SNP Links for Nucleotide (Select 752293540) - SNP

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Links from Nucleotide

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Select item 14880092461.

rs1488009246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:114485632 (GRCh38)
5:113821329 (GRCh37)
Canonical SPDI:: NC_000005.10:114485631:C:T
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.114485632C>T, NC_000005.9:g.113821329C>T, NR_130785.1:n.626G>A

Select item 14880051222.

rs1488005122 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:114472259 (GRCh38)
5:113807956 (GRCh37)
Canonical SPDI:: NC_000005.10:114472255:CTCTC:CTC
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTC=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.114472257TC[1], NC_000005.9:g.113807954TC[1], NR_130785.1:n.1341AG[1]

Select item 14876692493.

rs1487669249 has merged into rs1192964982 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT [Show Flanks]
Chromosome:: 5:114472334 (GRCh38)
5:113808031 (GRCh37)
Canonical SPDI:: NC_000005.10:114472332:TTTTT:T,NC_000005.10:114472332:TTTTT:TTT
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.114472334_114472337del, NC_000005.10:g.114472336_114472337del, NC_000005.9:g.113808031_113808034del, NC_000005.9:g.113808033_113808034del, NR_130785.1:n.1264_1267del, NR_130785.1:n.1266_1267del

Select item 14842182414.

rs1484218241 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:114448613 (GRCh38)
5:113784310 (GRCh37)
Canonical SPDI:: NC_000005.10:114448612:C:A
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.114448613C>A, NC_000005.9:g.113784310C>A, NR_130785.1:n.1730G>T

Select item 14819988405.

rs1481998840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:114496160 (GRCh38)
5:113831857 (GRCh37)
Canonical SPDI:: NC_000005.10:114496159:C:G
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,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)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.114496160C>G, NC_000005.9:g.113831857C>G, NM_021614.4:c.2354C>G, NM_021614.3:c.1718C>G, NM_170775.3:c.674C>G, NM_170775.2:c.674C>G, XM_011543389.2:c.2552C>G, XM_011543389.1:c.2552C>G, NM_001278204.2:c.674C>G, NR_103458.2:n.1242C>G, NR_103458.1:n.1223C>G, XM_017009457.2:c.806C>G, XM_017009457.1:c.806C>G, XM_047417166.1:c.2522C>G, NM_001372233.1:c.2552C>G, NR_174097.1:n.2005C>G, NM_001278204.1:c.674C>G, NR_130785.1:n.361G>C, NP_067627.3:p.Pro785Arg, NP_740721.1:p.Pro225Arg, XP_011541691.1:p.Pro851Arg, XP_016864946.1:p.Pro269Arg, XP_047273122.1:p.Pro841Arg, NP_001359162.1:p.Pro851Arg

Select item 14818906996.

rs1481890699 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:114474360 (GRCh38)
5:113810057 (GRCh37)
Canonical SPDI:: NC_000005.10:114474359:A:G
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.114474360A>G, NC_000005.9:g.113810057A>G, NR_130785.1:n.1193T>C

Select item 14813437887.

rs1481343788 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:114475356 (GRCh38)
5:113811053 (GRCh37)
Canonical SPDI:: NC_000005.10:114475355:C:A,NC_000005.10:114475355:C:G
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000005.10:g.114475356C>A, NC_000005.10:g.114475356C>G, NC_000005.9:g.113811053C>A, NC_000005.9:g.113811053C>G, NR_130785.1:n.841G>T, NR_130785.1:n.841G>C

Select item 14807348128.

rs1480734812 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:114667643 (GRCh38)
5:114003340 (GRCh37)
Canonical SPDI:: NC_000005.10:114667642:G:A
Gene:: LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_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_000005.10:g.114667643G>A, NC_000005.9:g.114003340G>A, NR_130785.1:n.308C>T

Select item 14805475739.

rs1480547573 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:114773345 (GRCh38)
5:114109042 (GRCh37)
Canonical SPDI:: NC_000005.10:114773344:A:G
Gene:: LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant
HGVS:: NC_000005.10:g.114773345A>G, NC_000005.9:g.114109042A>G, NR_130785.1:n.69T>C

Select item 147879811010.

rs1478798110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:114472238 (GRCh38)
5:113807935 (GRCh37)
Canonical SPDI:: NC_000005.10:114472237:G:A
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000025/3 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000005.10:g.114472238G>A, NC_000005.9:g.113807935G>A, NR_130785.1:n.1362C>T

Select item 147762298311.

rs1477622983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:114667715 (GRCh38)
5:114003412 (GRCh37)
Canonical SPDI:: NC_000005.10:114667714:T:C,NC_000005.10:114667714:T:G
Gene:: LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.114667715T>C, NC_000005.10:g.114667715T>G, NC_000005.9:g.114003412T>C, NC_000005.9:g.114003412T>G, NR_130785.1:n.236A>G, NR_130785.1:n.236A>C

Select item 147653307412.

rs1476533074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 5:114668225 (GRCh38)
5:114003922 (GRCh37)
Canonical SPDI:: NC_000005.10:114668224:A:C
Gene:: LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.114668225A>C, NC_000005.9:g.114003922A>C, NR_130785.1:n.86T>G

Select item 147409375713.

rs1474093757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:114667641 (GRCh38)
5:114003338 (GRCh37)
Canonical SPDI:: NC_000005.10:114667640:G:A
Gene:: LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.114667641G>A, NC_000005.9:g.114003338G>A, NR_130785.1:n.310C>T

Select item 147158678914.

rs1471586789 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:114496121 (GRCh38)
5:113831818 (GRCh37)
Canonical SPDI:: NC_000005.10:114496120:C:G
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000005.10:g.114496121C>G, NC_000005.9:g.113831818C>G, NM_021614.4:c.2315C>G, NM_021614.3:c.1679C>G, NM_170775.3:c.635C>G, NM_170775.2:c.635C>G, XM_011543389.2:c.2513C>G, XM_011543389.1:c.2513C>G, NM_001278204.2:c.635C>G, NR_103458.2:n.1203C>G, NR_103458.1:n.1184C>G, XM_017009457.2:c.767C>G, XM_017009457.1:c.767C>G, XM_047417166.1:c.2483C>G, NM_001372233.1:c.2513C>G, NR_174097.1:n.1966C>G, NM_001278204.1:c.635C>G, NR_130785.1:n.400G>C, NP_067627.3:p.Ser772Cys, NP_740721.1:p.Ser212Cys, XP_011541691.1:p.Ser838Cys, XP_016864946.1:p.Ser256Cys, XP_047273122.1:p.Ser828Cys, NP_001359162.1:p.Ser838Cys

Select item 146700898615.

rs1467008986 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:114485688 (GRCh38)
5:113821385 (GRCh37)
Canonical SPDI:: NC_000005.10:114485687:A:G
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.114485688A>G, NC_000005.9:g.113821385A>G, NR_130785.1:n.570T>C

Select item 146434438016.

rs1464344380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:114475255 (GRCh38)
5:113810952 (GRCh37)
Canonical SPDI:: NC_000005.10:114475254:T:C
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000034/9 (TOPMED)
C=0.000035/1 (TOMMO)
C=0.000156/1 (1000Genomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000005.10:g.114475255T>C, NC_000005.9:g.113810952T>C, NR_130785.1:n.942A>G

Select item 146328225017.

rs1463282250 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 5:114485506 (GRCh38)
5:113821203 (GRCh37)
Canonical SPDI:: NC_000005.10:114485505:G:A,NC_000005.10:114485505:G:C,NC_000005.10:114485505:G:T
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.114485506G>A, NC_000005.10:g.114485506G>C, NC_000005.10:g.114485506G>T, NC_000005.9:g.113821203G>A, NC_000005.9:g.113821203G>C, NC_000005.9:g.113821203G>T, NR_130785.1:n.752C>T, NR_130785.1:n.752C>G, NR_130785.1:n.752C>A

Select item 146039395918.

rs1460393959 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:114470198 (GRCh38)
5:113805895 (GRCh37)
Canonical SPDI:: NC_000005.10:114470197:C:T
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.114470198C>T, NC_000005.9:g.113805895C>T, NR_130785.1:n.1459G>A

Select item 145975034819.

rs1459750348 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:114475151 (GRCh38)
5:113810849 (GRCh37)
Canonical SPDI:: NC_000005.10:114475151:AAAAA:AAAAAA
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAA=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.114475156dup, NC_000005.9:g.113810853dup, NR_130785.1:n.1045dup

Select item 145606511220.

rs1456065112 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:114475315 (GRCh38)
5:113811012 (GRCh37)
Canonical SPDI:: NC_000005.10:114475314:C:T
Gene:: KCNN2 (Varview), LOC101927078 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.114475315C>T, NC_000005.9:g.113811012C>T, NR_130785.1:n.882G>A