SNP Links for Nucleotide (Select 574584555) - SNP

Links from Nucleotide

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Select item 14904026071.

rs1490402607 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:50876643 (GRCh38)
20:49493180 (GRCh37)
Canonical SPDI:: NC_000020.11:50876642:T:A
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.50876643T>A, NC_000020.10:g.49493180T>A, NM_017843.4:c.*108T>A, NM_017843.3:c.*108T>A, NM_198799.4:c.*35T>A, NM_198799.3:c.*35T>A, NM_198799.2:c.*35T>A, XM_011528886.3:c.*181T>A, XM_011528886.2:c.*181T>A, NM_001010974.2:c.*35T>A, NM_001010974.1:c.*35T>A

Select item 14894459362.

rs1489445936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50794970 (GRCh38)
20:49411507 (GRCh37)
Canonical SPDI:: NC_000020.11:50794969:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000023/6 (TOPMED)
HGVS:: NC_000020.11:g.50794970C>T, NC_000020.10:g.49411507C>T, NM_017843.4:c.-24C>T, NM_017843.3:c.-24C>T, XM_011528887.3:c.-24C>T, XM_011528886.3:c.-24C>T, NM_198799.3:c.-24C>T, XM_017027932.2:c.-24C>T, NM_198799.2:c.-24C>T, NM_001010974.2:c.-24C>T, NM_001010974.1:c.-24C>T, XM_047440278.1:c.-24C>T

Select item 14893345583.

rs1489334558 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 20:50876531 (GRCh38)
20:49493068 (GRCh37)
Canonical SPDI:: NC_000020.11:50876530:T:A
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50876531T>A, NC_000020.10:g.49493068T>A, NM_017843.4:c.632T>A, NM_017843.3:c.632T>A, NM_198799.4:c.445T>A, NM_198799.3:c.535T>A, NM_198799.2:c.535T>A, XM_011528887.3:c.535T>A, XM_011528887.2:c.535T>A, XM_011528887.1:c.535T>A, XM_011528886.3:c.*69T>A, XM_011528886.2:c.*69T>A, XM_011528886.1:c.*69T>A, NM_001010974.2:c.400T>A, NM_001010974.1:c.400T>A, NP_060313.3:p.Val211Glu, NP_942094.3:p.Tyr149Asn, XP_011527189.1:p.Tyr179Asn, NP_001010974.1:p.Tyr134Asn

Select item 14830506704.

rs1483050670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50876872 (GRCh38)
20:49493409 (GRCh37)
Canonical SPDI:: NC_000020.11:50876871:C:T
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_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_000020.11:g.50876872C>T, NC_000020.10:g.49493409C>T, NM_017843.4:c.*337C>T, NM_017843.3:c.*337C>T, NM_198799.4:c.*264C>T, NM_198799.3:c.*264C>T, NM_198799.2:c.*264C>T, XM_011528886.3:c.*410C>T, XM_011528886.2:c.*410C>T, NM_001010974.2:c.*264C>T, NM_001010974.1:c.*264C>T

Select item 14817203025.

rs1481720302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50830350 (GRCh38)
20:49446887 (GRCh37)
Canonical SPDI:: NC_000020.11:50830349:T:C
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50830350T>C, NC_000020.10:g.49446887T>C, NM_017843.4:c.324T>C, NM_017843.3:c.324T>C, NM_198799.4:c.234T>C, NM_198799.3:c.324T>C, NM_198799.2:c.324T>C, XM_011528887.3:c.324T>C, XM_011528887.2:c.324T>C, XM_011528887.1:c.324T>C, XM_011528886.3:c.324T>C, XM_011528886.2:c.324T>C, XM_011528886.1:c.324T>C, XM_017027932.2:c.324T>C, XM_017027932.1:c.324T>C, NM_001010974.2:c.324T>C, NM_001010974.1:c.324T>C

Select item 14795779306.

rs1479577930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:50794995 (GRCh38)
20:49411532 (GRCh37)
Canonical SPDI:: NC_000020.11:50794994:T:A,NC_000020.11:50794994:T:C,NC_000020.11:50794994:T:G
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,upstream_transcript_variant,initiator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00009/2 (GnomAD_exomes)
G=0.00062/4 (1000Genomes)
HGVS:: NC_000020.11:g.50794995T>A, NC_000020.11:g.50794995T>C, NC_000020.11:g.50794995T>G, NC_000020.10:g.49411532T>A, NC_000020.10:g.49411532T>C, NC_000020.10:g.49411532T>G, NM_017843.4:c.2T>A, NM_017843.4:c.2T>C, NM_017843.4:c.2T>G, NM_017843.3:c.2T>A, NM_017843.3:c.2T>C, NM_017843.3:c.2T>G, XM_011528887.3:c.2T>A, XM_011528887.3:c.2T>C, XM_011528887.3:c.2T>G, XM_011528887.2:c.2T>A, XM_011528887.2:c.2T>C, XM_011528887.2:c.2T>G, XM_011528887.1:c.2T>A, XM_011528887.1:c.2T>C, XM_011528887.1:c.2T>G, XM_011528886.3:c.2T>A, XM_011528886.3:c.2T>C, XM_011528886.3:c.2T>G, XM_011528886.2:c.2T>A, XM_011528886.2:c.2T>C, XM_011528886.2:c.2T>G, XM_011528886.1:c.2T>A, XM_011528886.1:c.2T>C, XM_011528886.1:c.2T>G, NM_198799.3:c.2T>A, NM_198799.3:c.2T>C, NM_198799.3:c.2T>G, XM_017027932.2:c.2T>A, XM_017027932.2:c.2T>C, XM_017027932.2:c.2T>G, XM_017027932.1:c.2T>A, XM_017027932.1:c.2T>C, XM_017027932.1:c.2T>G, NM_198799.2:c.2T>A, NM_198799.2:c.2T>C, NM_198799.2:c.2T>G, NM_001010974.2:c.2T>A, NM_001010974.2:c.2T>C, NM_001010974.2:c.2T>G, NM_001010974.1:c.2T>A, NM_001010974.1:c.2T>C, NM_001010974.1:c.2T>G, XM_047440278.1:c.2T>A, XM_047440278.1:c.2T>C, XM_047440278.1:c.2T>G, NP_060313.3:p.Met1Lys, NP_060313.3:p.Met1Thr, NP_060313.3:p.Met1Arg, XP_011527189.1:p.Met1Lys, XP_011527189.1:p.Met1Thr, XP_011527189.1:p.Met1Arg, XP_011527188.1:p.Met1Lys, XP_011527188.1:p.Met1Thr, XP_011527188.1:p.Met1Arg, XP_016883421.1:p.Met1Lys, XP_016883421.1:p.Met1Thr, XP_016883421.1:p.Met1Arg, NP_001010974.1:p.Met1Lys, NP_001010974.1:p.Met1Thr, NP_001010974.1:p.Met1Arg, XP_047296234.1:p.Met1Lys, XP_047296234.1:p.Met1Thr, XP_047296234.1:p.Met1Arg

Select item 14736822087.

rs1473682208 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 20:50795118 (GRCh38)
20:49411655 (GRCh37)
Canonical SPDI:: NC_000020.11:50795117:T:A,NC_000020.11:50795117:T:C,NC_000020.11:50795117:T:G
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
G=0.000009/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50795118T>A, NC_000020.11:g.50795118T>C, NC_000020.11:g.50795118T>G, NC_000020.10:g.49411655T>A, NC_000020.10:g.49411655T>C, NC_000020.10:g.49411655T>G, NM_017843.4:c.125T>A, NM_017843.4:c.125T>C, NM_017843.4:c.125T>G, NM_017843.3:c.125T>A, NM_017843.3:c.125T>C, NM_017843.3:c.125T>G, NM_198799.4:c.35T>A, NM_198799.4:c.35T>C, NM_198799.4:c.35T>G, NM_198799.3:c.125T>A, NM_198799.3:c.125T>C, NM_198799.3:c.125T>G, NM_198799.2:c.125T>A, NM_198799.2:c.125T>C, NM_198799.2:c.125T>G, XM_011528887.3:c.125T>A, XM_011528887.3:c.125T>C, XM_011528887.3:c.125T>G, XM_011528887.2:c.125T>A, XM_011528887.2:c.125T>C, XM_011528887.2:c.125T>G, XM_011528887.1:c.125T>A, XM_011528887.1:c.125T>C, XM_011528887.1:c.125T>G, XM_011528886.3:c.125T>A, XM_011528886.3:c.125T>C, XM_011528886.3:c.125T>G, XM_011528886.2:c.125T>A, XM_011528886.2:c.125T>C, XM_011528886.2:c.125T>G, XM_011528886.1:c.125T>A, XM_011528886.1:c.125T>C, XM_011528886.1:c.125T>G, XM_017027932.2:c.125T>A, XM_017027932.2:c.125T>C, XM_017027932.2:c.125T>G, XM_017027932.1:c.125T>A, XM_017027932.1:c.125T>C, XM_017027932.1:c.125T>G, NM_001010974.2:c.125T>A, NM_001010974.2:c.125T>C, NM_001010974.2:c.125T>G, NM_001010974.1:c.125T>A, NM_001010974.1:c.125T>C, NM_001010974.1:c.125T>G, XM_047440278.1:c.125T>A, XM_047440278.1:c.125T>C, XM_047440278.1:c.125T>G, NP_060313.3:p.Met42Lys, NP_060313.3:p.Met42Thr, NP_060313.3:p.Met42Arg, NP_942094.3:p.Met12Lys, NP_942094.3:p.Met12Thr, NP_942094.3:p.Met12Arg, XP_011527189.1:p.Met42Lys, XP_011527189.1:p.Met42Thr, XP_011527189.1:p.Met42Arg, XP_011527188.1:p.Met42Lys, XP_011527188.1:p.Met42Thr, XP_011527188.1:p.Met42Arg, XP_016883421.1:p.Met42Lys, XP_016883421.1:p.Met42Thr, XP_016883421.1:p.Met42Arg, NP_001010974.1:p.Met42Lys, NP_001010974.1:p.Met42Thr, NP_001010974.1:p.Met42Arg, XP_047296234.1:p.Met42Lys, XP_047296234.1:p.Met42Thr, XP_047296234.1:p.Met42Arg

Select item 14716993908.

rs1471699390 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50794975 (GRCh38)
20:49411512 (GRCh37)
Canonical SPDI:: NC_000020.11:50794974:G:A
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.50794975G>A, NC_000020.10:g.49411512G>A, NM_017843.4:c.-19G>A, NM_017843.3:c.-19G>A, XM_011528887.3:c.-19G>A, XM_011528887.2:c.-19G>A, XM_011528887.1:c.-19G>A, XM_011528886.3:c.-19G>A, XM_011528886.2:c.-19G>A, XM_011528886.1:c.-19G>A, NM_198799.3:c.-19G>A, XM_017027932.2:c.-19G>A, XM_017027932.1:c.-19G>A, NM_198799.2:c.-19G>A, NM_001010974.2:c.-19G>A, NM_001010974.1:c.-19G>A, XM_047440278.1:c.-19G>A

Select item 14699308989.

rs1469930898 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:50795062 (GRCh38)
20:49411599 (GRCh37)
Canonical SPDI:: NC_000020.11:50795061:G:C
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_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_000020.11:g.50795062G>C, NC_000020.10:g.49411599G>C, NM_017843.4:c.69G>C, NM_017843.3:c.69G>C, NM_198799.4:c.-22G>C, NM_198799.3:c.69G>C, NM_198799.2:c.69G>C, XM_011528887.3:c.69G>C, XM_011528887.2:c.69G>C, XM_011528887.1:c.69G>C, XM_011528886.3:c.69G>C, XM_011528886.2:c.69G>C, XM_011528886.1:c.69G>C, XM_017027932.2:c.69G>C, XM_017027932.1:c.69G>C, NM_001010974.2:c.69G>C, NM_001010974.1:c.69G>C, XM_047440278.1:c.69G>C, NP_060313.3:p.Gln23His, XP_011527189.1:p.Gln23His, XP_011527188.1:p.Gln23His, XP_016883421.1:p.Gln23His, NP_001010974.1:p.Gln23His, XP_047296234.1:p.Gln23His

Select item 146964847610.

rs1469648476 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50795052 (GRCh38)
20:49411589 (GRCh37)
Canonical SPDI:: NC_000020.11:50795051:G:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
HGVS:: NC_000020.11:g.50795052G>T, NC_000020.10:g.49411589G>T, NM_017843.4:c.59G>T, NM_017843.3:c.59G>T, XM_011528887.3:c.59G>T, XM_011528887.2:c.59G>T, XM_011528887.1:c.59G>T, XM_011528886.3:c.59G>T, XM_011528886.2:c.59G>T, XM_011528886.1:c.59G>T, NM_198799.3:c.59G>T, XM_017027932.2:c.59G>T, XM_017027932.1:c.59G>T, NM_198799.2:c.59G>T, NM_001010974.2:c.59G>T, NM_001010974.1:c.59G>T, XM_047440278.1:c.59G>T, NP_060313.3:p.Ser20Ile, XP_011527189.1:p.Ser20Ile, XP_011527188.1:p.Ser20Ile, XP_016883421.1:p.Ser20Ile, NP_001010974.1:p.Ser20Ile, XP_047296234.1:p.Ser20Ile

Select item 145939342111.

rs1459393421 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50794949 (GRCh38)
20:49411486 (GRCh37)
Canonical SPDI:: NC_000020.11:50794948:G:T
Gene:: BCAS4 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.50794949G>T, NC_000020.10:g.49411486G>T, NM_017843.4:c.-45G>T, NM_017843.3:c.-45G>T, XM_011528887.3:c.-45G>T, XM_011528886.3:c.-45G>T, NM_198799.3:c.-45G>T, XM_017027932.2:c.-45G>T, NM_198799.2:c.-45G>T, NM_001010974.2:c.-45G>T, NM_001010974.1:c.-45G>T, XM_047440278.1:c.-45G>T

Select item 145869300512.

rs1458693005 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGG>-,GG,GGGG [Show Flanks]
Chromosome:: 20:50876670 (GRCh38)
20:49493207 (GRCh37)
Canonical SPDI:: NC_000020.11:50876667:GGGGG:GG,NC_000020.11:50876667:GGGGG:GGGG,NC_000020.11:50876667:GGGGG:GGGGGG
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
G=0.000223/1 (Estonian)
G=0.000228/32 (GnomAD)
G=0.000242/64 (TOPMED)
G=0.000468/3 (1000Genomes)
HGVS:: NC_000020.11:g.50876670_50876672del, NC_000020.11:g.50876672del, NC_000020.11:g.50876672dup, NC_000020.10:g.49493207_49493209del, NC_000020.10:g.49493209del, NC_000020.10:g.49493209dup, NM_017843.4:c.*135_*137del, NM_017843.4:c.*137del, NM_017843.4:c.*137dup, NM_017843.3:c.*135_*137del, NM_017843.3:c.*137del, NM_017843.3:c.*137dup, NM_198799.4:c.*62_*64del, NM_198799.4:c.*64del, NM_198799.4:c.*64dup, NM_198799.3:c.*62_*64del, NM_198799.3:c.*64del, NM_198799.3:c.*64dup, NM_198799.2:c.*62_*64del, NM_198799.2:c.*64del, NM_198799.2:c.*64dup, XM_011528886.3:c.*208_*210del, XM_011528886.3:c.*210del, XM_011528886.3:c.*210dup, XM_011528886.2:c.*208_*210del, XM_011528886.2:c.*210del, XM_011528886.2:c.*210dup, NM_001010974.2:c.*62_*64del, NM_001010974.2:c.*64del, NM_001010974.2:c.*64dup, NM_001010974.1:c.*62_*64del, NM_001010974.1:c.*64del, NM_001010974.1:c.*64dup

Select item 145660284913.

rs1456602849 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50876775 (GRCh38)
20:49493312 (GRCh37)
Canonical SPDI:: NC_000020.11:50876774:C:T
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000020.11:g.50876775C>T, NC_000020.10:g.49493312C>T, NM_017843.4:c.*240C>T, NM_017843.3:c.*240C>T, NM_198799.4:c.*167C>T, NM_198799.3:c.*167C>T, NM_198799.2:c.*167C>T, XM_011528886.3:c.*313C>T, XM_011528886.2:c.*313C>T, NM_001010974.2:c.*167C>T, NM_001010974.1:c.*167C>T

Select item 145293437914.

rs1452934379 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:50795133 (GRCh38)
20:49411670 (GRCh37)
Canonical SPDI:: NC_000020.11:50795132:G:A,NC_000020.11:50795132:G:C
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.50795133G>A, NC_000020.11:g.50795133G>C, NC_000020.10:g.49411670G>A, NC_000020.10:g.49411670G>C, NM_017843.4:c.140G>A, NM_017843.4:c.140G>C, NM_017843.3:c.140G>A, NM_017843.3:c.140G>C, NM_198799.4:c.50G>A, NM_198799.4:c.50G>C, NM_198799.3:c.140G>A, NM_198799.3:c.140G>C, NM_198799.2:c.140G>A, NM_198799.2:c.140G>C, XM_011528887.3:c.140G>A, XM_011528887.3:c.140G>C, XM_011528887.2:c.140G>A, XM_011528887.2:c.140G>C, XM_011528887.1:c.140G>A, XM_011528887.1:c.140G>C, XM_011528886.3:c.140G>A, XM_011528886.3:c.140G>C, XM_011528886.2:c.140G>A, XM_011528886.2:c.140G>C, XM_011528886.1:c.140G>A, XM_011528886.1:c.140G>C, XM_017027932.2:c.140G>A, XM_017027932.2:c.140G>C, XM_017027932.1:c.140G>A, XM_017027932.1:c.140G>C, NM_001010974.2:c.140G>A, NM_001010974.2:c.140G>C, NM_001010974.1:c.140G>A, NM_001010974.1:c.140G>C, XM_047440278.1:c.140G>A, XM_047440278.1:c.140G>C, NP_060313.3:p.Arg47His, NP_060313.3:p.Arg47Pro, NP_942094.3:p.Arg17His, NP_942094.3:p.Arg17Pro, XP_011527189.1:p.Arg47His, XP_011527189.1:p.Arg47Pro, XP_011527188.1:p.Arg47His, XP_011527188.1:p.Arg47Pro, XP_016883421.1:p.Arg47His, XP_016883421.1:p.Arg47Pro, NP_001010974.1:p.Arg47His, NP_001010974.1:p.Arg47Pro, XP_047296234.1:p.Arg47His, XP_047296234.1:p.Arg47Pro

Select item 144820922315.

rs1448209223 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50795140 (GRCh38)
20:49411677 (GRCh37)
Canonical SPDI:: NC_000020.11:50795139:C:T
Gene:: BCAS4 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50795140C>T, NC_000020.10:g.49411677C>T, NM_017843.4:c.147C>T, NM_017843.3:c.147C>T, NM_198799.4:c.57C>T, NM_198799.3:c.147C>T, NM_198799.2:c.147C>T, XM_011528887.3:c.147C>T, XM_011528887.2:c.147C>T, XM_011528887.1:c.147C>T, XM_011528886.3:c.147C>T, XM_011528886.2:c.147C>T, XM_011528886.1:c.147C>T, XM_017027932.2:c.147C>T, XM_017027932.1:c.147C>T, NM_001010974.2:c.147C>T, NM_001010974.1:c.147C>T, XM_047440278.1:c.147C>T

Select item 144762749116.

rs1447627491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:50795171 (GRCh38)
20:49411708 (GRCh37)
Canonical SPDI:: NC_000020.11:50795170:G:A
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.50795171G>A, NC_000020.10:g.49411708G>A, NM_017843.4:c.178G>A, NM_017843.3:c.178G>A, NM_198799.4:c.88G>A, NM_198799.3:c.178G>A, NM_198799.2:c.178G>A, XM_011528887.3:c.178G>A, XM_011528887.2:c.178G>A, XM_011528887.1:c.178G>A, XM_011528886.3:c.178G>A, XM_011528886.2:c.178G>A, XM_011528886.1:c.178G>A, XM_017027932.2:c.178G>A, XM_017027932.1:c.178G>A, NM_001010974.2:c.178G>A, NM_001010974.1:c.178G>A, XM_047440278.1:c.178G>A, NP_060313.3:p.Glu60Lys, NP_942094.3:p.Glu30Lys, XP_011527189.1:p.Glu60Lys, XP_011527188.1:p.Glu60Lys, XP_016883421.1:p.Glu60Lys, NP_001010974.1:p.Glu60Lys, XP_047296234.1:p.Glu60Lys

Select item 144739950217.

rs1447399502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:50830322 (GRCh38)
20:49446859 (GRCh37)
Canonical SPDI:: NC_000020.11:50830321:T:G
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,downstream_transcript_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_000020.11:g.50830322T>G, NC_000020.10:g.49446859T>G, NM_017843.4:c.296T>G, NM_017843.3:c.296T>G, NM_198799.4:c.206T>G, NM_198799.3:c.296T>G, NM_198799.2:c.296T>G, XM_011528887.3:c.296T>G, XM_011528887.2:c.296T>G, XM_011528887.1:c.296T>G, XM_011528886.3:c.296T>G, XM_011528886.2:c.296T>G, XM_011528886.1:c.296T>G, XM_017027932.2:c.296T>G, XM_017027932.1:c.296T>G, NM_001010974.2:c.296T>G, NM_001010974.1:c.296T>G, NP_060313.3:p.Val99Gly, NP_942094.3:p.Val69Gly, XP_011527189.1:p.Val99Gly, XP_011527188.1:p.Val99Gly, XP_016883421.1:p.Val99Gly, NP_001010974.1:p.Val99Gly

Select item 144658493518.

rs1446584935 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:50876622 (GRCh38)
20:49493159 (GRCh37)
Canonical SPDI:: NC_000020.11:50876621:C:T
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50876622C>T, NC_000020.10:g.49493159C>T, NM_017843.4:c.*87C>T, NM_017843.3:c.*87C>T, NM_198799.4:c.*14C>T, NM_198799.3:c.*14C>T, NM_198799.2:c.*14C>T, XM_011528886.3:c.*160C>T, XM_011528886.2:c.*160C>T, NM_001010974.2:c.*14C>T, NM_001010974.1:c.*14C>T

Select item 144405801219.

rs1444058012 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:50795168 (GRCh38)
20:49411705 (GRCh37)
Canonical SPDI:: NC_000020.11:50795167:G:T
Gene:: BCAS4 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.50795168G>T, NC_000020.10:g.49411705G>T, NM_017843.4:c.175G>T, NM_017843.3:c.175G>T, NM_198799.4:c.85G>T, NM_198799.3:c.175G>T, NM_198799.2:c.175G>T, XM_011528887.3:c.175G>T, XM_011528887.2:c.175G>T, XM_011528887.1:c.175G>T, XM_011528886.3:c.175G>T, XM_011528886.2:c.175G>T, XM_011528886.1:c.175G>T, XM_017027932.2:c.175G>T, XM_017027932.1:c.175G>T, NM_001010974.2:c.175G>T, NM_001010974.1:c.175G>T, XM_047440278.1:c.175G>T, NP_060313.3:p.Ala59Ser, NP_942094.3:p.Ala29Ser, XP_011527189.1:p.Ala59Ser, XP_011527188.1:p.Ala59Ser, XP_016883421.1:p.Ala59Ser, NP_001010974.1:p.Ala59Ser, XP_047296234.1:p.Ala59Ser

Select item 144329545720.

rs1443295457 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:50876533 (GRCh38)
20:49493070 (GRCh37)
Canonical SPDI:: NC_000020.11:50876532:T:C
Gene:: BCAS4 (Varview), LOC124904929 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,3_prime_UTR_variant,synonymous_variant,2KB_upstream_variant,stop_lost,terminator_codon_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.50876533T>C, NC_000020.10:g.49493070T>C, NM_017843.4:c.634T>C, NM_017843.3:c.634T>C, NM_198799.4:c.447T>C, NM_198799.3:c.537T>C, NM_198799.2:c.537T>C, XM_011528887.3:c.537T>C, XM_011528887.2:c.537T>C, XM_011528887.1:c.537T>C, XM_011528886.3:c.*71T>C, XM_011528886.2:c.*71T>C, XM_011528886.1:c.*71T>C, NM_001010974.2:c.402T>C, NM_001010974.1:c.402T>C, NP_060313.3:p.Ter212Gln

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