SNP Links for Nucleotide (Select 297206834) - SNP

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148484372 (GRCh38)
5:147863935 (GRCh37)
Canonical SPDI:: NC_000005.10:148484371:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148484372A>G, NC_000005.9:g.147863935A>G, NG_029052.1:g.174805T>C, NM_001040173.2:c.1084T>C, NP_001035263.1:p.Phe362Leu

Select item 14849492158.

rs1484949215 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148482401 (GRCh38)
5:147861964 (GRCh37)
Canonical SPDI:: NC_000005.10:148482400:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148482401A>G, NC_000005.9:g.147861964A>G, NG_029052.1:g.176776T>C, NM_000870.7:c.*802T>C, NM_000870.6:c.*802T>C, NM_000870.5:c.*802T>C, NR_104445.2:n.2729T>C, NR_104445.1:n.2729T>C, NM_001040173.2:c.*802T>C

Select item 14849120609.

rs1484912060 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148482926 (GRCh38)
5:147862489 (GRCh37)
Canonical SPDI:: NC_000005.10:148482925:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.148482926A>G, NC_000005.9:g.147862489A>G, NG_029052.1:g.176251T>C, NM_000870.7:c.*277T>C, NM_000870.6:c.*277T>C, NM_000870.5:c.*277T>C, NR_104445.2:n.2204T>C, NR_104445.1:n.2204T>C, NM_001040173.2:c.*277T>C

Select item 148313760910.

rs1483137609 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:148509894 (GRCh38)
5:147889457 (GRCh37)
Canonical SPDI:: NC_000005.10:148509893:T:A
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_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=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.148509894T>A, NC_000005.9:g.147889457T>A, NG_029052.1:g.149283A>T, NM_000870.7:c.638A>T, NM_000870.6:c.638A>T, NM_000870.5:c.638A>T, NM_199453.3:c.638A>T, NR_104445.2:n.1151A>T, NR_104445.1:n.1151A>T, NM_001040173.2:c.638A>T, NM_001040169.2:c.638A>T, NM_001040172.2:c.638A>T, NM_001286410.1:c.638A>T, NM_001040174.1:c.638A>T, NM_001040171.1:c.638A>T, NP_000861.1:p.Tyr213Phe, NP_955525.1:p.Tyr213Phe, NP_001035263.1:p.Tyr213Phe, NP_001035259.1:p.Tyr213Phe, NP_001035262.2:p.Tyr213Phe, NP_001273339.1:p.Tyr213Phe

Select item 147765190011.

rs1477651900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148509581 (GRCh38)
5:147889144 (GRCh37)
Canonical SPDI:: NC_000005.10:148509580:C:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509581C>T, NC_000005.9:g.147889144C>T, NG_029052.1:g.149596G>A, NM_000870.7:c.951G>A, NM_000870.6:c.951G>A, NM_000870.5:c.951G>A, NM_199453.3:c.951G>A, NR_104445.2:n.1464G>A, NR_104445.1:n.1464G>A, NM_001040173.2:c.951G>A, NM_001040169.2:c.951G>A, NM_001040172.2:c.951G>A, NM_001286410.1:c.951G>A, NM_001040174.1:c.951G>A, NM_001040171.1:c.951G>A

Select item 147735639312.

rs1477356393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 5:148523237 (GRCh38)
5:147902800 (GRCh37)
Canonical SPDI:: NC_000005.10:148523236:G:A,NC_000005.10:148523236:G:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.148523237G>A, NC_000005.10:g.148523237G>T, NC_000005.9:g.147902800G>A, NC_000005.9:g.147902800G>T, NG_029052.1:g.135940C>T, NG_029052.1:g.135940C>A, NM_000870.7:c.463C>T, NM_000870.7:c.463C>A, NM_000870.6:c.463C>T, NM_000870.6:c.463C>A, NM_000870.5:c.463C>T, NM_000870.5:c.463C>A, NM_199453.3:c.463C>T, NM_199453.3:c.463C>A, NR_104445.2:n.976C>T, NR_104445.2:n.976C>A, NR_104445.1:n.976C>T, NR_104445.1:n.976C>A, NM_001040173.2:c.463C>T, NM_001040173.2:c.463C>A, NM_001040169.2:c.463C>T, NM_001040169.2:c.463C>A, NM_001040172.2:c.463C>T, NM_001040172.2:c.463C>A, NM_001286410.1:c.463C>T, NM_001286410.1:c.463C>A, NM_001040174.1:c.463C>T, NM_001040174.1:c.463C>A, NM_001040171.1:c.463C>T, NM_001040171.1:c.463C>A, NP_000861.1:p.Leu155Phe, NP_000861.1:p.Leu155Ile, NP_955525.1:p.Leu155Phe, NP_955525.1:p.Leu155Ile, NP_001035263.1:p.Leu155Phe, NP_001035263.1:p.Leu155Ile, NP_001035259.1:p.Leu155Phe, NP_001035259.1:p.Leu155Ile, NP_001035262.2:p.Leu155Phe, NP_001035262.2:p.Leu155Ile, NP_001273339.1:p.Leu155Phe, NP_001273339.1:p.Leu155Ile

Select item 147565373313.

rs1475653733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:148509927 (GRCh38)
5:147889490 (GRCh37)
Canonical SPDI:: NC_000005.10:148509926:T:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00066/10 (ALFA)
C=0.000064/9 (GnomAD)
C=0.002232/10 (Estonian)
HGVS:: NC_000005.10:g.148509927T>C, NC_000005.9:g.147889490T>C, NG_029052.1:g.149250A>G, NM_000870.7:c.605A>G, NM_000870.6:c.605A>G, NM_000870.5:c.605A>G, NM_199453.3:c.605A>G, NR_104445.2:n.1118A>G, NR_104445.1:n.1118A>G, NM_001040173.2:c.605A>G, NM_001040169.2:c.605A>G, NM_001040172.2:c.605A>G, NM_001286410.1:c.605A>G, NM_001040174.1:c.605A>G, NM_001040171.1:c.605A>G, NP_000861.1:p.Tyr202Cys, NP_955525.1:p.Tyr202Cys, NP_001035263.1:p.Tyr202Cys, NP_001035259.1:p.Tyr202Cys, NP_001035262.2:p.Tyr202Cys, NP_001273339.1:p.Tyr202Cys

Select item 147559743814.

rs1475597438 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:148509521 (GRCh38)
5:147889084 (GRCh37)
Canonical SPDI:: NC_000005.10:148509520:A:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.148509521A>G, NC_000005.9:g.147889084A>G, NG_029052.1:g.149656T>C, NM_000870.7:c.1011T>C, NM_000870.6:c.1011T>C, NM_000870.5:c.1011T>C, NM_199453.3:c.1011T>C, NR_104445.2:n.1524T>C, NR_104445.1:n.1524T>C, NM_001040173.2:c.1011T>C, NM_001040169.2:c.1011T>C, NM_001040172.2:c.1011T>C, NM_001286410.1:c.1011T>C, NM_001040174.1:c.1011T>C, NM_001040171.1:c.1011T>C

Select item 147390763515.

rs1473907635 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148637051 (GRCh38)
5:148016614 (GRCh37)
Canonical SPDI:: NC_000005.10:148637050:C:T
Gene:: HTR4 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: T=0.000004/1 (GnomAD_exomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.148637051C>T, NC_000005.9:g.148016614C>T, NG_029052.1:g.22126G>A, NM_000870.7:c.-37G>A, NM_000870.6:c.-37G>A, NM_000870.5:c.-37G>A, NM_199453.3:c.-37G>A, NR_104445.2:n.477G>A, NR_104445.1:n.477G>A, NM_001040173.2:c.-37G>A, NM_001040169.2:c.-37G>A, NM_001040172.2:c.-37G>A, NM_001286410.1:c.-37G>A, NM_001040174.1:c.-37G>A, NM_001040171.1:c.-37G>A

Select item 147374206916.

rs1473742069 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:148509538 (GRCh38)
5:147889101 (GRCh37)
Canonical SPDI:: NC_000005.10:148509537:C:T
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148509538C>T, NC_000005.9:g.147889101C>T, NG_029052.1:g.149639G>A, NM_000870.7:c.994G>A, NM_000870.6:c.994G>A, NM_000870.5:c.994G>A, NM_199453.3:c.994G>A, NR_104445.2:n.1507G>A, NR_104445.1:n.1507G>A, NM_001040173.2:c.994G>A, NM_001040169.2:c.994G>A, NM_001040172.2:c.994G>A, NM_001286410.1:c.994G>A, NM_001040174.1:c.994G>A, NM_001040171.1:c.994G>A, NP_000861.1:p.Glu332Lys, NP_955525.1:p.Glu332Lys, NP_001035263.1:p.Glu332Lys, NP_001035259.1:p.Glu332Lys, NP_001035262.2:p.Glu332Lys, NP_001273339.1:p.Glu332Lys

Select item 147341709917.

rs1473417099 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:148482579 (GRCh38)
5:147862142 (GRCh37)
Canonical SPDI:: NC_000005.10:148482578:G:A
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.148482579G>A, NC_000005.9:g.147862142G>A, NG_029052.1:g.176598C>T, NM_000870.7:c.*624C>T, NM_000870.6:c.*624C>T, NM_000870.5:c.*624C>T, NR_104445.2:n.2551C>T, NR_104445.1:n.2551C>T, NM_001040173.2:c.*624C>T

Select item 147285311118.

rs1472853111 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:148482563 (GRCh38)
5:147862126 (GRCh37)
Canonical SPDI:: NC_000005.10:148482562:T:A,NC_000005.10:148482562:T:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.148482563T>A, NC_000005.10:g.148482563T>C, NC_000005.9:g.147862126T>A, NC_000005.9:g.147862126T>C, NG_029052.1:g.176614A>T, NG_029052.1:g.176614A>G, NM_000870.7:c.*640A>T, NM_000870.7:c.*640A>G, NM_000870.6:c.*640A>T, NM_000870.6:c.*640A>G, NM_000870.5:c.*640A>T, NM_000870.5:c.*640A>G, NR_104445.2:n.2567A>T, NR_104445.2:n.2567A>G, NR_104445.1:n.2567A>T, NR_104445.1:n.2567A>G, NM_001040173.2:c.*640A>T, NM_001040173.2:c.*640A>G

Select item 147243716719.

rs1472437167 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:148482131 (GRCh38)
5:147861694 (GRCh37)
Canonical SPDI:: NC_000005.10:148482130:C:G
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,non_coding_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_000005.10:g.148482131C>G, NC_000005.9:g.147861694C>G, NG_029052.1:g.177046G>C, NM_000870.7:c.*1072G>C, NM_000870.6:c.*1072G>C, NM_000870.5:c.*1072G>C, NR_104445.2:n.2999G>C, NR_104445.1:n.2999G>C, NM_001040173.2:c.*1072G>C

Select item 147090465020.

rs1470904650 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:148481591 (GRCh38)
5:147861154 (GRCh37)
Canonical SPDI:: NC_000005.10:148481590:T:C
Gene:: HTR4 (Varview), LOC107986462 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.148481591T>C, NC_000005.9:g.147861154T>C, NG_029052.1:g.177586A>G, NM_000870.7:c.*1612A>G, NM_000870.6:c.*1612A>G, NM_000870.5:c.*1612A>G, NR_104445.2:n.3539A>G, NR_104445.1:n.3539A>G, NM_001040173.2:c.*1612A>G, NM_001286410.1:c.1115A>G, NP_001273339.1:p.Lys372Arg

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