SNP Links for Protein (Select 475507357) - SNP

Links from Protein

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Select item 14896403161.

rs1489640316 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:120441330 (GRCh38)
1:144619935 (GRCh37)
Canonical SPDI:: NC_000001.11:120441329:T:A,NC_000001.11:120441329:T:C
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.120441330T>A, NC_000001.11:g.120441330T>C, NW_003871056.3:g.512904T>A, NW_003871056.3:g.512904T>C, NW_025791753.1:g.58661T>A, NW_025791753.1:g.58661T>C, NC_000001.10:g.144619935T>A, NC_000001.10:g.144619935T>C, NW_003871055.3:g.5892780A>T, NW_003871055.3:g.5892780A>G, NM_001037501.5:c.619T>A, NM_001037501.5:c.619T>C, NM_001037501.4:c.619T>A, NM_001037501.4:c.619T>C, NM_001037501.3:c.619T>A, NM_001037501.3:c.619T>C, NM_001037501.2:c.619T>A, NM_001037501.2:c.619T>C, NR_102404.3:n.1859T>A, NR_102404.3:n.1859T>C, NR_102404.2:n.1859T>A, NR_102404.2:n.1859T>C, NR_102404.1:n.791T>A, NR_102404.1:n.791T>C, XM_047429836.1:c.1039T>A, XM_047429836.1:c.1039T>C, XM_047429843.1:c.1039T>A, XM_047429843.1:c.1039T>C, NP_001032590.2:p.Cys207Ser, NP_001032590.2:p.Cys207Arg, XP_047285792.1:p.Cys347Ser, XP_047285792.1:p.Cys347Arg, XP_047285799.1:p.Cys347Ser, XP_047285799.1:p.Cys347Arg

Select item 14888543542.

rs1488854354 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:120451187 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120451186:A:G
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.120451187A>G, NW_003871056.3:g.522761A>G, NW_025791753.1:g.62168A>G, NM_001037501.5:c.996A>G, NM_001037501.4:c.996A>G, NM_001037501.3:c.996A>G, NM_001037501.2:c.996A>G, NR_102404.3:n.2236A>G, NR_102404.2:n.2236A>G, NR_102404.1:n.1168A>G, NR_102405.3:n.1976A>G, NR_102405.2:n.1976A>G, NR_102405.1:n.1065A>G, XM_047429836.1:c.2229A>G, XM_047429843.1:c.2229A>G

Select item 14883304143.

rs1488330414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:120459501 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120459500:A:G
Gene:: NBPF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.120459501A>G, NW_003871056.3:g.531075A>G, NW_025791753.1:g.70495A>G, NM_001037501.5:c.1772A>G, NM_001037501.4:c.1772A>G, NM_001037501.3:c.1772A>G, NM_001037501.2:c.1772A>G, XM_047429836.1:c.3005A>G, NP_001032590.2:p.Gln591Arg, XP_047285792.1:p.Gln1002Arg

Select item 14880242384.

rs1488024238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:120462862 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120462861:C:A,NC_000001.11:120462861:C:T
Gene:: NBPF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,stop_gained,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (GnomAD)
HGVS:: NC_000001.11:g.120462862C>A, NC_000001.11:g.120462862C>T, NW_003871056.3:g.534436C>A, NW_003871056.3:g.534436C>T, NW_025791753.1:g.73858C>A, NW_025791753.1:g.73858C>T, NM_001037501.5:c.2147C>A, NM_001037501.5:c.2147C>T, NM_001037501.4:c.2147C>A, NM_001037501.4:c.2147C>T, NM_001037501.3:c.2147C>A, NM_001037501.3:c.2147C>T, NM_001037501.2:c.2147C>A, NM_001037501.2:c.2147C>T, NR_102405.3:n.2963C>A, NR_102405.3:n.2963C>T, NR_102405.2:n.2963C>A, NR_102405.2:n.2963C>T, NR_102405.1:n.2052C>A, NR_102405.1:n.2052C>T, NR_102404.3:n.3223C>A, NR_102404.3:n.3223C>T, NR_102404.2:n.3223C>A, NR_102404.2:n.3223C>T, NR_102404.1:n.2155C>A, NR_102404.1:n.2155C>T, XM_047429836.1:c.3380C>A, XM_047429836.1:c.3380C>T, NP_001032590.2:p.Ser716Ter, NP_001032590.2:p.Ser716Leu, XP_047285792.1:p.Ser1127Ter, XP_047285792.1:p.Ser1127Leu

Select item 14867324285.

rs1486732428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:120466000 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120465999:G:A,NC_000001.11:120465999:G:T
Gene:: NBPF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.120466000G>A, NC_000001.11:g.120466000G>T, NW_003871056.3:g.537574G>A, NW_003871056.3:g.537574G>T, NW_025791753.1:g.76986G>A, NW_025791753.1:g.76986G>T, NM_001037501.5:c.2608G>A, NM_001037501.5:c.2608G>T, NM_001037501.4:c.2608G>A, NM_001037501.4:c.2608G>T, NM_001037501.3:c.2608G>A, NM_001037501.3:c.2608G>T, NM_001037501.2:c.2608G>A, NM_001037501.2:c.2608G>T, NR_102405.3:n.3424G>A, NR_102405.3:n.3424G>T, NR_102405.2:n.3424G>A, NR_102405.2:n.3424G>T, NR_102405.1:n.2513G>A, NR_102405.1:n.2513G>T, NR_102404.3:n.3684G>A, NR_102404.3:n.3684G>T, NR_102404.2:n.3684G>A, NR_102404.2:n.3684G>T, NR_102404.1:n.2616G>A, NR_102404.1:n.2616G>T, XM_047429836.1:c.3841G>A, XM_047429836.1:c.3841G>T, NP_001032590.2:p.Val870Met, NP_001032590.2:p.Val870Leu, XP_047285792.1:p.Val1281Met, XP_047285792.1:p.Val1281Leu

Select item 14851410316.

rs1485141031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:120464470 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120464469:C:A
Gene:: NBPF8 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.120464470C>A, NW_003871056.3:g.536044C>A, NW_025791753.1:g.75456C>A, NM_001037501.5:c.2398C>A, NM_001037501.4:c.2398C>A, NM_001037501.3:c.2398C>A, NM_001037501.2:c.2398C>A, NR_102405.3:n.3214C>A, NR_102405.2:n.3214C>A, NR_102405.1:n.2303C>A, NR_102404.3:n.3474C>A, NR_102404.2:n.3474C>A, NR_102404.1:n.2406C>A, XM_047429836.1:c.3631C>A, NP_001032590.2:p.Pro800Thr, XP_047285792.1:p.Pro1211Thr

Select item 14842240917.

rs1484224091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:120436655 (GRCh38)
1:144615261 (GRCh37)
Canonical SPDI:: NC_000001.11:120436654:A:T
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.120436655A>T, NW_003871056.3:g.508229A>T, NW_025791753.1:g.53987A>T, NC_000001.10:g.144615261A>T, NW_003871055.3:g.5897420T>A, NM_001037501.5:c.133A>T, NM_001037501.4:c.133A>T, NM_001037501.3:c.133A>T, NM_001037501.2:c.133A>T, NR_102404.3:n.1373A>T, NR_102404.2:n.1373A>T, NR_102404.1:n.305A>T, NR_102405.3:n.1113A>T, NR_102405.2:n.1113A>T, NR_102405.1:n.305A>T, XM_047429836.1:c.553A>T, XM_047429843.1:c.553A>T, NP_001032590.2:p.Thr45Ser, XP_047285792.1:p.Thr185Ser, XP_047285799.1:p.Thr185Ser

Select item 14834696188.

rs1483469618 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:120464394 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120464393:G:A
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.120464394G>A, NW_003871056.3:g.535968G>A, NW_025791753.1:g.75380G>A, NM_001037501.5:c.2322G>A, NM_001037501.4:c.2322G>A, NM_001037501.3:c.2322G>A, NM_001037501.2:c.2322G>A, NR_102405.3:n.3138G>A, NR_102405.2:n.3138G>A, NR_102405.1:n.2227G>A, NR_102404.3:n.3398G>A, NR_102404.2:n.3398G>A, NR_102404.1:n.2330G>A, XM_047429836.1:c.3555G>A

Select item 14832201079.

rs1483220107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:120464399 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120464398:T:C
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000001.11:g.120464399T>C, NW_003871056.3:g.535973T>C, NW_025791753.1:g.75385T>C, NM_001037501.5:c.2327T>C, NM_001037501.4:c.2327T>C, NM_001037501.3:c.2327T>C, NM_001037501.2:c.2327T>C, NR_102405.3:n.3143T>C, NR_102405.2:n.3143T>C, NR_102405.1:n.2232T>C, NR_102404.3:n.3403T>C, NR_102404.2:n.3403T>C, NR_102404.1:n.2335T>C, XM_047429836.1:c.3560T>C, NP_001032590.2:p.Val776Ala, XP_047285792.1:p.Val1187Ala

Select item 148316990310.

rs1483169903 has merged into rs781876562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:120449235 (GRCh38)
1:144621489 (GRCh37)
Canonical SPDI:: NC_000001.11:120449234:T:C,NC_000001.11:120449234:T:G
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
G=0.000022/3 (GnomAD)
G=0.000029/7 (GnomAD_exomes)
G=0.000044/5 (ExAC)
HGVS:: NC_000001.11:g.120449235T>C, NC_000001.11:g.120449235T>G, NW_003871056.3:g.520809T>C, NW_003871056.3:g.520809T>G, NW_025791753.1:g.60216T>C, NW_025791753.1:g.60216T>G, NC_000001.10:g.144621489T>C, NC_000001.10:g.144621489T>G, NM_001037501.5:c.821T>C, NM_001037501.5:c.821T>G, NM_001037501.4:c.821T>C, NM_001037501.4:c.821T>G, NM_001037501.3:c.821T>C, NM_001037501.3:c.821T>G, NM_001037501.2:c.821T>C, NM_001037501.2:c.821T>G, NR_102404.3:n.2061T>C, NR_102404.3:n.2061T>G, NR_102404.2:n.2061T>C, NR_102404.2:n.2061T>G, NR_102404.1:n.993T>C, NR_102404.1:n.993T>G, NR_102405.3:n.1801T>C, NR_102405.3:n.1801T>G, NR_102405.2:n.1801T>C, NR_102405.2:n.1801T>G, NR_102405.1:n.890T>C, NR_102405.1:n.890T>G, XM_047429836.1:c.2054T>C, XM_047429836.1:c.2054T>G, XM_047429843.1:c.2054T>C, XM_047429843.1:c.2054T>G, NP_001032590.2:p.Val274Ala, NP_001032590.2:p.Val274Gly, XP_047285792.1:p.Val685Ala, XP_047285792.1:p.Val685Gly, XP_047285799.1:p.Val685Ala, XP_047285799.1:p.Val685Gly

Select item 148261066811.

rs1482610668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:120441433 (GRCh38)
1:144620038 (GRCh37)
Canonical SPDI:: NC_000001.11:120441432:T:C
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.120441433T>C, NW_003871056.3:g.513007T>C, NW_025791753.1:g.58764T>C, NC_000001.10:g.144620038T>C, NW_003871055.3:g.5892677A>G, NM_001037501.5:c.722T>C, NM_001037501.4:c.722T>C, NM_001037501.3:c.722T>C, NM_001037501.2:c.722T>C, NR_102404.3:n.1962T>C, NR_102404.2:n.1962T>C, NR_102404.1:n.894T>C, XM_047429836.1:c.1142T>C, XM_047429843.1:c.1142T>C, NP_001032590.2:p.Val241Ala, XP_047285792.1:p.Val381Ala, XP_047285799.1:p.Val381Ala

Select item 148063485612.

rs1480634856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:120466102 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120466101:T:C
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.120466102T>C, NW_003871056.3:g.537676T>C, NW_025791753.1:g.77088T>C, NM_001037501.5:c.2710T>C, NM_001037501.4:c.2710T>C, NM_001037501.3:c.2710T>C, NM_001037501.2:c.2710T>C, NR_102405.3:n.3526T>C, NR_102405.2:n.3526T>C, NR_102405.1:n.2615T>C, NR_102404.3:n.3786T>C, NR_102404.2:n.3786T>C, NR_102404.1:n.2718T>C, XM_047429836.1:c.3943T>C, NP_001032590.2:p.Phe904Leu, XP_047285792.1:p.Phe1315Leu

Select item 148048492913.

rs1480484929 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:120436585 (GRCh38)
1:144615193 (GRCh37)
Canonical SPDI:: NC_000001.11:120436584:C:A,NC_000001.11:120436584:C:G,NC_000001.11:120436584:C:T
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.002192/26 (ALFA)
T=0.000546/1 (Korea1K)
T=0.001873/1 (MGP)
T=0.003557/497 (GnomAD)
T=0.003956/1047 (TOPMED)
T=0.004685/23 (1000Genomes)
T=0.043493/127 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.120436585C>A, NC_000001.11:g.120436585C>G, NC_000001.11:g.120436585C>T, NW_003871056.3:g.508159C>A, NW_003871056.3:g.508159C>G, NW_003871056.3:g.508159C>T, NW_025791753.1:g.53919C>A, NW_025791753.1:g.53919C>G, NW_025791753.1:g.53919C>T, NC_000001.10:g.144615193C>A, NC_000001.10:g.144615193C>G, NC_000001.10:g.144615193C>T, NW_003871055.3:g.5897490G>T, NW_003871055.3:g.5897490G>C, NW_003871055.3:g.5897490G>A, NM_001037501.5:c.63C>A, NM_001037501.5:c.63C>G, NM_001037501.5:c.63C>T, NM_001037501.4:c.63C>A, NM_001037501.4:c.63C>G, NM_001037501.4:c.63C>T, NM_001037501.3:c.63C>A, NM_001037501.3:c.63C>G, NM_001037501.3:c.63C>T, NM_001037501.2:c.63C>A, NM_001037501.2:c.63C>G, NM_001037501.2:c.63C>T, NR_102404.3:n.1303C>A, NR_102404.3:n.1303C>G, NR_102404.3:n.1303C>T, NR_102404.2:n.1303C>A, NR_102404.2:n.1303C>G, NR_102404.2:n.1303C>T, NR_102404.1:n.235C>A, NR_102404.1:n.235C>G, NR_102404.1:n.235C>T, NR_102405.3:n.1043C>A, NR_102405.3:n.1043C>G, NR_102405.3:n.1043C>T, NR_102405.2:n.1043C>A, NR_102405.2:n.1043C>G, NR_102405.2:n.1043C>T, NR_102405.1:n.235C>A, NR_102405.1:n.235C>G, NR_102405.1:n.235C>T, XM_047429836.1:c.483C>A, XM_047429836.1:c.483C>G, XM_047429836.1:c.483C>T, XM_047429843.1:c.483C>A, XM_047429843.1:c.483C>G, XM_047429843.1:c.483C>T, NP_001032590.2:p.Asn21Lys, NP_001032590.2:p.Asn21Lys, XP_047285792.1:p.Asn161Lys, XP_047285792.1:p.Asn161Lys, XP_047285799.1:p.Asn161Lys, XP_047285799.1:p.Asn161Lys

Select item 148047153714.

rs1480471537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:120436542 (GRCh38)
1:144615150 (GRCh37)
Canonical SPDI:: NC_000001.11:120436541:C:A,NC_000001.11:120436541:C:G
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
G=0.000009/1 (ExAC)
HGVS:: NC_000001.11:g.120436542C>A, NC_000001.11:g.120436542C>G, NW_003871056.3:g.508116C>A, NW_003871056.3:g.508116C>G, NW_025791753.1:g.53876C>A, NW_025791753.1:g.53876C>G, NC_000001.10:g.144615150C>A, NC_000001.10:g.144615150C>G, NW_003871055.3:g.5897533G>T, NW_003871055.3:g.5897533G>C, NM_001037501.5:c.20C>A, NM_001037501.5:c.20C>G, NM_001037501.4:c.20C>A, NM_001037501.4:c.20C>G, NM_001037501.3:c.20C>A, NM_001037501.3:c.20C>G, NM_001037501.2:c.20C>A, NM_001037501.2:c.20C>G, NR_102404.3:n.1260C>A, NR_102404.3:n.1260C>G, NR_102404.2:n.1260C>A, NR_102404.2:n.1260C>G, NR_102404.1:n.192C>A, NR_102404.1:n.192C>G, NR_102405.3:n.1000C>A, NR_102405.3:n.1000C>G, NR_102405.2:n.1000C>A, NR_102405.2:n.1000C>G, NR_102405.1:n.192C>A, NR_102405.1:n.192C>G, XM_047429836.1:c.440C>A, XM_047429836.1:c.440C>G, XM_047429843.1:c.440C>A, XM_047429843.1:c.440C>G, NP_001032590.2:p.Pro7His, NP_001032590.2:p.Pro7Arg, XP_047285792.1:p.Pro147His, XP_047285792.1:p.Pro147Arg, XP_047285799.1:p.Pro147His, XP_047285799.1:p.Pro147Arg

Select item 147957434515.

rs1479574345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:120461282 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120461281:G:C
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00002/2 (GnomAD)
HGVS:: NC_000001.11:g.120461282G>C, NW_003871056.3:g.532856G>C, NW_025791753.1:g.72278G>C, NM_001037501.5:c.1882G>C, NM_001037501.4:c.1882G>C, NM_001037501.3:c.1882G>C, NM_001037501.2:c.1882G>C, NR_102405.3:n.2698G>C, NR_102405.2:n.2698G>C, NR_102405.1:n.1787G>C, NR_102404.3:n.2958G>C, NR_102404.2:n.2958G>C, NR_102404.1:n.1890G>C, XM_047429836.1:c.3115G>C, NP_001032590.2:p.Gly628Arg, XP_047285792.1:p.Gly1039Arg

Select item 147911657416.

rs1479116574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 1:120436541 (GRCh38)
1:144615149 (GRCh37)
Canonical SPDI:: NC_000001.11:120436540:C:A,NC_000001.11:120436540:C:G,NC_000001.11:120436540:C:T
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
T=0.000565/1 (Korea1K)
T=0.000684/2 (KOREAN)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.120436541C>A, NC_000001.11:g.120436541C>G, NC_000001.11:g.120436541C>T, NW_003871056.3:g.508115C>A, NW_003871056.3:g.508115C>G, NW_003871056.3:g.508115C>T, NW_025791753.1:g.53875C>A, NW_025791753.1:g.53875C>G, NW_025791753.1:g.53875C>T, NC_000001.10:g.144615149C>A, NC_000001.10:g.144615149C>G, NC_000001.10:g.144615149C>T, NW_003871055.3:g.5897534G>T, NW_003871055.3:g.5897534G>C, NW_003871055.3:g.5897534G>A, NM_001037501.5:c.19C>A, NM_001037501.5:c.19C>G, NM_001037501.5:c.19C>T, NM_001037501.4:c.19C>A, NM_001037501.4:c.19C>G, NM_001037501.4:c.19C>T, NM_001037501.3:c.19C>A, NM_001037501.3:c.19C>G, NM_001037501.3:c.19C>T, NM_001037501.2:c.19C>A, NM_001037501.2:c.19C>G, NM_001037501.2:c.19C>T, NR_102404.3:n.1259C>A, NR_102404.3:n.1259C>G, NR_102404.3:n.1259C>T, NR_102404.2:n.1259C>A, NR_102404.2:n.1259C>G, NR_102404.2:n.1259C>T, NR_102404.1:n.191C>A, NR_102404.1:n.191C>G, NR_102404.1:n.191C>T, NR_102405.3:n.999C>A, NR_102405.3:n.999C>G, NR_102405.3:n.999C>T, NR_102405.2:n.999C>A, NR_102405.2:n.999C>G, NR_102405.2:n.999C>T, NR_102405.1:n.191C>A, NR_102405.1:n.191C>G, NR_102405.1:n.191C>T, XM_047429836.1:c.439C>A, XM_047429836.1:c.439C>G, XM_047429836.1:c.439C>T, XM_047429843.1:c.439C>A, XM_047429843.1:c.439C>G, XM_047429843.1:c.439C>T, NP_001032590.2:p.Pro7Thr, NP_001032590.2:p.Pro7Ala, NP_001032590.2:p.Pro7Ser, XP_047285792.1:p.Pro147Thr, XP_047285792.1:p.Pro147Ala, XP_047285792.1:p.Pro147Ser, XP_047285799.1:p.Pro147Thr, XP_047285799.1:p.Pro147Ala, XP_047285799.1:p.Pro147Ser

Select item 147809981717.

rs1478099817 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:120454058 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120454057:C:A,NC_000001.11:120454057:C:T
Gene:: NBPF8 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000001.11:g.120454058C>A, NC_000001.11:g.120454058C>T, NW_003871056.3:g.525632C>A, NW_003871056.3:g.525632C>T, NW_025791753.1:g.65040C>A, NW_025791753.1:g.65040C>T, NM_001037501.5:c.1529C>A, NM_001037501.5:c.1529C>T, NM_001037501.4:c.1529C>A, NM_001037501.4:c.1529C>T, NM_001037501.3:c.1529C>A, NM_001037501.3:c.1529C>T, NM_001037501.2:c.1529C>A, NM_001037501.2:c.1529C>T, NR_102404.3:n.2769C>A, NR_102404.3:n.2769C>T, NR_102404.2:n.2769C>A, NR_102404.2:n.2769C>T, NR_102404.1:n.1701C>A, NR_102404.1:n.1701C>T, NR_102405.3:n.2509C>A, NR_102405.3:n.2509C>T, NR_102405.2:n.2509C>A, NR_102405.2:n.2509C>T, NR_102405.1:n.1598C>A, NR_102405.1:n.1598C>T, XM_047429836.1:c.2762C>A, XM_047429836.1:c.2762C>T, NP_001032590.2:p.Ala510Asp, NP_001032590.2:p.Ala510Val, XP_047285792.1:p.Ala921Asp, XP_047285792.1:p.Ala921Val

Select item 147548076318.

rs1475480763 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:120452173 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120452172:A:C
Gene:: NBPF8 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000044/6 (GnomAD)
HGVS:: NC_000001.11:g.120452173A>C, NW_003871056.3:g.523747A>C, NW_025791753.1:g.63155A>C, NM_001037501.5:c.1148A>C, NM_001037501.4:c.1148A>C, NM_001037501.3:c.1148A>C, NM_001037501.2:c.1148A>C, NR_102404.3:n.2388A>C, NR_102404.2:n.2388A>C, NR_102404.1:n.1320A>C, NR_102405.3:n.2128A>C, NR_102405.2:n.2128A>C, NR_102405.1:n.1217A>C, XM_047429836.1:c.2381A>C, XM_047429843.1:c.2381A>C, NP_001032590.2:p.Lys383Thr, XP_047285792.1:p.Lys794Thr, XP_047285799.1:p.Lys794Thr

Select item 147305799719.

rs1473057997 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:120464447 (GRCh38)
1:-1 (GRCh37)
Canonical SPDI:: NC_000001.11:120464446:C:G,NC_000001.11:120464446:C:T
Gene:: NBPF8 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000035/1 (TOMMO)
T=0.000044/6 (GnomAD)
HGVS:: NC_000001.11:g.120464447C>G, NC_000001.11:g.120464447C>T, NW_003871056.3:g.536021C>G, NW_003871056.3:g.536021C>T, NW_025791753.1:g.75433C>G, NW_025791753.1:g.75433C>T, NM_001037501.5:c.2375C>G, NM_001037501.5:c.2375C>T, NM_001037501.4:c.2375C>G, NM_001037501.4:c.2375C>T, NM_001037501.3:c.2375C>G, NM_001037501.3:c.2375C>T, NM_001037501.2:c.2375C>G, NM_001037501.2:c.2375C>T, NR_102405.3:n.3191C>G, NR_102405.3:n.3191C>T, NR_102405.2:n.3191C>G, NR_102405.2:n.3191C>T, NR_102405.1:n.2280C>G, NR_102405.1:n.2280C>T, NR_102404.3:n.3451C>G, NR_102404.3:n.3451C>T, NR_102404.2:n.3451C>G, NR_102404.2:n.3451C>T, NR_102404.1:n.2383C>G, NR_102404.1:n.2383C>T, XM_047429836.1:c.3608C>G, XM_047429836.1:c.3608C>T, NP_001032590.2:p.Thr792Ser, NP_001032590.2:p.Thr792Ile, XP_047285792.1:p.Thr1203Ser, XP_047285792.1:p.Thr1203Ile

Select item 147097678320.

rs1470976783 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAG>- [Show Flanks]
Chromosome:: 1:120465294 (GRCh38)
1:2 (GRCh37)
Canonical SPDI:: NC_000001.11:120465290:AAGAAG:AAG
Gene:: NBPF8 (Varview)
Functional Consequence:: inframe_deletion,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: AAGAAG=0./0 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000001.11:g.120465291AAG[1], NW_003871056.3:g.536865AAG[1], NW_025791753.1:g.76277AAG[1], NM_001037501.5:c.2505AAG[1], NM_001037501.4:c.2505AAG[1], NM_001037501.3:c.2505AAG[1], NM_001037501.2:c.2505AAG[1], NR_102405.3:n.3321AAG[1], NR_102405.2:n.3321AAG[1], NR_102405.1:n.2410AAG[1], NR_102404.3:n.3581AAG[1], NR_102404.2:n.3581AAG[1], NR_102404.1:n.2513AAG[1], XM_047429836.1:c.3738AAG[1], NP_001032590.2:p.Arg837del, XP_047285792.1:p.Arg1248del

dbSNP

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