SNP Links for Gene (Select 64965) - SNP

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Select item 14915887681.

rs1491588768 has merged into rs1240341517 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 2:105097225 (GRCh38)
2:105713683 (GRCh37)
Canonical SPDI:: NC_000002.12:105097224:GGGGG:GGGG,NC_000002.12:105097224:GGGGG:GGGGGG
Gene:: MRPS9 (Varview), MRPS9-AS1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.105097229del, NC_000002.12:g.105097229dup, NC_000002.11:g.105713687del, NC_000002.11:g.105713687dup, NM_182640.3:c.1004del, NM_182640.3:c.1004dup, NM_182640.2:c.1004del, NM_182640.2:c.1004dup, XM_011511644.3:c.632del, XM_011511644.3:c.632dup, XM_011511644.2:c.632del, XM_011511644.2:c.632dup, XM_011511644.1:c.632del, XM_011511644.1:c.632dup, NR_110227.1:n.400del, NR_110227.1:n.400dup, NP_872578.1:p.Gly335fs, NP_872578.1:p.Gly336fs, XP_011509946.1:p.Gly211fs, XP_011509946.1:p.Gly212fs

Select item 14915069272.

rs1491506927 has merged into rs751155585 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:105061121 (GRCh38)
2:105677579 (GRCh37)
Canonical SPDI:: NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:105061109:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.105061121_105061136del, NC_000002.12:g.105061123_105061136del, NC_000002.12:g.105061124_105061136del, NC_000002.12:g.105061125_105061136del, NC_000002.12:g.105061126_105061136del, NC_000002.12:g.105061127_105061136del, NC_000002.12:g.105061128_105061136del, NC_000002.12:g.105061129_105061136del, NC_000002.12:g.105061130_105061136del, NC_000002.12:g.105061131_105061136del, NC_000002.12:g.105061132_105061136del, NC_000002.12:g.105061133_105061136del, NC_000002.12:g.105061134_105061136del, NC_000002.12:g.105061135_105061136del, NC_000002.12:g.105061136del, NC_000002.12:g.105061136dup, NC_000002.12:g.105061135_105061136dup, NC_000002.12:g.105061134_105061136dup, NC_000002.12:g.105061133_105061136dup, NC_000002.12:g.105061132_105061136dup, NC_000002.12:g.105061131_105061136dup, NC_000002.12:g.105061130_105061136dup, NC_000002.12:g.105061129_105061136dup, NC_000002.12:g.105061128_105061136dup, NC_000002.12:g.105061127_105061136dup, NC_000002.12:g.105061126_105061136dup, NC_000002.12:g.105061125_105061136dup, NC_000002.11:g.105677579_105677594del, NC_000002.11:g.105677581_105677594del, NC_000002.11:g.105677582_105677594del, NC_000002.11:g.105677583_105677594del, NC_000002.11:g.105677584_105677594del, NC_000002.11:g.105677585_105677594del, NC_000002.11:g.105677586_105677594del, NC_000002.11:g.105677587_105677594del, NC_000002.11:g.105677588_105677594del, NC_000002.11:g.105677589_105677594del, NC_000002.11:g.105677590_105677594del, NC_000002.11:g.105677591_105677594del, NC_000002.11:g.105677592_105677594del, NC_000002.11:g.105677593_105677594del, NC_000002.11:g.105677594del, NC_000002.11:g.105677594dup, NC_000002.11:g.105677593_105677594dup, NC_000002.11:g.105677592_105677594dup, NC_000002.11:g.105677591_105677594dup, NC_000002.11:g.105677590_105677594dup, NC_000002.11:g.105677589_105677594dup, NC_000002.11:g.105677588_105677594dup, NC_000002.11:g.105677587_105677594dup, NC_000002.11:g.105677586_105677594dup, NC_000002.11:g.105677585_105677594dup, NC_000002.11:g.105677584_105677594dup, NC_000002.11:g.105677583_105677594dup

Select item 14914164973.

rs1491416497 has merged into rs398090525 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 2:105061342 (GRCh38)
2:105677800 (GRCh37)
Canonical SPDI:: NC_000002.12:105061339:TGTG:TG,NC_000002.12:105061339:TGTG:TGTGTG
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.105061340TG[1], NC_000002.12:g.105061340TG[3], NC_000002.11:g.105677798TG[1], NC_000002.11:g.105677798TG[3]

Select item 14913674684.

rs1491367468 has merged into rs1356074029 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 2:105084247 (GRCh38)
2:105700705 (GRCh37)
Canonical SPDI:: NC_000002.12:105084244:AAAA:AA,NC_000002.12:105084244:AAAA:AAAAAA,NC_000002.12:105084244:AAAA:AAAAAAAAAAAA
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.105084247_105084248del, NC_000002.12:g.105084247_105084248dup, NC_000002.12:g.105084248_105084249insAAAAAAAA, NC_000002.11:g.105700705_105700706del, NC_000002.11:g.105700705_105700706dup, NC_000002.11:g.105700706_105700707insAAAAAAAA

Select item 14913493685.

rs1491349368 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:105056190 (GRCh38)
2:105672648 (GRCh37)
Canonical SPDI:: NC_000002.12:105056188:TCT:T
Gene:: MRPS9 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.0418/155 (TWINSUK)
HGVS:: NC_000002.12:g.105056190_105056191del, NC_000002.11:g.105672648_105672649del

Select item 14912886546.

rs1491288654 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATA,TATATA,TATATATA,TATATATATATATA,TATATATATATATATATATA [Show Flanks]
Chromosome:: 2:105084245 (GRCh38)
2:105700704 (GRCh37)
Canonical SPDI:: NC_000002.12:105084245:A:ATA,NC_000002.12:105084245:A:ATATA,NC_000002.12:105084245:A:ATATATA,NC_000002.12:105084245:A:ATATATATA,NC_000002.12:105084245:A:ATATATATATATATA,NC_000002.12:105084245:A:ATATATATATATATATATATA
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.105084246_105084247insTA, NC_000002.12:g.105084246_105084247insTATA, NC_000002.12:g.105084247TA[3], NC_000002.12:g.105084247TA[4], NC_000002.12:g.105084247TA[7], NC_000002.12:g.105084247TA[10], NC_000002.11:g.105700704_105700705insTA, NC_000002.11:g.105700704_105700705insTATA, NC_000002.11:g.105700705TA[3], NC_000002.11:g.105700705TA[4], NC_000002.11:g.105700705TA[7], NC_000002.11:g.105700705TA[10]

Select item 14912869987.

rs1491286998 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:105078315 (GRCh38)
2:105694773 (GRCh37)
Canonical SPDI:: NC_000002.12:105078314:AG:
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00002/1 (GnomAD)
HGVS:: NC_000002.12:g.105078315_105078316del, NC_000002.11:g.105694773_105694774del

Select item 14912141728.

rs1491214172 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:105061109 (GRCh38)
2:105677567 (GRCh37)
Canonical SPDI:: NC_000002.12:105061108:CA:
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00084/10 (ALFA)
HGVS:: NC_000002.12:g.105061109_105061110del, NC_000002.11:g.105677567_105677568del

Select item 14912013539.

rs1491201353 [Homo sapiens]

Variant type:: INS
Alleles:: ->AGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:105078316 (GRCh38)
2:105694775 (GRCh37)
Canonical SPDI:: NC_000002.12:105078316::AGTGTGTGTGTGT
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000002.12:g.105078316_105078317insAGTGTGTGTGTGT, NC_000002.11:g.105694774_105694775insAGTGTGTGTGTGT

Select item 149111298310.

rs1491112983 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:105080923 (GRCh38)
2:105697381 (GRCh37)
Canonical SPDI:: NC_000002.12:105080921:ACA:A
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00093/11 (ALFA)
-=0.0003/27 (GnomAD)
HGVS:: NC_000002.12:g.105080923_105080924del, NC_000002.11:g.105697381_105697382del, NG_053418.1:g.271_272del

Select item 149108851011.

rs1491088510 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATATATATATATATATGT [Show Flanks]
Chromosome:: 2:105084268 (GRCh38)
2:105700727 (GRCh37)
Canonical SPDI:: NC_000002.12:105084268:T:TATATATATATATATATATATATGT
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TATATATATATATATATATATATG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.105084269TA[11]TGT[1], NC_000002.11:g.105700727TA[11]TGT[1]

Select item 149107176312.

rs1491071763 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:105074205 (GRCh38)
2:105690664 (GRCh37)
Canonical SPDI:: NC_000002.12:105074205::A
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000002.12:g.105074205_105074206insA, NC_000002.11:g.105690663_105690664insA

Select item 149100021313.

rs1491000213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:105094789 (GRCh38)
2:105711247 (GRCh37)
Canonical SPDI:: NC_000002.12:105094788:A:C,NC_000002.12:105094788:A:G
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.105094789A>C, NC_000002.12:g.105094789A>G, NC_000002.11:g.105711247A>C, NC_000002.11:g.105711247A>G

Select item 149097072814.

rs1490970728 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:105092515 (GRCh38)
2:105708973 (GRCh37)
Canonical SPDI:: NC_000002.12:105092514:C:G
Gene:: MRPS9 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.105092515C>G, NC_000002.11:g.105708973C>G, NM_182640.3:c.766C>G, NM_182640.2:c.766C>G, XM_011511644.3:c.394C>G, XM_011511644.2:c.394C>G, XM_011511644.1:c.394C>G, NP_872578.1:p.Leu256Val, XP_011509946.1:p.Leu132Val

Select item 149083760515.

rs1490837605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:105078168 (GRCh38)
2:105694626 (GRCh37)
Canonical SPDI:: NC_000002.12:105078167:A:C,NC_000002.12:105078167:A:T
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000011/1 (GnomAD)
HGVS:: NC_000002.12:g.105078168A>C, NC_000002.12:g.105078168A>T, NC_000002.11:g.105694626A>C, NC_000002.11:g.105694626A>T

Select item 149083013816.

rs1490830138 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 2:105069457 (GRCh38)
2:105685915 (GRCh37)
Canonical SPDI:: NC_000002.12:105069456:CCC:CC
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000002.12:g.105069459del, NC_000002.11:g.105685917del

Select item 149079114817.

rs1490791148 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:105053372 (GRCh38)
2:105669830 (GRCh37)
Canonical SPDI:: NC_000002.12:105053371:C:T
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000002.12:g.105053372C>T, NC_000002.11:g.105669830C>T

Select item 149077982118.

rs1490779821 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:105080684 (GRCh38)
2:105697142 (GRCh37)
Canonical SPDI:: NC_000002.12:105080683:T:A
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000002.12:g.105080684T>A, NC_000002.11:g.105697142T>A, NG_053418.1:g.32T>A

Select item 149067919419.

rs1490679194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 2:105086985 (GRCh38)
2:105703443 (GRCh37)
Canonical SPDI:: NC_000002.12:105086984:A:G,NC_000002.12:105086984:A:T
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.105086985A>G, NC_000002.12:g.105086985A>T, NC_000002.11:g.105703443A>G, NC_000002.11:g.105703443A>T

Select item 149064414120.

rs1490644141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:105061359 (GRCh38)
2:105677817 (GRCh37)
Canonical SPDI:: NC_000002.12:105061358:C:T
Gene:: MRPS9 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.105061359C>T, NC_000002.11:g.105677817C>T

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