SNP Links for Gene (Select 29850) - SNP

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Select item 14913331101.

rs1491333110 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 11:2419449 (GRCh38)
11:2440680 (GRCh37)
Canonical SPDI:: NC_000011.10:2419449::G
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.2419449_2419450insG, NC_000011.9:g.2440679_2440680insG

Select item 14911204922.

rs1491120492 has merged into rs57385993 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:2419458 (GRCh38)
11:2440688 (GRCh37)
Canonical SPDI:: NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:2419448:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAA=0.4161/2084 (1000Genomes)
HGVS:: NC_000011.10:g.2419458_2419467del, NC_000011.10:g.2419459_2419467del, NC_000011.10:g.2419460_2419467del, NC_000011.10:g.2419461_2419467del, NC_000011.10:g.2419462_2419467del, NC_000011.10:g.2419463_2419467del, NC_000011.10:g.2419464_2419467del, NC_000011.10:g.2419465_2419467del, NC_000011.10:g.2419466_2419467del, NC_000011.10:g.2419467del, NC_000011.10:g.2419467dup, NC_000011.10:g.2419466_2419467dup, NC_000011.9:g.2440688_2440697del, NC_000011.9:g.2440689_2440697del, NC_000011.9:g.2440690_2440697del, NC_000011.9:g.2440691_2440697del, NC_000011.9:g.2440692_2440697del, NC_000011.9:g.2440693_2440697del, NC_000011.9:g.2440694_2440697del, NC_000011.9:g.2440695_2440697del, NC_000011.9:g.2440696_2440697del, NC_000011.9:g.2440697del, NC_000011.9:g.2440697dup, NC_000011.9:g.2440696_2440697dup

Select item 14907179533.

rs1490717953 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2411165 (GRCh38)
11:2432395 (GRCh37)
Canonical SPDI:: NC_000011.10:2411164:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2411165G>A, NC_000011.9:g.2432395G>A

Select item 14906506744.

rs1490650674 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2416966 (GRCh38)
11:2438196 (GRCh37)
Canonical SPDI:: NC_000011.10:2416965:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2416966C>T, NC_000011.9:g.2438196C>T, XM_047426859.1:c.-1082G>A

Select item 14904761355.

rs1490476135 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG [Show Flanks]
Chromosome:: 11:2413820 (GRCh38)
11:2435050 (GRCh37)
Canonical SPDI:: NC_000011.10:2413817:GGGGG:GG,NC_000011.10:2413817:GGGGG:GGGG
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0.000066/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.2413820_2413822del, NC_000011.10:g.2413822del, NC_000011.9:g.2435050_2435052del, NC_000011.9:g.2435052del

Select item 14904610746.

rs1490461074 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:2412025 (GRCh38)
11:2433255 (GRCh37)
Canonical SPDI:: NC_000011.10:2412024:C:G,NC_000011.10:2412024:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000011.10:g.2412025C>G, NC_000011.10:g.2412025C>T, NC_000011.9:g.2433255C>G, NC_000011.9:g.2433255C>T

Select item 14902810707.

rs1490281070 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:2405683 (GRCh38)
11:2426913 (GRCh37)
Canonical SPDI:: NC_000011.10:2405682:G:A,NC_000011.10:2405682:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.2405683G>A, NC_000011.10:g.2405683G>C, NC_000011.9:g.2426913G>A, NC_000011.9:g.2426913G>C

Select item 14902235878.

rs1490223587 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCAGCCTGCCCCCTGCA>- [Show Flanks]
Chromosome:: 11:2415614 (GRCh38)
11:2436844 (GRCh37)
Canonical SPDI:: NC_000011.10:2415607:CCTGCACCCCAGCCTGCCCCCTGCA:CCTGCA
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTGCA=0.000071/1 (ALFA)
-=0.000208/55 (TOPMED)
-=0.000285/40 (GnomAD)
HGVS:: NC_000011.10:g.2415614_2415632del, NC_000011.9:g.2436844_2436862del

Select item 14898301609.

rs1489830160 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:2416596 (GRCh38)
11:2437826 (GRCh37)
Canonical SPDI:: NC_000011.10:2416595:T:C
Gene:: TRPM5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_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.2416596T>C, NC_000011.9:g.2437826T>C, XM_047426859.1:c.-712A>G

Select item 148978867210.

rs1489788672 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:2405940 (GRCh38)
11:2427170 (GRCh37)
Canonical SPDI:: NC_000011.10:2405939:C:A
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.2405940C>A, NC_000011.9:g.2427170C>A

Select item 148961022411.

rs1489610224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2414118 (GRCh38)
11:2435348 (GRCh37)
Canonical SPDI:: NC_000011.10:2414117:G:T
Gene:: TRPM5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000011.10:g.2414118G>T, NC_000011.9:g.2435348G>T, NM_014555.4:c.1833C>A, NM_014555.3:c.1833C>A, XM_017017628.2:c.1887C>A, XM_017017628.1:c.1887C>A, XM_047426858.1:c.1887C>A, XM_047426859.1:c.684C>A, NP_055370.1:p.Cys611Ter, XP_016873117.1:p.Cys629Ter, XP_047282814.1:p.Cys629Ter, XP_047282815.1:p.Cys228Ter

Select item 148913781112.

rs1489137811 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:2405459 (GRCh38)
11:2426689 (GRCh37)
Canonical SPDI:: NC_000011.10:2405458:G:A,NC_000011.10:2405458:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.2405459G>A, NC_000011.10:g.2405459G>C, NC_000011.9:g.2426689G>A, NC_000011.9:g.2426689G>C

Select item 148897835413.

rs1488978354 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:2415398 (GRCh38)
11:2436628 (GRCh37)
Canonical SPDI:: NC_000011.10:2415397:T:
Gene:: TRPM5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2415398del, NC_000011.9:g.2436628del, NM_014555.4:c.1202del, NM_014555.3:c.1202del, XM_017017628.2:c.1256del, XM_017017628.1:c.1256del, XM_047426858.1:c.1256del, XM_047426859.1:c.53del, NP_055370.1:p.Asp401fs, XP_016873117.1:p.Asp419fs, XP_047282814.1:p.Asp419fs, XP_047282815.1:p.Asp18fs

Select item 148889572014.

rs1488895720 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:2411528 (GRCh38)
11:2432758 (GRCh37)
Canonical SPDI:: NC_000011.10:2411527:T:A,NC_000011.10:2411527:T:C
Gene:: TRPM5 (Varview)
Functional Consequence:: splice_acceptor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.001092/2 (Korea1K)
HGVS:: NC_000011.10:g.2411528T>A, NC_000011.10:g.2411528T>C, NC_000011.9:g.2432758T>A, NC_000011.9:g.2432758T>C

Select item 148884371015.

rs1488843710 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2424336 (GRCh38)
11:2445566 (GRCh37)
Canonical SPDI:: NC_000011.10:2424335:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.2424336G>C, NC_000011.9:g.2445566G>C

Select item 148878646616.

rs1488786466 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2409743 (GRCh38)
11:2430973 (GRCh37)
Canonical SPDI:: NC_000011.10:2409742:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_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.2409743G>C, NC_000011.9:g.2430973G>C

Select item 148861021017.

rs1488610210 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:2417650 (GRCh38)
11:2438880 (GRCh37)
Canonical SPDI:: NC_000011.10:2417649:G:C
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.2417650G>C, NC_000011.9:g.2438880G>C

Select item 148845523818.

rs1488455238 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:2410694 (GRCh38)
11:2431924 (GRCh37)
Canonical SPDI:: NC_000011.10:2410693:G:T
Gene:: TRPM5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000016/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2410694G>T, NC_000011.9:g.2431924G>T

Select item 148839189219.

rs1488391892 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:2422081 (GRCh38)
11:2443311 (GRCh37)
Canonical SPDI:: NC_000011.10:2422080:G:A
Gene:: TRPM5 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0009/4 (ALFA)
HGVS:: NC_000011.10:g.2422081G>A, NC_000011.9:g.2443311G>A

Select item 148817094220.

rs1488170942 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:2404938 (GRCh38)
11:2426168 (GRCh37)
Canonical SPDI:: NC_000011.10:2404937:C:T
Gene:: TRPM5 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,terminator_codon_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.2404938C>T, NC_000011.9:g.2426168C>T, NM_014555.4:c.3497G>A, NM_014555.3:c.3497G>A, XM_047426858.1:c.3554G>A, XM_047426859.1:c.2375G>A

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