SNP Links for Gene (Select 386746) - SNP

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Select item 14908679721.

rs1490867972 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:3218423 (GRCh38)
11:3239653 (GRCh37)
Canonical SPDI:: NC_000011.10:3218422:T:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/1 (GnomAD_exomes)
G=0.000557/1 (Korea1K)
HGVS:: NC_000011.10:g.3218423T>G, NC_000011.9:g.3239653T>G, NR_027138.1:n.92T>G, NM_001164377.1:c.391A>C, NM_173590.1:c.-369T>G, NP_001157849.1:p.Thr131Pro

Select item 14906553982.

rs1490655398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:3219799 (GRCh38)
11:3241029 (GRCh37)
Canonical SPDI:: NC_000011.10:3219798:C:A,NC_000011.10:3219798:C:T
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000022/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.3219799C>A, NC_000011.10:g.3219799C>T, NC_000011.9:g.3241029C>A, NC_000011.9:g.3241029C>T

Select item 14898369793.

rs1489836979 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACCCAG>- [Show Flanks]
Chromosome:: 11:3220086 (GRCh38)
11:3241316 (GRCh37)
Canonical SPDI:: NC_000011.10:3220084:GACCCAG:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
-=0.000237/33 (GnomAD)
HGVS:: NC_000011.10:g.3220086_3220091del, NC_000011.9:g.3241316_3241321del

Select item 14895513474.

rs1489551347 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3218975 (GRCh38)
11:3240205 (GRCh37)
Canonical SPDI:: NC_000011.10:3218974:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3218975A>G, NC_000011.9:g.3240205A>G

Select item 14894803555.

rs1489480355 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGAGAGACAGAGACAGAGA>- [Show Flanks]
Chromosome:: 11:3219877 (GRCh38)
11:3241107 (GRCh37)
Canonical SPDI:: NC_000011.10:3219865:AGAGACAGAGACAGAGAGACAGAGACAGAGA:AGAGACAGAGA
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGACAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000013/1 (GnomAD)
HGVS:: NC_000011.10:g.3219877_3219896del, NC_000011.9:g.3241107_3241126del

Select item 14879914886.

rs1487991488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3217946 (GRCh38)
11:3239176 (GRCh37)
Canonical SPDI:: NC_000011.10:3217945:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.3217946A>G, NC_000011.9:g.3239176A>G, NM_001164377.1:c.868T>C, NP_001157849.1:p.Ter290Gln

Select item 14875076417.

rs1487507641 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3220539 (GRCh38)
11:3241769 (GRCh37)
Canonical SPDI:: NC_000011.10:3220538:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3220539A>G, NC_000011.9:g.3241769A>G

Select item 14874907518.

rs1487490751 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3219291 (GRCh38)
11:3240521 (GRCh37)
Canonical SPDI:: NC_000011.10:3219290:C:T
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,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_000011.10:g.3219291C>T, NC_000011.9:g.3240521C>T

Select item 14870612699.

rs1487061269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:3218009 (GRCh38)
11:3239239 (GRCh37)
Canonical SPDI:: NC_000011.10:3218008:T:C
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000021/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.3218009T>C, NC_000011.9:g.3239239T>C, NM_001164377.1:c.805A>G, NP_001157849.1:p.Arg269Gly

Select item 148702358310.

rs1487023583 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3220557 (GRCh38)
11:3241787 (GRCh37)
Canonical SPDI:: NC_000011.10:3220556:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.3220557A>G, NC_000011.9:g.3241787A>G

Select item 148657944411.

rs1486579444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:3217891 (GRCh38)
11:3239121 (GRCh37)
Canonical SPDI:: NC_000011.10:3217890:G:T
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3217891G>T, NC_000011.9:g.3239121G>T

Select item 148552584412.

rs1485525844 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCCCCACCGCGAACCACAGGAAGGTGAGCACGA>- [Show Flanks]
Chromosome:: 11:3218537 (GRCh38)
11:3239767 (GRCh37)
Canonical SPDI:: NC_000011.10:3218534:GAGCCCCACCGCGAACCACAGGAAGGTGAGCACGA:GA
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,non_coding_transcript_variant,intron_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000022/3 (GnomAD)
HGVS:: NC_000011.10:g.3218537_3218569del, NC_000011.9:g.3239767_3239799del, NM_001164377.1:c.247_279del, NP_001157849.1:p.Val83_Leu93del

Select item 148272332813.

rs1482723328 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:3220382 (GRCh38)
11:3241612 (GRCh37)
Canonical SPDI:: NC_000011.10:3220381:G:C
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
HGVS:: NC_000011.10:g.3220382G>C, NC_000011.9:g.3241612G>C

Select item 148117769814.

rs1481177698 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:3217491 (GRCh38)
11:3238721 (GRCh37)
Canonical SPDI:: NC_000011.10:3217490:A:C,NC_000011.10:3217490:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_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_000011.10:g.3217491A>C, NC_000011.10:g.3217491A>G, NC_000011.9:g.3238721A>C, NC_000011.9:g.3238721A>G

Select item 148107964715.

rs1481079647 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTGAGAGACAGAGA>- [Show Flanks]
Chromosome:: 11:3219863 (GRCh38)
11:3241093 (GRCh37)
Canonical SPDI:: NC_000011.10:3219861:ATTGAGAGACAGAGA:A
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.3219863_3219876del, NC_000011.9:g.3241093_3241106del

Select item 147855778216.

rs1478557782 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:3218317 (GRCh38)
11:3239547 (GRCh37)
Canonical SPDI:: NC_000011.10:3218316:C:A,NC_000011.10:3218316:C:T
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.3218317C>A, NC_000011.10:g.3218317C>T, NC_000011.9:g.3239547C>A, NC_000011.9:g.3239547C>T, NM_001164377.1:c.497G>T, NM_001164377.1:c.497G>A, NP_001157849.1:p.Trp166Leu, NP_001157849.1:p.Trp166Ter

Select item 147835011017.

rs1478350110 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:3219696 (GRCh38)
11:3240926 (GRCh37)
Canonical SPDI:: NC_000011.10:3219695:C:T
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.3219696C>T, NC_000011.9:g.3240926C>T

Select item 147832192218.

rs1478321922 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:3220721 (GRCh38)
11:3241951 (GRCh37)
Canonical SPDI:: NC_000011.10:3220720:A:G
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000011.10:g.3220721A>G, NC_000011.9:g.3241951A>G

Select item 147812997419.

rs1478129974 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:3218717 (GRCh38)
11:3239947 (GRCh37)
Canonical SPDI:: NC_000011.10:3218716:C:A
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.3218717C>A, NC_000011.9:g.3239947C>A, NM_001164377.1:c.97G>T, NP_001157849.1:p.Val33Leu

Select item 147808946720.

rs1478089467 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:3218969 (GRCh38)
11:3240199 (GRCh37)
Canonical SPDI:: NC_000011.10:3218968:G:A
Gene:: MRGPRG-AS1 (Varview), MRGPRG (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_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_000011.10:g.3218969G>A, NC_000011.9:g.3240199G>A

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