SNP Links for Nucleotide (Select 974005162) - SNP

Links from Nucleotide

Items: 1 to 20 of 928

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Select item 14903270851.

rs1490327085 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:66424730 (GRCh38)
11:66192201 (GRCh37)
Canonical SPDI:: NC_000011.10:66424729:G:T
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.66424730G>T, NC_000011.9:g.66192201G>T, NM_178864.4:c.1840G>T, NM_178864.3:c.1840G>T, XM_017017538.2:c.1003G>T, XM_017017538.1:c.1003G>T, XM_047426764.1:c.2071G>T, XM_047426765.1:c.2071G>T, NM_001318804.1:c.1210G>T, NP_849195.2:p.Ala614Ser, XP_016873027.1:p.Ala335Ser, XP_047282720.1:p.Ala691Ser, XP_047282721.1:p.Ala691Ser, NP_001305733.1:p.Ala404Ser

Select item 14885746322.

rs1488574632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66426282 (GRCh38)
11:66193753 (GRCh37)
Canonical SPDI:: NC_000011.10:66426281:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66426282C>T, NC_000011.9:g.66193753C>T, NM_178864.4:c.*293C>T, NM_178864.3:c.*293C>T, XM_017017538.2:c.*293C>T, XM_047426764.1:c.*293C>T, XM_047426765.1:c.*293C>T, NM_001318804.1:c.*293C>T

Select item 14885116473.

rs1488511647 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66424234 (GRCh38)
11:66191705 (GRCh37)
Canonical SPDI:: NC_000011.10:66424233:G:A,NC_000011.10:66424233:G:T
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66424234G>A, NC_000011.10:g.66424234G>T, NC_000011.9:g.66191705G>A, NC_000011.9:g.66191705G>T, NM_178864.4:c.1344G>A, NM_178864.4:c.1344G>T, NM_178864.3:c.1344G>A, NM_178864.3:c.1344G>T, XM_017017538.2:c.507G>A, XM_017017538.2:c.507G>T, XM_017017538.1:c.507G>A, XM_017017538.1:c.507G>T, XM_047426764.1:c.1575G>A, XM_047426764.1:c.1575G>T, XM_047426765.1:c.1575G>A, XM_047426765.1:c.1575G>T, NM_001318804.1:c.714G>A, NM_001318804.1:c.714G>T, NP_849195.2:p.Leu448Phe, XP_016873027.1:p.Leu169Phe, XP_047282720.1:p.Leu525Phe, XP_047282721.1:p.Leu525Phe, NP_001305733.1:p.Leu238Phe

Select item 14884636114.

rs1488463611 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:66426034 (GRCh38)
11:66193505 (GRCh37)
Canonical SPDI:: NC_000011.10:66426033:AA:A
Gene:: NPAS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66426035del, NC_000011.9:g.66193506del, NM_178864.4:c.*46del, NM_178864.3:c.*46del, XM_017017538.2:c.*46del, XM_017017538.1:c.*46del, XM_047426764.1:c.*46del, XM_047426765.1:c.*46del, NM_001318804.1:c.*46del

Select item 14854011545.

rs1485401154 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:66425208 (GRCh38)
11:66192679 (GRCh37)
Canonical SPDI:: NC_000011.10:66425207:A:G
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66425208A>G, NC_000011.9:g.66192679A>G, NM_178864.4:c.2318A>G, NM_178864.3:c.2318A>G, XM_017017538.2:c.1481A>G, XM_017017538.1:c.1481A>G, XM_047426764.1:c.2549A>G, XM_047426765.1:c.2549A>G, NM_001318804.1:c.1688A>G, NP_849195.2:p.Tyr773Cys, XP_016873027.1:p.Tyr494Cys, XP_047282720.1:p.Tyr850Cys, XP_047282721.1:p.Tyr850Cys, NP_001305733.1:p.Tyr563Cys

Select item 14848451306.

rs1484845130 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66426285 (GRCh38)
11:66193756 (GRCh37)
Canonical SPDI:: NC_000011.10:66426284:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000011.10:g.66426285C>T, NC_000011.9:g.66193756C>T, NM_178864.4:c.*296C>T, NM_178864.3:c.*296C>T, XM_017017538.2:c.*296C>T, XM_047426764.1:c.*296C>T, XM_047426765.1:c.*296C>T, NM_001318804.1:c.*296C>T

Select item 14847897607.

rs1484789760 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66425111 (GRCh38)
11:66192582 (GRCh37)
Canonical SPDI:: NC_000011.10:66425110:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.66425111T>C, NC_000011.9:g.66192582T>C, NM_178864.4:c.2221T>C, NM_178864.3:c.2221T>C, XM_017017538.2:c.1384T>C, XM_017017538.1:c.1384T>C, XM_047426764.1:c.2452T>C, XM_047426765.1:c.2452T>C, NM_001318804.1:c.1591T>C, NP_849195.2:p.Ser741Pro, XP_016873027.1:p.Ser462Pro, XP_047282720.1:p.Ser818Pro, XP_047282721.1:p.Ser818Pro, NP_001305733.1:p.Ser531Pro

Select item 14846477618.

rs1484647761 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66422215 (GRCh38)
11:66189686 (GRCh37)
Canonical SPDI:: NC_000011.10:66422214:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,missense_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66422215G>A, NC_000011.9:g.66189686G>A, NM_178864.4:c.271G>A, NM_178864.3:c.271G>A, XM_047426764.1:c.502G>A, XM_047426765.1:c.502G>A, NM_001318804.1:c.-250G>A, XM_017017539.1:c.271G>A, NP_849195.2:p.Glu91Lys, XP_047282720.1:p.Glu168Lys, XP_047282721.1:p.Glu168Lys, XP_016873028.1:p.Glu91Lys

Select item 14842274779.

rs1484227477 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66425198 (GRCh38)
11:66192669 (GRCh37)
Canonical SPDI:: NC_000011.10:66425197:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66425198G>A, NC_000011.9:g.66192669G>A, NM_178864.4:c.2308G>A, NM_178864.3:c.2308G>A, XM_017017538.2:c.1471G>A, XM_017017538.1:c.1471G>A, XM_047426764.1:c.2539G>A, XM_047426765.1:c.2539G>A, NM_001318804.1:c.1678G>A, NP_849195.2:p.Ala770Thr, XP_016873027.1:p.Ala491Thr, XP_047282720.1:p.Ala847Thr, XP_047282721.1:p.Ala847Thr, NP_001305733.1:p.Ala560Thr

Select item 148334740310.

rs1483347403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:66424471 (GRCh38)
11:66191942 (GRCh37)
Canonical SPDI:: NC_000011.10:66424470:C:G,NC_000011.10:66424470:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.66424471C>G, NC_000011.10:g.66424471C>T, NC_000011.9:g.66191942C>G, NC_000011.9:g.66191942C>T, NM_178864.4:c.1581C>G, NM_178864.4:c.1581C>T, NM_178864.3:c.1581C>G, NM_178864.3:c.1581C>T, XM_017017538.2:c.744C>G, XM_017017538.2:c.744C>T, XM_017017538.1:c.744C>G, XM_017017538.1:c.744C>T, XM_047426764.1:c.1812C>G, XM_047426764.1:c.1812C>T, XM_047426765.1:c.1812C>G, XM_047426765.1:c.1812C>T, NM_001318804.1:c.951C>G, NM_001318804.1:c.951C>T

Select item 148277674111.

rs1482776741 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 11:66426140 (GRCh38)
11:66193611 (GRCh37)
Canonical SPDI:: NC_000011.10:66426139:A:
Gene:: NPAS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00055/1 (Korea1K)
HGVS:: NC_000011.10:g.66426140del, NC_000011.9:g.66193611del, NM_178864.4:c.*151del, NM_178864.3:c.*151del, XM_017017538.2:c.*151del, XM_047426764.1:c.*151del, XM_047426765.1:c.*151del, NM_001318804.1:c.*151del

Select item 148225803112.

rs1482258031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66424233 (GRCh38)
11:66191704 (GRCh37)
Canonical SPDI:: NC_000011.10:66424232:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66424233T>C, NC_000011.9:g.66191704T>C, NM_178864.4:c.1343T>C, NM_178864.3:c.1343T>C, XM_017017538.2:c.506T>C, XM_017017538.1:c.506T>C, XM_047426764.1:c.1574T>C, XM_047426765.1:c.1574T>C, NM_001318804.1:c.713T>C, NP_849195.2:p.Leu448Ser, XP_016873027.1:p.Leu169Ser, XP_047282720.1:p.Leu525Ser, XP_047282721.1:p.Leu525Ser, NP_001305733.1:p.Leu238Ser

Select item 148217183613.

rs1482171836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:66421091 (GRCh38)
11:66188562 (GRCh37)
Canonical SPDI:: NC_000011.10:66421090:G:C
Gene:: NPAS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,missense_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_000011.10:g.66421091G>C, NC_000011.9:g.66188562G>C, NM_178864.4:c.-89G>C, NM_178864.3:c.-89G>C, XM_047426764.1:c.143G>C, XM_047426765.1:c.143G>C, NM_001318804.1:c.-609G>C, XM_017017539.1:c.-89G>C, XP_047282720.1:p.Arg48Pro, XP_047282721.1:p.Arg48Pro

Select item 148144810514.

rs1481448105 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66422761 (GRCh38)
11:66190232 (GRCh37)
Canonical SPDI:: NC_000011.10:66422760:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422761T>C, NC_000011.9:g.66190232T>C, NM_178864.4:c.518T>C, NM_178864.3:c.518T>C, XM_047426764.1:c.749T>C, XM_047426765.1:c.749T>C, NM_001318804.1:c.-3T>C, XM_017017539.1:c.518T>C, NP_849195.2:p.Phe173Ser, XP_047282720.1:p.Phe250Ser, XP_047282721.1:p.Phe250Ser, XP_016873028.1:p.Phe173Ser

Select item 148023888015.

rs1480238880 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66422745 (GRCh38)
11:66190216 (GRCh37)
Canonical SPDI:: NC_000011.10:66422744:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.66422745C>T, NC_000011.9:g.66190216C>T, NM_178864.4:c.502C>T, NM_178864.3:c.502C>T, XM_047426764.1:c.733C>T, XM_047426765.1:c.733C>T, NM_001318804.1:c.-19C>T, XM_017017539.1:c.502C>T, NP_849195.2:p.Leu168Phe, XP_047282720.1:p.Leu245Phe, XP_047282721.1:p.Leu245Phe, XP_016873028.1:p.Leu168Phe

Select item 147945620416.

rs1479456204 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:66421203 (GRCh38)
11:66188674 (GRCh37)
Canonical SPDI:: NC_000011.10:66421202:C:T
Gene:: NPAS4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000011.10:g.66421203C>T, NC_000011.9:g.66188674C>T, NM_178864.4:c.24C>T, NM_178864.3:c.24C>T, XM_047426764.1:c.255C>T, XM_047426765.1:c.255C>T, NM_001318804.1:c.-497C>T, XM_017017539.1:c.24C>T

Select item 147817236017.

rs1478172360 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:66421337 (GRCh38)
11:66188808 (GRCh37)
Canonical SPDI:: NC_000011.10:66421336:G:A
Gene:: NPAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.66421337G>A, NC_000011.9:g.66188808G>A, NM_178864.4:c.158G>A, NM_178864.3:c.158G>A, XM_047426764.1:c.389G>A, XM_047426765.1:c.389G>A, NM_001318804.1:c.-363G>A, XM_017017539.1:c.158G>A, NP_849195.2:p.Gly53Asp, XP_047282720.1:p.Gly130Asp, XP_047282721.1:p.Gly130Asp, XP_016873028.1:p.Gly53Asp

Select item 147799446318.

rs1477994463 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:66426365 (GRCh38)
11:66193836 (GRCh37)
Canonical SPDI:: NC_000011.10:66426364:C:A
Gene:: NPAS4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.66426365C>A, NC_000011.9:g.66193836C>A, NM_178864.4:c.*376C>A, NM_178864.3:c.*376C>A, XM_017017538.2:c.*376C>A, XM_047426764.1:c.*376C>A, XM_047426765.1:c.*376C>A, NM_001318804.1:c.*376C>A

Select item 147756968619.

rs1477569686 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:66424166 (GRCh38)
11:66191637 (GRCh37)
Canonical SPDI:: NC_000011.10:66424165:T:C
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66424166T>C, NC_000011.9:g.66191637T>C, NM_178864.4:c.1276T>C, NM_178864.3:c.1276T>C, XM_017017538.2:c.439T>C, XM_017017538.1:c.439T>C, XM_047426764.1:c.1507T>C, XM_047426765.1:c.1507T>C, NM_001318804.1:c.646T>C, NP_849195.2:p.Tyr426His, XP_016873027.1:p.Tyr147His, XP_047282720.1:p.Tyr503His, XP_047282721.1:p.Tyr503His, NP_001305733.1:p.Tyr216His

Select item 147755832320.

rs1477558323 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:66424895 (GRCh38)
11:66192366 (GRCh37)
Canonical SPDI:: NC_000011.10:66424894:G:A,NC_000011.10:66424894:G:T
Gene:: NPAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.66424895G>A, NC_000011.10:g.66424895G>T, NC_000011.9:g.66192366G>A, NC_000011.9:g.66192366G>T, NM_178864.4:c.2005G>A, NM_178864.4:c.2005G>T, NM_178864.3:c.2005G>A, NM_178864.3:c.2005G>T, XM_017017538.2:c.1168G>A, XM_017017538.2:c.1168G>T, XM_017017538.1:c.1168G>A, XM_017017538.1:c.1168G>T, XM_047426764.1:c.2236G>A, XM_047426764.1:c.2236G>T, XM_047426765.1:c.2236G>A, XM_047426765.1:c.2236G>T, NM_001318804.1:c.1375G>A, NM_001318804.1:c.1375G>T, NP_849195.2:p.Asp669Asn, NP_849195.2:p.Asp669Tyr, XP_016873027.1:p.Asp390Asn, XP_016873027.1:p.Asp390Tyr, XP_047282720.1:p.Asp746Asn, XP_047282720.1:p.Asp746Tyr, XP_047282721.1:p.Asp746Asn, XP_047282721.1:p.Asp746Tyr, NP_001305733.1:p.Asp459Asn, NP_001305733.1:p.Asp459Tyr

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