SNP Links for Nucleotide (Select 148727344) - SNP

Links from Nucleotide

Items: 1 to 20 of 137

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Select item 14832330151.

rs1483233015 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 21:44657950 (GRCh38)
21:46077867 (GRCh37)
Canonical SPDI:: NC_000021.9:44657943:TCCTCCTCC:TCCTCC
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCCTCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44657944TCC[2], NW_004775435.1:g.161267TCC[2], NG_033806.2:g.58620GGA[2], NG_033806.1:g.58627GGA[2], NC_000021.8:g.46077861TCC[2], NM_198697.2:c.-36TCC[2]

Select item 14828355662.

rs1482835566 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44658049 (GRCh38)
21:46077966 (GRCh37)
Canonical SPDI:: NC_000021.9:44658048:T:C
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000036/5 (GnomAD)
C=0.000057/15 (TOPMED)
HGVS:: NC_000021.9:g.44658049T>C, NW_004775435.1:g.161372T>C, NG_033806.2:g.58523A>G, NG_033806.1:g.58530A>G, NC_000021.8:g.46077966T>C, NM_198697.2:c.70T>C, NP_941970.2:p.Cys24Arg

Select item 14823903203.

rs1482390320 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 21:44658325 (GRCh38)
21:46078242 (GRCh37)
Canonical SPDI:: NC_000021.9:44658324:T:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44658325T>A, NW_004775435.1:g.161648T>A, NG_033806.2:g.58247A>T, NG_033806.1:g.58254A>T, NC_000021.8:g.46078242T>A, NM_198697.2:c.*55T>A

Select item 14658934764.

rs1465893476 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658137 (GRCh38)
21:46078054 (GRCh37)
Canonical SPDI:: NC_000021.9:44658136:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658137C>T, NW_004775435.1:g.161460C>T, NG_033806.2:g.58435G>A, NG_033806.1:g.58442G>A, NC_000021.8:g.46078054C>T, NM_198697.2:c.158C>T, NP_941970.2:p.Ser53Phe

Select item 14589423715.

rs1458942371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658099 (GRCh38)
21:46078016 (GRCh37)
Canonical SPDI:: NC_000021.9:44658098:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658099C>T, NW_004775435.1:g.161422C>T, NG_033806.2:g.58473G>A, NG_033806.1:g.58480G>A, NC_000021.8:g.46078016C>T, NM_198697.2:c.120C>T

Select item 14333188296.

rs1433318829 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658312 (GRCh38)
21:46078229 (GRCh37)
Canonical SPDI:: NC_000021.9:44658311:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000021.9:g.44658312C>T, NW_004775435.1:g.161635C>T, NG_033806.2:g.58260G>A, NG_033806.1:g.58267G>A, NC_000021.8:g.46078229C>T, NM_198697.2:c.*42C>T

Select item 14289076827.

rs1428907682 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44658088 (GRCh38)
21:46078005 (GRCh37)
Canonical SPDI:: NC_000021.9:44658087:C:A,NC_000021.9:44658087:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000021.9:g.44658088C>A, NC_000021.9:g.44658088C>T, NW_004775435.1:g.161411C>A, NW_004775435.1:g.161411C>T, NG_033806.2:g.58484G>T, NG_033806.2:g.58484G>A, NG_033806.1:g.58491G>T, NG_033806.1:g.58491G>A, NC_000021.8:g.46078005C>A, NC_000021.8:g.46078005C>T, NM_198697.2:c.109C>A, NM_198697.2:c.109C>T, NP_941970.2:p.Pro37Thr, NP_941970.2:p.Pro37Ser

Select item 14141828018.

rs1414182801 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44658043 (GRCh38)
21:46077960 (GRCh37)
Canonical SPDI:: NC_000021.9:44658042:G:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658043G>T, NW_004775435.1:g.161366G>T, NG_033806.2:g.58529C>A, NG_033806.1:g.58536C>A, NC_000021.8:g.46077960G>T, NM_198697.2:c.64G>T, NP_941970.2:p.Ala22Ser

Select item 13879181819.

rs1387918181 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658090 (GRCh38)
21:46078007 (GRCh37)
Canonical SPDI:: NC_000021.9:44658089:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
T=0.000019/5 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000021.9:g.44658090C>T, NW_004775435.1:g.161413C>T, NG_033806.2:g.58482G>A, NG_033806.1:g.58489G>A, NC_000021.8:g.46078007C>T, NM_198697.2:c.111C>T

Select item 138039084010.

rs1380390840 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658084 (GRCh38)
21:46078001 (GRCh37)
Canonical SPDI:: NC_000021.9:44658083:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44658084C>T, NW_004775435.1:g.161407C>T, NG_033806.2:g.58488G>A, NG_033806.1:g.58495G>A, NC_000021.8:g.46078001C>T, NM_198697.2:c.105C>T

Select item 136889493011.

rs1368894930 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44658182 (GRCh38)
21:46078099 (GRCh37)
Canonical SPDI:: NC_000021.9:44658181:C:G,NC_000021.9:44658181:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44658182C>G, NC_000021.9:g.44658182C>T, NW_004775435.1:g.161505C>G, NW_004775435.1:g.161505C>T, NG_033806.2:g.58390G>C, NG_033806.2:g.58390G>A, NG_033806.1:g.58397G>C, NG_033806.1:g.58397G>A, NC_000021.8:g.46078099C>G, NC_000021.8:g.46078099C>T, NM_198697.2:c.203C>G, NM_198697.2:c.203C>T, NP_941970.2:p.Pro68Arg, NP_941970.2:p.Pro68Leu

Select item 135264215112.

rs1352642151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 21:44658009 (GRCh38)
21:46077926 (GRCh37)
Canonical SPDI:: NC_000021.9:44658008:C:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658009C>A, NW_004775435.1:g.161332C>A, NG_033806.2:g.58563G>T, NG_033806.1:g.58570G>T, NC_000021.8:g.46077926C>A, NM_198697.2:c.30C>A, NP_941970.2:p.Cys10Ter

Select item 134195130913.

rs1341951309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44658243 (GRCh38)
21:46078160 (GRCh37)
Canonical SPDI:: NC_000021.9:44658242:C:A,NC_000021.9:44658242:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000023/6 (TOPMED)
HGVS:: NC_000021.9:g.44658243C>A, NC_000021.9:g.44658243C>T, NW_004775435.1:g.161566C>A, NW_004775435.1:g.161566C>T, NG_033806.2:g.58329G>T, NG_033806.2:g.58329G>A, NG_033806.1:g.58336G>T, NG_033806.1:g.58336G>A, NC_000021.8:g.46078160C>A, NC_000021.8:g.46078160C>T, NM_198697.2:c.264C>A, NM_198697.2:c.264C>T

Select item 131405308514.

rs1314053085 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44658333 (GRCh38)
21:46078250 (GRCh37)
Canonical SPDI:: NC_000021.9:44658332:A:G
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.44658333A>G, NW_004775435.1:g.161656A>G, NG_033806.2:g.58239T>C, NG_033806.1:g.58246T>C, NC_000021.8:g.46078250A>G, NM_198697.2:c.*63A>G

Select item 131143603715.

rs1311436037 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658012 (GRCh38)
21:46077929 (GRCh37)
Canonical SPDI:: NC_000021.9:44658011:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,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_000021.9:g.44658012G>A, NW_004775435.1:g.161335G>A, NG_033806.2:g.58560C>T, NG_033806.1:g.58567C>T, NC_000021.8:g.46077929G>A, NM_198697.2:c.33G>A

Select item 130067215216.

rs1300672152 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658269 (GRCh38)
21:46078186 (GRCh37)
Canonical SPDI:: NC_000021.9:44658268:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: terminator_codon_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658269G>A, NW_004775435.1:g.161592G>A, NG_033806.2:g.58303C>T, NG_033806.1:g.58310C>T, NC_000021.8:g.46078186G>A, NM_198697.2:c.290G>A

Select item 129867839217.

rs1298678392 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658162 (GRCh38)
21:46078079 (GRCh37)
Canonical SPDI:: NC_000021.9:44658161:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44658162G>A, NW_004775435.1:g.161485G>A, NG_033806.2:g.58410C>T, NG_033806.1:g.58417C>T, NC_000021.8:g.46078079G>A, NM_198697.2:c.183G>A

Select item 128612779418.

rs1286127794 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44658087 (GRCh38)
21:46078004 (GRCh37)
Canonical SPDI:: NC_000021.9:44658086:G:A
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000042/11 (TOPMED)
HGVS:: NC_000021.9:g.44658087G>A, NW_004775435.1:g.161410G>A, NG_033806.2:g.58485C>T, NG_033806.1:g.58492C>T, NC_000021.8:g.46078004G>A, NM_198697.2:c.108G>A, NP_941970.2:p.Met36Ile

Select item 128506223319.

rs1285062233 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658337 (GRCh38)
21:46078254 (GRCh37)
Canonical SPDI:: NC_000021.9:44658336:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000021.9:g.44658337C>T, NW_004775435.1:g.161660C>T, NG_033806.2:g.58235G>A, NG_033806.1:g.58242G>A, NC_000021.8:g.46078254C>T, NM_198697.2:c.*67C>T

Select item 127555447220.

rs1275554472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44658246 (GRCh38)
21:46078163 (GRCh37)
Canonical SPDI:: NC_000021.9:44658245:C:T
Gene:: TSPEAR (Varview), KRTAP12-3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44658246C>T, NW_004775435.1:g.161569C>T, NG_033806.2:g.58326G>A, NG_033806.1:g.58333G>A, NC_000021.8:g.46078163C>T, NM_198697.2:c.267C>T

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