4:c.*244_*250dup, NM_030811.3:c.*244_*250dup, XM_047440390.1:c.*233_*239dup

Select item 14910329623.

rs1491032962 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:3048249 (GRCh38)
20:3028895 (GRCh37)
Canonical SPDI:: NC_000020.11:3048245:ACACA:ACA
Gene:: MRPS26 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000166/44 (TOPMED)
-=0.000207/29 (GnomAD)
HGVS:: NC_000020.11:g.3048247CA[1], NC_000020.10:g.3028893CA[1], NM_030811.4:c.*378CA[1], NM_030811.3:c.*378CA[1], XM_047440390.1:c.*367CA[1]

Select item 14901353034.

rs1490135303 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3047402 (GRCh38)
20:3028048 (GRCh37)
Canonical SPDI:: NC_000020.11:3047401:A:G
Gene:: MRPS26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3047402A>G, NC_000020.10:g.3028048A>G

Select item 14899704425.

rs1489970442 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3047026 (GRCh38)
20:3027672 (GRCh37)
Canonical SPDI:: NC_000020.11:3047025:T:C
Gene:: MRPS26 (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_000020.11:g.3047026T>C, NC_000020.10:g.3027672T>C

Select item 14877239436.

rs1487723943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 20:3044652 (GRCh38)
20:3025298 (GRCh37)
Canonical SPDI:: NC_000020.11:3044651:G:A,NC_000020.11:3044651:G:T
Gene:: GNRH2 (Varview), MRPS26 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3044652G>A, NC_000020.11:g.3044652G>T, NC_000020.10:g.3025298G>A, NC_000020.10:g.3025298G>T

Select item 14871991157.

rs1487199115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:3048465 (GRCh38)
20:3029111 (GRCh37)
Canonical SPDI:: NC_000020.11:3048464:C:A,NC_000020.11:3048464:C:T
Gene:: MRPS26 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.3048465C>A, NC_000020.11:g.3048465C>T, NC_000020.10:g.3029111C>A, NC_000020.10:g.3029111C>T

Select item 14869679648.

rs1486967964 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3048304 (GRCh38)
20:3028950 (GRCh37)
Canonical SPDI:: NC_000020.11:3048303:C:T
Gene:: MRPS26 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00028/5 (TOMMO)
HGVS:: NC_000020.11:g.3048304C>T, NC_000020.10:g.3028950C>T

Select item 14868774909.

rs1486877490 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3047737 (GRCh38)
20:3028383 (GRCh37)
Canonical SPDI:: NC_000020.11:3047736:A:G
Gene:: MRPS26 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_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_000020.11:g.3047737A>G, NC_000020.10:g.3028383A>G, NM_030811.4:c.486A>G, NM_030811.3:c.486A>G, XM_047440390.1:c.649A>G, XP_047296346.1:p.Arg217Gly

Select item 148685107210.

rs1486851072 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:3046557 (GRCh38)
20:3027203 (GRCh37)
Canonical SPDI:: NC_000020.11:3046556:T:C
Gene:: MRPS26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.000009/1 (GnomAD_exomes)
C=0.000344/1 (KOREAN)
HGVS:: NC_000020.11:g.3046557T>C, NC_000020.10:g.3027203T>C

Select item 148677685711.

rs1486776857 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3045240 (GRCh38)
20:3025886 (GRCh37)
Canonical SPDI:: NC_000020.11:3045239:A:G
Gene:: GNRH2 (Varview), MRPS26 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.3045240A>G, NC_000020.10:g.3025886A>G

Select item 148668572112.

rs1486685721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:3044215 (GRCh38)
20:3024861 (GRCh37)
Canonical SPDI:: NC_000020.11:3044214:C:T
Gene:: GNRH2 (Varview), MRPS26 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.3044215C>T, NC_000020.10:g.3024861C>T

Select item 148586143513.

rs1485861435 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 20:3046766 (GRCh38)
20:3027412 (GRCh37)
Canonical SPDI:: NC_000020.11:3046765:C:G,NC_000020.11:3046765:C:T
Gene:: MRPS26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/1 (GnomAD)
T=0.000008/1 (GnomAD_exomes)
T=0.000685/2 (KOREAN)
HGVS:: NC_000020.11:g.3046766C>G, NC_000020.11:g.3046766C>T, NC_000020.10:g.3027412C>G, NC_000020.10:g.3027412C>T, XM_047440390.1:c.512C>G, XM_047440390.1:c.512C>T, XP_047296346.1:p.Ser171Cys, XP_047296346.1:p.Ser171Phe

Select item 148568458914.

rs1485684589 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:3045083 (GRCh38)
20:3025729 (GRCh37)
Canonical SPDI:: NC_000020.11:3045082:T:G
Gene:: GNRH2 (Varview), MRPS26 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3045083T>G, NC_000020.10:g.3025729T>G

Select item 148497878915.

rs1484978789 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:3047347 (GRCh38)
20:3027993 (GRCh37)
Canonical SPDI:: NC_000020.11:3047346:CC:C
Gene:: MRPS26 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.3047348del, NC_000020.10:g.3027994del

Select item 148389716916.

rs1483897169 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3046450 (GRCh38)
20:3027096 (GRCh37)
Canonical SPDI:: NC_000020.11:3046449:A:G
Gene:: MRPS26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000020.11:g.3046450A>G, NC_000020.10:g.3027096A>G, NM_030811.4:c.290A>G, NM_030811.3:c.290A>G, XM_047440390.1:c.290A>G, NP_110438.1:p.Lys97Arg, XP_047296346.1:p.Lys97Arg

Select item 148354241817.

rs1483542418 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:3046035 (GRCh38)
20:3026681 (GRCh37)
Canonical SPDI:: NC_000020.11:3046034:CCC:CC
Gene:: GNRH2 (Varview), MRPS26 (Varview)
Functional Consequence:: 500B_downstream_variant,upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.3046037del, NC_000020.10:g.3026683del, NM_030811.3:c.-32del

Select item 148351341818.

rs1483513418 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:3046253 (GRCh38)
20:3026899 (GRCh37)
Canonical SPDI:: NC_000020.11:3046252:A:G
Gene:: MRPS26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.3046253A>G, NC_000020.10:g.3026899A>G, NM_030811.4:c.185A>G, NM_030811.3:c.185A>G, XM_047440390.1:c.185A>G, NP_110438.1:p.His62Arg, XP_047296346.1:p.His62Arg

Select item 148342080419.

rs1483420804 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 20:3048538 (GRCh38)
20:3029184 (GRCh37)
Canonical SPDI:: NC_000020.11:3048537:C:G
Gene:: MRPS26 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.3048538C>G, NC_000020.10:g.3029184C>G

Select item 148327725220.

rs1483277252 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:3046673 (GRCh38)
20:3027319 (GRCh37)
Canonical SPDI:: NC_000020.11:3046672:C:A,NC_000020.11:3046672:C:T
Gene:: MRPS26 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.3046673C>A, NC_000020.11:g.3046673C>T, NC_000020.10:g.3027319C>A, NC_000020.10:g.3027319C>T, NM_030811.4:c.419C>A, NM_030811.4:c.419C>T, NM_030811.3:c.419C>A, NM_030811.3:c.419C>T, XM_047440390.1:c.419C>A, XM_047440390.1:c.419C>T, NP_110438.1:p.Ala140Asp, NP_110438.1:p.Ala140Val, XP_047296346.1:p.Ala140Asp, XP_047296346.1:p.Ala140Val

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