SNP Links for Gene (Select 8843) - SNP

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Select item 14915340491.

rs1491534049 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:122716898 (GRCh38)
12:123201445 (GRCh37)
Canonical SPDI:: NC_000012.12:122716897:TA:
Gene:: HCAR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.122716898_122716899del, NC_000012.11:g.123201445_123201446del

Select item 14911840802.

rs1491184080 has merged into rs56239404 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 12:122716912 (GRCh38)
12:123201459 (GRCh37)
Canonical SPDI:: NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000012.12:122716898:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: HCAR3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.4764/2386 (1000Genomes)
HGVS:: NC_000012.12:g.122716912_122716916del, NC_000012.12:g.122716913_122716916del, NC_000012.12:g.122716914_122716916del, NC_000012.12:g.122716915_122716916del, NC_000012.12:g.122716916del, NC_000012.12:g.122716916dup, NC_000012.12:g.122716915_122716916dup, NC_000012.12:g.122716914_122716916dup, NC_000012.12:g.122716913_122716916dup, NC_000012.12:g.122716912_122716916dup, NC_000012.12:g.122716911_122716916dup, NC_000012.12:g.122716910_122716916dup, NC_000012.12:g.122716908_122716916dup, NC_000012.12:g.122716906_122716916dup, NC_000012.11:g.123201459_123201463del, NC_000012.11:g.123201460_123201463del, NC_000012.11:g.123201461_123201463del, NC_000012.11:g.123201462_123201463del, NC_000012.11:g.123201463del, NC_000012.11:g.123201463dup, NC_000012.11:g.123201462_123201463dup, NC_000012.11:g.123201461_123201463dup, NC_000012.11:g.123201460_123201463dup, NC_000012.11:g.123201459_123201463dup, NC_000012.11:g.123201458_123201463dup, NC_000012.11:g.123201457_123201463dup, NC_000012.11:g.123201455_123201463dup, NC_000012.11:g.123201453_123201463dup

Select item 14902735923.

rs1490273592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 12:122718528 (GRCh38)
12:123203076 (GRCh37)
Canonical SPDI:: NC_000012.12:122718528:T:TCT
Gene:: HCAR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
TC=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.122718529_122718530insCT, NC_000012.11:g.123203076_123203077insCT

Select item 14902689474.

rs1490268947 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122716547 (GRCh38)
12:123201094 (GRCh37)
Canonical SPDI:: NC_000012.12:122716546:A:G
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.0004/2 (ALFA)
HGVS:: NC_000012.12:g.122716547A>G, NC_000012.11:g.123201094A>G, NM_006018.3:c.191T>C, NM_006018.2:c.191T>C, NP_006009.2:p.Ile64Thr

Select item 14892444895.

rs1489244489 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:122714380 (GRCh38)
12:123198927 (GRCh37)
Canonical SPDI:: NC_000012.12:122714379:T:A,NC_000012.12:122714379:T:C
Gene:: HCAR3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.122714380T>A, NC_000012.12:g.122714380T>C, NC_000012.11:g.123198927T>A, NC_000012.11:g.123198927T>C

Select item 14884620016.

rs1488462001 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:122718381 (GRCh38)
12:123202928 (GRCh37)
Canonical SPDI:: NC_000012.12:122718380:A:G
Gene:: HCAR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000034/9 (TOPMED)
HGVS:: NC_000012.12:g.122718381A>G, NC_000012.11:g.123202928A>G

Select item 14882706417.

rs1488270641 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TTT [Show Flanks]
Chromosome:: 12:122716835 (GRCh38)
12:123201382 (GRCh37)
Canonical SPDI:: NC_000012.12:122716834:TTT:TT,NC_000012.12:122716834:TTT:TTTTT
Gene:: HCAR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
TT=0.000004/1 (TOPMED)
TT=0.000007/1 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.122716837del, NC_000012.12:g.122716836_122716837dup, NC_000012.11:g.123201384del, NC_000012.11:g.123201383_123201384dup, NM_006018.2:c.-98del, NM_006018.2:c.-99_-98dup

Select item 14880752758.

rs1488075275 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122714657 (GRCh38)
12:123199204 (GRCh37)
Canonical SPDI:: NC_000012.12:122714656:T:C
Gene:: HCAR3 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122714657T>C, NC_000012.11:g.123199204T>C

Select item 14871861549.

rs1487186154 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122716600 (GRCh38)
12:123201147 (GRCh37)
Canonical SPDI:: NC_000012.12:122716599:G:A
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.122716600G>A, NC_000012.11:g.123201147G>A, NM_006018.3:c.138C>T, NM_006018.2:c.138C>T

Select item 148692663110.

rs1486926631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:122715066 (GRCh38)
12:123199613 (GRCh37)
Canonical SPDI:: NC_000012.12:122715065:A:T
Gene:: HCAR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122715066A>T, NC_000012.11:g.123199613A>T, NM_006018.3:c.*508T>A, NM_006018.2:c.*508T>A

Select item 148608396211.

rs1486083962 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122715778 (GRCh38)
12:123200325 (GRCh37)
Canonical SPDI:: NC_000012.12:122715777:C:T
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000012.12:g.122715778C>T, NC_000012.11:g.123200325C>T, NM_006018.3:c.960G>A, NM_006018.2:c.960G>A

Select item 148580525912.

rs1485805259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122715805 (GRCh38)
12:123200352 (GRCh37)
Canonical SPDI:: NC_000012.12:122715804:G:A
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122715805G>A, NC_000012.11:g.123200352G>A, NM_006018.3:c.933C>T, NM_006018.2:c.933C>T

Select item 148483558513.

rs1484835585 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122716046 (GRCh38)
12:123200593 (GRCh37)
Canonical SPDI:: NC_000012.12:122716045:G:A
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.122716046G>A, NC_000012.11:g.123200593G>A, NM_006018.3:c.692C>T, NM_006018.2:c.692C>T, NP_006009.2:p.Thr231Ile

Select item 148444539014.

rs1484445390 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:122716087 (GRCh38)
12:123200634 (GRCh37)
Canonical SPDI:: NC_000012.12:122716086:C:T
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122716087C>T, NC_000012.11:g.123200634C>T, NM_006018.3:c.651G>A, NM_006018.2:c.651G>A

Select item 148352910915.

rs1483529109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:122717489 (GRCh38)
12:123202036 (GRCh37)
Canonical SPDI:: NC_000012.12:122717488:G:C
Gene:: HCAR3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.122717489G>C, NC_000012.11:g.123202036G>C

Select item 148332648516.

rs1483326485 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:122714960 (GRCh38)
12:123199507 (GRCh37)
Canonical SPDI:: NC_000012.12:122714959:G:A
Gene:: HCAR3 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.122714960G>A, NC_000012.11:g.123199507G>A, NM_006018.3:c.*614C>T, NM_006018.2:c.*614C>T

Select item 148258160217.

rs1482581602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:122717426 (GRCh38)
12:123201973 (GRCh37)
Canonical SPDI:: NC_000012.12:122717425:A:C
Gene:: HCAR3 (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_000012.12:g.122717426A>C, NC_000012.11:g.123201973A>C

Select item 148222463418.

rs1482224634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 12:122716743 (GRCh38)
12:123201290 (GRCh37)
Canonical SPDI:: NC_000012.12:122716742:C:A,NC_000012.12:122716742:C:G,NC_000012.12:122716742:C:T
Gene:: HCAR3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.122716743C>A, NC_000012.12:g.122716743C>G, NC_000012.12:g.122716743C>T, NC_000012.11:g.123201290C>A, NC_000012.11:g.123201290C>G, NC_000012.11:g.123201290C>T, NM_006018.3:c.-6G>T, NM_006018.3:c.-6G>C, NM_006018.3:c.-6G>A, NM_006018.2:c.-6G>T, NM_006018.2:c.-6G>C, NM_006018.2:c.-6G>A

Select item 148177401719.

rs1481774017 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:122715734 (GRCh38)
12:123200281 (GRCh37)
Canonical SPDI:: NC_000012.12:122715733:G:A,NC_000012.12:122715733:G:C
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
A=0.000106/2 (TOMMO)
HGVS:: NC_000012.12:g.122715734G>A, NC_000012.12:g.122715734G>C, NC_000012.11:g.123200281G>A, NC_000012.11:g.123200281G>C, NM_006018.3:c.1004C>T, NM_006018.3:c.1004C>G, NM_006018.2:c.1004C>T, NM_006018.2:c.1004C>G, NP_006009.2:p.Pro335Leu, NP_006009.2:p.Pro335Arg

Select item 147982133220.

rs1479821332 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:122716278 (GRCh38)
12:123200825 (GRCh37)
Canonical SPDI:: NC_000012.12:122716277:T:C
Gene:: HCAR3 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000047/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.122716278T>C, NC_000012.11:g.123200825T>C, NM_006018.3:c.460A>G, NM_006018.2:c.460A>G, NP_006009.2:p.Ile154Val

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