SNP Links for Gene (Select 56253) - SNP

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Select item 14915889711.

rs1491588971 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 11:122861421 (GRCh38)
11:122732130 (GRCh37)
Canonical SPDI:: NC_000011.10:122861421::A,NC_000011.10:122861421::ATA,NC_000011.10:122861421::ATATA,NC_000011.10:122861421::ATATATA,NC_000011.10:122861421::ATATATATA,NC_000011.10:122861421::ATATATATATA,NC_000011.10:122861421::ATATATATATATA,NC_000011.10:122861421::ATATATATATATATATATATATATATATA
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
ATATATATATA=0.000004/1 (TOPMED)
ATATATATATATATATATATATATATATA=0.000044/1 (GnomAD)
A=0.00056/5 (TOMMO)
A=0.002703/1 (NorthernSweden)
HGVS:: NC_000011.10:g.122861421_122861422insA, NC_000011.10:g.122861421_122861422insATA, NC_000011.10:g.122861421_122861422insATATA, NC_000011.10:g.122861421_122861422insATATATA, NC_000011.10:g.122861421_122861422insATATATATA, NC_000011.10:g.122861421_122861422insATATATATATA, NC_000011.10:g.122861421_122861422insATATATATATATA, NC_000011.10:g.122861421_122861422insATATATATATATATATATATATATATATA, NC_000011.9:g.122732129_122732130insA, NC_000011.9:g.122732129_122732130insATA, NC_000011.9:g.122732129_122732130insATATA, NC_000011.9:g.122732129_122732130insATATATA, NC_000011.9:g.122732129_122732130insATATATATA, NC_000011.9:g.122732129_122732130insATATATATATA, NC_000011.9:g.122732129_122732130insATATATATATATA, NC_000011.9:g.122732129_122732130insATATATATATATATATATATATATATATA

Select item 14915773772.

rs1491577377 has merged into rs57365669 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:122867365 (GRCh38)
11:122738073 (GRCh37)
Canonical SPDI:: NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000011.10:122867354:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
AA=0./0 (GENOME_DK)
AA=0.0813/47 (NorthernSweden)
-=0.1242/19 (1000Genomes)
HGVS:: NC_000011.10:g.122867365_122867370del, NC_000011.10:g.122867366_122867370del, NC_000011.10:g.122867367_122867370del, NC_000011.10:g.122867368_122867370del, NC_000011.10:g.122867369_122867370del, NC_000011.10:g.122867370del, NC_000011.10:g.122867370dup, NC_000011.10:g.122867364_122867370dup, NC_000011.9:g.122738073_122738078del, NC_000011.9:g.122738074_122738078del, NC_000011.9:g.122738075_122738078del, NC_000011.9:g.122738076_122738078del, NC_000011.9:g.122738077_122738078del, NC_000011.9:g.122738078del, NC_000011.9:g.122738078dup, NC_000011.9:g.122738072_122738078dup

Select item 14915437993.

rs1491543799 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:122867354 (GRCh38)
11:122738062 (GRCh37)
Canonical SPDI:: NC_000011.10:122867353:CA:
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000011.10:g.122867354_122867355del, NC_000011.9:g.122738062_122738063del

Select item 14913443634.

rs1491344363 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT [Show Flanks]
Chromosome:: 11:122868186 (GRCh38)
11:122738895 (GRCh37)
Canonical SPDI:: NC_000011.10:122868186:T:TGT,NC_000011.10:122868186:T:TGTGT,NC_000011.10:122868186:T:TGTGTGT,NC_000011.10:122868186:T:TGTGTGTGT,NC_000011.10:122868186:T:TGTGTGTGTGT
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGT=0./0 (ALFA)
TGTGTGTG=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.122868187_122868188insGT, NC_000011.10:g.122868187_122868188insGTGT, NC_000011.10:g.122868188GT[3], NC_000011.10:g.122868188GT[4], NC_000011.10:g.122868188GT[5], NC_000011.9:g.122738895_122738896insGT, NC_000011.9:g.122738895_122738896insGTGT, NC_000011.9:g.122738896GT[3], NC_000011.9:g.122738896GT[4], NC_000011.9:g.122738896GT[5]

Select item 14913028675.

rs1491302867 has merged into rs66619023 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:122861436 (GRCh38)
11:122732144 (GRCh37)
Canonical SPDI:: NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:122861420:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000011.10:g.122861436_122861450del, NC_000011.10:g.122861437_122861450del, NC_000011.10:g.122861438_122861450del, NC_000011.10:g.122861439_122861450del, NC_000011.10:g.122861440_122861450del, NC_000011.10:g.122861441_122861450del, NC_000011.10:g.122861442_122861450del, NC_000011.10:g.122861443_122861450del, NC_000011.10:g.122861444_122861450del, NC_000011.10:g.122861445_122861450del, NC_000011.10:g.122861446_122861450del, NC_000011.10:g.122861447_122861450del, NC_000011.10:g.122861448_122861450del, NC_000011.10:g.122861449_122861450del, NC_000011.10:g.122861450del, NC_000011.10:g.122861450dup, NC_000011.10:g.122861449_122861450dup, NC_000011.10:g.122861448_122861450dup, NC_000011.10:g.122861447_122861450dup, NC_000011.10:g.122861446_122861450dup, NC_000011.10:g.122861445_122861450dup, NC_000011.10:g.122861444_122861450dup, NC_000011.10:g.122861443_122861450dup, NC_000011.10:g.122861442_122861450dup, NC_000011.10:g.122861438_122861450dup, NC_000011.10:g.122861435_122861450dup, NC_000011.9:g.122732144_122732158del, NC_000011.9:g.122732145_122732158del, NC_000011.9:g.122732146_122732158del, NC_000011.9:g.122732147_122732158del, NC_000011.9:g.122732148_122732158del, NC_000011.9:g.122732149_122732158del, NC_000011.9:g.122732150_122732158del, NC_000011.9:g.122732151_122732158del, NC_000011.9:g.122732152_122732158del, NC_000011.9:g.122732153_122732158del, NC_000011.9:g.122732154_122732158del, NC_000011.9:g.122732155_122732158del, NC_000011.9:g.122732156_122732158del, NC_000011.9:g.122732157_122732158del, NC_000011.9:g.122732158del, NC_000011.9:g.122732158dup, NC_000011.9:g.122732157_122732158dup, NC_000011.9:g.122732156_122732158dup, NC_000011.9:g.122732155_122732158dup, NC_000011.9:g.122732154_122732158dup, NC_000011.9:g.122732153_122732158dup, NC_000011.9:g.122732152_122732158dup, NC_000011.9:g.122732151_122732158dup, NC_000011.9:g.122732150_122732158dup, NC_000011.9:g.122732146_122732158dup, NC_000011.9:g.122732143_122732158dup

Select item 14913011826.

rs1491301182 has merged into rs1272595875 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 11:122868188 (GRCh38)
11:122738896 (GRCh37)
Canonical SPDI:: NC_000011.10:122868185:ATAT:AT,NC_000011.10:122868185:ATAT:ATATAT
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.00025/4 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.00187/12 (1000Genomes)
HGVS:: NC_000011.10:g.122868186AT[1], NC_000011.10:g.122868186AT[3], NC_000011.9:g.122738894AT[1], NC_000011.9:g.122738894AT[3]

Select item 14912181057.

rs1491218105 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TACACACA,TATACA,TATACACA [Show Flanks]
Chromosome:: 11:122861361 (GRCh38)
11:122732070 (GRCh37)
Canonical SPDI:: NC_000011.10:122861361:A:ATACA,NC_000011.10:122861361:A:ATACACA,NC_000011.10:122861361:A:ATACACACA,NC_000011.10:122861361:A:ATATACA,NC_000011.10:122861361:A:ATATACACA
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
ATAC=0.00096/16 (TOMMO)
HGVS:: NC_000011.10:g.122861362_122861363insTACA, NC_000011.10:g.122861362_122861363insTACACA, NC_000011.10:g.122861362_122861363insTACACACA, NC_000011.10:g.122861362AT[2]ACA[1], NC_000011.10:g.122861362AT[2]AC[2]A[1], NC_000011.9:g.122732070_122732071insTACA, NC_000011.9:g.122732070_122732071insTACACA, NC_000011.9:g.122732070_122732071insTACACACA, NC_000011.9:g.122732070AT[2]ACA[1], NC_000011.9:g.122732070AT[2]AC[2]A[1]

Select item 14912174038.

rs1491217403 has merged into rs5795353 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA,TATATATATATA [Show Flanks]
Chromosome:: 11:122861359 (GRCh38)
11:122732067 (GRCh37)
Canonical SPDI:: NC_000011.10:122861348:TATATATATATATA:TATATATATA,NC_000011.10:122861348:TATATATATATATA:TATATATATATA,NC_000011.10:122861348:TATATATATATATA:TATATATATATATATA,NC_000011.10:122861348:TATATATATATATA:TATATATATATATATATA,NC_000011.10:122861348:TATATATATATATA:TATATATATATATATATATA,NC_000011.10:122861348:TATATATATATATA:TATATATATATATATATATATA
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATATA=0./0 (ALFA)
TA=0.4343/2175 (1000Genomes)
HGVS:: NC_000011.10:g.122861349TA[5], NC_000011.10:g.122861349TA[6], NC_000011.10:g.122861349TA[8], NC_000011.10:g.122861349TA[9], NC_000011.10:g.122861349TA[10], NC_000011.10:g.122861349TA[11], NC_000011.9:g.122732057TA[5], NC_000011.9:g.122732057TA[6], NC_000011.9:g.122732057TA[8], NC_000011.9:g.122732057TA[9], NC_000011.9:g.122732057TA[10], NC_000011.9:g.122732057TA[11]

Select item 14911222069.

rs1491122206 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 11:122861349 (GRCh38)
11:122732058 (GRCh37)
Canonical SPDI:: NC_000011.10:122861349:A:ACA
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: AC=0.00005/1 (GnomAD)
HGVS:: NC_000011.10:g.122861350_122861351insCA, NC_000011.9:g.122732058_122732059insCA

Select item 149105160010.

rs1491051600 has merged into rs1294206737 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA [Show Flanks]
Chromosome:: 11:122863351 (GRCh38)
11:122734059 (GRCh37)
Canonical SPDI:: NC_000011.10:122863349:AAAAA:A,NC_000011.10:122863349:AAAAA:AAA,NC_000011.10:122863349:AAAAA:AAAA,NC_000011.10:122863349:AAAAA:AAAAAA
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00503/3 (NorthernSweden)
-=0.04303/1723 (GnomAD)
HGVS:: NC_000011.10:g.122863351_122863354del, NC_000011.10:g.122863353_122863354del, NC_000011.10:g.122863354del, NC_000011.10:g.122863354dup, NC_000011.9:g.122734059_122734062del, NC_000011.9:g.122734061_122734062del, NC_000011.9:g.122734062del, NC_000011.9:g.122734062dup

Select item 149104425111.

rs1491044251 has merged into rs71057303 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>-,CACA [Show Flanks]
Chromosome:: 11:122861375 (GRCh38)
11:122732083 (GRCh37)
Canonical SPDI:: NC_000011.10:122861361:ACACACACACACACA:ACACACACACACA,NC_000011.10:122861361:ACACACACACACACA:ACACACACACACACACA
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000011.10:g.122861363CA[6], NC_000011.10:g.122861363CA[8], NC_000011.9:g.122732071CA[6], NC_000011.9:g.122732071CA[8]

Select item 149102945812.

rs1491029458 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 11:122863337 (GRCh38)
11:122734045 (GRCh37)
Canonical SPDI:: NC_000011.10:122863335:AGA:A,NC_000011.10:122863335:AGA:AGAGA
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000011.10:g.122863337_122863338del, NC_000011.10:g.122863337_122863338dup, NC_000011.9:g.122734045_122734046del, NC_000011.9:g.122734045_122734046dup

Select item 149102285613.

rs1491022856 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 11:122841418 (GRCh38)
11:122712126 (GRCh37)
Canonical SPDI:: NC_000011.10:122841417:TG:
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.122841418_122841419del, NC_000011.9:g.122712126_122712127del

Select item 149100782214.

rs1491007822 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 11:122863345 (GRCh38)
11:122734053 (GRCh37)
Canonical SPDI:: NC_000011.10:122863343:AGA:A
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00017/2 (ALFA)
-=0.00015/2 (TOMMO)
-=0.00023/16 (GnomAD)
HGVS:: NC_000011.10:g.122863345_122863346del, NC_000011.9:g.122734053_122734054del

Select item 149098144615.

rs1490981446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:122871017 (GRCh38)
11:122741725 (GRCh37)
Canonical SPDI:: NC_000011.10:122871016:T:G
Gene:: CRTAM (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.122871017T>G, NC_000011.9:g.122741725T>G

Select item 149095541316.

rs1490955413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:122857424 (GRCh38)
11:122728132 (GRCh37)
Canonical SPDI:: NC_000011.10:122857423:A:C
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_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_000011.10:g.122857424A>C, NC_000011.9:g.122728132A>C

Select item 149092808217.

rs1490928082 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:122856139 (GRCh38)
11:122726847 (GRCh37)
Canonical SPDI:: NC_000011.10:122856138:A:G
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.122856139A>G, NC_000011.9:g.122726847A>G

Select item 149091066518.

rs1490910665 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:122857610 (GRCh38)
11:122728318 (GRCh37)
Canonical SPDI:: NC_000011.10:122857609:A:C
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_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_000011.10:g.122857610A>C, NC_000011.9:g.122728318A>C

Select item 149087150719.

rs1490871507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:122847864 (GRCh38)
11:122718572 (GRCh37)
Canonical SPDI:: NC_000011.10:122847863:C:G
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.122847864C>G, NC_000011.9:g.122718572C>G

Select item 149084621920.

rs1490846219 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:122849097 (GRCh38)
11:122719805 (GRCh37)
Canonical SPDI:: NC_000011.10:122849096:C:T
Gene:: CRTAM (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.122849097C>T, NC_000011.9:g.122719805C>T

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