SNP Links for Gene (Select 347541) - SNP

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Select item 14910467931.

rs1491046793 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: X:26215081 (GRCh38)
X:26233199 (GRCh37)
Canonical SPDI:: NC_000023.11:26215081::C
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.00034/4 (ALFA)
C=0.00004/4 (GnomAD)
HGVS:: NC_000023.11:g.26215081_26215082insC, NC_000023.10:g.26233198_26233199insC

Select item 14905436002.

rs1490543600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26214694 (GRCh38)
X:26232811 (GRCh37)
Canonical SPDI:: NC_000023.11:26214693:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.26214694T>C, NC_000023.10:g.26232811T>C

Select item 14905156233.

rs1490515623 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:26217842 (GRCh38)
X:26235959 (GRCh37)
Canonical SPDI:: NC_000023.11:26217841:T:A
Gene:: MAGEB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.26217842T>A, NC_000023.10:g.26235959T>A, NM_001271752.1:c.541T>A, NP_001258681.1:p.Phe181Ile

Select item 14893813454.

rs1489381345 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26217852 (GRCh38)
X:26235969 (GRCh37)
Canonical SPDI:: NC_000023.11:26217851:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000023.11:g.26217852T>C, NC_000023.10:g.26235969T>C, NM_001271752.1:c.551T>C, NP_001258681.1:p.Leu184Pro

Select item 14883446025.

rs1488344602 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26216620 (GRCh38)
X:26234737 (GRCh37)
Canonical SPDI:: NC_000023.11:26216619:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.26216620T>C, NC_000023.10:g.26234737T>C

Select item 14876918926.

rs1487691892 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26215387 (GRCh38)
X:26233504 (GRCh37)
Canonical SPDI:: NC_000023.11:26215386:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000038/10 (TOPMED)
C=0.000038/4 (GnomAD)
HGVS:: NC_000023.11:g.26215387T>C, NC_000023.10:g.26233504T>C

Select item 14852152427.

rs1485215242 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:26216655 (GRCh38)
X:26234772 (GRCh37)
Canonical SPDI:: NC_000023.11:26216654:T:G
Gene:: MAGEB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.26216655T>G, NC_000023.10:g.26234772T>G

Select item 14851639098.

rs1485163909 has merged into rs988188991 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: X:26218182 (GRCh38)
X:26236299 (GRCh37)
Canonical SPDI:: NC_000023.11:26218181:TTTTTTTT:TTTTTTT,NC_000023.11:26218181:TTTTTTTT:TTTTTTTTT
Gene:: MAGEB5 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000023.11:g.26218189del, NC_000023.11:g.26218189dup, NC_000023.10:g.26236306del, NC_000023.10:g.26236306dup, NM_001271752.1:c.*60del, NM_001271752.1:c.*60dup

Select item 14841039839.

rs1484103983 has merged into rs3054518 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: X:26215080 (GRCh38)
X:26233197 (GRCh37)
Canonical SPDI:: NC_000023.11:26215067:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:26215067:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000023.11:26215067:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000023.11:26215067:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000023.11:26215067:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0.00018/2 (ALFA)
-=0.275/11 (GENOME_DK)
HGVS:: NC_000023.11:g.26215080_26215082del, NC_000023.11:g.26215081_26215082del, NC_000023.11:g.26215082del, NC_000023.11:g.26215082dup, NC_000023.11:g.26215081_26215082dup, NC_000023.10:g.26233197_26233199del, NC_000023.10:g.26233198_26233199del, NC_000023.10:g.26233199del, NC_000023.10:g.26233199dup, NC_000023.10:g.26233198_26233199dup

Select item 148083156610.

rs1480831566 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: X:26215083 (GRCh38)
X:26233200 (GRCh37)
Canonical SPDI:: NC_000023.11:26215082:C:
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00331/54 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000023.11:g.26215083del, NC_000023.10:g.26233200del

Select item 148037907611.

rs1480379076 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:26215739 (GRCh38)
X:26233856 (GRCh37)
Canonical SPDI:: NC_000023.11:26215738:A:T
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.26215739A>T, NC_000023.10:g.26233856A>T

Select item 147939004412.

rs1479390044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26216518 (GRCh38)
X:26234635 (GRCh37)
Canonical SPDI:: NC_000023.11:26216517:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/2 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000023.11:g.26216518T>C, NC_000023.10:g.26234635T>C

Select item 147900460313.

rs1479004603 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:26214671 (GRCh38)
X:26232788 (GRCh37)
Canonical SPDI:: NC_000023.11:26214670:T:C
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.26214671T>C, NC_000023.10:g.26232788T>C

Select item 147895405814.

rs1478954058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: X:26216103 (GRCh38)
X:26234220 (GRCh37)
Canonical SPDI:: NC_000023.11:26216102:A:T
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
HGVS:: NC_000023.11:g.26216103A>T, NC_000023.10:g.26234220A>T

Select item 147872091015.

rs1478720910 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:26216858 (GRCh38)
X:26234975 (GRCh37)
Canonical SPDI:: NC_000023.11:26216857:C:A,NC_000023.11:26216857:C:T
Gene:: MAGEB5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000023.11:g.26216858C>A, NC_000023.11:g.26216858C>T, NC_000023.10:g.26234975C>A, NC_000023.10:g.26234975C>T

Select item 147836398916.

rs1478363989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:26216120 (GRCh38)
X:26234237 (GRCh37)
Canonical SPDI:: NC_000023.11:26216119:C:A
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.26216120C>A, NC_000023.10:g.26234237C>A

Select item 147771499517.

rs1477714995 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: X:26217563 (GRCh38)
X:26235680 (GRCh37)
Canonical SPDI:: NC_000023.11:26217562:C:A
Gene:: MAGEB5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000018/2 (GnomAD_exomes)
HGVS:: NC_000023.11:g.26217563C>A, NC_000023.10:g.26235680C>A, NM_001271752.1:c.262C>A, NP_001258681.1:p.His88Asn

Select item 147675942818.

rs1476759428 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:26215672 (GRCh38)
X:26233789 (GRCh37)
Canonical SPDI:: NC_000023.11:26215671:C:T
Gene:: MAGEB5 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.26215672C>T, NC_000023.10:g.26233789C>T

Select item 147088213019.

rs1470882130 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:26214383 (GRCh38)
X:26232500 (GRCh37)
Canonical SPDI:: NC_000023.11:26214382:T:G
Gene:: MAGEB5 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000106/11 (GnomAD)
G=0.000193/51 (TOPMED)
HGVS:: NC_000023.11:g.26214383T>G, NC_000023.10:g.26232500T>G

Select item 147068532520.

rs1470685325 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:26218681 (GRCh38)
X:26236798 (GRCh37)
Canonical SPDI:: NC_000023.11:26218680:G:A
Gene:: MAGEB5 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.26218681G>A, NC_000023.10:g.26236798G>A

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