SNP Links for Nucleotide (Select 109633016) - SNP

Links from Nucleotide

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Select item 14907927781.

rs1490792778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 4:1900769 (GRCh38)
4:1902496 (GRCh37)
Canonical SPDI:: NC_000004.12:1900768:G:A,NC_000004.12:1900768:G:T
Gene:: NSD2 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000035/1 (TOMMO)
A=0.000685/2 (KOREAN)
HGVS:: NC_000004.12:g.1900769G>A, NC_000004.12:g.1900769G>T, NC_000004.11:g.1902496G>A, NC_000004.11:g.1902496G>T, NG_009269.1:g.34374G>A, NG_009269.1:g.34374G>T, NM_133335.4:c.115G>A, NM_133335.4:c.115G>T, NM_133335.3:c.115G>A, NM_133335.3:c.115G>T, NM_133330.3:c.115G>A, NM_133330.3:c.115G>T, NM_133330.2:c.115G>A, NM_133330.2:c.115G>T, NM_133331.3:c.115G>A, NM_133331.3:c.115G>T, NM_133331.2:c.115G>A, NM_133331.2:c.115G>T, NM_001042424.3:c.115G>A, NM_001042424.3:c.115G>T, NM_001042424.2:c.115G>A, NM_001042424.2:c.115G>T, NM_133334.2:c.115G>A, NM_133334.2:c.115G>T, NM_007331.2:c.115G>A, NM_007331.2:c.115G>T, NM_007331.1:c.115G>A, NM_007331.1:c.115G>T, XM_005248001.5:c.115G>A, XM_005248001.5:c.115G>T, XM_005248001.4:c.115G>A, XM_005248001.4:c.115G>T, XM_005248001.3:c.115G>A, XM_005248001.3:c.115G>T, XM_005248001.2:c.115G>A, XM_005248001.2:c.115G>T, XM_005248001.1:c.115G>A, XM_005248001.1:c.115G>T, XM_005248005.4:c.115G>A, XM_005248005.4:c.115G>T, XM_005248005.3:c.115G>A, XM_005248005.3:c.115G>T, XM_005248005.2:c.115G>A, XM_005248005.2:c.115G>T, XM_005248005.1:c.115G>A, XM_005248005.1:c.115G>T, XM_005248002.4:c.115G>A, XM_005248002.4:c.115G>T, XM_005248002.3:c.115G>A, XM_005248002.3:c.115G>T, XM_005248002.2:c.115G>A, XM_005248002.2:c.115G>T, XM_005248002.1:c.115G>A, XM_005248002.1:c.115G>T, XM_047416144.1:c.115G>A, XM_047416144.1:c.115G>T, NM_133332.1:c.115G>A, NM_133332.1:c.115G>T, NM_133333.1:c.115G>A, NM_133333.1:c.115G>T, XM_047416137.1:c.115G>A, XM_047416137.1:c.115G>T, XM_047416138.1:c.115G>A, XM_047416138.1:c.115G>T, XM_047416139.1:c.115G>A, XM_047416139.1:c.115G>T, XM_047416141.1:c.115G>A, XM_047416141.1:c.115G>T, XM_047416142.1:c.115G>A, XM_047416142.1:c.115G>T, XM_047416143.1:c.115G>A, XM_047416143.1:c.115G>T, NM_014919.1:c.115G>A, NM_014919.1:c.115G>T, NP_579890.1:p.Glu39Lys, NP_579890.1:p.Glu39Ter, NP_579877.1:p.Glu39Lys, NP_579877.1:p.Glu39Ter, NP_579878.1:p.Glu39Lys, NP_579878.1:p.Glu39Ter, NP_001035889.1:p.Glu39Lys, NP_001035889.1:p.Glu39Ter, NP_579889.1:p.Glu39Lys, NP_579889.1:p.Glu39Ter, NP_015627.1:p.Glu39Lys, NP_015627.1:p.Glu39Ter, XP_005248058.1:p.Glu39Lys, XP_005248058.1:p.Glu39Ter, XP_005248062.1:p.Glu39Lys, XP_005248062.1:p.Glu39Ter, XP_005248059.1:p.Glu39Lys, XP_005248059.1:p.Glu39Ter, XP_047272100.1:p.Glu39Lys, XP_047272100.1:p.Glu39Ter, XP_047272093.1:p.Glu39Lys, XP_047272093.1:p.Glu39Ter, XP_047272094.1:p.Glu39Lys, XP_047272094.1:p.Glu39Ter, XP_047272095.1:p.Glu39Lys, XP_047272095.1:p.Glu39Ter, XP_047272097.1:p.Glu39Lys, XP_047272097.1:p.Glu39Ter, XP_047272098.1:p.Glu39Lys, XP_047272098.1:p.Glu39Ter, XP_047272099.1:p.Glu39Lys, XP_047272099.1:p.Glu39Ter

Select item 14891295502.

rs1489129550 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1944069 (GRCh38)
4:1945796 (GRCh37)
Canonical SPDI:: NC_000004.12:1944068:A:G
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.1944069A>G, NC_000004.11:g.1945796A>G, NG_009269.1:g.77674A>G, NM_133334.2:c.*1668A>G, XM_005248005.4:c.*1668A>G, XM_005248005.3:c.*1668A>G, XM_005248005.2:c.*1668A>G, XM_005248005.1:c.*1668A>G, XM_047416144.1:c.*1668A>G

Select item 14888454343.

rs1488845434 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1918157 (GRCh38)
4:1919884 (GRCh37)
Canonical SPDI:: NC_000004.12:1918156:C:T
Gene:: NSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1918157C>T, NC_000004.11:g.1919884C>T, NG_009269.1:g.51762C>T, NM_133335.4:c.944C>T, NM_133335.3:c.944C>T, NM_133330.3:c.944C>T, NM_133330.2:c.944C>T, NM_133331.3:c.944C>T, NM_133331.2:c.944C>T, NM_001042424.3:c.944C>T, NM_001042424.2:c.944C>T, NM_133334.2:c.944C>T, NM_007331.2:c.944C>T, NM_007331.1:c.944C>T, XM_005248001.5:c.944C>T, XM_005248001.4:c.944C>T, XM_005248001.3:c.944C>T, XM_005248001.2:c.944C>T, XM_005248001.1:c.944C>T, XM_005248005.4:c.944C>T, XM_005248005.3:c.944C>T, XM_005248005.2:c.944C>T, XM_005248005.1:c.944C>T, XM_005248002.4:c.944C>T, XM_005248002.3:c.944C>T, XM_005248002.2:c.944C>T, XM_005248002.1:c.944C>T, XM_047416144.1:c.944C>T, NM_133332.1:c.944C>T, NM_133333.1:c.944C>T, XM_047416137.1:c.944C>T, XM_047416138.1:c.944C>T, XM_047416139.1:c.944C>T, XM_047416141.1:c.944C>T, XM_047416142.1:c.944C>T, XM_047416143.1:c.944C>T, NM_014919.1:c.944C>T, NP_579890.1:p.Ser315Leu, NP_579877.1:p.Ser315Leu, NP_579878.1:p.Ser315Leu, NP_001035889.1:p.Ser315Leu, NP_579889.1:p.Ser315Leu, NP_015627.1:p.Ser315Leu, XP_005248058.1:p.Ser315Leu, XP_005248062.1:p.Ser315Leu, XP_005248059.1:p.Ser315Leu, XP_047272100.1:p.Ser315Leu, XP_047272093.1:p.Ser315Leu, XP_047272094.1:p.Ser315Leu, XP_047272095.1:p.Ser315Leu, XP_047272097.1:p.Ser315Leu, XP_047272098.1:p.Ser315Leu, XP_047272099.1:p.Ser315Leu

Select item 14888361064.

rs1488836106 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1946577 (GRCh38)
4:1948304 (GRCh37)
Canonical SPDI:: NC_000004.12:1946576:C:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.0002/1 (ALFA)
T=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.1946577C>T, NC_000004.11:g.1948304C>T, NG_009269.1:g.80182C>T, NM_133334.2:c.*4176C>T, XM_005248005.4:c.*4176C>T, XM_005248005.3:c.*4176C>T, XM_005248005.2:c.*4176C>T, XM_005248005.1:c.*4176C>T, XM_047416144.1:c.*4176C>T

Select item 14887058375.

rs1488705837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1944185 (GRCh38)
4:1945912 (GRCh37)
Canonical SPDI:: NC_000004.12:1944184:C:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1944185C>T, NC_000004.11:g.1945912C>T, NG_009269.1:g.77790C>T, NM_133334.2:c.*1784C>T, XM_005248005.4:c.*1784C>T, XM_005248005.3:c.*1784C>T, XM_005248005.2:c.*1784C>T, XM_005248005.1:c.*1784C>T, XM_047416144.1:c.*1784C>T

Select item 14884776796.

rs1488477679 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:1900752 (GRCh38)
4:1902479 (GRCh37)
Canonical SPDI:: NC_000004.12:1900751:G:A
Gene:: NSD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (Korea1K)
HGVS:: NC_000004.12:g.1900752G>A, NC_000004.11:g.1902479G>A, NG_009269.1:g.34357G>A, NM_133335.4:c.98G>A, NM_133335.3:c.98G>A, NM_133330.3:c.98G>A, NM_133330.2:c.98G>A, NM_133331.3:c.98G>A, NM_133331.2:c.98G>A, NM_001042424.3:c.98G>A, NM_001042424.2:c.98G>A, NM_133334.2:c.98G>A, NM_007331.2:c.98G>A, NM_007331.1:c.98G>A, XM_005248001.5:c.98G>A, XM_005248001.4:c.98G>A, XM_005248001.3:c.98G>A, XM_005248001.2:c.98G>A, XM_005248001.1:c.98G>A, XM_005248005.4:c.98G>A, XM_005248005.3:c.98G>A, XM_005248005.2:c.98G>A, XM_005248005.1:c.98G>A, XM_005248002.4:c.98G>A, XM_005248002.3:c.98G>A, XM_005248002.2:c.98G>A, XM_005248002.1:c.98G>A, XM_047416144.1:c.98G>A, NM_133332.1:c.98G>A, NM_133333.1:c.98G>A, XM_047416137.1:c.98G>A, XM_047416138.1:c.98G>A, XM_047416139.1:c.98G>A, XM_047416141.1:c.98G>A, XM_047416142.1:c.98G>A, XM_047416143.1:c.98G>A, NM_014919.1:c.98G>A, NP_579890.1:p.Gly33Glu, NP_579877.1:p.Gly33Glu, NP_579878.1:p.Gly33Glu, NP_001035889.1:p.Gly33Glu, NP_579889.1:p.Gly33Glu, NP_015627.1:p.Gly33Glu, XP_005248058.1:p.Gly33Glu, XP_005248062.1:p.Gly33Glu, XP_005248059.1:p.Gly33Glu, XP_047272100.1:p.Gly33Glu, XP_047272093.1:p.Gly33Glu, XP_047272094.1:p.Gly33Glu, XP_047272095.1:p.Gly33Glu, XP_047272097.1:p.Gly33Glu, XP_047272098.1:p.Gly33Glu, XP_047272099.1:p.Gly33Glu

Select item 14880551827.

rs1488055182 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1943239 (GRCh38)
4:1944966 (GRCh37)
Canonical SPDI:: NC_000004.12:1943238:C:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant,genic_upstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.1943239C>T, NC_000004.11:g.1944966C>T, NG_009269.1:g.76844C>T, NM_133334.2:c.*838C>T, XM_005248005.4:c.*838C>T, XM_005248005.3:c.*838C>T, XM_005248005.2:c.*838C>T, XM_005248005.1:c.*838C>T, XM_047416144.1:c.*838C>T

Select item 14874383298.

rs1487438329 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 4:1944367 (GRCh38)
4:1946094 (GRCh37)
Canonical SPDI:: NC_000004.12:1944366:T:G
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_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_000004.12:g.1944367T>G, NC_000004.11:g.1946094T>G, NG_009269.1:g.77972T>G, NM_133334.2:c.*1966T>G, XM_005248005.4:c.*1966T>G, XM_005248005.3:c.*1966T>G, XM_005248005.2:c.*1966T>G, XM_005248005.1:c.*1966T>G, XM_047416144.1:c.*1966T>G

Select item 14872437519.

rs1487243751 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 4:1948579 (GRCh38)
4:1950307 (GRCh37)
Canonical SPDI:: NC_000004.12:1948579:T:TT
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.1948580dup, NC_000004.11:g.1950307dup, NG_009269.1:g.82185dup, NM_133334.2:c.*6179dup, XM_005248005.4:c.*6179dup, XM_005248005.3:c.*6179dup, XM_005248005.2:c.*6179dup, XM_005248005.1:c.*6179dup, XM_047416144.1:c.*6179dup

Select item 148649378010.

rs1486493780 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:1901015 (GRCh38)
4:1902742 (GRCh37)
Canonical SPDI:: NC_000004.12:1901014:T:C
Gene:: NSD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1901015T>C, NC_000004.11:g.1902742T>C, NG_009269.1:g.34620T>C, NM_133335.4:c.361T>C, NM_133335.3:c.361T>C, NM_133330.3:c.361T>C, NM_133330.2:c.361T>C, NM_133331.3:c.361T>C, NM_133331.2:c.361T>C, NM_001042424.3:c.361T>C, NM_001042424.2:c.361T>C, NM_133334.2:c.361T>C, NM_007331.2:c.361T>C, NM_007331.1:c.361T>C, XM_005248001.5:c.361T>C, XM_005248001.4:c.361T>C, XM_005248001.3:c.361T>C, XM_005248001.2:c.361T>C, XM_005248001.1:c.361T>C, XM_005248005.4:c.361T>C, XM_005248005.3:c.361T>C, XM_005248005.2:c.361T>C, XM_005248005.1:c.361T>C, XM_005248002.4:c.361T>C, XM_005248002.3:c.361T>C, XM_005248002.2:c.361T>C, XM_005248002.1:c.361T>C, XM_047416144.1:c.361T>C, NM_133332.1:c.361T>C, NM_133333.1:c.361T>C, XM_047416137.1:c.361T>C, XM_047416138.1:c.361T>C, XM_047416139.1:c.361T>C, XM_047416141.1:c.361T>C, XM_047416142.1:c.361T>C, XM_047416143.1:c.361T>C, NM_014919.1:c.361T>C, NP_579890.1:p.Ser121Pro, NP_579877.1:p.Ser121Pro, NP_579878.1:p.Ser121Pro, NP_001035889.1:p.Ser121Pro, NP_579889.1:p.Ser121Pro, NP_015627.1:p.Ser121Pro, XP_005248058.1:p.Ser121Pro, XP_005248062.1:p.Ser121Pro, XP_005248059.1:p.Ser121Pro, XP_047272100.1:p.Ser121Pro, XP_047272093.1:p.Ser121Pro, XP_047272094.1:p.Ser121Pro, XP_047272095.1:p.Ser121Pro, XP_047272097.1:p.Ser121Pro, XP_047272098.1:p.Ser121Pro, XP_047272099.1:p.Ser121Pro

Select item 148550527311.

rs1485505273 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:1946258 (GRCh38)
4:1947985 (GRCh37)
Canonical SPDI:: NC_000004.12:1946257:A:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000057/8 (GnomAD)
HGVS:: NC_000004.12:g.1946258A>T, NC_000004.11:g.1947985A>T, NG_009269.1:g.79863A>T, NM_133334.2:c.*3857A>T, XM_005248005.4:c.*3857A>T, XM_005248005.3:c.*3857A>T, XM_005248005.2:c.*3857A>T, XM_005248005.1:c.*3857A>T, XM_047416144.1:c.*3857A>T

Select item 148507262012.

rs1485072620 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:1918274 (GRCh38)
4:1920001 (GRCh37)
Canonical SPDI:: NC_000004.12:1918273:A:T
Gene:: NSD2 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_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_000004.12:g.1918274A>T, NC_000004.11:g.1920001A>T, NG_009269.1:g.51879A>T, NM_133335.4:c.1061A>T, NM_133335.3:c.1061A>T, NM_133330.3:c.1061A>T, NM_133330.2:c.1061A>T, NM_133331.3:c.1061A>T, NM_133331.2:c.1061A>T, NM_001042424.3:c.1061A>T, NM_001042424.2:c.1061A>T, NM_133334.2:c.1061A>T, NM_007331.2:c.1061A>T, NM_007331.1:c.1061A>T, XM_005248001.5:c.1061A>T, XM_005248001.4:c.1061A>T, XM_005248001.3:c.1061A>T, XM_005248001.2:c.1061A>T, XM_005248001.1:c.1061A>T, XM_005248005.4:c.1061A>T, XM_005248005.3:c.1061A>T, XM_005248005.2:c.1061A>T, XM_005248005.1:c.1061A>T, XM_005248002.4:c.1061A>T, XM_005248002.3:c.1061A>T, XM_005248002.2:c.1061A>T, XM_005248002.1:c.1061A>T, XM_047416144.1:c.1061A>T, NM_133332.1:c.1061A>T, NM_133333.1:c.1061A>T, XM_047416137.1:c.1061A>T, XM_047416138.1:c.1061A>T, XM_047416139.1:c.1061A>T, XM_047416141.1:c.1061A>T, XM_047416142.1:c.1061A>T, XM_047416143.1:c.1061A>T, NM_014919.1:c.1061A>T, NP_579890.1:p.His354Leu, NP_579877.1:p.His354Leu, NP_579878.1:p.His354Leu, NP_001035889.1:p.His354Leu, NP_579889.1:p.His354Leu, NP_015627.1:p.His354Leu, XP_005248058.1:p.His354Leu, XP_005248062.1:p.His354Leu, XP_005248059.1:p.His354Leu, XP_047272100.1:p.His354Leu, XP_047272093.1:p.His354Leu, XP_047272094.1:p.His354Leu, XP_047272095.1:p.His354Leu, XP_047272097.1:p.His354Leu, XP_047272098.1:p.His354Leu, XP_047272099.1:p.His354Leu

Select item 148488119413.

rs1484881194 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:1945644 (GRCh38)
4:1947371 (GRCh37)
Canonical SPDI:: NC_000004.12:1945643:G:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.1945644G>T, NC_000004.11:g.1947371G>T, NG_009269.1:g.79249G>T, NM_133334.2:c.*3243G>T, XM_005248005.4:c.*3243G>T, XM_005248005.3:c.*3243G>T, XM_005248005.2:c.*3243G>T, XM_005248005.1:c.*3243G>T, XM_047416144.1:c.*3243G>T

Select item 148472528914.

rs1484725289 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>- [Show Flanks]
Chromosome:: 4:1943849 (GRCh38)
4:1945576 (GRCh37)
Canonical SPDI:: NC_000004.12:1943847:GGG:G
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000142/2 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000004.12:g.1943849_1943850del, NC_000004.11:g.1945576_1945577del, NG_009269.1:g.77454_77455del, NM_133334.2:c.*1448_*1449del, XM_005248005.4:c.*1448_*1449del, XM_005248005.3:c.*1448_*1449del, XM_005248005.2:c.*1448_*1449del, XM_005248005.1:c.*1448_*1449del, XM_047416144.1:c.*1448_*1449del

Select item 148426010815.

rs1484260108 has merged into rs1209663924 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 4:1944084 (GRCh38)
4:1945811 (GRCh37)
Canonical SPDI:: NC_000004.12:1944083:GGGGGG:GGGGG,NC_000004.12:1944083:GGGGGG:GGGGGGG
Gene:: NSD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGG=0./0 (ALFA)
HGVS:: NC_000004.12:g.1944089del, NC_000004.12:g.1944089dup, NC_000004.11:g.1945816del, NC_000004.11:g.1945816dup, NG_009269.1:g.77694del, NG_009269.1:g.77694dup, NM_133334.2:c.*1688del, NM_133334.2:c.*1688dup, XM_005248005.4:c.*1688del, XM_005248005.4:c.*1688dup, XM_005248005.3:c.*1688del, XM_005248005.3:c.*1688dup, XM_005248005.2:c.*1688del, XM_005248005.2:c.*1688dup, XM_005248005.1:c.*1688del, XM_005248005.1:c.*1688dup, XM_047416144.1:c.*1688del, XM_047416144.1:c.*1688dup

Select item 148337502616.

rs1483375026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:1945512 (GRCh38)
4:1947239 (GRCh37)
Canonical SPDI:: NC_000004.12:1945511:C:T
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.1945512C>T, NC_000004.11:g.1947239C>T, NG_009269.1:g.79117C>T, NM_133334.2:c.*3111C>T, XM_005248005.4:c.*3111C>T, XM_005248005.3:c.*3111C>T, XM_005248005.2:c.*3111C>T, XM_005248005.1:c.*3111C>T, XM_047416144.1:c.*3111C>T

Select item 148077901717.

rs1480779017 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:1942830 (GRCh38)
4:1944557 (GRCh37)
Canonical SPDI:: NC_000004.12:1942829:C:A
Gene:: NSD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_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_000004.12:g.1942830C>A, NC_000004.11:g.1944557C>A, NG_009269.1:g.76435C>A, NM_133334.2:c.*429C>A, XM_005248005.4:c.*429C>A, XM_005248005.3:c.*429C>A, XM_005248005.2:c.*429C>A, XM_005248005.1:c.*429C>A, XM_047416144.1:c.*429C>A

Select item 148023041418.

rs1480230414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:1901041 (GRCh38)
4:1902768 (GRCh37)
Canonical SPDI:: NC_000004.12:1901040:C:G
Gene:: NSD2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.1901041C>G, NC_000004.11:g.1902768C>G, NG_009269.1:g.34646C>G, NM_133335.4:c.387C>G, NM_133335.3:c.387C>G, NM_133330.3:c.387C>G, NM_133330.2:c.387C>G, NM_133331.3:c.387C>G, NM_133331.2:c.387C>G, NM_001042424.3:c.387C>G, NM_001042424.2:c.387C>G, NM_133334.2:c.387C>G, NM_007331.2:c.387C>G, NM_007331.1:c.387C>G, XM_005248001.5:c.387C>G, XM_005248001.4:c.387C>G, XM_005248001.3:c.387C>G, XM_005248001.2:c.387C>G, XM_005248001.1:c.387C>G, XM_005248005.4:c.387C>G, XM_005248005.3:c.387C>G, XM_005248005.2:c.387C>G, XM_005248005.1:c.387C>G, XM_005248002.4:c.387C>G, XM_005248002.3:c.387C>G, XM_005248002.2:c.387C>G, XM_005248002.1:c.387C>G, XM_047416144.1:c.387C>G, NM_133332.1:c.387C>G, NM_133333.1:c.387C>G, XM_047416137.1:c.387C>G, XM_047416138.1:c.387C>G, XM_047416139.1:c.387C>G, XM_047416141.1:c.387C>G, XM_047416142.1:c.387C>G, XM_047416143.1:c.387C>G, NM_014919.1:c.387C>G

Select item 147998736519.

rs1479987365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:1948766 (GRCh38)
4:1950493 (GRCh37)
Canonical SPDI:: NC_000004.12:1948765:A:G
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_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_000004.12:g.1948766A>G, NC_000004.11:g.1950493A>G, NG_009269.1:g.82371A>G, NM_133334.2:c.*6365A>G, XM_005248005.4:c.*6365A>G, XM_005248005.3:c.*6365A>G, XM_005248005.2:c.*6365A>G, XM_005248005.1:c.*6365A>G, XM_047416144.1:c.*6365A>G

Select item 147990984620.

rs1479909846 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:1943248 (GRCh38)
4:1944975 (GRCh37)
Canonical SPDI:: NC_000004.12:1943247:T:C
Gene:: NSD2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,genic_upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000019/5 (TOPMED)
C=0.00005/7 (GnomAD)
HGVS:: NC_000004.12:g.1943248T>C, NC_000004.11:g.1944975T>C, NG_009269.1:g.76853T>C, NM_133334.2:c.*847T>C, XM_005248005.4:c.*847T>C, XM_005248005.3:c.*847T>C, XM_005248005.2:c.*847T>C, XM_005248005.1:c.*847T>C, XM_047416144.1:c.*847T>C

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