SNP Links for Gene (Select 101060226) - SNP

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Select item 14915168001.

rs1491516800 has merged into rs1190866284 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:149481490 (GRCh38)
1:15 (GRCh37)
Canonical SPDI:: NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:149481473:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.149481490_149481498del, NC_000001.11:g.149481491_149481498del, NC_000001.11:g.149481492_149481498del, NC_000001.11:g.149481496_149481498del, NC_000001.11:g.149481497_149481498del, NC_000001.11:g.149481498del, NC_000001.11:g.149481498dup, NC_000001.11:g.149481497_149481498dup, NC_000001.11:g.149481496_149481498dup, NC_000001.11:g.149481495_149481498dup, NC_000001.11:g.149481494_149481498dup, NW_003871055.3:g.6296903_6296911del, NW_003871055.3:g.6296904_6296911del, NW_003871055.3:g.6296905_6296911del, NW_003871055.3:g.6296909_6296911del, NW_003871055.3:g.6296910_6296911del, NW_003871055.3:g.6296911del, NW_003871055.3:g.6296911dup, NW_003871055.3:g.6296910_6296911dup, NW_003871055.3:g.6296909_6296911dup, NW_003871055.3:g.6296908_6296911dup, NW_003871055.3:g.6296907_6296911dup

Select item 14914142762.

rs1491414276 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTGTGTG [Show Flanks]
Chromosome:: 1:149487776 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149487776:GTGTGTG:GTGTGTGGGTGTGTG
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGTGGGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.149487777_149487783GT[3]GGGTGTGTG[1], NW_003871055.3:g.6303190_6303196GT[3]GGGTGTGTG[1]

Select item 14914030173.

rs1491403017 has merged into rs1159751982 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:149490934 (GRCh38)
1:11 (GRCh37)
Canonical SPDI:: NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149490921:GTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.149490922GT[6], NC_000001.11:g.149490922GT[7], NC_000001.11:g.149490922GT[8], NC_000001.11:g.149490922GT[9], NC_000001.11:g.149490922GT[10], NC_000001.11:g.149490922GT[11], NC_000001.11:g.149490922GT[13], NC_000001.11:g.149490922GT[14], NC_000001.11:g.149490922GT[15], NC_000001.11:g.149490922GT[16], NW_003871055.3:g.6306335GT[6], NW_003871055.3:g.6306335GT[7], NW_003871055.3:g.6306335GT[8], NW_003871055.3:g.6306335GT[9], NW_003871055.3:g.6306335GT[10], NW_003871055.3:g.6306335GT[11], NW_003871055.3:g.6306335GT[13], NW_003871055.3:g.6306335GT[14], NW_003871055.3:g.6306335GT[15], NW_003871055.3:g.6306335GT[16]

Select item 14913923964.

rs1491392396 [Homo sapiens]

Variant type:: INS
Alleles:: ->TG,TTG [Show Flanks]
Chromosome:: 1:149481498 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149481498::TG,NC_000001.11:149481498::TTG
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTG=0./0 (ALFA)
TG=0.00041/11 (TOMMO)
HGVS:: NC_000001.11:g.149481498_149481499insTG, NC_000001.11:g.149481498_149481499insTTG, NW_003871055.3:g.6296911_6296912insTG, NW_003871055.3:g.6296911_6296912insTTG

Select item 14912974305.

rs1491297430 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:149481498 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149481497:TG:
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00101/12 (ALFA)
-=0.00415/112 (TOMMO)
-=0.00687/44 (1000Genomes)
HGVS:: NC_000001.11:g.149481498_149481499del, NW_003871055.3:g.6296911_6296912del

Select item 14912828206.

rs1491282820 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:149481473 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149481472:AT:
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00117/30 (TOMMO)
HGVS:: NC_000001.11:g.149481473_149481474del, NW_003871055.3:g.6296886_6296887del

Select item 14912588877.

rs1491258887 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:149509957 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149509957::AT
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AT=0.00059/7 (ALFA)
AT=0.00005/2 (GnomAD)
HGVS:: NC_000001.11:g.149509957_149509958insAT, NW_003871055.3:g.6325370_6325371insAT

Select item 14912440178.

rs1491244017 has merged into rs1219803937 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:149487789 (GRCh38)
1:12 (GRCh37)
Canonical SPDI:: NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:149487775:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000001.11:g.149487777GT[6], NC_000001.11:g.149487777GT[10], NC_000001.11:g.149487777GT[11], NC_000001.11:g.149487777GT[12], NC_000001.11:g.149487777GT[13], NC_000001.11:g.149487777GT[14], NC_000001.11:g.149487777GT[15], NC_000001.11:g.149487777GT[16], NC_000001.11:g.149487777GT[17], NC_000001.11:g.149487777GT[18], NC_000001.11:g.149487777GT[19], NC_000001.11:g.149487777GT[20], NC_000001.11:g.149487777GT[21], NC_000001.11:g.149487777GT[22], NC_000001.11:g.149487777GT[23], NC_000001.11:g.149487777GT[25], NC_000001.11:g.149487777GT[26], NC_000001.11:g.149487777GT[27], NC_000001.11:g.149487777GT[28], NC_000001.11:g.149487777GT[29], NC_000001.11:g.149487777GT[30], NC_000001.11:g.149487777GT[32], NC_000001.11:g.149487777GT[35], NW_003871055.3:g.6303190GT[6], NW_003871055.3:g.6303190GT[10], NW_003871055.3:g.6303190GT[11], NW_003871055.3:g.6303190GT[12], NW_003871055.3:g.6303190GT[13], NW_003871055.3:g.6303190GT[14], NW_003871055.3:g.6303190GT[15], NW_003871055.3:g.6303190GT[16], NW_003871055.3:g.6303190GT[17], NW_003871055.3:g.6303190GT[18], NW_003871055.3:g.6303190GT[19], NW_003871055.3:g.6303190GT[20], NW_003871055.3:g.6303190GT[21], NW_003871055.3:g.6303190GT[22], NW_003871055.3:g.6303190GT[23], NW_003871055.3:g.6303190GT[25], NW_003871055.3:g.6303190GT[26], NW_003871055.3:g.6303190GT[27], NW_003871055.3:g.6303190GT[28], NW_003871055.3:g.6303190GT[29], NW_003871055.3:g.6303190GT[30], NW_003871055.3:g.6303190GT[32], NW_003871055.3:g.6303190GT[35]

Select item 14912372739.

rs1491237273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:149490922 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149490922:T:TAT
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
TA=0.000004/1 (TOPMED)
TA=0.000009/1 (GnomAD)
HGVS:: NC_000001.11:g.149490923_149490924insAT, NW_003871055.3:g.6306336_6306337insAT

Select item 149098108710.

rs1490981087 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 1:149515058 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149515057:CC:C
Gene:: NBPF19 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000076/20 (TOPMED)
-=0.000111/11 (GnomAD)
HGVS:: NC_000001.11:g.149515059del, NW_003871055.3:g.6330472del, NM_001351365.2:c.5274del, NM_001351365.1:c.5274del, NP_001338294.1:p.Tyr1760fs

Select item 149091717611.

rs1490917176 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATTT>- [Show Flanks]
Chromosome:: 1:149556367 (GRCh38)
1:2 (GRCh37)
Canonical SPDI:: NC_000001.11:149556363:TTTATTT:TTT
Gene:: NBPF19 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.149556367_149556370del, NW_003871055.3:g.6371780_6371783del

Select item 149091213712.

rs1490912137 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:149485907 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149485906:G:C
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.149485907G>C, NW_003871055.3:g.6301320G>C

Select item 149088445813.

rs1490884458 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:149486728 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149486727:T:G
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000356/5 (ALFA)
G=0.000156/1 (1000Genomes)
G=0.000294/41 (GnomAD)
G=0.00045/119 (TOPMED)
HGVS:: NC_000001.11:g.149486728T>G, NW_003871055.3:g.6302141T>G

Select item 149084085314.

rs1490840853 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:149516020 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149516019:T:A
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.149516020T>A, NW_003871055.3:g.6331433T>A

Select item 149082780015.

rs1490827800 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:149474530 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149474529:G:A
Gene:: NBPF19 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.149474530G>A, NW_003871055.3:g.6289943G>A

Select item 149080552716.

rs1490805527 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:149528976 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149528975:T:A,NC_000001.11:149528975:T:C
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000001.11:g.149528976T>A, NC_000001.11:g.149528976T>C, NW_003871055.3:g.6344389T>A, NW_003871055.3:g.6344389T>C

Select item 149077492017.

rs1490774920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:149475481 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149475480:C:A,NC_000001.11:149475480:C:G,NC_000001.11:149475480:C:T
Gene:: NBPF19 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000023/6 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.149475481C>A, NC_000001.11:g.149475481C>G, NC_000001.11:g.149475481C>T, NW_003871055.3:g.6290894C>A, NW_003871055.3:g.6290894C>G, NW_003871055.3:g.6290894C>T, NM_001351365.2:c.-350C>A, NM_001351365.2:c.-350C>G, NM_001351365.2:c.-350C>T

Select item 149067320518.

rs1490673205 has merged into rs6672831 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 1:149480412 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149480411:T:A,NC_000001.11:149480411:T:C,NC_000001.11:149480411:T:G
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00407/527 (GnomAD)
G=0.017332/489 (TOMMO)
HGVS:: NC_000001.11:g.149480412T>A, NC_000001.11:g.149480412T>C, NC_000001.11:g.149480412T>G, NW_003871055.3:g.6295825T>A, NW_003871055.3:g.6295825T>C, NW_003871055.3:g.6295825T>G

Select item 149058962619.

rs1490589626 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:149492701 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149492700:A:G,NC_000001.11:149492700:A:T
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.149492701A>G, NC_000001.11:g.149492701A>T, NW_003871055.3:g.6308114A>G, NW_003871055.3:g.6308114A>T

Select item 149053755220.

rs1490537552 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:149490994 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:149490993:A:G
Gene:: NBPF19 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000023/6 (TOPMED)
G=0.000026/3 (GnomAD)
HGVS:: NC_000001.11:g.149490994A>G, NW_003871055.3:g.6306407A>G

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