SNP Links for Gene (Select 4113) - SNP

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Select item 14914587951.

rs1491458795 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: X:30216886 (GRCh38)
X:30235003 (GRCh37)
Canonical SPDI:: NC_000023.11:30216885:TA:
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00018/15 (GnomAD)
HGVS:: NC_000023.11:g.30216886_30216887del, NC_000023.10:g.30235003_30235004del, NG_013246.1:g.6329_6330del

Select item 14912316172.

rs1491231617 has merged into rs59753945 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: X:30216900 (GRCh38)
X:30235017 (GRCh37)
Canonical SPDI:: NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000023.11:30216886:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000023.11:g.30216900_30216904del, NC_000023.11:g.30216901_30216904del, NC_000023.11:g.30216902_30216904del, NC_000023.11:g.30216903_30216904del, NC_000023.11:g.30216904del, NC_000023.11:g.30216904dup, NC_000023.11:g.30216903_30216904dup, NC_000023.11:g.30216901_30216904dup, NC_000023.11:g.30216896_30216904dup, NC_000023.11:g.30216895_30216904dup, NC_000023.11:g.30216894_30216904dup, NC_000023.10:g.30235017_30235021del, NC_000023.10:g.30235018_30235021del, NC_000023.10:g.30235019_30235021del, NC_000023.10:g.30235020_30235021del, NC_000023.10:g.30235021del, NC_000023.10:g.30235021dup, NC_000023.10:g.30235020_30235021dup, NC_000023.10:g.30235018_30235021dup, NC_000023.10:g.30235013_30235021dup, NC_000023.10:g.30235012_30235021dup, NC_000023.10:g.30235011_30235021dup, NG_013246.1:g.6343_6347del, NG_013246.1:g.6344_6347del, NG_013246.1:g.6345_6347del, NG_013246.1:g.6346_6347del, NG_013246.1:g.6347del, NG_013246.1:g.6347dup, NG_013246.1:g.6346_6347dup, NG_013246.1:g.6344_6347dup, NG_013246.1:g.6339_6347dup, NG_013246.1:g.6338_6347dup, NG_013246.1:g.6337_6347dup

Select item 14910852953.

rs1491085295 has merged into rs368622211 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT [Show Flanks]
Chromosome:: X:30219717 (GRCh38)
X:30237834 (GRCh37)
Canonical SPDI:: NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000023.11:30219707:TTTTTTTTTTT:TTTTTTTTTTTTT
Gene:: MAGEB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.18215/606 (1000Genomes)
HGVS:: NC_000023.11:g.30219717_30219718del, NC_000023.11:g.30219718del, NC_000023.11:g.30219718dup, NC_000023.11:g.30219717_30219718dup, NC_000023.10:g.30237834_30237835del, NC_000023.10:g.30237835del, NC_000023.10:g.30237835dup, NC_000023.10:g.30237834_30237835dup, NG_013246.1:g.9160_9161del, NG_013246.1:g.9161del, NG_013246.1:g.9161dup, NG_013246.1:g.9160_9161dup, NM_002364.5:c.*177_*178del, NM_002364.5:c.*178del, NM_002364.5:c.*178dup, NM_002364.5:c.*177_*178dup, NM_002364.4:c.*177_*178del, NM_002364.4:c.*178del, NM_002364.4:c.*178dup, NM_002364.4:c.*177_*178dup, XM_011545512.2:c.*177_*178del, XM_011545512.2:c.*178del, XM_011545512.2:c.*178dup, XM_011545512.2:c.*177_*178dup, XM_011545512.1:c.*177_*178del, XM_011545512.1:c.*178del, XM_011545512.1:c.*178dup, XM_011545512.1:c.*177_*178dup

Select item 14907398654.

rs1490739865 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:30214463 (GRCh38)
X:30232580 (GRCh37)
Canonical SPDI:: NC_000023.11:30214462:G:T
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30214463G>T, NC_000023.10:g.30232580G>T, NG_013246.1:g.3906G>T

Select item 14904852335.

rs1490485233 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30217213 (GRCh38)
X:30235330 (GRCh37)
Canonical SPDI:: NC_000023.11:30217212:G:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30217213G>A, NC_000023.10:g.30235330G>A, NG_013246.1:g.6656G>A

Select item 14903711876.

rs1490371187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:30219478 (GRCh38)
X:30237595 (GRCh37)
Canonical SPDI:: NC_000023.11:30219477:C:A,NC_000023.11:30219477:C:T
Gene:: MAGEB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30219478C>A, NC_000023.11:g.30219478C>T, NC_000023.10:g.30237595C>A, NC_000023.10:g.30237595C>T, NG_013246.1:g.8921C>A, NG_013246.1:g.8921C>T, NM_002364.5:c.898C>A, NM_002364.5:c.898C>T, NM_002364.4:c.898C>A, NM_002364.4:c.898C>T, XM_011545512.2:c.898C>A, XM_011545512.2:c.898C>T, XM_011545512.1:c.898C>A, XM_011545512.1:c.898C>T, NP_002355.2:p.Pro300Thr, NP_002355.2:p.Pro300Ser, XP_011543814.1:p.Pro300Thr, XP_011543814.1:p.Pro300Ser

Select item 14896675727.

rs1489667572 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30219142 (GRCh38)
X:30237259 (GRCh37)
Canonical SPDI:: NC_000023.11:30219141:G:A
Gene:: MAGEB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000023.11:g.30219142G>A, NC_000023.10:g.30237259G>A, NG_013246.1:g.8585G>A, NM_002364.5:c.562G>A, NM_002364.4:c.562G>A, XM_011545512.2:c.562G>A, XM_011545512.1:c.562G>A, NP_002355.2:p.Asp188Asn, XP_011543814.1:p.Asp188Asn

Select item 14893655848.

rs1489365584 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: X:30219980 (GRCh38)
X:30238097 (GRCh37)
Canonical SPDI:: NC_000023.11:30219979:G:A,NC_000023.11:30219979:G:T
Gene:: MAGEB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.30219980G>A, NC_000023.11:g.30219980G>T, NC_000023.10:g.30238097G>A, NC_000023.10:g.30238097G>T, NG_013246.1:g.9423G>A, NG_013246.1:g.9423G>T, NM_002364.5:c.*440G>A, NM_002364.5:c.*440G>T, NM_002364.4:c.*440G>A, NM_002364.4:c.*440G>T, XM_011545512.2:c.*440G>A, XM_011545512.2:c.*440G>T, XM_011545512.1:c.*440G>A, XM_011545512.1:c.*440G>T

Select item 14893335959.

rs1489333595 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:30216813 (GRCh38)
X:30234930 (GRCh37)
Canonical SPDI:: NC_000023.11:30216812:A:G
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30216813A>G, NC_000023.10:g.30234930A>G, NG_013246.1:g.6256A>G

Select item 148881364110.

rs1488813641 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30215279 (GRCh38)
X:30233396 (GRCh37)
Canonical SPDI:: NC_000023.11:30215278:G:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.30215279G>A, NC_000023.10:g.30233396G>A, NG_013246.1:g.4722G>A, XR_001755983.2:n.242C>T, XR_001755983.1:n.186C>T

Select item 148685335711.

rs1486853357 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30213913 (GRCh38)
X:30232030 (GRCh37)
Canonical SPDI:: NC_000023.11:30213912:G:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.30213913G>A, NC_000023.10:g.30232030G>A, NG_013246.1:g.3356G>A

Select item 148652906112.

rs1486529061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30217392 (GRCh38)
X:30235509 (GRCh37)
Canonical SPDI:: NC_000023.11:30217391:G:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30217392G>A, NC_000023.10:g.30235509G>A, NG_013246.1:g.6835G>A

Select item 148482562013.

rs1484825620 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:30218007 (GRCh38)
X:30236124 (GRCh37)
Canonical SPDI:: NC_000023.11:30218006:C:G
Gene:: MAGEB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30218007C>G, NC_000023.10:g.30236124C>G, NG_013246.1:g.7450C>G

Select item 148446966514.

rs1484469665 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30215351 (GRCh38)
X:30233468 (GRCh37)
Canonical SPDI:: NC_000023.11:30215350:G:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.00018/2 (TOMMO)
A=0.001717/5 (KOREAN)
HGVS:: NC_000023.11:g.30215351G>A, NC_000023.10:g.30233468G>A, NG_013246.1:g.4794G>A, XR_001755983.2:n.170C>T, XR_001755983.1:n.114C>T

Select item 148385146115.

rs1483851461 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:30220155 (GRCh38)
X:30238272 (GRCh37)
Canonical SPDI:: NC_000023.11:30220154:G:A
Gene:: MAGEB2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
A=0.000342/1 (KOREAN)
A=0.001935/25 (TOMMO)
HGVS:: NC_000023.11:g.30220155G>A, NC_000023.10:g.30238272G>A, NG_013246.1:g.9598G>A

Select item 148322789516.

rs1483227895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:30219719 (GRCh38)
X:30237836 (GRCh37)
Canonical SPDI:: NC_000023.11:30219718:C:T
Gene:: MAGEB2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00009/2 (TOMMO)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000023.11:g.30219719C>T, NC_000023.10:g.30237836C>T, NG_013246.1:g.9162C>T, NM_002364.5:c.*179C>T, NM_002364.4:c.*179C>T, XM_011545512.2:c.*179C>T, XM_011545512.1:c.*179C>T

Select item 148320940217.

rs1483209402 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:30213986 (GRCh38)
X:30232103 (GRCh37)
Canonical SPDI:: NC_000023.11:30213985:A:C
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000023.11:g.30213986A>C, NC_000023.10:g.30232103A>C, NG_013246.1:g.3429A>C

Select item 148286819518.

rs1482868195 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: X:30215762 (GRCh38)
X:30233879 (GRCh37)
Canonical SPDI:: NC_000023.11:30215761:T:A
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30215762T>A, NC_000023.10:g.30233879T>A, NG_013246.1:g.5205T>A

Select item 148263763619.

rs1482637636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:30215690 (GRCh38)
X:30233807 (GRCh37)
Canonical SPDI:: NC_000023.11:30215689:C:A,NC_000023.11:30215689:C:T
Gene:: MAGEB2 (Varview), LOC107985632 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000023.11:g.30215690C>A, NC_000023.11:g.30215690C>T, NC_000023.10:g.30233807C>A, NC_000023.10:g.30233807C>T, NG_013246.1:g.5133C>A, NG_013246.1:g.5133C>T

Select item 148234310420.

rs1482343104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:30217916 (GRCh38)
X:30236033 (GRCh37)
Canonical SPDI:: NC_000023.11:30217915:C:T
Gene:: MAGEB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.30217916C>T, NC_000023.10:g.30236033C>T, NG_013246.1:g.7359C>T

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