SNP Links for Nucleotide (Select 300068920) - SNP

Links from Nucleotide

Items: 1 to 20 of 4333

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Select item 14909696511.

rs1490969651 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:6769552 (GRCh38)
20:6750199 (GRCh37)
Canonical SPDI:: NC_000020.11:6769551:C:T
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000020.11:g.6769552C>T, NC_000020.10:g.6750199C>T, NG_023233.1:g.6455C>T

Select item 14907082742.

rs1490708274 has merged into rs766616005 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCG>-,TCGTCG [Show Flanks]
Chromosome:: 20:6770238 (GRCh38)
20:6750885 (GRCh37)
Canonical SPDI:: NC_000020.11:6770232:CGTCGTCG:CGTCG,NC_000020.11:6770232:CGTCGTCG:CGTCGTCGTCG
Gene:: BMP2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,inframe_insertion
Validated:: by frequency,by alfa,by cluster
MAF:: CGTCGTCGTCG=0./0 (ALFA)
CGT=0.000007/1 (GnomAD)
CGT=0.000008/2 (TOPMED)
-=0.000245/13 (ExAC)
HGVS:: NC_000020.11:g.6770235TCG[1], NC_000020.11:g.6770235TCG[3], NC_000020.10:g.6750882TCG[1], NC_000020.10:g.6750882TCG[3], NG_023233.1:g.7138TCG[1], NG_023233.1:g.7138TCG[3], NM_001200.4:c.109TCG[1], NM_001200.4:c.109TCG[3], NM_001200.3:c.109TCG[1], NM_001200.3:c.109TCG[3], NM_001200.2:c.109TCG[1], NM_001200.2:c.109TCG[3], NP_001191.1:p.Ser38del, NP_001191.1:p.Ser38dup

Select item 14905263623.

rs1490526362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:6777216 (GRCh38)
20:6757863 (GRCh37)
Canonical SPDI:: NC_000020.11:6777215:A:G
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.6777216A>G, NC_000020.10:g.6757863A>G, NG_023233.1:g.14119A>G

Select item 14905107394.

rs1490510739 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 20:6778856 (GRCh38)
20:6759503 (GRCh37)
Canonical SPDI:: NC_000020.11:6778855:T:G
Gene:: BMP2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000020.11:g.6778856T>G, NC_000020.10:g.6759503T>G, NG_023233.1:g.15759T>G, NM_001200.4:c.958T>G, NM_001200.3:c.958T>G, NM_001200.2:c.958T>G, NP_001191.1:p.Tyr320Asp

Select item 14904278215.

rs1490427821 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 20:6763559 (GRCh38)
20:6744206 (GRCh37)
Canonical SPDI:: NC_000020.11:6763558:C:A,NC_000020.11:6763558:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.6763559C>A, NC_000020.11:g.6763559C>T, NC_000020.10:g.6744206C>A, NC_000020.10:g.6744206C>T, NG_023233.1:g.462C>A, NG_023233.1:g.462C>T

Select item 14904078816.

rs1490407881 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:6777565 (GRCh38)
20:6758212 (GRCh37)
Canonical SPDI:: NC_000020.11:6777564:T:C
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.6777565T>C, NC_000020.10:g.6758212T>C, NG_023233.1:g.14468T>C

Select item 14901856407.

rs1490185640 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:6770495 (GRCh38)
20:6751142 (GRCh37)
Canonical SPDI:: NC_000020.11:6770494:G:A
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.6770495G>A, NC_000020.10:g.6751142G>A, NG_023233.1:g.7398G>A

Select item 14897033148.

rs1489703314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:6768657 (GRCh38)
20:6749304 (GRCh37)
Canonical SPDI:: NC_000020.11:6768656:A:G
Gene:: BMP2 (Varview), LOC105372517 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.6768657A>G, NC_000020.10:g.6749304A>G, NG_023233.1:g.5560A>G, NM_001200.4:c.-226A>G, NM_001200.3:c.-226A>G, NM_001200.2:c.-226A>G, NG_052599.1:g.4896A>G

Select item 14894404419.

rs1489440441 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:6765338 (GRCh38)
20:6745985 (GRCh37)
Canonical SPDI:: NC_000020.11:6765337:T:C
Gene:: LOC105372517 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000020.11:g.6765338T>C, NC_000020.10:g.6745985T>C, NG_023233.1:g.2241T>C, NG_052599.1:g.1577T>C

Select item 148917382110.

rs1489173821 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:6771236 (GRCh38)
20:6751883 (GRCh37)
Canonical SPDI:: NC_000020.11:6771235:A:T
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.001369/4 (KOREAN)
HGVS:: NC_000020.11:g.6771236A>T, NC_000020.10:g.6751883A>T, NG_023233.1:g.8139A>T

Select item 148915706111.

rs1489157061 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 20:6776504 (GRCh38)
20:6757151 (GRCh37)
Canonical SPDI:: NC_000020.11:6776503:T:
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.6776504del, NC_000020.10:g.6757151del, NG_023233.1:g.13407del

Select item 148883083912.

rs1488830839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 20:6775955 (GRCh38)
20:6756602 (GRCh37)
Canonical SPDI:: NC_000020.11:6775954:A:T
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
T=0.000042/11 (TOPMED)
HGVS:: NC_000020.11:g.6775955A>T, NC_000020.10:g.6756602A>T, NG_023233.1:g.12858A>T

Select item 148878855113.

rs1488788551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 20:6765643 (GRCh38)
20:6746290 (GRCh37)
Canonical SPDI:: NC_000020.11:6765642:A:C
Gene:: LOC105372517 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.6765643A>C, NC_000020.10:g.6746290A>C, NG_023233.1:g.2546A>C, NG_052599.1:g.1882A>C, XR_937228.2:n.1145T>G, XR_937228.1:n.1145T>G, XR_937229.2:n.754T>G, XR_937229.1:n.754T>G

Select item 148877454914.

rs1488774549 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:6764026 (GRCh38)
20:6744673 (GRCh37)
Canonical SPDI:: NC_000020.11:6764025:G:A
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.6764026G>A, NC_000020.10:g.6744673G>A, NG_023233.1:g.929G>A, NG_052599.1:g.265G>A

Select item 148866925115.

rs1488669251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 20:6770429 (GRCh38)
20:6751076 (GRCh37)
Canonical SPDI:: NC_000020.11:6770428:G:A
Gene:: BMP2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000020.11:g.6770429G>A, NC_000020.10:g.6751076G>A, NG_023233.1:g.7332G>A, NM_001200.4:c.303G>A, NM_001200.3:c.303G>A, NM_001200.2:c.303G>A

Select item 148858228716.

rs1488582287 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGTCCCGGAGCCGGCCCCG>- [Show Flanks]
Chromosome:: 20:6768411 (GRCh38)
20:6749058 (GRCh37)
Canonical SPDI:: NC_000020.11:6768405:CCCCGAGTCCCGGAGCCGGCCCCG:CCCCG
Gene:: BMP2 (Varview), LOC105372517 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CCCCG=0./0 (ALFA)
HGVS:: NC_000020.11:g.6768411_6768429del, NC_000020.10:g.6749058_6749076del, NG_023233.1:g.5314_5332del, NM_001200.4:c.-472_-454del, NM_001200.3:c.-472_-454del, NM_001200.2:c.-472_-454del, NG_052599.1:g.4650_4668del

Select item 148854080717.

rs1488540807 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GAAT
Chromosome:: no mapping
Canonical SPDI:

Select item 148813020018.

rs1488130200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:6767592 (GRCh38)
20:6748239 (GRCh37)
Canonical SPDI:: NC_000020.11:6767591:G:T
Gene:: BMP2 (Varview), LOC105372517 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.6767592G>T, NC_000020.10:g.6748239G>T, NG_023233.1:g.4495G>T, NG_052599.1:g.3831G>T

Select item 148807854319.

rs1488078543 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 20:6768158 (GRCh38)
20:6748805 (GRCh37)
Canonical SPDI:: NC_000020.11:6768157:C:T
Gene:: BMP2 (Varview), LOC105372517 (Varview)
Functional Consequence:: 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.6768158C>T, NC_000020.10:g.6748805C>T, NG_023233.1:g.5061C>T, NM_001200.4:c.-725C>T, NM_001200.3:c.-725C>T, NM_001200.2:c.-725C>T, NG_052599.1:g.4397C>T

Select item 148801439420.

rs1488014394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 20:6774295 (GRCh38)
20:6754942 (GRCh37)
Canonical SPDI:: NC_000020.11:6774294:G:T
Gene:: BMP2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000162/3 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000020.11:g.6774295G>T, NC_000020.10:g.6754942G>T, NG_023233.1:g.11198G>T

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