SNP Links for Nucleotide (Select 284795359) - SNP

Links from Nucleotide

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Select item 14915140681.

rs1491514068 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:81080669 (GRCh38)
16:81114274 (GRCh37)
Canonical SPDI:: NC_000016.10:81080668:AT:
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.389744/6308 (ALFA)
AT=0.060703/304 (1000Genomes)
AT=0.098976/58 (NorthernSweden)
AT=0.193063/22976 (GnomAD)
AT=0.202549/3198 (TOMMO)
HGVS:: NC_000016.10:g.81080669_81080670del, NC_000016.9:g.81114274_81114275del, NG_016427.1:g.20706_20707del, NW_025791800.1:g.128908_128909del

Select item 14912569882.

rs1491256988 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T,TT [Show Flanks]
Chromosome:: 16:81085013 (GRCh38)
16:81118619 (GRCh37)
Canonical SPDI:: NC_000016.10:81085013:T:TT,NC_000016.10:81085013:T:TTT
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
TT=0.00002/1 (GnomAD)
T=0.0005/14 (TOMMO)
HGVS:: NC_000016.10:g.81085014dup, NC_000016.10:g.81085014_81085015insTT, NC_000016.9:g.81118619dup, NC_000016.9:g.81118619_81118620insTT, NG_016427.1:g.16362dup, NG_016427.1:g.16362_16363insAA, NW_025791800.1:g.133253dup, NW_025791800.1:g.133253_133254insTT

Select item 14911547943.

rs1491154794 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>-,CTCT [Show Flanks]
Chromosome:: 16:81085015 (GRCh38)
16:81118620 (GRCh37)
Canonical SPDI:: NC_000016.10:81085012:CTCT:CT,NC_000016.10:81085012:CTCT:CTCTCT
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0.00017/2 (ALFA)
-=0.00007/6 (GnomAD)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000016.10:g.81085013CT[1], NC_000016.10:g.81085013CT[3], NC_000016.9:g.81118618CT[1], NC_000016.9:g.81118618CT[3], NG_016427.1:g.16360AG[1], NG_016427.1:g.16360AG[3], NW_025791800.1:g.133252CT[1], NW_025791800.1:g.133252CT[3]

Select item 14906838064.

rs1490683806 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:81090694 (GRCh38)
16:81124299 (GRCh37)
Canonical SPDI:: NC_000016.10:81090693:C:G
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81090694C>G, NC_000016.9:g.81124299C>G, NG_016427.1:g.10682G>C, NW_025791800.1:g.138933C>G

Select item 14905006145.

rs1490500614 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81088970 (GRCh38)
16:81122575 (GRCh37)
Canonical SPDI:: NC_000016.10:81088969:T:C
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.81088970T>C, NC_000016.9:g.81122575T>C, NG_016427.1:g.12406A>G, NW_025791800.1:g.137209T>C

Select item 14904463306.

rs1490446330 has merged into rs78295348 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:81095385 (GRCh38)
16:81128990 (GRCh37)
Canonical SPDI:: NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:81095377:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GCSH (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTT=0./0 (ALSPAC)
TTTTTTTTTTTTTT=0./0 (GENOME_DK)
TTTTTTTTTTTTTT=0./0 (TWINSUK)
TTTTTTTTTTTTTT=0.0076/38 (1000Genomes)
HGVS:: NC_000016.10:g.81095385_81095400del, NC_000016.10:g.81095386_81095400del, NC_000016.10:g.81095387_81095400del, NC_000016.10:g.81095388_81095400del, NC_000016.10:g.81095394_81095400del, NC_000016.10:g.81095395_81095400del, NC_000016.10:g.81095396_81095400del, NC_000016.10:g.81095397_81095400del, NC_000016.10:g.81095398_81095400del, NC_000016.10:g.81095399_81095400del, NC_000016.10:g.81095400del, NC_000016.10:g.81095400dup, NC_000016.10:g.81095399_81095400dup, NC_000016.10:g.81095398_81095400dup, NC_000016.10:g.81095397_81095400dup, NC_000016.10:g.81095396_81095400dup, NC_000016.10:g.81095395_81095400dup, NC_000016.10:g.81095394_81095400dup, NC_000016.10:g.81095393_81095400dup, NC_000016.10:g.81095392_81095400dup, NC_000016.10:g.81095391_81095400dup, NC_000016.10:g.81095390_81095400dup, NC_000016.10:g.81095389_81095400dup, NC_000016.10:g.81095388_81095400dup, NC_000016.10:g.81095387_81095400dup, NC_000016.10:g.81095385_81095400dup, NC_000016.10:g.81095382_81095400dup, NC_000016.10:g.81095380_81095400dup, NC_000016.10:g.81095400_81095401insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.81095400_81095401insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.81128990_81129005del, NC_000016.9:g.81128991_81129005del, NC_000016.9:g.81128992_81129005del, NC_000016.9:g.81128993_81129005del, NC_000016.9:g.81128999_81129005del, NC_000016.9:g.81129000_81129005del, NC_000016.9:g.81129001_81129005del, NC_000016.9:g.81129002_81129005del, NC_000016.9:g.81129003_81129005del, NC_000016.9:g.81129004_81129005del, NC_000016.9:g.81129005del, NC_000016.9:g.81129005dup, NC_000016.9:g.81129004_81129005dup, NC_000016.9:g.81129003_81129005dup, NC_000016.9:g.81129002_81129005dup, NC_000016.9:g.81129001_81129005dup, NC_000016.9:g.81129000_81129005dup, NC_000016.9:g.81128999_81129005dup, NC_000016.9:g.81128998_81129005dup, NC_000016.9:g.81128997_81129005dup, NC_000016.9:g.81128996_81129005dup, NC_000016.9:g.81128995_81129005dup, NC_000016.9:g.81128994_81129005dup, NC_000016.9:g.81128993_81129005dup, NC_000016.9:g.81128992_81129005dup, NC_000016.9:g.81128990_81129005dup, NC_000016.9:g.81128987_81129005dup, NC_000016.9:g.81128985_81129005dup, NC_000016.9:g.81129005_81129006insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.81129005_81129006insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_016427.1:g.5983_5998del, NG_016427.1:g.5984_5998del, NG_016427.1:g.5985_5998del, NG_016427.1:g.5986_5998del, NG_016427.1:g.5992_5998del, NG_016427.1:g.5993_5998del, NG_016427.1:g.5994_5998del, NG_016427.1:g.5995_5998del, NG_016427.1:g.5996_5998del, NG_016427.1:g.5997_5998del, NG_016427.1:g.5998del, NG_016427.1:g.5998dup, NG_016427.1:g.5997_5998dup, NG_016427.1:g.5996_5998dup, NG_016427.1:g.5995_5998dup, NG_016427.1:g.5994_5998dup, NG_016427.1:g.5993_5998dup, NG_016427.1:g.5992_5998dup, NG_016427.1:g.5991_5998dup, NG_016427.1:g.5990_5998dup, NG_016427.1:g.5989_5998dup, NG_016427.1:g.5988_5998dup, NG_016427.1:g.5987_5998dup, NG_016427.1:g.5986_5998dup, NG_016427.1:g.5985_5998dup, NG_016427.1:g.5983_5998dup, NG_016427.1:g.5980_5998dup, NG_016427.1:g.5978_5998dup, NG_016427.1:g.5998_5999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_016427.1:g.5998_5999insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_025791800.1:g.143624_143639del, NW_025791800.1:g.143625_143639del, NW_025791800.1:g.143626_143639del, NW_025791800.1:g.143627_143639del, NW_025791800.1:g.143633_143639del, NW_025791800.1:g.143634_143639del, NW_025791800.1:g.143635_143639del, NW_025791800.1:g.143636_143639del, NW_025791800.1:g.143637_143639del, NW_025791800.1:g.143638_143639del, NW_025791800.1:g.143639del, NW_025791800.1:g.143639dup, NW_025791800.1:g.143638_143639dup, NW_025791800.1:g.143637_143639dup, NW_025791800.1:g.143636_143639dup, NW_025791800.1:g.143635_143639dup, NW_025791800.1:g.143634_143639dup, NW_025791800.1:g.143633_143639dup, NW_025791800.1:g.143632_143639dup, NW_025791800.1:g.143631_143639dup, NW_025791800.1:g.143630_143639dup, NW_025791800.1:g.143629_143639dup, NW_025791800.1:g.143628_143639dup, NW_025791800.1:g.143627_143639dup, NW_025791800.1:g.143626_143639dup, NW_025791800.1:g.143624_143639dup, NW_025791800.1:g.143621_143639dup, NW_025791800.1:g.143619_143639dup, NW_025791800.1:g.143639_143640insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_025791800.1:g.143639_143640insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14904199977.

rs1490419997 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:81084293 (GRCh38)
16:81117898 (GRCh37)
Canonical SPDI:: NC_000016.10:81084291:ATA:A
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00031/2 (1000Genomes)
HGVS:: NC_000016.10:g.81084293_81084294del, NC_000016.9:g.81117898_81117899del, NG_016427.1:g.17083_17084del, NW_025791800.1:g.132532_132533del

Select item 14903912448.

rs1490391244 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:81101183 (GRCh38)
16:81134788 (GRCh37)
Canonical SPDI:: NC_000016.10:81101182:C:T
Gene:: PKD1L2 (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81101183C>T, NC_000016.9:g.81134788C>T, NG_033236.2:g.124234G>A, NG_033236.1:g.124189G>A, NM_052892.5:c.7332G>A, NM_052892.4:c.7320G>A, NM_052892.3:c.7320G>A, NR_126532.3:n.7334G>A, NR_126532.2:n.7343G>A, NR_126532.1:n.7319G>A, NM_001278425.3:c.5286G>A, NM_001278425.2:c.5265G>A, NM_001278425.1:c.5265G>A, NG_016427.1:g.193G>A, NW_025791800.1:g.149422C>T, NM_182740.1:c.*1661G>A

Select item 14903824389.

rs1490382438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81083338 (GRCh38)
16:81116943 (GRCh37)
Canonical SPDI:: NC_000016.10:81083337:T:C
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81083338T>C, NC_000016.9:g.81116943T>C, NG_016427.1:g.18038A>G, NW_025791800.1:g.131577T>C

Select item 149019241410.

rs1490192414 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81091144 (GRCh38)
16:81124749 (GRCh37)
Canonical SPDI:: NC_000016.10:81091143:T:C
Gene:: GCSH (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81091144T>C, NC_000016.9:g.81124749T>C, NG_016427.1:g.10232A>G, NW_025791800.1:g.139383T>C, XM_017023137.2:c.-54A>G, XM_017023137.1:c.-54A>G, XM_047433900.1:c.-54A>G

Select item 148998056211.

rs1489980562 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:81085237 (GRCh38)
16:81118842 (GRCh37)
Canonical SPDI:: NC_000016.10:81085236:A:T
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00017/2 (ALFA)
HGVS:: NC_000016.10:g.81085237A>T, NC_000016.9:g.81118842A>T, NG_016427.1:g.16139T>A, NW_025791800.1:g.133476A>T

Select item 148991311212.

rs1489913112 has merged into rs35385687 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 16:81084721 (GRCh38)
16:81118326 (GRCh37)
Canonical SPDI:: NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:81084711:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.1085/418 (ALSPAC)
T=0.3788/1897 (1000Genomes)
HGVS:: NC_000016.10:g.81084721_81084727del, NC_000016.10:g.81084723_81084727del, NC_000016.10:g.81084724_81084727del, NC_000016.10:g.81084725_81084727del, NC_000016.10:g.81084726_81084727del, NC_000016.10:g.81084727del, NC_000016.10:g.81084727dup, NC_000016.10:g.81084726_81084727dup, NC_000016.10:g.81084725_81084727dup, NC_000016.10:g.81084724_81084727dup, NC_000016.9:g.81118326_81118332del, NC_000016.9:g.81118328_81118332del, NC_000016.9:g.81118329_81118332del, NC_000016.9:g.81118330_81118332del, NC_000016.9:g.81118331_81118332del, NC_000016.9:g.81118332del, NC_000016.9:g.81118332dup, NC_000016.9:g.81118331_81118332dup, NC_000016.9:g.81118330_81118332dup, NC_000016.9:g.81118329_81118332dup, NG_016427.1:g.16658_16664del, NG_016427.1:g.16660_16664del, NG_016427.1:g.16661_16664del, NG_016427.1:g.16662_16664del, NG_016427.1:g.16663_16664del, NG_016427.1:g.16664del, NG_016427.1:g.16664dup, NG_016427.1:g.16663_16664dup, NG_016427.1:g.16662_16664dup, NG_016427.1:g.16661_16664dup, NW_025791800.1:g.132960_132966del, NW_025791800.1:g.132962_132966del, NW_025791800.1:g.132963_132966del, NW_025791800.1:g.132964_132966del, NW_025791800.1:g.132965_132966del, NW_025791800.1:g.132966del, NW_025791800.1:g.132966dup, NW_025791800.1:g.132965_132966dup, NW_025791800.1:g.132964_132966dup, NW_025791800.1:g.132963_132966dup

Select item 148990162813.

rs1489901628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 16:81091111 (GRCh38)
16:81124716 (GRCh37)
Canonical SPDI:: NC_000016.10:81091110:A:C
Gene:: GCSH (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81091111A>C, NC_000016.9:g.81124716A>C, NG_016427.1:g.10265T>G, NW_025791800.1:g.139350A>C, XM_017023137.2:c.-21T>G, XM_017023137.1:c.-21T>G, XM_047433900.1:c.-21T>G

Select item 148968856914.

rs1489688569 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:81088978 (GRCh38)
16:81122583 (GRCh37)
Canonical SPDI:: NC_000016.10:81088977:G:A
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.81088978G>A, NC_000016.9:g.81122583G>A, NG_016427.1:g.12398C>T, NW_025791800.1:g.137217G>A

Select item 148952840915.

rs1489528409 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:81097057 (GRCh38)
16:81130662 (GRCh37)
Canonical SPDI:: NC_000016.10:81097056:C:A
Gene:: GCSH (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.81097057C>A, NC_000016.9:g.81130662C>A, NG_016427.1:g.4319G>T, NW_025791800.1:g.145296C>A

Select item 148946692416.

rs1489466924 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:81087876 (GRCh38)
16:81121481 (GRCh37)
Canonical SPDI:: NC_000016.10:81087875:C:G
Gene:: GCSH (Varview)
Functional Consequence:: 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_000016.10:g.81087876C>G, NC_000016.9:g.81121481C>G, NG_016427.1:g.13500G>C, NW_025791800.1:g.136115C>G

Select item 148938179917.

rs1489381799 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:81083316 (GRCh38)
16:81116921 (GRCh37)
Canonical SPDI:: NC_000016.10:81083315:T:C
Gene:: GCSH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.81083316T>C, NC_000016.9:g.81116921T>C, NG_016427.1:g.18060A>G, NW_025791800.1:g.131555T>C

Select item 148937910718.

rs1489379107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:81099776 (GRCh38)
16:81133381 (GRCh37)
Canonical SPDI:: NC_000016.10:81099775:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.81099776C>G, NC_000016.9:g.81133381C>G, NG_033236.2:g.125641G>C, NG_033236.1:g.125596G>C, NW_025791800.1:g.148015C>G, NG_016427.1:g.1600G>C

Select item 148935942519.

rs1489359425 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 16:81080267 (GRCh38)
16:81113872 (GRCh37)
Canonical SPDI:: NC_000016.10:81080266:G:A,NC_000016.10:81080266:G:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.81080267G>A, NC_000016.10:g.81080267G>T, NC_000016.9:g.81113872G>A, NC_000016.9:g.81113872G>T, NG_016427.1:g.21109C>T, NG_016427.1:g.21109C>A, NW_025791800.1:g.128506G>A, NW_025791800.1:g.128506G>T

Select item 148925735020.

rs1489257350 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:81100191 (GRCh38)
16:81133796 (GRCh37)
Canonical SPDI:: NC_000016.10:81100190:A:T
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.81100191A>T, NC_000016.9:g.81133796A>T, NG_033236.2:g.125226T>A, NG_033236.1:g.125181T>A, NW_025791800.1:g.148430A>T, NG_016427.1:g.1185T>A

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