SNP Links for Nucleotide (Select 38371743) - SNP

Links from Nucleotide

Items: 1 to 20 of 130

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Select item 14787227341.

rs1478722734 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACCTGGCAGGGGCTGGGCACACAGCAGGC>- [Show Flanks]
Chromosome:: 21:44654411 (GRCh38)
21:46074328 (GRCh37)
Canonical SPDI:: NC_000021.9:44654396:GGCACACAGCAGGCCACCTGGCAGGGGCTGGGCACACAGCAGGC:GGCACACAGCAGGC
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCACACAGCAGGC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.44654411_44654440del, NW_004775435.1:g.157734_157763del, NG_033806.2:g.62146_62175del, NG_033806.1:g.62153_62182del, NC_000021.8:g.46074328_46074357del, NM_198698.1:c.189_218del, NP_941971.1:p.Ser64_Pro73del

Select item 14664251702.

rs1466425170 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44654602 (GRCh38)
21:46074519 (GRCh37)
Canonical SPDI:: NC_000021.9:44654601:T:C
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44654602T>C, NW_004775435.1:g.157925T>C, NG_033806.2:g.61970A>G, NG_033806.1:g.61977A>G, NC_000021.8:g.46074519T>C, NM_198698.1:c.13A>G, NP_941971.1:p.Ser5Gly

Select item 14652418703.

rs1465241870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44654468 (GRCh38)
21:46074385 (GRCh37)
Canonical SPDI:: NC_000021.9:44654467:C:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44654468C>T, NW_004775435.1:g.157791C>T, NG_033806.2:g.62104G>A, NG_033806.1:g.62111G>A, NC_000021.8:g.46074385C>T, NM_198698.1:c.147G>A

Select item 14243602294.

rs1424360229 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:44654379 (GRCh38)
21:46074296 (GRCh37)
Canonical SPDI:: NC_000021.9:44654378:A:G,NC_000021.9:44654378:A:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44654379A>G, NC_000021.9:g.44654379A>T, NW_004775435.1:g.157702A>G, NW_004775435.1:g.157702A>T, NG_033806.2:g.62193T>C, NG_033806.2:g.62193T>A, NG_033806.1:g.62200T>C, NG_033806.1:g.62200T>A, NC_000021.8:g.46074296A>G, NC_000021.8:g.46074296A>T, NM_198698.1:c.236T>C, NM_198698.1:c.236T>A, NP_941971.1:p.Val79Ala, NP_941971.1:p.Val79Asp

Select item 14220949255.

rs1422094925 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44654242 (GRCh38)
21:46074159 (GRCh37)
Canonical SPDI:: NC_000021.9:44654241:C:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44654242C>T, NW_004775435.1:g.157565C>T, NG_033806.2:g.62330G>A, NG_033806.1:g.62337G>A, NC_000021.8:g.46074159C>T, NM_198698.1:c.*34G>A

Select item 14015359726.

rs1401535972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44654572 (GRCh38)
21:46074489 (GRCh37)
Canonical SPDI:: NC_000021.9:44654571:G:A
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44654572G>A, NW_004775435.1:g.157895G>A, NG_033806.2:g.62000C>T, NG_033806.1:g.62007C>T, NC_000021.8:g.46074489G>A, NM_198698.1:c.43C>T, NP_941971.1:p.Pro15Ser

Select item 13879048877.

rs1387904887 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 21:44654453 (GRCh38)
21:46074370 (GRCh37)
Canonical SPDI:: NC_000021.9:44654452:GG:G
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44654454del, NW_004775435.1:g.157777del, NG_033806.2:g.62119del, NG_033806.1:g.62126del, NC_000021.8:g.46074371del, NM_198698.1:c.162del, NP_941971.1:p.Cys55fs

Select item 13771871138.

rs1377187113 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44654478 (GRCh38)
21:46074395 (GRCh37)
Canonical SPDI:: NC_000021.9:44654477:C:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_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_000021.9:g.44654478C>T, NW_004775435.1:g.157801C>T, NG_033806.2:g.62094G>A, NG_033806.1:g.62101G>A, NC_000021.8:g.46074395C>T, NM_198698.1:c.137G>A, NP_941971.1:p.Cys46Tyr

Select item 13706155299.

rs1370615529 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44654347 (GRCh38)
21:46074264 (GRCh37)
Canonical SPDI:: NC_000021.9:44654346:C:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44654347C>T, NW_004775435.1:g.157670C>T, NG_033806.2:g.62225G>A, NG_033806.1:g.62232G>A, NC_000021.8:g.46074264C>T, NM_198698.1:c.268G>A, NP_941971.1:p.Gly90Arg

Select item 136425873210.

rs1364258732 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44654318 (GRCh38)
21:46074235 (GRCh37)
Canonical SPDI:: NC_000021.9:44654317:C:G,NC_000021.9:44654317:C:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44654318C>G, NC_000021.9:g.44654318C>T, NW_004775435.1:g.157641C>G, NW_004775435.1:g.157641C>T, NG_033806.2:g.62254G>C, NG_033806.2:g.62254G>A, NG_033806.1:g.62261G>C, NG_033806.1:g.62261G>A, NC_000021.8:g.46074235C>G, NC_000021.8:g.46074235C>T, NM_198698.1:c.297G>C, NM_198698.1:c.297G>A

Select item 135482774611.

rs1354827746 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44654646 (GRCh38)
21:46074563 (GRCh37)
Canonical SPDI:: NC_000021.9:44654645:G:A
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: 5_prime_UTR_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.44654646G>A, NW_004775435.1:g.157969G>A, NG_033806.2:g.61926C>T, NG_033806.1:g.61933C>T, NC_000021.8:g.46074563G>A, NM_198698.1:c.-32C>T

Select item 133922821712.

rs1339228217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44654300 (GRCh38)
21:46074217 (GRCh37)
Canonical SPDI:: NC_000021.9:44654299:G:A
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_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.44654300G>A, NW_004775435.1:g.157623G>A, NG_033806.2:g.62272C>T, NG_033806.1:g.62279C>T, NC_000021.8:g.46074217G>A, NM_198698.1:c.315C>T

Select item 133518158813.

rs1335181588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:44654659 (GRCh38)
21:46074576 (GRCh37)
Canonical SPDI:: NC_000021.9:44654658:T:G
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44654659T>G, NW_004775435.1:g.157982T>G, NG_033806.2:g.61913A>C, NG_033806.1:g.61920A>C, NC_000021.8:g.46074576T>G, NM_198698.1:c.-45A>C

Select item 131196022514.

rs1311960225 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44654647 (GRCh38)
21:46074564 (GRCh37)
Canonical SPDI:: NC_000021.9:44654646:A:G
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000017/2 (GnomAD_exomes)
G=0.000057/8 (GnomAD)
G=0.000091/24 (TOPMED)
HGVS:: NC_000021.9:g.44654647A>G, NW_004775435.1:g.157970A>G, NG_033806.2:g.61925T>C, NG_033806.1:g.61932T>C, NC_000021.8:g.46074564A>G, NM_198698.1:c.-33T>C

Select item 129830555915.

rs1298305559 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44654311 (GRCh38)
21:46074228 (GRCh37)
Canonical SPDI:: NC_000021.9:44654310:T:C
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44654311T>C, NW_004775435.1:g.157634T>C, NG_033806.2:g.62261A>G, NG_033806.1:g.62268A>G, NC_000021.8:g.46074228T>C, NM_198698.1:c.304A>G, NP_941971.1:p.Arg102Gly

Select item 129352929516.

rs1293529295 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44654335 (GRCh38)
21:46074252 (GRCh37)
Canonical SPDI:: NC_000021.9:44654334:G:T
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44654335G>T, NW_004775435.1:g.157658G>T, NG_033806.2:g.62237C>A, NG_033806.1:g.62244C>A, NC_000021.8:g.46074252G>T, NM_198698.1:c.280C>A, NP_941971.1:p.Pro94Thr

Select item 121249230317.

rs1212492303 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44654294 (GRCh38)
21:46074211 (GRCh37)
Canonical SPDI:: NC_000021.9:44654293:G:C
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000028/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44654294G>C, NW_004775435.1:g.157617G>C, NG_033806.2:g.62278C>G, NG_033806.1:g.62285C>G, NC_000021.8:g.46074211G>C, NM_198698.1:c.321C>G, NP_941971.1:p.Ser107Arg

Select item 120019928318.

rs1200199283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44654532 (GRCh38)
21:46074449 (GRCh37)
Canonical SPDI:: NC_000021.9:44654531:G:A
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44654532G>A, NW_004775435.1:g.157855G>A, NG_033806.2:g.62040C>T, NG_033806.1:g.62047C>T, NC_000021.8:g.46074449G>A, NM_198698.1:c.83C>T, NP_941971.1:p.Pro28Leu

Select item 118007668719.

rs1180076687 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 21:44654632 (GRCh38)
21:46074549 (GRCh37)
Canonical SPDI:: NC_000021.9:44654631:T:A,NC_000021.9:44654631:T:G
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
G=0.001487/42 (TOMMO)
T=0.5/1 (Siberian)
HGVS:: NC_000021.9:g.44654632T>A, NC_000021.9:g.44654632T>G, NW_004775435.1:g.157955T>A, NW_004775435.1:g.157955T>G, NG_033806.2:g.61940A>T, NG_033806.2:g.61940A>C, NG_033806.1:g.61947A>T, NG_033806.1:g.61947A>C, NC_000021.8:g.46074549T>A, NC_000021.8:g.46074549T>G, NM_198698.1:c.-18A>T, NM_198698.1:c.-18A>C

Select item 117655143820.

rs1176551438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:44654518 (GRCh38)
21:46074435 (GRCh37)
Canonical SPDI:: NC_000021.9:44654517:T:C
Gene:: TSPEAR (Varview), KRTAP12-4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000021.9:g.44654518T>C, NW_004775435.1:g.157841T>C, NG_033806.2:g.62054A>G, NG_033806.1:g.62061A>G, NC_000021.8:g.46074435T>C, NM_198698.1:c.97A>G, NP_941971.1:p.Thr33Ala

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