SNP Links for Gene (Select 116444) - SNP

Links from Gene

Items: 1 to 20 of 4381

<< First< Prev

Page of 220

Next >Last >>

Select item 14914609021.

rs1491460902 has merged into rs3222791 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 19:998899 (GRCh38)
19:998898 (GRCh37)
Canonical SPDI:: NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000019.10:998885:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: GRIN3B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
-=0.2948/1136 (ALSPAC)
HGVS:: NC_000019.10:g.998887TG[6], NC_000019.10:g.998887TG[7], NC_000019.10:g.998887TG[8], NC_000019.10:g.998887TG[9], NC_000019.10:g.998887TG[10], NC_000019.10:g.998887TG[11], NC_000019.10:g.998887TG[12], NC_000019.10:g.998887TG[13], NC_000019.10:g.998887TG[14], NC_000019.10:g.998887TG[15], NC_000019.10:g.998887TG[16], NC_000019.10:g.998887TG[17], NC_000019.10:g.998887TG[18], NC_000019.10:g.998887TG[20], NC_000019.10:g.998887TG[21], NC_000019.10:g.998887TG[22], NC_000019.10:g.998887TG[23], NC_000019.10:g.998887TG[24], NC_000019.10:g.998887TG[26], NC_000019.9:g.998886TG[6], NC_000019.9:g.998886TG[7], NC_000019.9:g.998886TG[8], NC_000019.9:g.998886TG[9], NC_000019.9:g.998886TG[10], NC_000019.9:g.998886TG[11], NC_000019.9:g.998886TG[12], NC_000019.9:g.998886TG[13], NC_000019.9:g.998886TG[14], NC_000019.9:g.998886TG[15], NC_000019.9:g.998886TG[16], NC_000019.9:g.998886TG[17], NC_000019.9:g.998886TG[18], NC_000019.9:g.998886TG[20], NC_000019.9:g.998886TG[21], NC_000019.9:g.998886TG[22], NC_000019.9:g.998886TG[23], NC_000019.9:g.998886TG[24], NC_000019.9:g.998886TG[26]

Select item 14911751092.

rs1491175109 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TT [Show Flanks]
Chromosome:: 19:998886 (GRCh38)
19:998886 (GRCh37)
Canonical SPDI:: NC_000019.10:998886:T:TTT
Gene:: GRIN3B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
TT=0.00221/4 (Korea1K)
TT=0.00289/47 (TOMMO)
TT=0.02662/775 (GnomAD)
HGVS:: NC_000019.10:g.998887_998888insTT, NC_000019.9:g.998886_998887insTT

Select item 14910628783.

rs1491062878 has merged into rs71335327 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:1002376 (GRCh38)
19:1002375 (GRCh37)
Canonical SPDI:: NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002363:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.1002376_1002385del, NC_000019.10:g.1002378_1002385del, NC_000019.10:g.1002379_1002385del, NC_000019.10:g.1002380_1002385del, NC_000019.10:g.1002381_1002385del, NC_000019.10:g.1002382_1002385del, NC_000019.10:g.1002383_1002385del, NC_000019.10:g.1002384_1002385del, NC_000019.10:g.1002385del, NC_000019.10:g.1002385dup, NC_000019.10:g.1002384_1002385dup, NC_000019.10:g.1002383_1002385dup, NC_000019.10:g.1002382_1002385dup, NC_000019.10:g.1002381_1002385dup, NC_000019.10:g.1002380_1002385dup, NC_000019.10:g.1002379_1002385dup, NC_000019.10:g.1002378_1002385dup, NC_000019.10:g.1002377_1002385dup, NC_000019.10:g.1002376_1002385dup, NC_000019.10:g.1002375_1002385dup, NC_000019.10:g.1002374_1002385dup, NC_000019.10:g.1002372_1002385dup, NC_000019.9:g.1002375_1002384del, NC_000019.9:g.1002377_1002384del, NC_000019.9:g.1002378_1002384del, NC_000019.9:g.1002379_1002384del, NC_000019.9:g.1002380_1002384del, NC_000019.9:g.1002381_1002384del, NC_000019.9:g.1002382_1002384del, NC_000019.9:g.1002383_1002384del, NC_000019.9:g.1002384del, NC_000019.9:g.1002384dup, NC_000019.9:g.1002383_1002384dup, NC_000019.9:g.1002382_1002384dup, NC_000019.9:g.1002381_1002384dup, NC_000019.9:g.1002380_1002384dup, NC_000019.9:g.1002379_1002384dup, NC_000019.9:g.1002378_1002384dup, NC_000019.9:g.1002377_1002384dup, NC_000019.9:g.1002376_1002384dup, NC_000019.9:g.1002375_1002384dup, NC_000019.9:g.1002374_1002384dup, NC_000019.9:g.1002373_1002384dup, NC_000019.9:g.1002371_1002384dup

Select item 14910260054.

rs1491026005 has merged into rs34464705 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 19:1002478 (GRCh38)
19:1002477 (GRCh37)
Canonical SPDI:: NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:1002465:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.1002478_1002484del, NC_000019.10:g.1002480_1002484del, NC_000019.10:g.1002481_1002484del, NC_000019.10:g.1002482_1002484del, NC_000019.10:g.1002483_1002484del, NC_000019.10:g.1002484del, NC_000019.10:g.1002484dup, NC_000019.10:g.1002483_1002484dup, NC_000019.10:g.1002482_1002484dup, NC_000019.10:g.1002481_1002484dup, NC_000019.9:g.1002477_1002483del, NC_000019.9:g.1002479_1002483del, NC_000019.9:g.1002480_1002483del, NC_000019.9:g.1002481_1002483del, NC_000019.9:g.1002482_1002483del, NC_000019.9:g.1002483del, NC_000019.9:g.1002483dup, NC_000019.9:g.1002482_1002483dup, NC_000019.9:g.1002481_1002483dup, NC_000019.9:g.1002480_1002483dup

Select item 14909331365.

rs1490933136 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:1000706 (GRCh38)
19:1000705 (GRCh37)
Canonical SPDI:: NC_000019.10:1000705:G:T
Gene:: GRIN3B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.1000706G>T, NC_000019.9:g.1000705G>T, NM_138690.3:c.269G>T, NM_138690.2:c.269G>T, NM_138690.1:c.269G>T, NP_619635.1:p.Gly90Val

Select item 14909187216.

rs1490918721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1003582 (GRCh38)
19:1003581 (GRCh37)
Canonical SPDI:: NC_000019.10:1003581:C:T
Gene:: GRIN3B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1003582C>T, NC_000019.9:g.1003581C>T, NM_138690.3:c.879C>T, NM_138690.2:c.879C>T, NM_138690.1:c.879C>T

Select item 14908056657.

rs1490805665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1009359 (GRCh38)
19:1009358 (GRCh37)
Canonical SPDI:: NC_000019.10:1009358:G:A
Gene:: TMEM259 (Varview), GRIN3B (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000043/6 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000019.10:g.1009359G>A, NC_000019.9:g.1009358G>A, NM_138690.3:c.2889G>A, NM_138690.2:c.2889G>A, NM_138690.1:c.2889G>A

Select item 14903572608.

rs1490357260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:1002162 (GRCh38)
19:1002161 (GRCh37)
Canonical SPDI:: NC_000019.10:1002161:C:A
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1002162C>A, NC_000019.9:g.1002161C>A

Select item 14903154439.

rs1490315443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1009137 (GRCh38)
19:1009136 (GRCh37)
Canonical SPDI:: NC_000019.10:1009136:C:T
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000019.10:g.1009137C>T, NC_000019.9:g.1009136C>T

Select item 149019289110.

rs1490192891 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:1002386 (GRCh38)
19:1002385 (GRCh37)
Canonical SPDI:: NC_000019.10:1002385:G:A,NC_000019.10:1002385:G:T
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1002386G>A, NC_000019.10:g.1002386G>T, NC_000019.9:g.1002385G>A, NC_000019.9:g.1002385G>T

Select item 149017316611.

rs1490173166 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1004163 (GRCh38)
19:1004162 (GRCh37)
Canonical SPDI:: NC_000019.10:1004162:A:G
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1004163A>G, NC_000019.9:g.1004162A>G

Select item 149008973412.

rs1490089734 has merged into rs750343605 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GAGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 19:1008318 (GRCh38)
19:1008317 (GRCh37)
Canonical SPDI:: NC_000019.10:1008317:GGGGG:GGGG,NC_000019.10:1008317:GGGGG:GGGGGAGGGGGGGGGGGGG
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
GGGGGAGGGGGGGG=0.000874/1 (ExAC)
HGVS:: NC_000019.10:g.1008322del, NC_000019.10:g.1008318_1008322G[5]AGGGGGGGGGGGGG[1], NC_000019.9:g.1008321del, NC_000019.9:g.1008317_1008321G[5]AGGGGGGGGGGGGG[1]

Select item 148981826813.

rs1489818268 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGCACCTGGGCGAG [Show Flanks]
Chromosome:: 19:1007973 (GRCh38)
19:1007973 (GRCh37)
Canonical SPDI:: NC_000019.10:1007973:GAGAGGCACCTGGGCGAG:GAGAGGCACCTGGGCGAGAGGCACCTGGGCGAG
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAGAGGCACCTGGGCGAGAGGCACCTGGGCGAG=0.000071/1 (ALFA)
GAGAGGCACCTGGGC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1007977_1007991dup, NC_000019.9:g.1007976_1007990dup

Select item 148970809914.

rs1489708099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:999675 (GRCh38)
19:999674 (GRCh37)
Canonical SPDI:: NC_000019.10:999674:G:A
Gene:: GRIN3B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.999675G>A, NC_000019.9:g.999674G>A

Select item 148965713415.

rs1489657134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1008160 (GRCh38)
19:1008159 (GRCh37)
Canonical SPDI:: NC_000019.10:1008159:C:T
Gene:: GRIN3B (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
HGVS:: NC_000019.10:g.1008160C>T, NC_000019.9:g.1008159C>T, NM_138690.3:c.2335C>T, NM_138690.2:c.2335C>T, NM_138690.1:c.2335C>T, NP_619635.1:p.Gln779Ter

Select item 148948497316.

rs1489484973 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:998648 (GRCh38)
19:998647 (GRCh37)
Canonical SPDI:: NC_000019.10:998647:G:A
Gene:: GRIN3B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.998648G>A, NC_000019.9:g.998647G>A

Select item 148940212417.

rs1489402124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1005776 (GRCh38)
19:1005775 (GRCh37)
Canonical SPDI:: NC_000019.10:1005775:G:A
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.1005776G>A, NC_000019.9:g.1005775G>A

Select item 148894905818.

rs1488949058 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:1002131 (GRCh38)
19:1002130 (GRCh37)
Canonical SPDI:: NC_000019.10:1002130:C:A,NC_000019.10:1002130:C:G
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1002131C>A, NC_000019.10:g.1002131C>G, NC_000019.9:g.1002130C>A, NC_000019.9:g.1002130C>G

Select item 148862301619.

rs1488623016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:1007910 (GRCh38)
19:1007909 (GRCh37)
Canonical SPDI:: NC_000019.10:1007909:C:A,NC_000019.10:1007909:C:T
Gene:: GRIN3B (Varview)
Functional Consequence:: stop_gained,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.1007910C>A, NC_000019.10:g.1007910C>T, NC_000019.9:g.1007909C>A, NC_000019.9:g.1007909C>T, NM_138690.3:c.2253C>A, NM_138690.3:c.2253C>T, NM_138690.2:c.2253C>A, NM_138690.2:c.2253C>T, NM_138690.1:c.2253C>A, NM_138690.1:c.2253C>T, NP_619635.1:p.Tyr751Ter

Select item 148856934420.

rs1488569344 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1001423 (GRCh38)
19:1001422 (GRCh37)
Canonical SPDI:: NC_000019.10:1001422:C:T
Gene:: GRIN3B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1001423C>T, NC_000019.9:g.1001422C>T

<< First< Prev

Page of 220

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 4381

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity