SNP Links for Nucleotide (Select 526253099) - SNP

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Select item 14915521701.

rs1491552170 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATAT [Show Flanks]
Chromosome:: 19:46762026 (GRCh38)
19:47265284 (GRCh37)
Canonical SPDI:: NC_000019.10:46762026:T:TATATAT
Validated:: by frequency,by alfa
MAF:: TATATAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.46762028AT[3], NC_000019.9:g.47265285AT[3], NG_008898.2:g.20983AT[3]

Select item 14915165742.

rs1491516574 has merged into rs149769237 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:46773484 (GRCh38)
19:47276741 (GRCh37)
Canonical SPDI:: NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:46773475:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.5/17 (GENOME_DK)
HGVS:: NC_000019.10:g.46773484_46773490del, NC_000019.10:g.46773486_46773490del, NC_000019.10:g.46773488_46773490del, NC_000019.10:g.46773489_46773490del, NC_000019.10:g.46773490del, NC_000019.10:g.46773490dup, NC_000019.10:g.46773489_46773490dup, NC_000019.10:g.46773488_46773490dup, NC_000019.10:g.46773487_46773490dup, NC_000019.9:g.47276741_47276747del, NC_000019.9:g.47276743_47276747del, NC_000019.9:g.47276745_47276747del, NC_000019.9:g.47276746_47276747del, NC_000019.9:g.47276747del, NC_000019.9:g.47276747dup, NC_000019.9:g.47276746_47276747dup, NC_000019.9:g.47276745_47276747dup, NC_000019.9:g.47276744_47276747dup, NG_008898.2:g.32439_32445del, NG_008898.2:g.32441_32445del, NG_008898.2:g.32443_32445del, NG_008898.2:g.32444_32445del, NG_008898.2:g.32445del, NG_008898.2:g.32445dup, NG_008898.2:g.32444_32445dup, NG_008898.2:g.32443_32445dup, NG_008898.2:g.32442_32445dup

Select item 14915025183.

rs1491502518 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGCCAACACC [Show Flanks]
Chromosome:: 19:46746494 (GRCh38)
19:47249752 (GRCh37)
Canonical SPDI:: NC_000019.10:46746494:CC:CCGCGCCAACACC
Gene:: STRN4 (Varview), FKRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCGCGCCAACACC=0.00017/2 (ALFA)
CCGCGCCAACA=0.00045/12 (GnomAD)
HGVS:: NC_000019.10:g.46746496_46746497insGCGCCAACACC, NC_000019.9:g.47249753_47249754insGCGCCAACACC, NG_008898.2:g.5451_5452insGCGCCAACACC

Select item 14914934124.

rs1491493412 has merged into rs397859500 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 19:46762028 (GRCh38)
19:47265285 (GRCh37)
Canonical SPDI:: NC_000019.10:46762025:TTTT:TT,NC_000019.10:46762025:TTTT:TTTTT
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.46762028_46762029del, NC_000019.10:g.46762029dup, NC_000019.9:g.47265285_47265286del, NC_000019.9:g.47265286dup, NG_008898.2:g.20983_20984del, NG_008898.2:g.20984dup

Select item 14914508925.

rs1491450892 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:46768040 (GRCh38)
19:47271297 (GRCh37)
Canonical SPDI:: NC_000019.10:46768039:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00008/1 (ALFA)
-=0.0004/7 (TOMMO)
HGVS:: NC_000019.10:g.46768040_46768041del, NC_000019.9:g.47271297_47271298del, NG_008898.2:g.26995_26996del

Select item 14913929476.

rs1491392947 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 19:46746493 (GRCh38)
19:47249750 (GRCh37)
Canonical SPDI:: NC_000019.10:46746490:ACAC:AC
Gene:: STRN4 (Varview), FKRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAC=0.0059/70 (ALFA)
-=0.00011/9 (GnomAD)
-=0.00082/23 (TOMMO)
HGVS:: NC_000019.10:g.46746491AC[1], NC_000019.9:g.47249748AC[1], NG_008898.2:g.5446AC[1]

Select item 14913569367.

rs1491356936 has merged into rs60580841 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:46768049 (GRCh38)
19:47271306 (GRCh37)
Canonical SPDI:: NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:46768040:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46768049_46768061del, NC_000019.10:g.46768051_46768061del, NC_000019.10:g.46768052_46768061del, NC_000019.10:g.46768053_46768061del, NC_000019.10:g.46768056_46768061del, NC_000019.10:g.46768057_46768061del, NC_000019.10:g.46768058_46768061del, NC_000019.10:g.46768059_46768061del, NC_000019.10:g.46768060_46768061del, NC_000019.10:g.46768061del, NC_000019.10:g.46768061dup, NC_000019.10:g.46768060_46768061dup, NC_000019.10:g.46768059_46768061dup, NC_000019.10:g.46768058_46768061dup, NC_000019.10:g.46768057_46768061dup, NC_000019.10:g.46768056_46768061dup, NC_000019.10:g.46768053_46768061dup, NC_000019.10:g.46768052_46768061dup, NC_000019.9:g.47271306_47271318del, NC_000019.9:g.47271308_47271318del, NC_000019.9:g.47271309_47271318del, NC_000019.9:g.47271310_47271318del, NC_000019.9:g.47271313_47271318del, NC_000019.9:g.47271314_47271318del, NC_000019.9:g.47271315_47271318del, NC_000019.9:g.47271316_47271318del, NC_000019.9:g.47271317_47271318del, NC_000019.9:g.47271318del, NC_000019.9:g.47271318dup, NC_000019.9:g.47271317_47271318dup, NC_000019.9:g.47271316_47271318dup, NC_000019.9:g.47271315_47271318dup, NC_000019.9:g.47271314_47271318dup, NC_000019.9:g.47271313_47271318dup, NC_000019.9:g.47271310_47271318dup, NC_000019.9:g.47271309_47271318dup, NG_008898.2:g.27004_27016del, NG_008898.2:g.27006_27016del, NG_008898.2:g.27007_27016del, NG_008898.2:g.27008_27016del, NG_008898.2:g.27011_27016del, NG_008898.2:g.27012_27016del, NG_008898.2:g.27013_27016del, NG_008898.2:g.27014_27016del, NG_008898.2:g.27015_27016del, NG_008898.2:g.27016del, NG_008898.2:g.27016dup, NG_008898.2:g.27015_27016dup, NG_008898.2:g.27014_27016dup, NG_008898.2:g.27013_27016dup, NG_008898.2:g.27012_27016dup, NG_008898.2:g.27011_27016dup, NG_008898.2:g.27008_27016dup, NG_008898.2:g.27007_27016dup

Select item 14912848988.

rs1491284898 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C,CC,CCC [Show Flanks]
Chromosome:: 19:46746491 (GRCh38)
19:47249749 (GRCh37)
Canonical SPDI:: NC_000019.10:46746491:C:CC,NC_000019.10:46746491:C:CCC,NC_000019.10:46746491:C:CCCC
Gene:: STRN4 (Varview), FKRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
CCC=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46746492dup, NC_000019.10:g.46746492_46746493insCC, NC_000019.10:g.46746492_46746493insCCC, NC_000019.9:g.47249749dup, NC_000019.9:g.47249749_47249750insCC, NC_000019.9:g.47249749_47249750insCCC, NG_008898.2:g.5447dup, NG_008898.2:g.5447_5448insCC, NG_008898.2:g.5447_5448insCCC

Select item 14912695289.

rs1491269528 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:46770189 (GRCh38)
19:47273446 (GRCh37)
Canonical SPDI:: NC_000019.10:46770187:TAT:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.46770189_46770190del, NC_000019.9:g.47273446_47273447del, NG_008898.2:g.29144_29145del

Select item 149126130810.

rs1491261308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>-,TCTC [Show Flanks]
Chromosome:: 19:46746504 (GRCh38)
19:47249761 (GRCh37)
Canonical SPDI:: NC_000019.10:46746502:CTC:C,NC_000019.10:46746502:CTC:CTCTC
Gene:: STRN4 (Varview), FKRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTCTC=0./0 (ALFA)
HGVS:: NC_000019.10:g.46746504_46746505del, NC_000019.10:g.46746504_46746505dup, NC_000019.9:g.47249761_47249762del, NC_000019.9:g.47249761_47249762dup, NG_008898.2:g.5459_5460del, NG_008898.2:g.5459_5460dup

Select item 149115848011.

rs1491158480 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:46762046 (GRCh38)
19:47265304 (GRCh37)
Canonical SPDI:: NC_000019.10:46762046::T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.0566/253 (ALFA)
T=0.056018/7502 (GnomAD)
T=0.061667/37 (NorthernSweden)
T=0.171739/2878 (TOMMO)
HGVS:: NC_000019.10:g.46762046_46762047insT, NC_000019.9:g.47265303_47265304insT, NG_008898.2:g.21001_21002insT

Select item 149103454212.

rs1491034542 has merged into rs78641737 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 19:46775928 (GRCh38)
19:47279185 (GRCh37)
Canonical SPDI:: NC_000019.10:46775917:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:46775917:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:46775917:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:46775917:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: SLC1A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0.00022/3 (ALFA)
-=0.16555/99 (NorthernSweden)
-=0.23684/9 (GENOME_DK)
HGVS:: NC_000019.10:g.46775928_46775931del, NC_000019.10:g.46775930_46775931del, NC_000019.10:g.46775931del, NC_000019.10:g.46775931dup, NC_000019.9:g.47279185_47279188del, NC_000019.9:g.47279187_47279188del, NC_000019.9:g.47279188del, NC_000019.9:g.47279188dup, NG_008898.2:g.34883_34886del, NG_008898.2:g.34885_34886del, NG_008898.2:g.34886del, NG_008898.2:g.34886dup

Select item 149102597913.

rs1491025979 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G [Show Flanks]
Chromosome:: 19:46746502 (GRCh38)
19:47249760 (GRCh37)
Canonical SPDI:: NC_000019.10:46746502::A,NC_000019.10:46746502::G
Gene:: STRN4 (Varview), FKRP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000019.10:g.46746502_46746503insA, NC_000019.10:g.46746502_46746503insG, NC_000019.9:g.47249759_47249760insA, NC_000019.9:g.47249759_47249760insG, NG_008898.2:g.5457_5458insA, NG_008898.2:g.5457_5458insG

Select item 149095406914.

rs1490954069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46777772 (GRCh38)
19:47281029 (GRCh37)
Canonical SPDI:: NC_000019.10:46777771:G:T
Gene:: SLC1A5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.46777772G>T, NC_000019.9:g.47281029G>T, NG_008898.2:g.36727G>T

Select item 149087114615.

rs1490871146 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:46757576 (GRCh38)
19:47260833 (GRCh37)
Canonical SPDI:: NC_000019.10:46757575:C:G,NC_000019.10:46757575:C:T
Gene:: FKRP (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.46757576C>G, NC_000019.10:g.46757576C>T, NC_000019.9:g.47260833C>G, NC_000019.9:g.47260833C>T, NG_008898.2:g.16531C>G, NG_008898.2:g.16531C>T, NM_024301.5:c.*638C>G, NM_024301.5:c.*638C>T, NM_024301.4:c.*638C>G, NM_024301.4:c.*638C>T, NM_001039885.3:c.*638C>G, NM_001039885.3:c.*638C>T, NM_001039885.2:c.*638C>G, NM_001039885.2:c.*638C>T, XM_005259249.5:c.*638C>G, XM_005259249.5:c.*638C>T, XM_005259249.4:c.*638C>G, XM_005259249.4:c.*638C>T, XM_005259249.3:c.*638C>G, XM_005259249.3:c.*638C>T, XM_005259249.2:c.*638C>G, XM_005259249.2:c.*638C>T, XM_005259249.1:c.*638C>G, XM_005259249.1:c.*638C>T, XM_017027297.3:c.*638C>G, XM_017027297.3:c.*638C>T, XM_017027297.2:c.*638C>G, XM_017027297.2:c.*638C>T, XM_017027297.1:c.*638C>G, XM_017027297.1:c.*638C>T, XM_005259247.3:c.*638C>G, XM_005259247.3:c.*638C>T, XM_005259247.2:c.*638C>G, XM_005259247.2:c.*638C>T, XM_005259247.1:c.*638C>G, XM_005259247.1:c.*638C>T, XM_005259248.3:c.*638C>G, XM_005259248.3:c.*638C>T, XM_005259248.2:c.*638C>G, XM_005259248.2:c.*638C>T, XM_005259248.1:c.*638C>G, XM_005259248.1:c.*638C>T, XM_011527306.3:c.*638C>G, XM_011527306.3:c.*638C>T, XM_011527306.2:c.*638C>G, XM_011527306.2:c.*638C>T, XM_011527306.1:c.*638C>G, XM_011527306.1:c.*638C>T, XM_024451707.2:c.*638C>G, XM_024451707.2:c.*638C>T, XM_024451707.1:c.*638C>G, XM_024451707.1:c.*638C>T, XM_011527307.2:c.*638C>G, XM_011527307.2:c.*638C>T, XM_011527307.1:c.*638C>G, XM_011527307.1:c.*638C>T, XM_047439424.1:c.*638C>G, XM_047439424.1:c.*638C>T, XM_047439425.1:c.*638C>G, XM_047439425.1:c.*638C>T, XM_047439421.1:c.*638C>G, XM_047439421.1:c.*638C>T, XM_047439422.1:c.*638C>G, XM_047439422.1:c.*638C>T, XM_047439427.1:c.*638C>G, XM_047439427.1:c.*638C>T, XM_047439426.1:c.*638C>G, XM_047439426.1:c.*638C>T, XM_047439423.1:c.*638C>G, XM_047439423.1:c.*638C>T, XM_047439428.1:c.*638C>G, XM_047439428.1:c.*638C>T, XM_047439429.1:c.*638C>G, XM_047439429.1:c.*638C>T

Select item 149072495916.

rs1490724959 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:46771689 (GRCh38)
19:47274947 (GRCh37)
Canonical SPDI:: NC_000019.10:46771689:A:AA
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.46771690dup, NC_000019.9:g.47274947dup, NG_008898.2:g.30645dup

Select item 149054176717.

rs1490541767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:46771232 (GRCh38)
19:47274489 (GRCh37)
Canonical SPDI:: NC_000019.10:46771231:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.46771232G>A, NC_000019.9:g.47274489G>A, NG_008898.2:g.30187G>A

Select item 149046678718.

rs1490466787 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTATTTAT [Show Flanks]
Chromosome:: 19:46754375 (GRCh38)
19:47257633 (GRCh37)
Canonical SPDI:: NC_000019.10:46754375:TATTTAT:TATTTATCTATTTAT
Gene:: FKRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATTTATCTATTTAT=0.00008/1 (ALFA)
TATTTATC=0.00008/5 (GnomAD)
HGVS:: NC_000019.10:g.46754382_46754383insCTATTTAT, NC_000019.9:g.47257639_47257640insCTATTTAT, NG_008898.2:g.13337_13338insCTATTTAT

Select item 149046380119.

rs1490463801 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:46749741 (GRCh38)
19:47252998 (GRCh37)
Canonical SPDI:: NC_000019.10:46749740:A:G
Gene:: FKRP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46749741A>G, NC_000019.9:g.47252998A>G, NG_008898.2:g.8696A>G

Select item 149044549620.

rs1490445496 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:46764164 (GRCh38)
19:47267421 (GRCh37)
Canonical SPDI:: NC_000019.10:46764163:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.46764164G>T, NC_000019.9:g.47267421G>T, NG_008898.2:g.23119G>T

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