SNP Links for Gene (Select 3945) - SNP

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Items: 1 to 20 of 5894

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Select item 14915740101.

rs1491574010 has merged into rs869042233 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT [Show Flanks]
Chromosome:: 12:21640162 (GRCh38)
12:21793096 (GRCh37)
Canonical SPDI:: NC_000012.12:21640154:TTTTTTTTT:TTTTTTT,NC_000012.12:21640154:TTTTTTTTT:TTTTTTTT,NC_000012.12:21640154:TTTTTTTTT:TTTTTTTTTT
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.01993/12 (Korea1K)
HGVS:: NC_000012.12:g.21640162_21640163del, NC_000012.12:g.21640163del, NC_000012.12:g.21640163dup, NC_000012.11:g.21793096_21793097del, NC_000012.11:g.21793097del, NC_000012.11:g.21793097dup, NG_017038.1:g.22700_22701del, NG_017038.1:g.22701del, NG_017038.1:g.22701dup

Select item 14914319142.

rs1491431914 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 12:21640155 (GRCh38)
12:21793090 (GRCh37)
Canonical SPDI:: NC_000012.12:21640155:T:TAT
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
TA=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.21640156_21640157insAT, NC_000012.11:g.21793090_21793091insAT, NG_017038.1:g.22700_22701insTA

Select item 14914072403.

rs1491407240 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 12:21649472 (GRCh38)
12:21802407 (GRCh37)
Canonical SPDI:: NC_000012.12:21649472:ATATATATAT:ATATATATATAT
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
AT=0.000021/3 (GnomAD)
AT=0.000038/10 (TOPMED)
HGVS:: NC_000012.12:g.21649473AT[6], NC_000012.11:g.21802407AT[6], NG_017038.1:g.13374AT[6]

Select item 14911357394.

rs1491135739 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 12:21650151 (GRCh38)
12:21803085 (GRCh37)
Canonical SPDI:: NC_000012.12:21650150:CG:
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.043585/517 (ALFA)
CG=0.052592/881 (TOMMO)
CG=0.1/4 (GENOME_DK)
CG=0.187408/25134 (GnomAD)
HGVS:: NC_000012.12:g.21650151_21650152del, NC_000012.11:g.21803085_21803086del, NG_017038.1:g.12704_12705del

Select item 14909219725.

rs1490921972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:21643175 (GRCh38)
12:21796109 (GRCh37)
Canonical SPDI:: NC_000012.12:21643174:G:C
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.0002/1 (ALFA)
C=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.21643175G>C, NC_000012.11:g.21796109G>C, NG_017038.1:g.19681C>G

Select item 14908549486.

rs1490854948 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21649049 (GRCh38)
12:21801983 (GRCh37)
Canonical SPDI:: NC_000012.12:21649048:T:C
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.21649049T>C, NC_000012.11:g.21801983T>C, NG_017038.1:g.13807A>G

Select item 14908273957.

rs1490827395 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21658122 (GRCh38)
12:21811056 (GRCh37)
Canonical SPDI:: NC_000012.12:21658121:T:C
Gene:: LDHB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.21658122T>C, NC_000012.11:g.21811056T>C, NG_017038.1:g.4734A>G

Select item 14907591318.

rs1490759131 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 12:21642407 (GRCh38)
12:21795341 (GRCh37)
Canonical SPDI:: NC_000012.12:21642406:C:A
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21642407C>A, NC_000012.11:g.21795341C>A, NG_017038.1:g.20449G>T

Select item 14906753969.

rs1490675396 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:21656558 (GRCh38)
12:21809492 (GRCh37)
Canonical SPDI:: NC_000012.12:21656557:G:A
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000012.12:g.21656558G>A, NC_000012.11:g.21809492G>A, NG_017038.1:g.6298C>T

Select item 149053867110.

rs1490538671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:21635556 (GRCh38)
12:21788490 (GRCh37)
Canonical SPDI:: NC_000012.12:21635555:G:A,NC_000012.12:21635555:G:C
Gene:: LDHB (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21635556G>A, NC_000012.12:g.21635556G>C, NC_000012.11:g.21788490G>A, NC_000012.11:g.21788490G>C, NG_017038.1:g.27300C>T, NG_017038.1:g.27300C>G, NM_002300.8:c.991C>T, NM_002300.8:c.991C>G, NM_002300.7:c.991C>T, NM_002300.7:c.991C>G, NM_002300.6:c.991C>T, NM_002300.6:c.991C>G, NM_001174097.3:c.991C>T, NM_001174097.3:c.991C>G, NM_001174097.2:c.991C>T, NM_001174097.2:c.991C>G, NM_001174097.1:c.991C>T, NM_001174097.1:c.991C>G, NM_001315537.2:c.991C>T, NM_001315537.2:c.991C>G, NM_001315537.1:c.991C>T, NM_001315537.1:c.991C>G, NP_002291.1:p.Leu331Val, NP_001167568.1:p.Leu331Val, NP_001302466.1:p.Leu331Val

Select item 149044513511.

rs1490445135 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:21640620 (GRCh38)
12:21793554 (GRCh37)
Canonical SPDI:: NC_000012.12:21640619:T:C
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000012.12:g.21640620T>C, NC_000012.11:g.21793554T>C, NG_017038.1:g.22236A>G

Select item 149007414312.

rs1490074143 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 12:21650144 (GRCh38)
12:21803078 (GRCh37)
Canonical SPDI:: NC_000012.12:21650143:A:C
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.00008/1 (ALFA)
HGVS:: NC_000012.12:g.21650144A>C, NC_000012.11:g.21803078A>C, NG_017038.1:g.12712T>G

Select item 148995564213.

rs1489955642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 12:21641868 (GRCh38)
12:21794802 (GRCh37)
Canonical SPDI:: NC_000012.12:21641867:T:A,NC_000012.12:21641867:T:C
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
A=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.21641868T>A, NC_000012.12:g.21641868T>C, NC_000012.11:g.21794802T>A, NC_000012.11:g.21794802T>C, NG_017038.1:g.20988A>T, NG_017038.1:g.20988A>G

Select item 148989243314.

rs1489892433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:21635172 (GRCh38)
12:21788106 (GRCh37)
Canonical SPDI:: NC_000012.12:21635171:C:T
Gene:: LDHB (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21635172C>T, NC_000012.11:g.21788106C>T, NG_017038.1:g.27684G>A

Select item 148977358215.

rs1489773582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 12:21647186 (GRCh38)
12:21800120 (GRCh37)
Canonical SPDI:: NC_000012.12:21647185:A:C,NC_000012.12:21647185:A:T
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000012.12:g.21647186A>C, NC_000012.12:g.21647186A>T, NC_000012.11:g.21800120A>C, NC_000012.11:g.21800120A>T, NG_017038.1:g.15670T>G, NG_017038.1:g.15670T>A

Select item 148975929116.

rs1489759291 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:21644396 (GRCh38)
12:21797330 (GRCh37)
Canonical SPDI:: NC_000012.12:21644395:G:A
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000012.12:g.21644396G>A, NC_000012.11:g.21797330G>A, NG_017038.1:g.18460C>T

Select item 148974309617.

rs1489743096 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:21658408 (GRCh38)
12:21811342 (GRCh37)
Canonical SPDI:: NC_000012.12:21658407:G:A
Gene:: LDHB (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.21658408G>A, NC_000012.11:g.21811342G>A, NG_017038.1:g.4448C>T

Select item 148955320518.

rs1489553205 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:21644566 (GRCh38)
12:21797500 (GRCh37)
Canonical SPDI:: NC_000012.12:21644565:A:C,NC_000012.12:21644565:A:G
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.21644566A>C, NC_000012.12:g.21644566A>G, NC_000012.11:g.21797500A>C, NC_000012.11:g.21797500A>G, NG_017038.1:g.18290T>G, NG_017038.1:g.18290T>C

Select item 148940312919.

rs1489403129 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:21643259 (GRCh38)
12:21796193 (GRCh37)
Canonical SPDI:: NC_000012.12:21643258:G:A
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.21643259G>A, NC_000012.11:g.21796193G>A, NG_017038.1:g.19597C>T

Select item 148932705020.

rs1489327050 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAGGAA [Show Flanks]
Chromosome:: 12:21655116 (GRCh38)
12:21808051 (GRCh37)
Canonical SPDI:: NC_000012.12:21655116:CAAAAGGAA:CAAAAGGAACAAAAGGAA
Gene:: LDHB (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CAAAAGGAACAAAAGGAA=0./0 (ALFA)
HGVS:: NC_000012.12:g.21655117_21655125dup, NC_000012.11:g.21808051_21808059dup, NG_017038.1:g.7731_7739dup

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