SNP Links for Nucleotide (Select 116235463) - SNP

Links from Nucleotide

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Select item 14915395721.

rs1491539572 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:11091472 (GRCh38)
12:11244072 (GRCh37)
Canonical SPDI:: NC_000012.12:11091472::T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000012.12:g.11091472_11091473insT, NC_000012.11:g.11244071_11244072insT, NT_187658.1:g.292030dup, NW_003571047.1:g.292042dup, NW_003571050.1:g.290199_290200insT, NM_176884.2:c.757_758insA, NM_176886.2:c.758dup, NP_795365.2:p.Gly253fs

Select item 14905768822.

rs1490576882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:11091491 (GRCh38)
12:11244090 (GRCh37)
Canonical SPDI:: NC_000012.12:11091490:T:A
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/1 (GnomAD)
HGVS:: NC_000012.12:g.11091491T>A, NC_000012.11:g.11244090T>A, NT_187658.1:g.292048T>A, NW_003571047.1:g.292060T>A, NW_003571050.1:g.290218T>A, NM_176884.2:c.739A>T, NM_176886.2:c.739A>T, NP_795365.2:p.Ile247Leu

Select item 14898334763.

rs1489833476 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 12:11091782 (GRCh38)
12:11244381 (GRCh37)
Canonical SPDI:: NC_000012.12:11091781:T:A
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000017/2 (GnomAD)
HGVS:: NC_000012.12:g.11091782T>A, NC_000012.11:g.11244381T>A, NT_187658.1:g.292339T>A, NW_003571047.1:g.292351T>A, NW_003571050.1:g.290509T>A, NM_176884.2:c.448A>T, NM_176886.2:c.448A>T, NP_795365.2:p.Asn150Tyr

Select item 14892623684.

rs1489262368 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11091778 (GRCh38)
12:11244377 (GRCh37)
Canonical SPDI:: NC_000012.12:11091777:T:C
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.11091778T>C, NC_000012.11:g.11244377T>C, NT_187658.1:g.292335T>C, NW_003571047.1:g.292347T>C, NW_003571050.1:g.290505T>C, NM_176884.2:c.452A>G, NM_176886.2:c.452A>G, NP_795365.2:p.Glu151Gly

Select item 14890834445.

rs1489083444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11091747 (GRCh38)
12:11244346 (GRCh37)
Canonical SPDI:: NC_000012.12:11091746:G:A
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.11091747G>A, NC_000012.11:g.11244346G>A, NT_187658.1:g.292304G>A, NW_003571047.1:g.292316G>A, NW_003571050.1:g.290474G>A, NM_176884.2:c.483C>T, NM_176886.2:c.483C>T

Select item 14881058856.

rs1488105885 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 12:11091517 (GRCh38)
12:11244116 (GRCh37)
Canonical SPDI:: NC_000012.12:11091516:C:A,NC_000012.12:11091516:C:T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11091517C>A, NC_000012.12:g.11091517C>T, NC_000012.11:g.11244116C>A, NC_000012.11:g.11244116C>T, NT_187658.1:g.292074C>A, NT_187658.1:g.292074C>T, NW_003571047.1:g.292086C>A, NW_003571047.1:g.292086C>T, NW_003571050.1:g.290244C>A, NW_003571050.1:g.290244C>T, NM_176884.2:c.713G>T, NM_176884.2:c.713G>A, NM_176886.2:c.713G>T, NM_176886.2:c.713G>A, NP_795365.2:p.Cys238Phe, NP_795365.2:p.Cys238Tyr

Select item 14865533417.

rs1486553341 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:11091922 (GRCh38)
12:11244522 (GRCh37)
Canonical SPDI:: NC_000012.12:11091922:T:TT
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: T=0.000038/4 (GnomAD)
HGVS:: NC_000012.12:g.11091923dup, NC_000012.11:g.11244522dup, NT_187658.1:g.292480dup, NW_003571047.1:g.292492dup, NW_003571050.1:g.290650dup, NM_176884.2:c.307dup, NM_176886.2:c.307dup, NP_795365.2:p.Ser103fs

Select item 14808808988.

rs1480880898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11091528 (GRCh38)
12:11244127 (GRCh37)
Canonical SPDI:: NC_000012.12:11091527:G:A
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.11091528G>A, NC_000012.11:g.11244127G>A, NT_187658.1:g.292085G>A, NW_003571047.1:g.292097G>A, NW_003571050.1:g.290255G>A, NM_176884.2:c.702C>T, NM_176886.2:c.702C>T

Select item 14786684359.

rs1478668435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:11092069 (GRCh38)
12:11244668 (GRCh37)
Canonical SPDI:: NC_000012.12:11092068:G:A,NC_000012.12:11092068:G:C
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11092069G>A, NC_000012.12:g.11092069G>C, NC_000012.11:g.11244668G>A, NC_000012.11:g.11244668G>C, NT_187658.1:g.292626G>A, NT_187658.1:g.292626G>C, NW_003571047.1:g.292638G>A, NW_003571047.1:g.292638G>C, NW_003571050.1:g.290796G>A, NW_003571050.1:g.290796G>C, NM_176884.2:c.161C>T, NM_176884.2:c.161C>G, NM_176886.2:c.161C>T, NM_176886.2:c.161C>G, NP_795365.2:p.Ser54Phe, NP_795365.2:p.Ser54Cys

Select item 147856314210.

rs1478563142 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11091701 (GRCh38)
12:11244300 (GRCh37)
Canonical SPDI:: NC_000012.12:11091700:T:C
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,genic_upstream_transcript_variant
HGVS:: NC_000012.12:g.11091701T>C, NC_000012.11:g.11244300T>C, NT_187658.1:g.292258T>C, NW_003571047.1:g.292270T>C, NW_003571050.1:g.290428T>C, NM_176884.2:c.529A>G, NM_176886.2:c.529A>G, NP_795365.2:p.Met177Val

Select item 147522417811.

rs1475224178 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATAAAATAAACAA [Show Flanks]
Chromosome:: 12:11091934 (GRCh38)
12:11244534 (GRCh37)
Canonical SPDI:: NC_000012.12:11091934:CAA:CAAATAAAATAAACAA
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,genic_upstream_transcript_variant,frameshift_variant
HGVS:: NC_000012.12:g.11091937_11091938insATAAAATAAACAA, NC_000012.11:g.11244536_11244537insATAAAATAAACAA, NT_187658.1:g.292494G>A, NT_187658.1:g.292494delinsAATAAAATAAACAA, NW_003571047.1:g.292506G>A, NW_003571047.1:g.292506delinsAATAAAATAAACAA, NW_003571050.1:g.290664_290665insATAAAATAAACAA, NM_176884.2:c.295_296insTTTATTTTATTTG, NM_176886.2:c.293C>T, NM_176886.2:c.293delinsTTGTTTATTTTATT, NP_795365.2:p.Ala99fs

Select item 147369798912.

rs1473697989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:11091405 (GRCh38)
12:11244004 (GRCh37)
Canonical SPDI:: NC_000012.12:11091404:G:A
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11091405G>A, NC_000012.11:g.11244004G>A, NT_187658.1:g.291962G>A, NW_003571047.1:g.291974G>A, NW_003571050.1:g.290132G>A, NM_176884.2:c.825C>T, NM_176886.2:c.825C>T

Select item 147143170913.

rs1471431709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11092218 (GRCh38)
12:11244817 (GRCh37)
Canonical SPDI:: NC_000012.12:11092217:A:G
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.11092218A>G, NC_000012.11:g.11244817A>G, NT_187658.1:g.292775A>G, NW_003571047.1:g.292787A>G, NW_003571050.1:g.290945A>G, NM_176884.2:c.12T>C, NM_176886.2:c.12T>C

Select item 147118469714.

rs1471184697 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11091861 (GRCh38)
12:11244460 (GRCh37)
Canonical SPDI:: NC_000012.12:11091860:C:T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.11091861C>T, NC_000012.11:g.11244460C>T, NT_187658.1:g.292418C>T, NW_003571047.1:g.292430C>T, NW_003571050.1:g.290588C>T, NM_176884.2:c.369G>A, NM_176886.2:c.369G>A

Select item 146790612815.

rs1467906128 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:11091876 (GRCh38)
12:11244475 (GRCh37)
Canonical SPDI:: NC_000012.12:11091875:A:G
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11091876A>G, NC_000012.11:g.11244475A>G, NT_187658.1:g.292433A>G, NW_003571047.1:g.292445A>G, NW_003571050.1:g.290603A>G, NM_176884.2:c.354T>C, NM_176886.2:c.354T>C

Select item 146057590716.

rs1460575907 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:11092284 (GRCh38)
12:11244883 (GRCh37)
Canonical SPDI:: NC_000012.12:11092283:T:C
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000012.12:g.11092284T>C, NC_000012.11:g.11244883T>C, NT_187658.1:g.292841T>C, NW_003571047.1:g.292853T>C, NW_003571050.1:g.291011T>C, NM_176884.2:c.-55A>G

Select item 146043854217.

rs1460438542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:11091714 (GRCh38)
12:11244313 (GRCh37)
Canonical SPDI:: NC_000012.12:11091713:C:T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11091714C>T, NC_000012.11:g.11244313C>T, NT_187658.1:g.292271C>T, NW_003571047.1:g.292283C>T, NW_003571050.1:g.290441C>T, NM_176884.2:c.516G>A, NM_176886.2:c.516G>A, NP_795365.2:p.Met172Ile

Select item 146020302118.

rs1460203021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:11091891 (GRCh38)
12:11244490 (GRCh37)
Canonical SPDI:: NC_000012.12:11091890:G:T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.11091891G>T, NC_000012.11:g.11244490G>T, NT_187658.1:g.292448G>T, NW_003571047.1:g.292460G>T, NW_003571050.1:g.290618G>T, NM_176884.2:c.339C>A, NM_176886.2:c.339C>A, NP_795365.2:p.Phe113Leu

Select item 145668272719.

rs1456682727 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:11092228 (GRCh38)
12:11244827 (GRCh37)
Canonical SPDI:: NC_000012.12:11092227:A:T
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,initiator_codon_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11092228A>T, NC_000012.11:g.11244827A>T, NT_187658.1:g.292785A>T, NW_003571047.1:g.292797A>T, NW_003571050.1:g.290955A>T, NM_176884.2:c.2T>A, NM_176886.2:c.2T>A, NP_795365.2:p.Met1Lys

Select item 145553464220.

rs1455534642 [Homo sapiens]

Variant type:: DELINS
Alleles:: CATATTTGAAAAGT>- [Show Flanks]
Chromosome:: 12:11091699 (GRCh38)
12:11244298 (GRCh37)
Canonical SPDI:: NC_000012.12:11091695:AGTCATATTTGAAAAGT:AGT
Gene:: PRH1 (Varview), TAS2R43 (Varview), PRH1-PRR4 (Varview), PRH1-TAS2R14 (Varview)
Functional Consequence:: intron_variant,frameshift_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGT=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.11091699_11091712del, NC_000012.11:g.11244298_11244311del, NT_187658.1:g.292257_292267delinsATATTTGAAAA, NT_187658.1:g.292256_292269del, NW_003571047.1:g.292269_292279delinsATATTTGAAAA, NW_003571047.1:g.292268_292281del, NW_003571050.1:g.290426_290439del, NM_176884.2:c.521_534del, NM_176886.2:c.520_530delinsTTTTCAAATAT, NM_176886.2:c.520_533del, NP_795365.2:p.Phe174fs

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