SNP Links for Gene (Select 23218) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14911823311.

rs1491182331 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 3:46994006 (GRCh38)
3:47035496 (GRCh37)
Canonical SPDI:: NC_000003.12:46994004:CTC:C
Gene:: NBEAL2 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000011/1 (ExAC)
HGVS:: NC_000003.12:g.46994006_46994007del, NC_000003.11:g.47035496_47035497del, NG_031914.1:g.19324_19325del, NM_015175.3:c.1183_1184del, NM_015175.2:c.1183_1184del, NM_001365116.2:c.1081_1082del, NM_001365116.1:c.1081_1082del, XM_006713072.4:c.1102_1103del, XM_006713072.3:c.1102_1103del, XM_006713072.2:c.1102_1103del, XM_006713072.1:c.1102_1103del, XM_011533533.3:c.1183_1184del, XM_011533533.2:c.1183_1184del, XM_011533533.1:c.1183_1184del, XM_047447788.1:c.643_644del, XM_047447785.1:c.1162_1163del, XM_047447789.1:c.448_449del, XM_047447786.1:c.814_815del, XM_047447787.1:c.733_734del, XM_047447791.1:c.91_92del, XM_047447790.1:c.1183_1184del, XM_047447792.1:c.1183_1184del, XM_047447793.1:c.814_815del, NP_055990.1:p.Ser395fs, NP_001352045.1:p.Ser361fs, XP_006713135.1:p.Ser368fs, XP_011531835.1:p.Ser395fs, XP_047303744.1:p.Ser215fs, XP_047303741.1:p.Ser388fs, XP_047303745.1:p.Ser150fs, XP_047303742.1:p.Ser272fs, XP_047303743.1:p.Ser245fs, XP_047303747.1:p.Ser31fs, XP_047303746.1:p.Ser395fs, XP_047303748.1:p.Ser395fs, XP_047303749.1:p.Ser272fs

Select item 14909711612.

rs1490971161 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47006327 (GRCh38)
3:47047817 (GRCh37)
Canonical SPDI:: NC_000003.12:47006326:C:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000003.12:g.47006327C>T, NC_000003.11:g.47047817C>T, NG_031914.1:g.31645C>T

Select item 14907283513.

rs1490728351 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:46998270 (GRCh38)
3:47039760 (GRCh37)
Canonical SPDI:: NC_000003.12:46998269:G:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46998270G>T, NC_000003.11:g.47039760G>T, NG_031914.1:g.23588G>T

Select item 14907146144.

rs1490714614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:47005564 (GRCh38)
3:47047054 (GRCh37)
Canonical SPDI:: NC_000003.12:47005563:G:C
Gene:: NBEAL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.47005564G>C, NC_000003.11:g.47047054G>C, NG_031914.1:g.30882G>C, NM_015175.3:c.6636G>C, NM_015175.2:c.6636G>C, NM_001365116.2:c.6534G>C, NM_001365116.1:c.6534G>C, XM_006713072.4:c.6555G>C, XM_006713072.3:c.6555G>C, XM_006713072.2:c.6555G>C, XM_006713072.1:c.6555G>C, XM_011533533.3:c.6636G>C, XM_011533533.2:c.6636G>C, XM_011533533.1:c.6636G>C, XM_047447788.1:c.6096G>C, XM_047447785.1:c.6615G>C, XM_047447789.1:c.5901G>C, XM_047447786.1:c.6267G>C, XM_047447787.1:c.6186G>C, XM_047447791.1:c.5544G>C, XM_047447790.1:c.6636G>C, XM_047447794.1:c.3108G>C

Select item 14906902105.

rs1490690210 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGGGAAG>- [Show Flanks]
Chromosome:: 3:46982516 (GRCh38)
3:47024006 (GRCh37)
Canonical SPDI:: NC_000003.12:46982507:GAGGGAAGAGGGAAG:GAGGGAAG
Gene:: NBEAL2 (Varview), CCDC12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGGGAAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.46982509AGGGAAG[1], NC_000003.11:g.47023999AGGGAAG[1], NG_031914.1:g.7827AGGGAAG[1]

Select item 14906233486.

rs1490623348 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:46998918 (GRCh38)
3:47040408 (GRCh37)
Canonical SPDI:: NC_000003.12:46998917:G:C
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46998918G>C, NC_000003.11:g.47040408G>C, NG_031914.1:g.24236G>C

Select item 14905981427.

rs1490598142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46999624 (GRCh38)
3:47041114 (GRCh37)
Canonical SPDI:: NC_000003.12:46999623:C:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000003.12:g.46999624C>T, NC_000003.11:g.47041114C>T, NG_031914.1:g.24942C>T

Select item 14904452628.

rs1490445262 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:47005056 (GRCh38)
3:47046546 (GRCh37)
Canonical SPDI:: NC_000003.12:47005055:G:A
Gene:: NBEAL2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.47005056G>A, NC_000003.11:g.47046546G>A, NG_031914.1:g.30374G>A, NM_015175.3:c.6379G>A, NM_015175.2:c.6379G>A, NM_001365116.2:c.6277G>A, NM_001365116.1:c.6277G>A, XM_006713072.4:c.6298G>A, XM_006713072.3:c.6298G>A, XM_006713072.2:c.6298G>A, XM_006713072.1:c.6298G>A, XM_011533533.3:c.6379G>A, XM_011533533.2:c.6379G>A, XM_011533533.1:c.6379G>A, XM_047447788.1:c.5839G>A, XM_047447785.1:c.6358G>A, XM_047447789.1:c.5644G>A, XM_047447786.1:c.6010G>A, XM_047447787.1:c.5929G>A, XM_047447791.1:c.5287G>A, XM_047447790.1:c.6379G>A, XM_047447794.1:c.2851G>A, NP_055990.1:p.Gly2127Ser, NP_001352045.1:p.Gly2093Ser, XP_006713135.1:p.Gly2100Ser, XP_011531835.1:p.Gly2127Ser, XP_047303744.1:p.Gly1947Ser, XP_047303741.1:p.Gly2120Ser, XP_047303745.1:p.Gly1882Ser, XP_047303742.1:p.Gly2004Ser, XP_047303743.1:p.Gly1977Ser, XP_047303747.1:p.Gly1763Ser, XP_047303746.1:p.Gly2127Ser, XP_047303750.1:p.Gly951Ser

Select item 14902318589.

rs1490231858 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:46992740 (GRCh38)
3:47034231 (GRCh37)
Canonical SPDI:: NC_000003.12:46992740::A
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.46992740_46992741insA, NC_000003.11:g.47034230_47034231insA, NG_031914.1:g.18058_18059insA

Select item 149020185610.

rs1490201856 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:46983134 (GRCh38)
3:47024624 (GRCh37)
Canonical SPDI:: NC_000003.12:46983133:T:G
Gene:: NBEAL2 (Varview), CCDC12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.46983134T>G, NC_000003.11:g.47024624T>G, NG_031914.1:g.8452T>G

Select item 148978249811.

rs1489782498 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 3:46987501 (GRCh38)
3:47028991 (GRCh37)
Canonical SPDI:: NC_000003.12:46987500:G:A,NC_000003.12:46987500:G:C
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000003.12:g.46987501G>A, NC_000003.12:g.46987501G>C, NC_000003.11:g.47028991G>A, NC_000003.11:g.47028991G>C, NG_031914.1:g.12819G>A, NG_031914.1:g.12819G>C

Select item 148972868812.

rs1489728688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46995214 (GRCh38)
3:47036704 (GRCh37)
Canonical SPDI:: NC_000003.12:46995213:C:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.46995214C>T, NC_000003.11:g.47036704C>T, NG_031914.1:g.20532C>T, NM_015175.3:c.1479C>T, NM_015175.2:c.1479C>T, NM_001365116.2:c.1377C>T, NM_001365116.1:c.1377C>T, XM_006713072.4:c.1398C>T, XM_006713072.3:c.1398C>T, XM_006713072.2:c.1398C>T, XM_006713072.1:c.1398C>T, XM_011533533.3:c.1479C>T, XM_011533533.2:c.1479C>T, XM_011533533.1:c.1479C>T, XM_047447788.1:c.939C>T, XM_047447785.1:c.1458C>T, XM_047447789.1:c.744C>T, XM_047447786.1:c.1110C>T, XM_047447787.1:c.1029C>T, XM_047447791.1:c.387C>T, XM_047447790.1:c.1479C>T, XM_047447792.1:c.1479C>T, XM_047447793.1:c.1110C>T

Select item 148966447013.

rs1489664470 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:47004600 (GRCh38)
3:47046090 (GRCh37)
Canonical SPDI:: NC_000003.12:47004599:C:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.47004600C>T, NC_000003.11:g.47046090C>T, NG_031914.1:g.29918C>T

Select item 148961926614.

rs1489619266 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:46983596 (GRCh38)
3:47025086 (GRCh37)
Canonical SPDI:: NC_000003.12:46983595:C:T
Gene:: NBEAL2 (Varview), CCDC12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_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_000003.12:g.46983596C>T, NC_000003.11:g.47025086C>T, NG_031914.1:g.8914C>T

Select item 148956562115.

rs1489565621 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46995713 (GRCh38)
3:47037203 (GRCh37)
Canonical SPDI:: NC_000003.12:46995712:G:A
Gene:: NBEAL2 (Varview)
Functional Consequence:: splice_acceptor_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.46995713G>A, NC_000003.11:g.47037203G>A, NG_031914.1:g.21031G>A

Select item 148955167016.

rs1489551670 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:46980062 (GRCh38)
3:47021552 (GRCh37)
Canonical SPDI:: NC_000003.12:46980061:A:G
Gene:: NBEAL2 (Varview), CCDC12 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000026/7 (TOPMED)
HGVS:: NC_000003.12:g.46980062A>G, NC_000003.11:g.47021552A>G, NG_031914.1:g.5380A>G

Select item 148950039417.

rs1489500394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:46998684 (GRCh38)
3:47040174 (GRCh37)
Canonical SPDI:: NC_000003.12:46998683:G:T
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
HGVS:: NC_000003.12:g.46998684G>T, NC_000003.11:g.47040174G>T, NG_031914.1:g.24002G>T

Select item 148947971318.

rs1489479713 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:46979190 (GRCh38)
3:47020680 (GRCh37)
Canonical SPDI:: NC_000003.12:46979189:GG:G
Gene:: NBEAL2 (Varview), CCDC12 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.46979191del, NC_000003.11:g.47020681del, NG_031914.1:g.4509del

Select item 148933303019.

rs1489333030 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 3:46994417 (GRCh38)
3:47035907 (GRCh37)
Canonical SPDI:: NC_000003.12:46994416:T:A
Gene:: NBEAL2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000042/7 (GnomAD_exomes)
A=0.000143/20 (GnomAD)
A=0.000185/49 (TOPMED)
HGVS:: NC_000003.12:g.46994417T>A, NC_000003.11:g.47035907T>A, NG_031914.1:g.19735T>A

Select item 148931433120.

rs1489314331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:46998518 (GRCh38)
3:47040008 (GRCh37)
Canonical SPDI:: NC_000003.12:46998517:G:A
Gene:: NBEAL2 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.000008/2 (GnomAD_exomes)
A=0.000035/1 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000003.12:g.46998518G>A, NC_000003.11:g.47040008G>A, NG_031914.1:g.23836G>A, NM_015175.3:c.3174G>A, NM_015175.2:c.3174G>A, NM_001365116.2:c.3072G>A, NM_001365116.1:c.3072G>A, XM_006713072.4:c.3093G>A, XM_006713072.3:c.3093G>A, XM_006713072.2:c.3093G>A, XM_006713072.1:c.3093G>A, XM_011533533.3:c.3174G>A, XM_011533533.2:c.3174G>A, XM_011533533.1:c.3174G>A, XM_047447788.1:c.2634G>A, XM_047447785.1:c.3153G>A, XM_047447789.1:c.2439G>A, XM_047447786.1:c.2805G>A, XM_047447787.1:c.2724G>A, XM_047447791.1:c.2082G>A, XM_047447790.1:c.3174G>A, XM_047447792.1:c.3174G>A, XM_047447793.1:c.2805G>A

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity