SNP Links for Nucleotide (Select 1049017938) - SNP

Links from Nucleotide

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Select item 14892175191.

rs1489217519 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29487364 (GRCh38)
6:29455141 (GRCh37)
Canonical SPDI:: NC_000006.12:29487363:C:T
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,stop_gained,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487364C>T, NC_000006.11:g.29455141C>T, NT_113891.3:g.973816C>T, NT_113891.2:g.973922C>T, NT_167248.2:g.752830C>T, NT_167248.1:g.758426C>T, NT_167245.2:g.752887C>T, NT_167245.1:g.758472C>T, NT_167249.2:g.796375C>T, NT_167249.1:g.795673C>T, NT_167246.2:g.752489C>T, NT_167246.1:g.758109C>T, NT_167247.2:g.752738C>T, NT_167247.1:g.758323C>T, NT_167244.2:g.753025C>T, NT_167244.1:g.758619C>T, NM_052967.2:c.539G>A, NM_052967.1:c.539G>A, NP_443199.1:p.Trp180Ter

Select item 14889114902.

rs1488911490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:29487517 (GRCh38)
6:29455294 (GRCh37)
Canonical SPDI:: NC_000006.12:29487516:C:G
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29487517C>G, NC_000006.11:g.29455294C>G, NT_113891.3:g.973969C>G, NT_113891.2:g.974075C>G, NT_167248.2:g.752983C>G, NT_167248.1:g.758579C>G, NT_167245.2:g.753040C>G, NT_167245.1:g.758625C>G, NT_167249.2:g.796528C>G, NT_167249.1:g.795826C>G, NT_167246.2:g.752642C>G, NT_167246.1:g.758262C>G, NT_167247.2:g.752891C>G, NT_167247.1:g.758476C>G, NT_167244.2:g.753178C>G, NT_167244.1:g.758772C>G, NM_052967.2:c.386G>C, NM_052967.1:c.386G>C, NP_443199.1:p.Gly129Ala

Select item 14864104603.

rs1486410460 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 6:29487303 (GRCh38)
6:29455081 (GRCh37)
Canonical SPDI:: NC_000006.12:29487303:A:ATA
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: AT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487304_29487305insTA, NC_000006.11:g.29455081_29455082insTA, NT_113891.3:g.973756_973757insTA, NT_113891.2:g.973862_973863insTA, NT_167248.2:g.752770_752771insTA, NT_167248.1:g.758366_758367insTA, NT_167245.2:g.752827_752828insTA, NT_167245.1:g.758412_758413insTA, NT_167249.2:g.796315_796316insTA, NT_167249.1:g.795613_795614insTA, NT_167246.2:g.752429_752430insTA, NT_167246.1:g.758049_758050insTA, NT_167247.2:g.752678_752679insTA, NT_167247.1:g.758263_758264insTA, NT_167244.2:g.752965_752966insTA, NT_167244.1:g.758559_758560insTA, NM_052967.2:c.599_600insAT, NM_052967.1:c.599_600insAT, NP_443199.1:p.Pro201fs

Select item 14849875944.

rs1484987594 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:29487894 (GRCh38)
6:29455671 (GRCh37)
Canonical SPDI:: NC_000006.12:29487893:C:A,NC_000006.12:29487893:C:T
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,stop_gained,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29487894C>A, NC_000006.12:g.29487894C>T, NC_000006.11:g.29455671C>A, NC_000006.11:g.29455671C>T, NT_113891.3:g.974346C>A, NT_113891.3:g.974346C>T, NT_113891.2:g.974452C>A, NT_113891.2:g.974452C>T, NT_167248.2:g.753360C>A, NT_167248.2:g.753360C>T, NT_167248.1:g.758956C>A, NT_167248.1:g.758956C>T, NT_167245.2:g.753417C>A, NT_167245.2:g.753417C>T, NT_167245.1:g.759002C>A, NT_167245.1:g.759002C>T, NT_167249.2:g.796905C>A, NT_167249.2:g.796905C>T, NT_167249.1:g.796203C>A, NT_167249.1:g.796203C>T, NT_167246.2:g.753019C>A, NT_167246.2:g.753019C>T, NT_167246.1:g.758639C>A, NT_167246.1:g.758639C>T, NT_167247.2:g.753268C>A, NT_167247.2:g.753268C>T, NT_167247.1:g.758853C>A, NT_167247.1:g.758853C>T, NT_167244.2:g.753555C>A, NT_167244.2:g.753555C>T, NT_167244.1:g.759149C>A, NT_167244.1:g.759149C>T, NM_052967.2:c.9G>T, NM_052967.2:c.9G>A, NM_052967.1:c.9G>T, NM_052967.1:c.9G>A, NP_443199.1:p.Trp3Cys, NP_443199.1:p.Trp3Ter

Select item 14841348365.

rs1484134836 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:29487050 (GRCh38)
6:29454827 (GRCh37)
Canonical SPDI:: NC_000006.12:29487049:G:A,NC_000006.12:29487049:G:C
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29487050G>A, NC_000006.12:g.29487050G>C, NC_000006.11:g.29454827G>A, NC_000006.11:g.29454827G>C, NT_113891.3:g.973502G>A, NT_113891.3:g.973502G>C, NT_113891.2:g.973608G>A, NT_113891.2:g.973608G>C, NT_167248.2:g.752516G>A, NT_167248.2:g.752516G>C, NT_167248.1:g.758112G>A, NT_167248.1:g.758112G>C, NT_167245.2:g.752573G>A, NT_167245.2:g.752573G>C, NT_167245.1:g.758158G>A, NT_167245.1:g.758158G>C, NT_167249.2:g.796061G>A, NT_167249.2:g.796061G>C, NT_167249.1:g.795359G>A, NT_167249.1:g.795359G>C, NT_167246.2:g.752175G>A, NT_167246.2:g.752175G>C, NT_167246.1:g.757795G>A, NT_167246.1:g.757795G>C, NT_167247.2:g.752424G>A, NT_167247.2:g.752424G>C, NT_167247.1:g.758009G>A, NT_167247.1:g.758009G>C, NT_167244.2:g.752711G>A, NT_167244.2:g.752711G>C, NT_167244.1:g.758305G>A, NT_167244.1:g.758305G>C, NM_052967.2:c.853C>T, NM_052967.2:c.853C>G, NM_052967.1:c.853C>T, NM_052967.1:c.853C>G, NP_443199.1:p.Leu285Phe, NP_443199.1:p.Leu285Val

Select item 14777147526.

rs1477714752 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29487126 (GRCh38)
6:29454903 (GRCh37)
Canonical SPDI:: NC_000006.12:29487125:G:A
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487126G>A, NC_000006.11:g.29454903G>A, NT_113891.3:g.973578G>A, NT_113891.2:g.973684G>A, NT_167248.2:g.752592G>A, NT_167248.1:g.758188G>A, NT_167245.2:g.752649G>A, NT_167245.1:g.758234G>A, NT_167249.2:g.796137G>A, NT_167249.1:g.795435G>A, NT_167246.2:g.752251G>A, NT_167246.1:g.757871G>A, NT_167247.2:g.752500G>A, NT_167247.1:g.758085G>A, NT_167244.2:g.752787G>A, NT_167244.1:g.758381G>A, NM_052967.2:c.777C>T, NM_052967.1:c.777C>T

Select item 14754363767.

rs1475436376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:29487477 (GRCh38)
6:29455254 (GRCh37)
Canonical SPDI:: NC_000006.12:29487476:C:T
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29487477C>T, NC_000006.11:g.29455254C>T, NT_113891.3:g.973929C>T, NT_113891.2:g.974035C>T, NT_167248.2:g.752943C>T, NT_167248.1:g.758539C>T, NT_167245.2:g.753000C>T, NT_167245.1:g.758585C>T, NT_167249.2:g.796488C>T, NT_167249.1:g.795786C>T, NT_167246.2:g.752602C>T, NT_167246.1:g.758222C>T, NT_167247.2:g.752851C>T, NT_167247.1:g.758436C>T, NT_167244.2:g.753138C>T, NT_167244.1:g.758732C>T, NM_052967.2:c.426G>A, NM_052967.1:c.426G>A

Select item 14747279678.

rs1474727967 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:29487577 (GRCh38)
6:29455354 (GRCh37)
Canonical SPDI:: NC_000006.12:29487576:A:G
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.29487577A>G, NC_000006.11:g.29455354A>G, NT_113891.3:g.974029A>G, NT_113891.2:g.974135A>G, NT_167248.2:g.753043A>G, NT_167248.1:g.758639A>G, NT_167245.2:g.753100A>G, NT_167245.1:g.758685A>G, NT_167249.2:g.796588A>G, NT_167249.1:g.795886A>G, NT_167246.2:g.752702A>G, NT_167246.1:g.758322A>G, NT_167247.2:g.752951A>G, NT_167247.1:g.758536A>G, NT_167244.2:g.753238A>G, NT_167244.1:g.758832A>G, NM_052967.2:c.326T>C, NM_052967.1:c.326T>C, NP_443199.1:p.Met109Thr

Select item 14730833029.

rs1473083302 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:29486836 (GRCh38)
6:29454613 (GRCh37)
Canonical SPDI:: NC_000006.12:29486835:T:C
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29486836T>C, NC_000006.11:g.29454613T>C, NT_113891.3:g.973288T>C, NT_113891.2:g.973394T>C, NT_167248.2:g.752302T>C, NT_167248.1:g.757898T>C, NT_167245.2:g.752359T>C, NT_167245.1:g.757944T>C, NT_167249.2:g.795847T>C, NT_167249.1:g.795145T>C, NT_167246.2:g.751961T>C, NT_167246.1:g.757581T>C, NT_167247.2:g.752210T>C, NT_167247.1:g.757795T>C, NT_167244.2:g.752497T>C, NT_167244.1:g.758091T>C, NM_052967.2:c.1067A>G, NM_052967.1:c.1067A>G, NP_443199.1:p.Glu356Gly

Select item 147242535810.

rs1472425358 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:29487470 (GRCh38)
6:29455247 (GRCh37)
Canonical SPDI:: NC_000006.12:29487469:T:C,NC_000006.12:29487469:T:G
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29487470T>C, NC_000006.12:g.29487470T>G, NC_000006.11:g.29455247T>C, NC_000006.11:g.29455247T>G, NT_113891.3:g.973922T>C, NT_113891.3:g.973922T>G, NT_113891.2:g.974028T>C, NT_113891.2:g.974028T>G, NT_167248.2:g.752936T>C, NT_167248.2:g.752936T>G, NT_167248.1:g.758532T>C, NT_167248.1:g.758532T>G, NT_167245.2:g.752993T>C, NT_167245.2:g.752993T>G, NT_167245.1:g.758578T>C, NT_167245.1:g.758578T>G, NT_167249.2:g.796481T>C, NT_167249.2:g.796481T>G, NT_167249.1:g.795779T>C, NT_167249.1:g.795779T>G, NT_167246.2:g.752595T>C, NT_167246.2:g.752595T>G, NT_167246.1:g.758215T>C, NT_167246.1:g.758215T>G, NT_167247.2:g.752844T>C, NT_167247.2:g.752844T>G, NT_167247.1:g.758429T>C, NT_167247.1:g.758429T>G, NT_167244.2:g.753131T>C, NT_167244.2:g.753131T>G, NT_167244.1:g.758725T>C, NT_167244.1:g.758725T>G, NM_052967.2:c.433A>G, NM_052967.2:c.433A>C, NM_052967.1:c.433A>G, NM_052967.1:c.433A>C, NP_443199.1:p.Ile145Val, NP_443199.1:p.Ile145Leu

Select item 147125558811.

rs1471255588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:29487810 (GRCh38)
6:29455587 (GRCh37)
Canonical SPDI:: NC_000006.12:29487809:G:T
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,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_000006.12:g.29487810G>T, NC_000006.11:g.29455587G>T, NT_113891.3:g.974262G>T, NT_113891.2:g.974368G>T, NT_167248.2:g.753276G>T, NT_167248.1:g.758872G>T, NT_167245.2:g.753333G>T, NT_167245.1:g.758918G>T, NT_167249.2:g.796821G>T, NT_167249.1:g.796119G>T, NT_167246.2:g.752935G>T, NT_167246.1:g.758555G>T, NT_167247.2:g.753184G>T, NT_167247.1:g.758769G>T, NT_167244.2:g.753471G>T, NT_167244.1:g.759065G>T, NM_052967.2:c.93C>A, NM_052967.1:c.93C>A

Select item 146909249212.

rs1469092492 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAC>- [Show Flanks]
Chromosome:: 6:29487803 (GRCh38)
6:29455580 (GRCh37)
Canonical SPDI:: NC_000006.12:29487799:CACCAC:CAC
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487800CAC[1], NC_000006.11:g.29455577CAC[1], NT_113891.3:g.974252CAC[1], NT_113891.2:g.974358CAC[1], NT_167248.2:g.753266CAC[1], NT_167248.1:g.758862CAC[1], NT_167245.2:g.753323CAC[1], NT_167245.1:g.758908CAC[1], NT_167249.2:g.796811CAC[1], NT_167249.1:g.796109CAC[1], NT_167246.2:g.752925CAC[1], NT_167246.1:g.758545CAC[1], NT_167247.2:g.753174CAC[1], NT_167247.1:g.758759CAC[1], NT_167244.2:g.753461CAC[1], NT_167244.1:g.759055CAC[1], NM_052967.2:c.98GTG[1], NM_052967.1:c.98GTG[1], NP_443199.1:p.Gly34del

Select item 146907171213.

rs1469071712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:29487078 (GRCh38)
6:29454855 (GRCh37)
Canonical SPDI:: NC_000006.12:29487077:G:A,NC_000006.12:29487077:G:C
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000011/3 (TOPMED)
A=0.000025/3 (GnomAD)
HGVS:: NC_000006.12:g.29487078G>A, NC_000006.12:g.29487078G>C, NC_000006.11:g.29454855G>A, NC_000006.11:g.29454855G>C, NT_113891.3:g.973530G>A, NT_113891.3:g.973530G>C, NT_113891.2:g.973636G>A, NT_113891.2:g.973636G>C, NT_167248.2:g.752544G>A, NT_167248.2:g.752544G>C, NT_167248.1:g.758140G>A, NT_167248.1:g.758140G>C, NT_167245.2:g.752601G>A, NT_167245.2:g.752601G>C, NT_167245.1:g.758186G>A, NT_167245.1:g.758186G>C, NT_167249.2:g.796089G>A, NT_167249.2:g.796089G>C, NT_167249.1:g.795387G>A, NT_167249.1:g.795387G>C, NT_167246.2:g.752203G>A, NT_167246.2:g.752203G>C, NT_167246.1:g.757823G>A, NT_167246.1:g.757823G>C, NT_167247.2:g.752452G>A, NT_167247.2:g.752452G>C, NT_167247.1:g.758037G>A, NT_167247.1:g.758037G>C, NT_167244.2:g.752739G>A, NT_167244.2:g.752739G>C, NT_167244.1:g.758333G>A, NT_167244.1:g.758333G>C, NM_052967.2:c.825C>T, NM_052967.2:c.825C>G, NM_052967.1:c.825C>T, NM_052967.1:c.825C>G

Select item 146833080514.

rs1468330805 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:29487319 (GRCh38)
6:29455096 (GRCh37)
Canonical SPDI:: NC_000006.12:29487318:G:T
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29487319G>T, NC_000006.11:g.29455096G>T, NT_113891.3:g.973771G>T, NT_113891.2:g.973877G>T, NT_167248.2:g.752785G>T, NT_167248.1:g.758381G>T, NT_167245.2:g.752842G>T, NT_167245.1:g.758427G>T, NT_167249.2:g.796330G>T, NT_167249.1:g.795628G>T, NT_167246.2:g.752444G>T, NT_167246.1:g.758064G>T, NT_167247.2:g.752693G>T, NT_167247.1:g.758278G>T, NT_167244.2:g.752980G>T, NT_167244.1:g.758574G>T, NM_052967.2:c.584C>A, NM_052967.1:c.584C>A, NP_443199.1:p.Thr195Asn

Select item 146478850715.

rs1464788507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29487832 (GRCh38)
6:29455609 (GRCh37)
Canonical SPDI:: NC_000006.12:29487831:G:A
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487832G>A, NC_000006.11:g.29455609G>A, NT_113891.3:g.974284G>A, NT_113891.2:g.974390G>A, NT_167248.2:g.753298G>A, NT_167248.1:g.758894G>A, NT_167245.2:g.753355G>A, NT_167245.1:g.758940G>A, NT_167249.2:g.796843G>A, NT_167249.1:g.796141G>A, NT_167246.2:g.752957G>A, NT_167246.1:g.758577G>A, NT_167247.2:g.753206G>A, NT_167247.1:g.758791G>A, NT_167244.2:g.753493G>A, NT_167244.1:g.759087G>A, NM_052967.2:c.71C>T, NM_052967.1:c.71C>T, NP_443199.1:p.Ser24Phe

Select item 146472153816.

rs1464721538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 6:29487093 (GRCh38)
6:29454870 (GRCh37)
Canonical SPDI:: NC_000006.12:29487092:G:A,NC_000006.12:29487092:G:C
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000456/11 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.29487093G>A, NC_000006.12:g.29487093G>C, NC_000006.11:g.29454870G>A, NC_000006.11:g.29454870G>C, NT_113891.3:g.973545G>A, NT_113891.3:g.973545G>C, NT_113891.2:g.973651G>A, NT_113891.2:g.973651G>C, NT_167248.2:g.752559G>A, NT_167248.2:g.752559G>C, NT_167248.1:g.758155G>A, NT_167248.1:g.758155G>C, NT_167245.2:g.752616G>A, NT_167245.2:g.752616G>C, NT_167245.1:g.758201G>A, NT_167245.1:g.758201G>C, NT_167249.2:g.796104G>A, NT_167249.2:g.796104G>C, NT_167249.1:g.795402G>A, NT_167249.1:g.795402G>C, NT_167246.2:g.752218G>A, NT_167246.2:g.752218G>C, NT_167246.1:g.757838G>A, NT_167246.1:g.757838G>C, NT_167247.2:g.752467G>A, NT_167247.2:g.752467G>C, NT_167247.1:g.758052G>A, NT_167247.1:g.758052G>C, NT_167244.2:g.752754G>A, NT_167244.2:g.752754G>C, NT_167244.1:g.758348G>A, NT_167244.1:g.758348G>C, NM_052967.2:c.810C>T, NM_052967.2:c.810C>G, NM_052967.1:c.810C>T, NM_052967.1:c.810C>G

Select item 146324686817.

rs1463246868 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 6:29487917 (GRCh38)
6:29455694 (GRCh37)
Canonical SPDI:: NC_000006.12:29487916:T:C,NC_000006.12:29487916:T:G
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.29487917T>C, NC_000006.12:g.29487917T>G, NC_000006.11:g.29455694T>C, NC_000006.11:g.29455694T>G, NT_113891.3:g.974369T>C, NT_113891.3:g.974369T>G, NT_113891.2:g.974475T>C, NT_113891.2:g.974475T>G, NT_167248.2:g.753383T>C, NT_167248.2:g.753383T>G, NT_167248.1:g.758979T>C, NT_167248.1:g.758979T>G, NT_167245.2:g.753440T>C, NT_167245.2:g.753440T>G, NT_167245.1:g.759025T>C, NT_167245.1:g.759025T>G, NT_167249.2:g.796928T>C, NT_167249.2:g.796928T>G, NT_167249.1:g.796226T>C, NT_167249.1:g.796226T>G, NT_167246.2:g.753042T>C, NT_167246.2:g.753042T>G, NT_167246.1:g.758662T>C, NT_167246.1:g.758662T>G, NT_167247.2:g.753291T>C, NT_167247.2:g.753291T>G, NT_167247.1:g.758876T>C, NT_167247.1:g.758876T>G, NT_167244.2:g.753578T>C, NT_167244.2:g.753578T>G, NT_167244.1:g.759172T>C, NT_167244.1:g.759172T>G, NM_052967.2:c.-15A>G, NM_052967.2:c.-15A>C

Select item 146319900718.

rs1463199007 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29487392 (GRCh38)
6:29455169 (GRCh37)
Canonical SPDI:: NC_000006.12:29487391:G:A
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.00002/5 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.29487392G>A, NC_000006.11:g.29455169G>A, NT_113891.3:g.973844G>A, NT_113891.2:g.973950G>A, NT_167248.2:g.752858G>A, NT_167248.1:g.758454G>A, NT_167245.2:g.752915G>A, NT_167245.1:g.758500G>A, NT_167249.2:g.796403G>A, NT_167249.1:g.795701G>A, NT_167246.2:g.752517G>A, NT_167246.1:g.758137G>A, NT_167247.2:g.752766G>A, NT_167247.1:g.758351G>A, NT_167244.2:g.753053G>A, NT_167244.1:g.758647G>A, NM_052967.2:c.511C>T, NM_052967.1:c.511C>T, NP_443199.1:p.Arg171Trp

Select item 146287450719.

rs1462874507 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:29487650 (GRCh38)
6:29455427 (GRCh37)
Canonical SPDI:: NC_000006.12:29487649:C:A
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.29487650C>A, NC_000006.11:g.29455427C>A, NT_113891.3:g.974102C>A, NT_113891.2:g.974208C>A, NT_167248.2:g.753116C>A, NT_167248.1:g.758712C>A, NT_167245.2:g.753173C>A, NT_167245.1:g.758758C>A, NT_167249.2:g.796661C>A, NT_167249.1:g.795959C>A, NT_167246.2:g.752775C>A, NT_167246.1:g.758395C>A, NT_167247.2:g.753024C>A, NT_167247.1:g.758609C>A, NT_167244.2:g.753311C>A, NT_167244.1:g.758905C>A, NM_052967.2:c.253G>T, NM_052967.1:c.253G>T, NP_443199.1:p.Val85Phe

Select item 146201611520.

rs1462016115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:29487924 (GRCh38)
6:29455701 (GRCh37)
Canonical SPDI:: NC_000006.12:29487923:G:A
Gene:: MAS1L (Varview), LOC105375008 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.29487924G>A, NC_000006.11:g.29455701G>A, NT_113891.3:g.974376G>A, NT_113891.2:g.974482G>A, NT_167248.2:g.753390G>A, NT_167248.1:g.758986G>A, NT_167245.2:g.753447G>A, NT_167245.1:g.759032G>A, NT_167249.2:g.796935G>A, NT_167249.1:g.796233G>A, NT_167246.2:g.753049G>A, NT_167246.1:g.758669G>A, NT_167247.2:g.753298G>A, NT_167247.1:g.758883G>A, NT_167244.2:g.753585G>A, NT_167244.1:g.759179G>A, NM_052967.2:c.-22C>T

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