SNP Links for Gene (Select 727857) - SNP

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Select item 14900217301.

rs1490021730 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1268582 (GRCh38)
17:1171876 (GRCh37)
Canonical SPDI:: NC_000017.11:1268581:G:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.1268582G>C, NC_000017.10:g.1171876G>C, NG_042055.1:g.3019G>C

Select item 14895643622.

rs1489564362 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1270825 (GRCh38)
17:1174119 (GRCh37)
Canonical SPDI:: NC_000017.11:1270824:C:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000012/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.1270825C>T, NC_000017.10:g.1174119C>T, NG_042055.1:g.5262C>T, NM_001164405.2:c.262C>T, NM_001164405.1:c.262C>T

Select item 14895106223.

rs1489510622 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1270084 (GRCh38)
17:1173378 (GRCh37)
Canonical SPDI:: NC_000017.11:1270083:G:A
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.1270084G>A, NC_000017.10:g.1173378G>A, NG_042055.1:g.4521G>A

Select item 14879261554.

rs1487926155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1268603 (GRCh38)
17:1171897 (GRCh37)
Canonical SPDI:: NC_000017.11:1268602:G:A
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1268603G>A, NC_000017.10:g.1171897G>A, NG_042055.1:g.3040G>A

Select item 14876854655.

rs1487685465 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1269264 (GRCh38)
17:1172558 (GRCh37)
Canonical SPDI:: NC_000017.11:1269263:G:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1269264G>C, NC_000017.10:g.1172558G>C, NG_042055.1:g.3701G>C

Select item 14849037766.

rs1484903776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:1270703 (GRCh38)
17:1173997 (GRCh37)
Canonical SPDI:: NC_000017.11:1270702:G:A,NC_000017.11:1270702:G:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000602/10 (TOMMO)
HGVS:: NC_000017.11:g.1270703G>A, NC_000017.11:g.1270703G>T, NC_000017.10:g.1173997G>A, NC_000017.10:g.1173997G>T, NG_042055.1:g.5140G>A, NG_042055.1:g.5140G>T, NM_001164405.2:c.140G>A, NM_001164405.2:c.140G>T, NM_001164405.1:c.140G>A, NM_001164405.1:c.140G>T, NP_001157877.1:p.Gly47Asp, NP_001157877.1:p.Gly47Val

Select item 14840265517.

rs1484026551 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:1269718 (GRCh38)
17:1173012 (GRCh37)
Canonical SPDI:: NC_000017.11:1269717:G:A
Gene:: BHLHA9 (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_000017.11:g.1269718G>A, NC_000017.10:g.1173012G>A, NG_042055.1:g.4155G>A

Select item 14839759488.

rs1483975948 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:1269625 (GRCh38)
17:1172919 (GRCh37)
Canonical SPDI:: NC_000017.11:1269624:C:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.1269625C>T, NC_000017.10:g.1172919C>T, NG_042055.1:g.4062C>T

Select item 14830561979.

rs1483056197 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:1269233 (GRCh38)
17:1172527 (GRCh37)
Canonical SPDI:: NC_000017.11:1269232:T:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.1269233T>C, NC_000017.10:g.1172527T>C, NG_042055.1:g.3670T>C

Select item 148224572910.

rs1482245729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:1270529 (GRCh38)
17:1173823 (GRCh37)
Canonical SPDI:: NC_000017.11:1270528:G:A,NC_000017.11:1270528:G:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0./0 (GnomAD)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1270529G>A, NC_000017.11:g.1270529G>T, NC_000017.10:g.1173823G>A, NC_000017.10:g.1173823G>T, NG_042055.1:g.4966G>A, NG_042055.1:g.4966G>T, NM_001164405.2:c.-35G>A, NM_001164405.2:c.-35G>T

Select item 148213456711.

rs1482134567 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 17:1268871 (GRCh38)
17:1172166 (GRCh37)
Canonical SPDI:: NC_000017.11:1268871:TTTT:TTTTT
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.1268875dup, NC_000017.10:g.1172169dup, NG_042055.1:g.3312dup

Select item 148096374012.

rs1480963740 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATT>- [Show Flanks]
Chromosome:: 17:1269145 (GRCh38)
17:1172439 (GRCh37)
Canonical SPDI:: NC_000017.11:1269139:TTATTATT:TTATT
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TTATT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1269142ATT[1], NC_000017.10:g.1172436ATT[1], NG_042055.1:g.3579ATT[1]

Select item 148044630013.

rs1480446300 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:1268932 (GRCh38)
17:1172226 (GRCh37)
Canonical SPDI:: NC_000017.11:1268931:G:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1268932G>C, NC_000017.10:g.1172226G>C, NG_042055.1:g.3369G>C

Select item 147903694614.

rs1479036946 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:1269159 (GRCh38)
17:1172453 (GRCh37)
Canonical SPDI:: NC_000017.11:1269158:A:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,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_000017.11:g.1269159A>T, NC_000017.10:g.1172453A>T, NG_042055.1:g.3596A>T

Select item 147856158815.

rs1478561588 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:1269930 (GRCh38)
17:1173224 (GRCh37)
Canonical SPDI:: NC_000017.11:1269929:T:A,NC_000017.11:1269929:T:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1269930T>A, NC_000017.11:g.1269930T>C, NC_000017.10:g.1173224T>A, NC_000017.10:g.1173224T>C, NG_042055.1:g.4367T>A, NG_042055.1:g.4367T>C

Select item 147853870716.

rs1478538707 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:1271758 (GRCh38)
17:1175052 (GRCh37)
Canonical SPDI:: NC_000017.11:1271757:A:C
Gene:: BHLHA9 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1271758A>C, NC_000017.10:g.1175052A>C, NG_042055.1:g.6195A>C, NM_001164405.2:c.*487A>C

Select item 147837724317.

rs1478377243 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 17:1271035 (GRCh38)
17:1174329 (GRCh37)
Canonical SPDI:: NC_000017.11:1271034:CCC:CC
Gene:: BHLHA9 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.1271037del, NC_000017.10:g.1174331del, NG_042055.1:g.5474del, NM_001164405.2:c.474del, NM_001164405.1:c.474del, NP_001157877.1:p.Ser159fs

Select item 147824824618.

rs1478248246 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:1268905 (GRCh38)
17:1172199 (GRCh37)
Canonical SPDI:: NC_000017.11:1268904:A:G
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000017.11:g.1268905A>G, NC_000017.10:g.1172199A>G, NG_042055.1:g.3342A>G

Select item 147759019619.

rs1477590196 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:1268942 (GRCh38)
17:1172236 (GRCh37)
Canonical SPDI:: NC_000017.11:1268941:C:G,NC_000017.11:1268941:C:T
Gene:: BHLHA9 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.1268942C>G, NC_000017.11:g.1268942C>T, NC_000017.10:g.1172236C>G, NC_000017.10:g.1172236C>T, NG_042055.1:g.3379C>G, NG_042055.1:g.3379C>T

Select item 147704861720.

rs1477048617 has merged into rs200952706 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 17:1268689 (GRCh38)
17:1171983 (GRCh37)
Canonical SPDI:: NC_000017.11:1268679:TTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:1268679:TTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:1268679:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:1268679:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:1268679:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: BHLHA9 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.264256/69946 (TOPMED)
-=0.269569/1350 (1000Genomes)
HGVS:: NC_000017.11:g.1268689_1268691del, NC_000017.11:g.1268690_1268691del, NC_000017.11:g.1268691del, NC_000017.11:g.1268691dup, NC_000017.11:g.1268690_1268691dup, NC_000017.10:g.1171983_1171985del, NC_000017.10:g.1171984_1171985del, NC_000017.10:g.1171985del, NC_000017.10:g.1171985dup, NC_000017.10:g.1171984_1171985dup, NG_042055.1:g.3126_3128del, NG_042055.1:g.3127_3128del, NG_042055.1:g.3128del, NG_042055.1:g.3128dup, NG_042055.1:g.3127_3128dup

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