SNP Links for Nucleotide (Select 223890208) - SNP

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Links from Nucleotide

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Select item 14914750661.

rs1491475066 has merged into rs978412923 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>-,GTGT [Show Flanks]
Chromosome:: 2:190059000 (GRCh38)
2:190923726 (GRCh37)
Canonical SPDI:: NC_000002.12:190058988:TGTGTGTGTGTGT:TGTGTGTGTGT,NC_000002.12:190058988:TGTGTGTGTGTGT:TGTGTGTGTGTGTGT
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
TG=0.00006/1 (TOMMO)
-=0.000348/92 (TOPMED)
HGVS:: NC_000002.12:g.190058990GT[5], NC_000002.12:g.190058990GT[7], NC_000002.11:g.190923716GT[5], NC_000002.11:g.190923716GT[7], NG_009800.1:g.8730CA[5], NG_009800.1:g.8730CA[7]

Select item 14909277852.

rs1490927785 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190053876 (GRCh38)
2:190918602 (GRCh37)
Canonical SPDI:: NC_000002.12:190053875:A:G
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190053876A>G, NC_000002.11:g.190918602A>G, NG_009800.1:g.13854T>C

Select item 14908764103.

rs1490876410 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:190056013 (GRCh38)
2:190920739 (GRCh37)
Canonical SPDI:: NC_000002.12:190056012:C:A
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190056013C>A, NC_000002.11:g.190920739C>A, NG_009800.1:g.11717G>T, NM_005259.3:c.*1245G>T, NM_005259.2:c.*1245G>T

Select item 14907223794.

rs1490722379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190058796 (GRCh38)
2:190923522 (GRCh37)
Canonical SPDI:: NC_000002.12:190058795:T:C
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000042/11 (TOPMED)
HGVS:: NC_000002.12:g.190058796T>C, NC_000002.11:g.190923522T>C, NG_009800.1:g.8934A>G

Select item 14901250455.

rs1490125045 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:190060316 (GRCh38)
2:190925042 (GRCh37)
Canonical SPDI:: NC_000002.12:190060315:T:C
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190060316T>C, NC_000002.11:g.190925042T>C, NG_009800.1:g.7414A>G, NM_005259.3:c.493A>G, NM_005259.2:c.493A>G, NP_005250.1:p.Thr165Ala

Select item 14900054236.

rs1490005423 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAAGAATAGAAGCCATTAAGA [Show Flanks]
Chromosome:: 2:190062619 (GRCh38)
2:190927346 (GRCh37)
Canonical SPDI:: NC_000002.12:190062619::CAAGAATAGAAGCCATTAAGA
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,5_prime_UTR_variant
HGVS:: NC_000002.12:g.190062619_190062620insCAAGAATAGAAGCCATTAAGA, NC_000002.11:g.190927345_190927346insCAAGAATAGAAGCCATTAAGA, NG_009800.1:g.5110_5111insTCTTAATGGCTTCTATTCTTG, NM_005259.3:c.-24_-23insTCTTAATGGCTTCTATTCTTG, NM_005259.2:c.-24_-23insTCTTAATGGCTTCTATTCTTG

Select item 14899703297.

rs1489970329 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190060251 (GRCh38)
2:190924977 (GRCh37)
Canonical SPDI:: NC_000002.12:190060250:A:G
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190060251A>G, NC_000002.11:g.190924977A>G, NG_009800.1:g.7479T>C, NM_005259.3:c.558T>C, NM_005259.2:c.558T>C

Select item 14896181348.

rs1489618134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190057507 (GRCh38)
2:190922233 (GRCh37)
Canonical SPDI:: NC_000002.12:190057506:A:G
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.190057507A>G, NC_000002.11:g.190922233A>G, NG_009800.1:g.10223T>C, NM_005259.3:c.879T>C, NM_005259.2:c.879T>C

Select item 14894636449.

rs1489463644 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:190056589 (GRCh38)
2:190921315 (GRCh37)
Canonical SPDI:: NC_000002.12:190056588:G:C
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190056589G>C, NC_000002.11:g.190921315G>C, NG_009800.1:g.11141C>G, NM_005259.3:c.*669C>G, NM_005259.2:c.*669C>G

Select item 148910140610.

rs1489101406 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 2:190066246 (GRCh38)
2:190930972 (GRCh37)
Canonical SPDI:: NC_000002.12:190066240:CTCTCTC:CTCTC
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCTC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000002.12:g.190066242TC[2], NC_000002.11:g.190930968TC[2], NG_009800.1:g.1484AG[2]

Select item 148904975611.

rs1489049756 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190065062 (GRCh38)
2:190929788 (GRCh37)
Canonical SPDI:: NC_000002.12:190065061:T:G
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190065062T>G, NC_000002.11:g.190929788T>G, NG_009800.1:g.2668A>C

Select item 148869348412.

rs1488693484 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:190053914 (GRCh38)
2:190918640 (GRCh37)
Canonical SPDI:: NC_000002.12:190053913:T:G
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.190053914T>G, NC_000002.11:g.190918640T>G, NG_009800.1:g.13816A>C

Select item 148844469913.

rs1488444699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:190067201 (GRCh38)
2:190931927 (GRCh37)
Canonical SPDI:: NC_000002.12:190067200:C:T
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.190067201C>T, NC_000002.11:g.190931927C>T, NG_009800.1:g.529G>A

Select item 148831386614.

rs1488313866 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190055470 (GRCh38)
2:190920196 (GRCh37)
Canonical SPDI:: NC_000002.12:190055469:A:G
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.190055470A>G, NC_000002.11:g.190920196A>G, NG_009800.1:g.12260T>C

Select item 148805323515.

rs1488053235 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190058346 (GRCh38)
2:190923072 (GRCh37)
Canonical SPDI:: NC_000002.12:190058345:A:G
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.190058346A>G, NC_000002.11:g.190923072A>G, NG_009800.1:g.9384T>C

Select item 148759677216.

rs1487596772 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190059130 (GRCh38)
2:190923856 (GRCh37)
Canonical SPDI:: NC_000002.12:190059129:A:G
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.190059130A>G, NC_000002.11:g.190923856A>G, NG_009800.1:g.8600T>C

Select item 148750716517.

rs1487507165 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:190058873 (GRCh38)
2:190923599 (GRCh37)
Canonical SPDI:: NC_000002.12:190058872:G:A
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.190058873G>A, NC_000002.11:g.190923599G>A, NG_009800.1:g.8857C>T

Select item 148703627118.

rs1487036271 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:190057953 (GRCh38)
2:190922679 (GRCh37)
Canonical SPDI:: NC_000002.12:190057952:G:C
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.190057953G>C, NC_000002.11:g.190922679G>C, NG_009800.1:g.9777C>G

Select item 148636950119.

rs1486369501 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:190054327 (GRCh38)
2:190919053 (GRCh37)
Canonical SPDI:: NC_000002.12:190054326:A:G
Gene:: C2orf88 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_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_000002.12:g.190054327A>G, NC_000002.11:g.190919053A>G, NG_009800.1:g.13403T>C

Select item 148616709020.

rs1486167090 has merged into rs1055513429 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA [Show Flanks]
Chromosome:: 2:190059025 (GRCh38)
2:190923751 (GRCh37)
Canonical SPDI:: NC_000002.12:190059019:ATATATATA:ATATA,NC_000002.12:190059019:ATATATATA:ATATATA,NC_000002.12:190059019:ATATATATA:ATATATATATA
Gene:: MSTN (Varview), C2orf88 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.190059021TA[2], NC_000002.12:g.190059021TA[3], NC_000002.12:g.190059021TA[5], NC_000002.11:g.190923747TA[2], NC_000002.11:g.190923747TA[3], NC_000002.11:g.190923747TA[5], NG_009800.1:g.8703AT[2], NG_009800.1:g.8703AT[3], NG_009800.1:g.8703AT[5]

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