SNP Links for Nucleotide (Select 53828702) - SNP

Links from Nucleotide

Items: 1 to 20 of 768

<< First< Prev

Page of 39

Next >Last >>

Select item 14899356111.

rs1489935611 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43297361 (GRCh38)
8:43152504 (GRCh37)
Canonical SPDI:: NC_000008.11:43297360:T:C
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43297361T>C, NC_000008.10:g.43152504T>C, NM_001005365.2:c.490T>C, XM_024447146.1:c.490T>C, NM_001002920.1:c.490T>C, XM_047421756.1:c.490T>C, NP_001005365.2:p.Tyr164His, XP_024302914.1:p.Tyr164His, NP_001002920.1:p.Tyr164His, XP_047277712.1:p.Tyr164His

Select item 14899207882.

rs1489920788 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 8:43302054 (GRCh38)
8:43157197 (GRCh37)
Canonical SPDI:: NC_000008.11:43302053:T:
Gene:: POTEA (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43302054del, NC_000008.10:g.43157197del, NM_001005365.2:c.777del, XM_024447146.1:c.777del, XM_047421756.1:c.777del, NP_001005365.2:p.Gln260fs, XP_024302914.1:p.Gln260fs, XP_047277712.1:p.Gln260fs

Select item 14894223793.

rs1489422379 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43342289 (GRCh38)
8:43197432 (GRCh37)
Canonical SPDI:: NC_000008.11:43342288:T:C
Gene:: POTEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43342289T>C, NC_000008.10:g.43197432T>C, NM_001005365.2:c.1321T>C, NM_001002920.1:c.1183T>C, NP_001005365.2:p.Phe441Leu, NP_001002920.1:p.Phe395Leu

Select item 14889112134.

rs1488911213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:43356970 (GRCh38)
8:43212113 (GRCh37)
Canonical SPDI:: NC_000008.11:43356969:G:A
Gene:: POTEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.43356970G>A, NC_000008.10:g.43212113G>A, NM_001005365.2:c.*75G>A, NM_001002920.1:c.*75G>A

Select item 14884722505.

rs1488472250 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43363173 (GRCh38)
8:43218316 (GRCh37)
Canonical SPDI:: NC_000008.11:43363172:T:C
Gene:: POTEA (Varview)
Functional Consequence:: genic_downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.43363173T>C, NC_000008.10:g.43218316T>C, NM_001005365.2:c.*424T>C, XM_024447146.1:c.1534T>C, NM_001002920.1:c.*424T>C, XP_024302914.1:p.Tyr512His

Select item 14856822436.

rs1485682243 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43292445 (GRCh38)
8:43147588 (GRCh37)
Canonical SPDI:: NC_000008.11:43292444:A:G
Gene:: POTEA (Varview)
Functional Consequence:: 5_prime_UTR_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_000008.11:g.43292445A>G, NC_000008.10:g.43147588A>G, NM_001005365.2:c.-40A>G, XM_024447146.1:c.-40A>G, NM_001002920.1:c.-40A>G, XM_047421756.1:c.-40A>G

Select item 14856695217.

rs1485669521 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 8:43300537 (GRCh38)
8:43155680 (GRCh37)
Canonical SPDI:: NC_000008.11:43300536:T:A
Gene:: POTEA (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000008.11:g.43300537T>A, NC_000008.10:g.43155680T>A, NM_001005365.2:c.608T>A, XM_024447146.1:c.608T>A, NM_001002920.1:c.608T>A, XM_047421756.1:c.608T>A, NP_001005365.2:p.Leu203Ter, XP_024302914.1:p.Leu203Ter, NP_001002920.1:p.Leu203Ter, XP_047277712.1:p.Leu203Ter

Select item 14856491888.

rs1485649188 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43302105 (GRCh38)
8:43157248 (GRCh37)
Canonical SPDI:: NC_000008.11:43302104:T:C
Gene:: POTEA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43302105T>C, NC_000008.10:g.43157248T>C, NM_001005365.2:c.828T>C, XM_024447146.1:c.828T>C, XM_047421756.1:c.828T>C

Select item 14841777749.

rs1484177774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43342306 (GRCh38)
8:43197449 (GRCh37)
Canonical SPDI:: NC_000008.11:43342305:A:G
Gene:: POTEA (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.43342306A>G, NC_000008.10:g.43197449A>G, NM_001005365.2:c.1338A>G, NM_001002920.1:c.1200A>G

Select item 148384532210.

rs1483845322 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 8:43300584 (GRCh38)
8:43155727 (GRCh37)
Canonical SPDI:: NC_000008.11:43300583:A:T
Gene:: POTEA (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43300584A>T, NC_000008.10:g.43155727A>T, NM_001005365.2:c.655A>T, XM_024447146.1:c.655A>T, NM_001002920.1:c.655A>T, XM_047421756.1:c.655A>T, NP_001005365.2:p.Lys219Ter, XP_024302914.1:p.Lys219Ter, NP_001002920.1:p.Lys219Ter, XP_047277712.1:p.Lys219Ter

Select item 148348945611.

rs1483489456 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43292628 (GRCh38)
8:43147771 (GRCh37)
Canonical SPDI:: NC_000008.11:43292627:C:A,NC_000008.11:43292627:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000008.11:g.43292628C>A, NC_000008.11:g.43292628C>T, NC_000008.10:g.43147771C>A, NC_000008.10:g.43147771C>T, NM_001005365.2:c.144C>A, NM_001005365.2:c.144C>T, XM_024447146.1:c.144C>A, XM_024447146.1:c.144C>T, NM_001002920.1:c.144C>A, NM_001002920.1:c.144C>T, XM_047421756.1:c.144C>A, XM_047421756.1:c.144C>T, NP_001005365.2:p.Asp48Glu, XP_024302914.1:p.Asp48Glu, NP_001002920.1:p.Asp48Glu, XP_047277712.1:p.Asp48Glu

Select item 148283295212.

rs1482832952 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:43297317 (GRCh38)
8:43152460 (GRCh37)
Canonical SPDI:: NC_000008.11:43297316:T:C
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.43297317T>C, NC_000008.10:g.43152460T>C, NM_001005365.2:c.446T>C, XM_024447146.1:c.446T>C, NM_001002920.1:c.446T>C, XM_047421756.1:c.446T>C, NP_001005365.2:p.Leu149Ser, XP_024302914.1:p.Leu149Ser, NP_001002920.1:p.Leu149Ser, XP_047277712.1:p.Leu149Ser

Select item 148184940013.

rs1481849400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:43361144 (GRCh38)
8:43216287 (GRCh37)
Canonical SPDI:: NC_000008.11:43361143:C:A
Gene:: POTEA (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.43361144C>A, NC_000008.10:g.43216287C>A, NM_001005365.2:c.*179C>A, XM_024447146.1:c.1289C>A, NM_001002920.1:c.*179C>A, XP_024302914.1:p.Ala430Asp

Select item 148078249414.

rs1480782494 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43302090 (GRCh38)
8:43157233 (GRCh37)
Canonical SPDI:: NC_000008.11:43302089:A:G
Gene:: POTEA (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000106/2 (TOMMO)
HGVS:: NC_000008.11:g.43302090A>G, NC_000008.10:g.43157233A>G, NM_001005365.2:c.813A>G, XM_024447146.1:c.813A>G, XM_047421756.1:c.813A>G

Select item 147748804715.

rs1477488047 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43297441 (GRCh38)
8:43152584 (GRCh37)
Canonical SPDI:: NC_000008.11:43297440:C:A,NC_000008.11:43297440:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000008.11:g.43297441C>A, NC_000008.11:g.43297441C>T, NC_000008.10:g.43152584C>A, NC_000008.10:g.43152584C>T, NM_001005365.2:c.570C>A, NM_001005365.2:c.570C>T, XM_024447146.1:c.570C>A, XM_024447146.1:c.570C>T, NM_001002920.1:c.570C>A, NM_001002920.1:c.570C>T, XM_047421756.1:c.570C>A, XM_047421756.1:c.570C>T, NP_001005365.2:p.Asp190Glu, XP_024302914.1:p.Asp190Glu, NP_001002920.1:p.Asp190Glu, XP_047277712.1:p.Asp190Glu

Select item 147673077016.

rs1476730770 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:43363051 (GRCh38)
8:43218194 (GRCh37)
Canonical SPDI:: NC_000008.11:43363050:A:G
Gene:: POTEA (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_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_000008.11:g.43363051A>G, NC_000008.10:g.43218194A>G, NM_001005365.2:c.*302A>G, XM_024447146.1:c.1412A>G, NM_001002920.1:c.*302A>G, XP_024302914.1:p.His471Arg

Select item 147647246217.

rs1476472462 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:43292521 (GRCh38)
8:43147664 (GRCh37)
Canonical SPDI:: NC_000008.11:43292520:C:G
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.43292521C>G, NC_000008.10:g.43147664C>G, NM_001005365.2:c.37C>G, XM_024447146.1:c.37C>G, NM_001002920.1:c.37C>G, XM_047421756.1:c.37C>G, NP_001005365.2:p.Pro13Ala, XP_024302914.1:p.Pro13Ala, NP_001002920.1:p.Pro13Ala, XP_047277712.1:p.Pro13Ala

Select item 147461135918.

rs1474611359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:43361135 (GRCh38)
8:43216278 (GRCh37)
Canonical SPDI:: NC_000008.11:43361134:T:C,NC_000008.11:43361134:T:G
Gene:: POTEA (Varview)
Functional Consequence:: 3_prime_UTR_variant,missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000008.11:g.43361135T>C, NC_000008.11:g.43361135T>G, NC_000008.10:g.43216278T>C, NC_000008.10:g.43216278T>G, NM_001005365.2:c.*170T>C, NM_001005365.2:c.*170T>G, XM_024447146.1:c.1280T>C, XM_024447146.1:c.1280T>G, NM_001002920.1:c.*170T>C, NM_001002920.1:c.*170T>G, XP_024302914.1:p.Ile427Thr, XP_024302914.1:p.Ile427Arg

Select item 147424435119.

rs1474244351 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:43318594 (GRCh38)
8:43173737 (GRCh37)
Canonical SPDI:: NC_000008.11:43318593:C:A,NC_000008.11:43318593:C:T
Gene:: POTEA (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000008.11:g.43318594C>A, NC_000008.11:g.43318594C>T, NC_000008.10:g.43173737C>A, NC_000008.10:g.43173737C>T, NM_001005365.2:c.1159C>A, NM_001005365.2:c.1159C>T, XM_024447146.1:c.1159C>A, XM_024447146.1:c.1159C>T, NM_001002920.1:c.1021C>A, NM_001002920.1:c.1021C>T, NP_001005365.2:p.Pro387Thr, NP_001005365.2:p.Pro387Ser, XP_024302914.1:p.Pro387Thr, XP_024302914.1:p.Pro387Ser, NP_001002920.1:p.Pro341Thr, NP_001002920.1:p.Pro341Ser

Select item 147305744220.

rs1473057442 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCCCCTGCTGCAGGGGAAGCGGC>- [Show Flanks]
Chromosome:: 8:43292578 (GRCh38)
8:43147721 (GRCh37)
Canonical SPDI:: NC_000008.11:43292575:GCTTCCCCTGCTGCAGGGGAAGCGGC:GC
Gene:: POTEA (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: GC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.43292578_43292601del, NC_000008.10:g.43147721_43147744del, NM_001005365.2:c.94_117del, XM_024447146.1:c.94_117del, NM_001002920.1:c.94_117del, XM_047421756.1:c.94_117del, NP_001005365.2:p.Phe32_Gly39del, XP_024302914.1:p.Phe32_Gly39del, NP_001002920.1:p.Phe32_Gly39del, XP_047277712.1:p.Phe32_Gly39del

<< First< Prev

Page of 39

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 768

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity