SNP Links for Nucleotide (Select 613410213) - SNP

Links from Nucleotide

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Select item 14910322331.

rs1491032233 has merged into rs782288060 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 21:44592357 (GRCh38)
21:46012238 (GRCh37)
Canonical SPDI:: NC_000021.9:44592355:CTC:C
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000061/1 (ALFA)
-=0.000009/1 (ExAC)
-=0.000055/3 (GnomAD)
HGVS:: NC_000021.9:g.44592357_44592358del, NW_004775435.1:g.95680_95681del, NG_033806.2:g.124215_124216del, NG_033806.1:g.124222_124223del, NC_000021.8:g.46012238_46012239del, NM_198688.3:c.128_129del, NM_198688.2:c.128_129del, NP_941961.3:p.Glu43fs

Select item 14908962662.

rs1490896266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44591546 (GRCh38)
21:46011427 (GRCh37)
Canonical SPDI:: NC_000021.9:44591545:C:G,NC_000021.9:44591545:C:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.44591546C>G, NC_000021.9:g.44591546C>T, NW_004775435.1:g.94869C>G, NW_004775435.1:g.94869C>T, NG_033806.2:g.125026G>C, NG_033806.2:g.125026G>A, NG_033806.1:g.125033G>C, NG_033806.1:g.125033G>A, NC_000021.8:g.46011427C>G, NC_000021.8:g.46011427C>T, NM_198688.3:c.939G>C, NM_198688.3:c.939G>A, NM_198688.2:c.939G>C, NM_198688.2:c.939G>A, NP_941961.3:p.Lys313Asn

Select item 14900794043.

rs1490079404 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 21:44591809 (GRCh38)
21:46011690 (GRCh37)
Canonical SPDI:: NC_000021.9:44591808:G:C,NC_000021.9:44591808:G:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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.44591809G>C, NC_000021.9:g.44591809G>T, NW_004775435.1:g.95132G>C, NW_004775435.1:g.95132G>T, NG_033806.2:g.124763C>G, NG_033806.2:g.124763C>A, NG_033806.1:g.124770C>G, NG_033806.1:g.124770C>A, NC_000021.8:g.46011690G>C, NC_000021.8:g.46011690G>T, NM_198688.3:c.676C>G, NM_198688.3:c.676C>A, NM_198688.2:c.676C>G, NM_198688.2:c.676C>A, NP_941961.3:p.Gln226Glu, NP_941961.3:p.Gln226Lys

Select item 14814201154.

rs1481420115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44591613 (GRCh38)
21:46011494 (GRCh37)
Canonical SPDI:: NC_000021.9:44591612:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.44591613G>A, NW_004775435.1:g.94936G>A, NG_033806.2:g.124959C>T, NG_033806.1:g.124966C>T, NC_000021.8:g.46011494G>A, NM_198688.3:c.872C>T, NM_198688.2:c.872C>T, NP_941961.3:p.Ala291Val

Select item 14713639105.

rs1471363910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44591284 (GRCh38)
21:46011165 (GRCh37)
Canonical SPDI:: NC_000021.9:44591283:C:A,NC_000021.9:44591283:C:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44591284C>A, NC_000021.9:g.44591284C>T, NW_004775435.1:g.94607C>A, NW_004775435.1:g.94607C>T, NG_033806.2:g.125288G>T, NG_033806.2:g.125288G>A, NG_033806.1:g.125295G>T, NG_033806.1:g.125295G>A, NC_000021.8:g.46011165C>A, NC_000021.8:g.46011165C>T, NM_198688.3:c.*103G>T, NM_198688.3:c.*103G>A, NM_198688.2:c.*103G>T, NM_198688.2:c.*103G>A

Select item 14654538876.

rs1465453887 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44591274 (GRCh38)
21:46011155 (GRCh37)
Canonical SPDI:: NC_000021.9:44591273:A:G
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44591274A>G, NW_004775435.1:g.94597A>G, NG_033806.2:g.125298T>C, NG_033806.1:g.125305T>C, NC_000021.8:g.46011155A>G, NM_198688.3:c.*113T>C, NM_198688.2:c.*113T>C

Select item 14555910197.

rs1455591019 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:44591407 (GRCh38)
21:46011288 (GRCh37)
Canonical SPDI:: NC_000021.9:44591406:C:G,NC_000021.9:44591406:C:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.44591407C>G, NC_000021.9:g.44591407C>T, NW_004775435.1:g.94730C>G, NW_004775435.1:g.94730C>T, NG_033806.2:g.125165G>C, NG_033806.2:g.125165G>A, NG_033806.1:g.125172G>C, NG_033806.1:g.125172G>A, NC_000021.8:g.46011288C>G, NC_000021.8:g.46011288C>T, NM_198688.3:c.1078G>C, NM_198688.3:c.1078G>A, NM_198688.2:c.1078G>C, NM_198688.2:c.1078G>A, NP_941961.3:p.Gly360Arg, NP_941961.3:p.Gly360Ser

Select item 14550228078.

rs1455022807 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44591731 (GRCh38)
21:46011612 (GRCh37)
Canonical SPDI:: NC_000021.9:44591730:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: stop_gained,coding_sequence_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.44591731G>A, NW_004775435.1:g.95054G>A, NG_033806.2:g.124841C>T, NG_033806.1:g.124848C>T, NC_000021.8:g.46011612G>A, NM_198688.3:c.754C>T, NM_198688.2:c.754C>T, NP_941961.3:p.Gln252Ter

Select item 14544301279.

rs1454430127 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 21:44591741 (GRCh38)
21:46011622 (GRCh37)
Canonical SPDI:: NC_000021.9:44591740:A:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000021.9:g.44591741A>T, NW_004775435.1:g.95064A>T, NG_033806.2:g.124831T>A, NG_033806.1:g.124838T>A, NC_000021.8:g.46011622A>T, NM_198688.3:c.744T>A, NM_198688.2:c.744T>A

Select item 145178966410.

rs1451789664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44592005 (GRCh38)
21:46011886 (GRCh37)
Canonical SPDI:: NC_000021.9:44592004:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_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)
HGVS:: NC_000021.9:g.44592005G>A, NW_004775435.1:g.95328G>A, NG_033806.2:g.124567C>T, NG_033806.1:g.124574C>T, NC_000021.8:g.46011886G>A, NM_198688.3:c.480C>T, NM_198688.2:c.480C>T

Select item 144574816211.

rs1445748162 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:44592033 (GRCh38)
21:46011914 (GRCh37)
Canonical SPDI:: NC_000021.9:44592032:C:T
Gene:: TSPEAR (Varview), KRTAP10-6 (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.44592033C>T, NW_004775435.1:g.95356C>T, NG_033806.2:g.124539G>A, NG_033806.1:g.124546G>A, NC_000021.8:g.46011914C>T, NM_198688.3:c.452G>A, NM_198688.2:c.452G>A, NP_941961.3:p.Cys151Tyr

Select item 143922003612.

rs1439220036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:44591311 (GRCh38)
21:46011192 (GRCh37)
Canonical SPDI:: NC_000021.9:44591310:G:C
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.44591311G>C, NW_004775435.1:g.94634G>C, NG_033806.2:g.125261C>G, NG_033806.1:g.125268C>G, NC_000021.8:g.46011192G>C, NM_198688.3:c.*76C>G, NM_198688.2:c.*76C>G

Select item 142857192913.

rs1428571929 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44592073 (GRCh38)
21:46011954 (GRCh37)
Canonical SPDI:: NC_000021.9:44592072:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000021.9:g.44592073G>A, NW_004775435.1:g.95396G>A, NG_033806.2:g.124499C>T, NG_033806.1:g.124506C>T, NC_000021.8:g.46011954G>A, NM_198688.3:c.412C>T, NM_198688.2:c.412C>T, NP_941961.3:p.Gln138Ter

Select item 142552419814.

rs1425524198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44592413 (GRCh38)
21:46012294 (GRCh37)
Canonical SPDI:: NC_000021.9:44592412:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.44592413G>A, NW_004775435.1:g.95736G>A, NG_033806.2:g.124159C>T, NG_033806.1:g.124166C>T, NC_000021.8:g.46012294G>A, NM_198688.3:c.72C>T, NM_198688.2:c.72C>T

Select item 142244818115.

rs1422448181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:44592399 (GRCh38)
21:46012280 (GRCh37)
Canonical SPDI:: NC_000021.9:44592398:G:T
Gene:: TSPEAR (Varview), KRTAP10-6 (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=0.000008/1 (GnomAD)
HGVS:: NC_000021.9:g.44592399G>T, NW_004775435.1:g.95722G>T, NG_033806.2:g.124173C>A, NG_033806.1:g.124180C>A, NC_000021.8:g.46012280G>T, NM_198688.3:c.86C>A, NM_198688.2:c.86C>A, NP_941961.3:p.Ser29Tyr

Select item 141052094416.

rs1410520944 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:44591410 (GRCh38)
21:46011291 (GRCh37)
Canonical SPDI:: NC_000021.9:44591409:A:G
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44591410A>G, NW_004775435.1:g.94733A>G, NG_033806.2:g.125162T>C, NG_033806.1:g.125169T>C, NC_000021.8:g.46011291A>G, NM_198688.3:c.1075T>C, NM_198688.2:c.1075T>C, NP_941961.3:p.Ser359Pro

Select item 140880031017.

rs1408800310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 21:44591665 (GRCh38)
21:46011546 (GRCh37)
Canonical SPDI:: NC_000021.9:44591664:C:A,NC_000021.9:44591664:C:T
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00007/3 (ALFA)
HGVS:: NC_000021.9:g.44591665C>A, NC_000021.9:g.44591665C>T, NW_004775435.1:g.94988C>A, NW_004775435.1:g.94988C>T, NG_033806.2:g.124907G>T, NG_033806.2:g.124907G>A, NG_033806.1:g.124914G>T, NG_033806.1:g.124914G>A, NC_000021.8:g.46011546C>A, NC_000021.8:g.46011546C>T, NM_198688.3:c.820G>T, NM_198688.3:c.820G>A, NM_198688.2:c.820G>T, NM_198688.2:c.820G>A, NP_941961.3:p.Val274Phe, NP_941961.3:p.Val274Ile

Select item 140840333818.

rs1408403338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:44592350 (GRCh38)
21:46012231 (GRCh37)
Canonical SPDI:: NC_000021.9:44592349:G:A,NC_000021.9:44592349:G:C
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.44592350G>A, NC_000021.9:g.44592350G>C, NW_004775435.1:g.95673G>A, NW_004775435.1:g.95673G>C, NG_033806.2:g.124222C>T, NG_033806.2:g.124222C>G, NG_033806.1:g.124229C>T, NG_033806.1:g.124229C>G, NC_000021.8:g.46012231G>A, NC_000021.8:g.46012231G>C, NM_198688.3:c.135C>T, NM_198688.3:c.135C>G, NM_198688.2:c.135C>T, NM_198688.2:c.135C>G

Select item 140520310819.

rs1405203108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 21:44592177 (GRCh38)
21:46012058 (GRCh37)
Canonical SPDI:: NC_000021.9:44592176:G:A,NC_000021.9:44592176:G:C
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
A=0.000106/2 (TOMMO)
HGVS:: NC_000021.9:g.44592177G>A, NC_000021.9:g.44592177G>C, NW_004775435.1:g.95500G>A, NW_004775435.1:g.95500G>C, NG_033806.2:g.124395C>T, NG_033806.2:g.124395C>G, NG_033806.1:g.124402C>T, NG_033806.1:g.124402C>G, NC_000021.8:g.46012058G>A, NC_000021.8:g.46012058G>C, NM_198688.3:c.308C>T, NM_198688.3:c.308C>G, NM_198688.2:c.308C>T, NM_198688.2:c.308C>G, NP_941961.3:p.Ser103Phe, NP_941961.3:p.Ser103Cys

Select item 140508714320.

rs1405087143 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:44591567 (GRCh38)
21:46011448 (GRCh37)
Canonical SPDI:: NC_000021.9:44591566:G:A
Gene:: TSPEAR (Varview), KRTAP10-6 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000021.9:g.44591567G>A, NW_004775435.1:g.94890G>A, NG_033806.2:g.125005C>T, NG_033806.1:g.125012C>T, NC_000021.8:g.46011448G>A, NM_198688.3:c.918C>T, NM_198688.2:c.918C>T

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