SNP Links for Gene (Select 4122) - SNP

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Select item 14914330601.

rs1491433060 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:90900339 (GRCh38)
15:91443569 (GRCh37)
Canonical SPDI:: NC_000015.10:90900338:CA:
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000015.10:g.90900339_90900340del, NC_000015.9:g.91443569_91443570del

Select item 14913946232.

rs1491394623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 15:90922963 (GRCh38)
15:91466194 (GRCh37)
Canonical SPDI:: NC_000015.10:90922963:A:ACA
Gene:: MAN2A2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00006/5 (GnomAD)
HGVS:: NC_000015.10:g.90922964_90922965insCA, NC_000015.9:g.91466194_91466195insCA

Select item 14913747443.

rs1491374744 [Homo sapiens]

Variant type:: INS
Alleles:: ->CT,CTT,CTTTT,CTTTTT,CTTTTTT [Show Flanks]
Chromosome:: 15:90909605 (GRCh38)
15:91452836 (GRCh37)
Canonical SPDI:: NC_000015.10:90909605::CT,NC_000015.10:90909605::CTT,NC_000015.10:90909605::CTTTT,NC_000015.10:90909605::CTTTTT,NC_000015.10:90909605::CTTTTTT
Gene:: MAN2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTTTT=0.00043/7 (ALFA)
CT=0.00007/2 (TOMMO)
CT=0.01014/6 (NorthernSweden)
HGVS:: NC_000015.10:g.90909605_90909606insCT, NC_000015.10:g.90909605_90909606insCTT, NC_000015.10:g.90909605_90909606insCTTTT, NC_000015.10:g.90909605_90909606insCTTTTT, NC_000015.10:g.90909605_90909606insCTTTTTT, NC_000015.9:g.91452835_91452836insCT, NC_000015.9:g.91452835_91452836insCTT, NC_000015.9:g.91452835_91452836insCTTTT, NC_000015.9:g.91452835_91452836insCTTTTT, NC_000015.9:g.91452835_91452836insCTTTTTT

Select item 14913465064.

rs1491346506 has merged into rs1316870423 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGAG>-,AG,AGAGAG [Show Flanks]
Chromosome:: 15:90916367 (GRCh38)
15:91459597 (GRCh37)
Canonical SPDI:: NC_000015.10:90916358:AGAGAGAGAGAG:AGAGAGAG,NC_000015.10:90916358:AGAGAGAGAGAG:AGAGAGAGAG,NC_000015.10:90916358:AGAGAGAGAGAG:AGAGAGAGAGAGAG
Gene:: MAN2A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAG=0./0 (ALFA)
HGVS:: NC_000015.10:g.90916359AG[4], NC_000015.10:g.90916359AG[5], NC_000015.10:g.90916359AG[7], NC_000015.9:g.91459589AG[4], NC_000015.9:g.91459589AG[5], NC_000015.9:g.91459589AG[7]

Select item 14911181235.

rs1491118123 has merged into rs149600564 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:90900351 (GRCh38)
15:91443581 (GRCh37)
Canonical SPDI:: NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:90900339:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
AAA=0.480631/2407 (1000Genomes)
HGVS:: NC_000015.10:g.90900351_90900364del, NC_000015.10:g.90900354_90900364del, NC_000015.10:g.90900355_90900364del, NC_000015.10:g.90900357_90900364del, NC_000015.10:g.90900358_90900364del, NC_000015.10:g.90900359_90900364del, NC_000015.10:g.90900360_90900364del, NC_000015.10:g.90900361_90900364del, NC_000015.10:g.90900362_90900364del, NC_000015.10:g.90900363_90900364del, NC_000015.10:g.90900364del, NC_000015.10:g.90900364dup, NC_000015.10:g.90900363_90900364dup, NC_000015.10:g.90900362_90900364dup, NC_000015.10:g.90900361_90900364dup, NC_000015.10:g.90900360_90900364dup, NC_000015.10:g.90900364_90900365insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.91443581_91443594del, NC_000015.9:g.91443584_91443594del, NC_000015.9:g.91443585_91443594del, NC_000015.9:g.91443587_91443594del, NC_000015.9:g.91443588_91443594del, NC_000015.9:g.91443589_91443594del, NC_000015.9:g.91443590_91443594del, NC_000015.9:g.91443591_91443594del, NC_000015.9:g.91443592_91443594del, NC_000015.9:g.91443593_91443594del, NC_000015.9:g.91443594del, NC_000015.9:g.91443594dup, NC_000015.9:g.91443593_91443594dup, NC_000015.9:g.91443592_91443594dup, NC_000015.9:g.91443591_91443594dup, NC_000015.9:g.91443590_91443594dup, NC_000015.9:g.91443594_91443595insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14909402856.

rs1490940285 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:90908783 (GRCh38)
15:91452013 (GRCh37)
Canonical SPDI:: NC_000015.10:90908782:C:A
Gene:: MAN2A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000015.10:g.90908783C>A, NC_000015.9:g.91452013C>A

Select item 14908395567.

rs1490839556 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:90910979 (GRCh38)
15:91454209 (GRCh37)
Canonical SPDI:: NC_000015.10:90910978:C:A
Gene:: MAN2A2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000015.10:g.90910979C>A, NC_000015.9:g.91454209C>A

Select item 14907401868.

rs1490740186 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:90915290 (GRCh38)
15:91458520 (GRCh37)
Canonical SPDI:: NC_000015.10:90915289:G:A,NC_000015.10:90915289:G:C
Gene:: MAN2A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.90915290G>A, NC_000015.10:g.90915290G>C, NC_000015.9:g.91458520G>A, NC_000015.9:g.91458520G>C

Select item 14907146699.

rs1490714669 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:90914403 (GRCh38)
15:91457633 (GRCh37)
Canonical SPDI:: NC_000015.10:90914402:G:A
Gene:: MAN2A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.90914403G>A, NC_000015.9:g.91457633G>A

Select item 149055418010.

rs1490554180 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:90901530 (GRCh38)
15:91444760 (GRCh37)
Canonical SPDI:: NC_000015.10:90901529:A:C
Gene:: MAN2A2 (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.90901530A>C, NC_000015.9:g.91444760A>C

Select item 149043061111.

rs1490430611 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:90907868 (GRCh38)
15:91451098 (GRCh37)
Canonical SPDI:: NC_000015.10:90907867:C:T
Gene:: MAN2A2 (Varview)
Functional Consequence:: intron_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_000015.10:g.90907868C>T, NC_000015.9:g.91451098C>T

Select item 149032991012.

rs1490329910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:90901569 (GRCh38)
15:91444799 (GRCh37)
Canonical SPDI:: NC_000015.10:90901568:A:G
Gene:: MAN2A2 (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_000015.10:g.90901569A>G, NC_000015.9:g.91444799A>G

Select item 149022621113.

rs1490226211 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:90913902 (GRCh38)
15:91457132 (GRCh37)
Canonical SPDI:: NC_000015.10:90913901:G:A
Gene:: MAN2A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.90913902G>A, NC_000015.9:g.91457132G>A

Select item 149021750814.

rs1490217508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:90900875 (GRCh38)
15:91444105 (GRCh37)
Canonical SPDI:: NC_000015.10:90900874:T:C
Gene:: MAN2A2 (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_000015.10:g.90900875T>C, NC_000015.9:g.91444105T>C

Select item 149015313415.

rs1490153134 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 15:90920986 (GRCh38)
15:91464216 (GRCh37)
Canonical SPDI:: NC_000015.10:90920985:A:C,NC_000015.10:90920985:A:G
Gene:: MAN2A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000015.10:g.90920986A>C, NC_000015.10:g.90920986A>G, NC_000015.9:g.91464216A>C, NC_000015.9:g.91464216A>G, XM_005254910.4:c.*1199A>C, XM_005254910.4:c.*1199A>G, XM_005254910.3:c.*1199A>C, XM_005254910.3:c.*1199A>G, XM_005254910.2:c.*1199A>C, XM_005254910.2:c.*1199A>G, XM_005254910.1:c.*1199A>C, XM_005254910.1:c.*1199A>G, NM_006122.4:c.*1199A>C, NM_006122.4:c.*1199A>G, NM_006122.3:c.*1199A>C, NM_006122.3:c.*1199A>G, NM_006122.2:c.*1199A>C, NM_006122.2:c.*1199A>G, XM_024449920.2:c.*1199A>C, XM_024449920.2:c.*1199A>G, XM_024449920.1:c.*1199A>C, XM_024449920.1:c.*1199A>G, XM_024449922.2:c.*1199A>C, XM_024449922.2:c.*1199A>G, XM_024449922.1:c.*1199A>C, XM_024449922.1:c.*1199A>G, NM_001320977.2:c.*1199A>C, NM_001320977.2:c.*1199A>G, NM_001320977.1:c.*1199A>C, NM_001320977.1:c.*1199A>G, XM_024449921.2:c.*1199A>C, XM_024449921.2:c.*1199A>G, XM_024449921.1:c.*1199A>C, XM_024449921.1:c.*1199A>G, XM_024449923.2:c.*1199A>C, XM_024449923.2:c.*1199A>G, XM_024449923.1:c.*1199A>C, XM_024449923.1:c.*1199A>G, XM_024449924.2:c.*1199A>C, XM_024449924.2:c.*1199A>G, XM_024449924.1:c.*1199A>C, XM_024449924.1:c.*1199A>G, NR_135502.2:n.4974A>C, NR_135502.2:n.4974A>G, NR_135502.1:n.4938A>C, NR_135502.1:n.4938A>G, NR_135503.2:n.4949A>C, NR_135503.2:n.4949A>G, NR_135503.1:n.4913A>C, NR_135503.1:n.4913A>G, XM_017022184.2:c.*1199A>C, XM_017022184.2:c.*1199A>G, XM_017022184.1:c.*1199A>C, XM_017022184.1:c.*1199A>G, XM_017022185.2:c.*1199A>C, XM_017022185.2:c.*1199A>G, XM_017022185.1:c.*1199A>C, XM_017022185.1:c.*1199A>G, XM_047432507.1:c.*1199A>C, XM_047432507.1:c.*1199A>G, XM_047432509.1:c.*1199A>C, XM_047432509.1:c.*1199A>G, XM_047432508.1:c.*1199A>C, XM_047432508.1:c.*1199A>G, XM_047432510.1:c.*1199A>C, XM_047432510.1:c.*1199A>G, NR_135504.1:n.4695A>C, NR_135504.1:n.4695A>G, XM_047432515.1:c.*1199A>C, XM_047432515.1:c.*1199A>G, XM_047432516.1:c.*1199A>C, XM_047432516.1:c.*1199A>G

Select item 149012804916.

rs1490128049 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:90919857 (GRCh38)
15:91463087 (GRCh37)
Canonical SPDI:: NC_000015.10:90919856:G:A
Gene:: MAN2A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000015.10:g.90919857G>A, NC_000015.9:g.91463087G>A, XM_005254910.4:c.*70G>A, XM_005254910.3:c.*70G>A, XM_005254910.2:c.*70G>A, XM_005254910.1:c.*70G>A, NM_006122.4:c.*70G>A, NM_006122.3:c.*70G>A, NM_006122.2:c.*70G>A, XM_024449920.2:c.*70G>A, XM_024449920.1:c.*70G>A, XM_024449922.2:c.*70G>A, XM_024449922.1:c.*70G>A, NM_001320977.2:c.*70G>A, NM_001320977.1:c.*70G>A, XM_024449921.2:c.*70G>A, XM_024449921.1:c.*70G>A, XM_024449923.2:c.*70G>A, XM_024449923.1:c.*70G>A, XM_024449924.2:c.*70G>A, XM_024449924.1:c.*70G>A, NR_135502.2:n.3845G>A, NR_135502.1:n.3809G>A, NR_135503.2:n.3820G>A, NR_135503.1:n.3784G>A, XM_017022184.2:c.*70G>A, XM_017022184.1:c.*70G>A, XM_017022185.2:c.*70G>A, XM_017022185.1:c.*70G>A, XM_047432507.1:c.*70G>A, XM_047432509.1:c.*70G>A, XM_047432508.1:c.*70G>A, XM_047432510.1:c.*70G>A, NR_135504.1:n.3566G>A, XM_047432515.1:c.*70G>A, XM_047432516.1:c.*70G>A

Select item 148999475217.

rs1489994752 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:90910540 (GRCh38)
15:91453770 (GRCh37)
Canonical SPDI:: NC_000015.10:90910539:T:C
Gene:: MAN2A2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.90910540T>C, NC_000015.9:g.91453770T>C, XM_005254910.4:c.1617T>C, XM_005254910.3:c.1617T>C, XM_005254910.2:c.1617T>C, XM_005254910.1:c.1617T>C, NM_006122.4:c.1617T>C, NM_006122.3:c.1617T>C, NM_006122.2:c.1617T>C, XM_024449920.2:c.1617T>C, XM_024449920.1:c.1617T>C, XM_024449922.2:c.1617T>C, XM_024449922.1:c.1617T>C, NM_001320977.2:c.1617T>C, NM_001320977.1:c.1617T>C, XM_024449921.2:c.1617T>C, XM_024449921.1:c.1617T>C, XM_024449923.2:c.1617T>C, XM_024449923.1:c.1617T>C, XM_024449924.2:c.1617T>C, XM_024449924.1:c.1617T>C, NR_135502.2:n.1946T>C, NR_135502.1:n.1910T>C, NR_135503.2:n.1946T>C, NR_135503.1:n.1910T>C, XM_017022184.2:c.1617T>C, XM_017022184.1:c.1617T>C, XM_017022185.2:c.1617T>C, XM_017022185.1:c.1617T>C, XM_047432507.1:c.1617T>C, XM_047432509.1:c.1617T>C, XM_047432508.1:c.1617T>C, XM_047432510.1:c.1617T>C, NR_135504.1:n.1635T>C, XM_047432515.1:c.354T>C, XM_047432516.1:c.354T>C, XM_047432511.1:c.1617T>C, XM_047432512.1:c.1617T>C, XM_047432513.1:c.1617T>C, XM_047432514.1:c.1617T>C

Select item 148998946118.

rs1489989461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:90921459 (GRCh38)
15:91464689 (GRCh37)
Canonical SPDI:: NC_000015.10:90921458:C:T
Gene:: MAN2A2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000045/12 (TOPMED)
T=0.000342/1 (KOREAN)
T=0.001092/2 (Korea1K)
HGVS:: NC_000015.10:g.90921459C>T, NC_000015.9:g.91464689C>T, XM_005254910.4:c.*1672C>T, XM_005254910.3:c.*1672C>T, XM_005254910.2:c.*1672C>T, NM_006122.4:c.*1672C>T, NM_006122.3:c.*1672C>T, NM_006122.2:c.*1672C>T, XM_024449920.2:c.*1672C>T, XM_024449920.1:c.*1672C>T, XM_024449922.2:c.*1672C>T, XM_024449922.1:c.*1672C>T, NM_001320977.2:c.*1672C>T, NM_001320977.1:c.*1672C>T, XM_024449921.2:c.*1672C>T, XM_024449921.1:c.*1672C>T, XM_024449923.2:c.*1672C>T, XM_024449923.1:c.*1672C>T, XM_024449924.2:c.*1672C>T, NR_135502.2:n.5447C>T, NR_135502.1:n.5411C>T, NR_135503.2:n.5422C>T, NR_135503.1:n.5386C>T, XM_017022184.2:c.*1672C>T, XM_017022184.1:c.*1672C>T, XM_017022185.2:c.*1672C>T, XM_047432507.1:c.*1672C>T, XM_047432509.1:c.*1672C>T, XM_047432508.1:c.*1672C>T, XM_047432510.1:c.*1672C>T, NR_135504.1:n.5168C>T, XM_047432515.1:c.*1672C>T, XM_047432516.1:c.*1672C>T

Select item 148994067219.

rs1489940672 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:90907402 (GRCh38)
15:91450632 (GRCh37)
Canonical SPDI:: NC_000015.10:90907401:G:T
Gene:: MAN2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_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_000015.10:g.90907402G>T, NC_000015.9:g.91450632G>T, XM_005254910.4:c.1103G>T, XM_005254910.3:c.1103G>T, XM_005254910.2:c.1103G>T, XM_005254910.1:c.1103G>T, NM_006122.4:c.1103G>T, NM_006122.3:c.1103G>T, NM_006122.2:c.1103G>T, XM_024449920.2:c.1103G>T, XM_024449920.1:c.1103G>T, XM_024449922.2:c.1103G>T, XM_024449922.1:c.1103G>T, NM_001320977.2:c.1103G>T, NM_001320977.1:c.1103G>T, XM_024449921.2:c.1103G>T, XM_024449921.1:c.1103G>T, XM_024449923.2:c.1103G>T, XM_024449923.1:c.1103G>T, XM_024449924.2:c.1103G>T, XM_024449924.1:c.1103G>T, NR_135502.2:n.1432G>T, NR_135502.1:n.1396G>T, NR_135503.2:n.1432G>T, NR_135503.1:n.1396G>T, XM_017022184.2:c.1103G>T, XM_017022184.1:c.1103G>T, XM_017022185.2:c.1103G>T, XM_017022185.1:c.1103G>T, XM_047432507.1:c.1103G>T, XM_047432509.1:c.1103G>T, XM_047432508.1:c.1103G>T, XM_047432510.1:c.1103G>T, NR_135504.1:n.1121G>T, XM_047432515.1:c.43G>T, XM_047432516.1:c.43G>T, XM_047432511.1:c.1103G>T, XM_047432512.1:c.1103G>T, XM_047432513.1:c.1103G>T, XM_047432514.1:c.1103G>T, XP_005254967.1:p.Cys368Phe, NP_006113.2:p.Cys368Phe, XP_024305688.1:p.Cys368Phe, XP_024305690.1:p.Cys368Phe, NP_001307906.1:p.Cys368Phe, XP_024305689.1:p.Cys368Phe, XP_024305691.1:p.Cys368Phe, XP_024305692.1:p.Cys368Phe, XP_016877673.1:p.Cys368Phe, XP_016877674.1:p.Cys368Phe, XP_047288463.1:p.Cys368Phe, XP_047288465.1:p.Cys368Phe, XP_047288464.1:p.Cys368Phe, XP_047288466.1:p.Cys368Phe, XP_047288471.1:p.Ala15Ser, XP_047288472.1:p.Ala15Ser, XP_047288467.1:p.Cys368Phe, XP_047288468.1:p.Cys368Phe, XP_047288469.1:p.Cys368Phe, XP_047288470.1:p.Cys368Phe

Select item 148981057420.

rs1489810574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:90918362 (GRCh38)
15:91461592 (GRCh37)
Canonical SPDI:: NC_000015.10:90918361:C:G
Gene:: MAN2A2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.90918362C>G, NC_000015.9:g.91461592C>G, XM_005254910.4:c.3238C>G, XM_005254910.3:c.3238C>G, XM_005254910.2:c.3238C>G, XM_005254910.1:c.3238C>G, NM_006122.4:c.3163C>G, NM_006122.3:c.3163C>G, NM_006122.2:c.3163C>G, XM_024449920.2:c.3238C>G, XM_024449920.1:c.3238C>G, XM_024449922.2:c.3163C>G, XM_024449922.1:c.3163C>G, NM_001320977.2:c.3238C>G, NM_001320977.1:c.3238C>G, XM_024449921.2:c.3238C>G, XM_024449921.1:c.3238C>G, XM_024449923.2:c.3163C>G, XM_024449923.1:c.3163C>G, XM_024449924.2:c.3163C>G, XM_024449924.1:c.3163C>G, NR_135502.2:n.3485C>G, NR_135502.1:n.3449C>G, NR_135503.2:n.3460C>G, NR_135503.1:n.3424C>G, XM_017022184.2:c.3238C>G, XM_017022184.1:c.3238C>G, XM_017022185.2:c.3163C>G, XM_017022185.1:c.3163C>G, XM_047432507.1:c.3238C>G, XM_047432509.1:c.3163C>G, XM_047432508.1:c.3163C>G, XM_047432510.1:c.3163C>G, NR_135504.1:n.3206C>G, XM_047432515.1:c.1975C>G, XM_047432516.1:c.1900C>G, XP_005254967.1:p.Leu1080Val, NP_006113.2:p.Leu1055Val, XP_024305688.1:p.Leu1080Val, XP_024305690.1:p.Leu1055Val, NP_001307906.1:p.Leu1080Val, XP_024305689.1:p.Leu1080Val, XP_024305691.1:p.Leu1055Val, XP_024305692.1:p.Leu1055Val, XP_016877673.1:p.Leu1080Val, XP_016877674.1:p.Leu1055Val, XP_047288463.1:p.Leu1080Val, XP_047288465.1:p.Leu1055Val, XP_047288464.1:p.Leu1055Val, XP_047288466.1:p.Leu1055Val, XP_047288471.1:p.Leu659Val, XP_047288472.1:p.Leu634Val

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