SNP Links for Gene (Select 81858) - SNP

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Select item 14915364031.

rs1491536403 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 8:144102275 (GRCh38)
8:145157178 (GRCh37)
Canonical SPDI:: NC_000008.11:144102273:TCT:T
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00002/1 (GnomAD)
-=0.00011/2 (TOMMO)
HGVS:: NC_000008.11:g.144102275_144102276del, NC_000008.10:g.145157178_145157179del

Select item 14913752922.

rs1491375292 has merged into rs11433813 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:144102286 (GRCh38)
8:145157189 (GRCh37)
Canonical SPDI:: NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:144102275:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.0256/95 (TWINSUK)
-=0.0267/103 (ALSPAC)
-=0.3379/1692 (1000Genomes)
HGVS:: NC_000008.11:g.144102286_144102291del, NC_000008.11:g.144102288_144102291del, NC_000008.11:g.144102289_144102291del, NC_000008.11:g.144102290_144102291del, NC_000008.11:g.144102291del, NC_000008.11:g.144102291dup, NC_000008.11:g.144102290_144102291dup, NC_000008.11:g.144102289_144102291dup, NC_000008.11:g.144102288_144102291dup, NC_000008.11:g.144102287_144102291dup, NC_000008.11:g.144102282_144102291dup, NC_000008.10:g.145157189_145157194del, NC_000008.10:g.145157191_145157194del, NC_000008.10:g.145157192_145157194del, NC_000008.10:g.145157193_145157194del, NC_000008.10:g.145157194del, NC_000008.10:g.145157194dup, NC_000008.10:g.145157193_145157194dup, NC_000008.10:g.145157192_145157194dup, NC_000008.10:g.145157191_145157194dup, NC_000008.10:g.145157190_145157194dup, NC_000008.10:g.145157185_145157194dup

Select item 14912683923.

rs1491268392 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:144102274 (GRCh38)
8:145157178 (GRCh37)
Canonical SPDI:: NC_000008.11:144102274:C:CC
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000035/2 (GnomAD)
HGVS:: NC_000008.11:g.144102275dup, NC_000008.10:g.145157178dup

Select item 14912316674.

rs1491231667 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 8:144102276 (GRCh38)
8:145157180 (GRCh37)
Canonical SPDI:: NC_000008.11:144102276:T:TCT
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.00026/1 (GnomAD)
HGVS:: NC_000008.11:g.144102277_144102278insCT, NC_000008.10:g.145157180_145157181insCT

Select item 14909142485.

rs1490914248 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 8:144098334 (GRCh38)
8:145153237 (GRCh37)
Canonical SPDI:: NC_000008.11:144098333:G:C
Gene:: SHARPIN (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144098334G>C, NC_000008.10:g.145153237G>C, NG_033872.1:g.8300G>C

Select item 14907803176.

rs1490780317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144099214 (GRCh38)
8:145154117 (GRCh37)
Canonical SPDI:: NC_000008.11:144099213:G:A
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.144099214G>A, NC_000008.10:g.145154117G>A, NG_033872.1:g.9180G>A

Select item 14903878147.

rs1490387814 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 8:144104091 (GRCh38)
8:145158994 (GRCh37)
Canonical SPDI:: NC_000008.11:144104090:C:A,NC_000008.11:144104090:C:G
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.144104091C>A, NC_000008.11:g.144104091C>G, NC_000008.10:g.145158994C>A, NC_000008.10:g.145158994C>G, NM_030974.3:c.-338G>T, NM_030974.3:c.-338G>C, NR_038270.1:n.145G>T, NR_038270.1:n.145G>C

Select item 14899185598.

rs1489918559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 8:144104842 (GRCh38)
8:145159745 (GRCh37)
Canonical SPDI:: NC_000008.11:144104841:C:A
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.144104842C>A, NC_000008.10:g.145159745C>A, NG_062560.1:g.177C>A, NM_032272.5:c.-61C>A, NM_032272.4:c.-61C>A

Select item 14898631609.

rs1489863160 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:144104322 (GRCh38)
8:145159225 (GRCh37)
Canonical SPDI:: NC_000008.11:144104321:G:T
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.144104322G>T, NC_000008.10:g.145159225G>T

Select item 148985231910.

rs1489852319 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144105218 (GRCh38)
8:145160122 (GRCh37)
Canonical SPDI:: NC_000008.11:144105218:GG:GGG
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.144105220dup, NC_000008.10:g.145160123dup

Select item 148982795011.

rs1489827950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 8:144103913 (GRCh38)
8:145158816 (GRCh37)
Canonical SPDI:: NC_000008.11:144103912:C:G
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00004/1 (TOMMO)
HGVS:: NC_000008.11:g.144103913C>G, NC_000008.10:g.145158816C>G, NM_030974.3:c.-160G>C, NR_038270.1:n.323G>C

Select item 148957407812.

rs1489574078 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 8:144101395 (GRCh38)
8:145156298 (GRCh37)
Canonical SPDI:: NC_000008.11:144101394:C:A,NC_000008.11:144101394:C:T
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000008.11:g.144101395C>A, NC_000008.11:g.144101395C>T, NC_000008.10:g.145156298C>A, NC_000008.10:g.145156298C>T

Select item 148917311913.

rs1489173119 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 8:144100845 (GRCh38)
8:145155749 (GRCh37)
Canonical SPDI:: NC_000008.11:144100845::C
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000008.11:g.144100845_144100846insC, NC_000008.10:g.145155748_145155749insC

Select item 148911946814.

rs1489119468 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:144106131 (GRCh38)
8:145161034 (GRCh37)
Canonical SPDI:: NC_000008.11:144106130:C:T
Gene:: MAF1 (Varview), WDR97 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,upstream_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_000008.11:g.144106131C>T, NC_000008.10:g.145161034C>T, NM_032272.5:c.268C>T, NM_032272.4:c.268C>T, NP_115648.2:p.Arg90Cys

Select item 148894468615.

rs1488944686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:144100775 (GRCh38)
8:145155679 (GRCh37)
Canonical SPDI:: NC_000008.11:144100775:GG:GGG
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.011667/7 (NorthernSweden)
HGVS:: NC_000008.11:g.144100777dup, NC_000008.10:g.145155680dup

Select item 148802203516.

rs1488022035 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144103604 (GRCh38)
8:145158507 (GRCh37)
Canonical SPDI:: NC_000008.11:144103603:A:G
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.144103604A>G, NC_000008.10:g.145158507A>G, NM_030974.4:c.150T>C, NM_030974.3:c.150T>C, XM_017013888.3:c.150T>C, XM_017013888.2:c.150T>C, XM_017013888.1:c.150T>C, NR_038270.2:n.170T>C, NR_038270.1:n.632T>C, XM_047422289.1:c.150T>C, XM_047422290.1:c.150T>C

Select item 148757659717.

rs1487576597 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 8:144098898 (GRCh38)
8:145153801 (GRCh37)
Canonical SPDI:: NC_000008.11:144098897:G:A,NC_000008.11:144098897:G:C
Gene:: SHARPIN (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000008.11:g.144098898G>A, NC_000008.11:g.144098898G>C, NC_000008.10:g.145153801G>A, NC_000008.10:g.145153801G>C, NG_033872.1:g.8864G>A, NG_033872.1:g.8864G>C, NM_030974.4:c.1144C>T, NM_030974.4:c.1144C>G, NM_030974.3:c.1144C>T, NM_030974.3:c.1144C>G, XM_017013888.3:c.*38C>T, XM_017013888.3:c.*38C>G, XM_017013888.2:c.*38C>T, XM_017013888.2:c.*38C>G, XM_017013888.1:c.*38C>T, XM_017013888.1:c.*38C>G, NR_038270.2:n.1039C>T, NR_038270.2:n.1039C>G, NR_038270.1:n.1501C>T, NR_038270.1:n.1501C>G, XM_047422289.1:c.1144C>T, XM_047422289.1:c.1144C>G, XM_047422290.1:c.1138C>T, XM_047422290.1:c.1138C>G, NP_112236.3:p.Leu382Phe, NP_112236.3:p.Leu382Val, XP_047278245.1:p.Leu382Phe, XP_047278245.1:p.Leu382Val, XP_047278246.1:p.Leu380Phe, XP_047278246.1:p.Leu380Val

Select item 148692000318.

rs1486920003 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 8:144101685 (GRCh38)
8:145156588 (GRCh37)
Canonical SPDI:: NC_000008.11:144101684:T:C,NC_000008.11:144101684:T:G
Gene:: SHARPIN (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
C=0.00016/1 (1000Genomes)
HGVS:: NC_000008.11:g.144101685T>C, NC_000008.11:g.144101685T>G, NC_000008.10:g.145156588T>C, NC_000008.10:g.145156588T>G

Select item 148688784819.

rs1486887848 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:144101020 (GRCh38)
8:145155923 (GRCh37)
Canonical SPDI:: NC_000008.11:144101019:A:G
Gene:: SHARPIN (Varview)
Functional Consequence:: 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_000008.11:g.144101020A>G, NC_000008.10:g.145155923A>G

Select item 148654687220.

rs1486546872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 8:144102831 (GRCh38)
8:145157734 (GRCh37)
Canonical SPDI:: NC_000008.11:144102830:G:A
Gene:: SHARPIN (Varview), MAF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
HGVS:: NC_000008.11:g.144102831G>A, NC_000008.10:g.145157734G>A

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