SNP Links for Nucleotide (Select 767940902) - SNP

Links from Nucleotide

Items: 1 to 20 of 786

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Select item 14874082871.

rs1487408287 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:39191728 (GRCh38)
6:39159504 (GRCh37)
Canonical SPDI:: NC_000006.12:39191727:G:T
Gene:: KCNK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.39191728G>T, NC_000006.11:g.39159504G>T, NM_003740.4:c.662C>A, NM_003740.3:c.662C>A, XM_005249456.2:c.653C>A, XM_005249456.1:c.653C>A, XM_006715235.2:c.116C>A, XM_006715235.1:c.116C>A, NP_003731.1:p.Ala221Asp, XP_005249513.1:p.Ala218Asp, XP_006715298.1:p.Ala39Asp

Select item 14870802752.

rs1487080275 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTA>- [Show Flanks]
Chromosome:: 6:39189727 (GRCh38)
6:39157503 (GRCh37)
Canonical SPDI:: NC_000006.12:39189726:CTTA:
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.39189727_39189730del, NC_000006.11:g.39157503_39157506del, NM_003740.4:c.*1160_*1163del, NM_003740.3:c.*1160_*1163del, XM_005249456.2:c.*1160_*1163del, XM_005249456.1:c.*1160_*1163del, XM_006715235.2:c.*1160_*1163del, XM_006715235.1:c.*1160_*1163del

Select item 14860334893.

rs1486033489 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:39189186 (GRCh38)
6:39156962 (GRCh37)
Canonical SPDI:: NC_000006.12:39189185:G:A
Gene:: KCNK5 (Varview)
Functional Consequence:: 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_000006.12:g.39189186G>A, NC_000006.11:g.39156962G>A, NM_003740.4:c.*1704C>T, NM_003740.3:c.*1704C>T, XM_005249456.2:c.*1704C>T, XM_005249456.1:c.*1704C>T, XM_006715235.2:c.*1704C>T, XM_006715235.1:c.*1704C>T

Select item 14855290534.

rs1485529053 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 6:39191079 (GRCh38)
6:39158856 (GRCh37)
Canonical SPDI:: NC_000006.12:39191079::A
Gene:: KCNK5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.39191079_39191080insA, NC_000006.11:g.39158855_39158856insA, NM_003740.4:c.1310_1311insT, NM_003740.3:c.1310_1311insT, XM_005249456.2:c.1301_1302insT, XM_005249456.1:c.1301_1302insT, XM_006715235.2:c.764_765insT, XM_006715235.1:c.764_765insT, NP_003731.1:p.Ser438fs, XP_005249513.1:p.Ser435fs, XP_006715298.1:p.Ser256fs

Select item 14834095975.

rs1483409597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:39191071 (GRCh38)
6:39158847 (GRCh37)
Canonical SPDI:: NC_000006.12:39191070:T:C
Gene:: KCNK5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000057/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.39191071T>C, NC_000006.11:g.39158847T>C, NM_003740.4:c.1319A>G, NM_003740.3:c.1319A>G, XM_005249456.2:c.1310A>G, XM_005249456.1:c.1310A>G, XM_006715235.2:c.773A>G, XM_006715235.1:c.773A>G, NP_003731.1:p.Glu440Gly, XP_005249513.1:p.Glu437Gly, XP_006715298.1:p.Glu258Gly

Select item 14816605346.

rs1481660534 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:39189065 (GRCh38)
6:39156841 (GRCh37)
Canonical SPDI:: NC_000006.12:39189064:G:C
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.39189065G>C, NC_000006.11:g.39156841G>C, NM_003740.4:c.*1825C>G, NM_003740.3:c.*1825C>G, XM_005249456.2:c.*1825C>G, XM_005249456.1:c.*1825C>G, XM_006715235.2:c.*1825C>G, XM_006715235.1:c.*1825C>G

Select item 14816523767.

rs1481652376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:39190017 (GRCh38)
6:39157793 (GRCh37)
Canonical SPDI:: NC_000006.12:39190016:G:A
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.39190017G>A, NC_000006.11:g.39157793G>A, NM_003740.4:c.*873C>T, NM_003740.3:c.*873C>T, XM_005249456.2:c.*873C>T, XM_005249456.1:c.*873C>T, XM_006715235.2:c.*873C>T, XM_006715235.1:c.*873C>T

Select item 14787337648.

rs1478733764 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:39191372 (GRCh38)
6:39159148 (GRCh37)
Canonical SPDI:: NC_000006.12:39191371:A:C
Gene:: KCNK5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.39191372A>C, NC_000006.11:g.39159148A>C, NM_003740.4:c.1018T>G, NM_003740.3:c.1018T>G, XM_005249456.2:c.1009T>G, XM_005249456.1:c.1009T>G, XM_006715235.2:c.472T>G, XM_006715235.1:c.472T>G, NP_003731.1:p.Ser340Ala, XP_005249513.1:p.Ser337Ala, XP_006715298.1:p.Ser158Ala

Select item 14772306069.

rs1477230606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:39191313 (GRCh38)
6:39159089 (GRCh37)
Canonical SPDI:: NC_000006.12:39191312:T:C
Gene:: KCNK5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_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_000006.12:g.39191313T>C, NC_000006.11:g.39159089T>C, NM_003740.4:c.1077A>G, NM_003740.3:c.1077A>G, XM_005249456.2:c.1068A>G, XM_005249456.1:c.1068A>G, XM_006715235.2:c.531A>G, XM_006715235.1:c.531A>G

Select item 147691183610.

rs1476911836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:39191615 (GRCh38)
6:39159391 (GRCh37)
Canonical SPDI:: NC_000006.12:39191614:G:A
Gene:: KCNK5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.39191615G>A, NC_000006.11:g.39159391G>A, NM_003740.4:c.775C>T, NM_003740.3:c.775C>T, XM_005249456.2:c.766C>T, XM_005249456.1:c.766C>T, XM_006715235.2:c.229C>T, XM_006715235.1:c.229C>T, NP_003731.1:p.Arg259Trp, XP_005249513.1:p.Arg256Trp, XP_006715298.1:p.Arg77Trp

Select item 147570763511.

rs1475707635 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:39189050 (GRCh38)
6:39156826 (GRCh37)
Canonical SPDI:: NC_000006.12:39189049:T:C
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
HGVS:: NC_000006.12:g.39189050T>C, NC_000006.11:g.39156826T>C, NM_003740.4:c.*1840A>G, NM_003740.3:c.*1840A>G, XM_005249456.2:c.*1840A>G, XM_005249456.1:c.*1840A>G, XM_006715235.2:c.*1840A>G, XM_006715235.1:c.*1840A>G

Select item 147474576612.

rs1474745766 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:39189176 (GRCh38)
6:39156952 (GRCh37)
Canonical SPDI:: NC_000006.12:39189175:G:A
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.39189176G>A, NC_000006.11:g.39156952G>A, NM_003740.4:c.*1714C>T, NM_003740.3:c.*1714C>T, XM_005249456.2:c.*1714C>T, XM_005249456.1:c.*1714C>T, XM_006715235.2:c.*1714C>T, XM_006715235.1:c.*1714C>T

Select item 147459498313.

rs1474594983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:39189710 (GRCh38)
6:39157486 (GRCh37)
Canonical SPDI:: NC_000006.12:39189709:C:A
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_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_000006.12:g.39189710C>A, NC_000006.11:g.39157486C>A, NM_003740.4:c.*1180G>T, NM_003740.3:c.*1180G>T, XM_005249456.2:c.*1180G>T, XM_005249456.1:c.*1180G>T, XM_006715235.2:c.*1180G>T, XM_006715235.1:c.*1180G>T

Select item 147360737014.

rs1473607370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:39191063 (GRCh38)
6:39158839 (GRCh37)
Canonical SPDI:: NC_000006.12:39191062:A:G
Gene:: KCNK5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.39191063A>G, NC_000006.11:g.39158839A>G, NM_003740.4:c.1327T>C, NM_003740.3:c.1327T>C, XM_005249456.2:c.1318T>C, XM_005249456.1:c.1318T>C, XM_006715235.2:c.781T>C, XM_006715235.1:c.781T>C

Select item 147289829015.

rs1472898290 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:39191230 (GRCh38)
6:39159006 (GRCh37)
Canonical SPDI:: NC_000006.12:39191229:G:A,NC_000006.12:39191229:G:T
Gene:: KCNK5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.39191230G>A, NC_000006.12:g.39191230G>T, NC_000006.11:g.39159006G>A, NC_000006.11:g.39159006G>T, NM_003740.4:c.1160C>T, NM_003740.4:c.1160C>A, NM_003740.3:c.1160C>T, NM_003740.3:c.1160C>A, XM_005249456.2:c.1151C>T, XM_005249456.2:c.1151C>A, XM_005249456.1:c.1151C>T, XM_005249456.1:c.1151C>A, XM_006715235.2:c.614C>T, XM_006715235.2:c.614C>A, XM_006715235.1:c.614C>T, XM_006715235.1:c.614C>A, NP_003731.1:p.Ala387Val, NP_003731.1:p.Ala387Asp, XP_005249513.1:p.Ala384Val, XP_005249513.1:p.Ala384Asp, XP_006715298.1:p.Ala205Val, XP_006715298.1:p.Ala205Asp

Select item 147092275316.

rs1470922753 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:39194284 (GRCh38)
6:39162060 (GRCh37)
Canonical SPDI:: NC_000006.12:39194283:G:C
Gene:: KCNK5 (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.39194284G>C, NC_000006.11:g.39162060G>C, NM_003740.4:c.519C>G, NM_003740.3:c.519C>G, XM_005249456.2:c.510C>G, XM_005249456.1:c.510C>G, XM_006715235.2:c.-28C>G, XM_006715235.1:c.-28C>G

Select item 146845994517.

rs1468459945 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:39189807 (GRCh38)
6:39157583 (GRCh37)
Canonical SPDI:: NC_000006.12:39189806:A:G
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.39189807A>G, NC_000006.11:g.39157583A>G, NM_003740.4:c.*1083T>C, NM_003740.3:c.*1083T>C, XM_005249456.2:c.*1083T>C, XM_005249456.1:c.*1083T>C, XM_006715235.2:c.*1083T>C, XM_006715235.1:c.*1083T>C

Select item 146822777418.

rs1468227774 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:39189781 (GRCh38)
6:39157557 (GRCh37)
Canonical SPDI:: NC_000006.12:39189780:A:G
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.39189781A>G, NC_000006.11:g.39157557A>G, NM_003740.4:c.*1109T>C, NM_003740.3:c.*1109T>C, XM_005249456.2:c.*1109T>C, XM_005249456.1:c.*1109T>C, XM_006715235.2:c.*1109T>C, XM_006715235.1:c.*1109T>C

Select item 146724454219.

rs1467244542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:39190943 (GRCh38)
6:39158719 (GRCh37)
Canonical SPDI:: NC_000006.12:39190942:A:G
Gene:: KCNK5 (Varview)
Functional Consequence:: missense_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_000006.12:g.39190943A>G, NC_000006.11:g.39158719A>G, NM_003740.4:c.1447T>C, NM_003740.3:c.1447T>C, XM_005249456.2:c.1438T>C, XM_005249456.1:c.1438T>C, XM_006715235.2:c.901T>C, XM_006715235.1:c.901T>C, NP_003731.1:p.Tyr483His, XP_005249513.1:p.Tyr480His, XP_006715298.1:p.Tyr301His

Select item 146723038820.

rs1467230388 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTGCGTGTGCACA [Show Flanks]
Chromosome:: 6:39189741 (GRCh38)
6:39157518 (GRCh37)
Canonical SPDI:: NC_000006.12:39189741:GTGCACAGGTGTGCGTGTGCACA:GTGCACAGGTGTGCGTGTGCACAGGTGTGCGTGTGCACA
Gene:: KCNK5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: GTGCACAGGTGTGCGTGTGCACAGGTGTGCGTGTGCACA=0./0 (ALFA)
GTGCACAGGTGTGCGT=0.000071/10 (GnomAD)
HGVS:: NC_000006.12:g.39189749_39189764dup, NC_000006.11:g.39157525_39157540dup, NM_003740.4:c.*1133_*1148dup, NM_003740.3:c.*1133_*1148dup, XM_005249456.2:c.*1133_*1148dup, XM_005249456.1:c.*1133_*1148dup, XM_006715235.2:c.*1133_*1148dup, XM_006715235.1:c.*1133_*1148dup

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