SNP Links for Gene (Select 8642) - SNP

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Select item 14915113591.

rs1491511359 has merged into rs36017764 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 11:6639121 (GRCh38)
11:6660352 (GRCh37)
Canonical SPDI:: NC_000011.10:6639109:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000011.10:6639109:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:6639109:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:6639109:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:6639109:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.0877/338 (ALSPAC)
-=0.4724/2366 (1000Genomes)
HGVS:: NC_000011.10:g.6639121_6639123del, NC_000011.10:g.6639122_6639123del, NC_000011.10:g.6639123del, NC_000011.10:g.6639123dup, NC_000011.10:g.6639122_6639123dup, NC_000011.9:g.6660352_6660354del, NC_000011.9:g.6660353_6660354del, NC_000011.9:g.6660354del, NC_000011.9:g.6660354dup, NC_000011.9:g.6660353_6660354dup, NG_033858.2:g.21738_21740del, NG_033858.2:g.21739_21740del, NG_033858.2:g.21740del, NG_033858.2:g.21740dup, NG_033858.2:g.21739_21740dup

Select item 14913526732.

rs1491352673 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 11:6639109 (GRCh38)
11:6660340 (GRCh37)
Canonical SPDI:: NC_000011.10:6639108:CA:
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000011.10:g.6639109_6639110del, NC_000011.9:g.6660340_6660341del, NG_033858.2:g.21740_21741del

Select item 14909787973.

rs1490978797 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 11:6650838 (GRCh38)
11:6672069 (GRCh37)
Canonical SPDI:: NC_000011.10:6650837:T:A,NC_000011.10:6650837:T:C
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6650838T>A, NC_000011.10:g.6650838T>C, NC_000011.9:g.6672069T>A, NC_000011.9:g.6672069T>C, NG_033858.2:g.10012A>T, NG_033858.2:g.10012A>G

Select item 14909533634.

rs1490953363 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6630521 (GRCh38)
11:6651752 (GRCh37)
Canonical SPDI:: NC_000011.10:6630520:G:C
Gene:: DCHS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.6630521G>C, NC_000011.9:g.6651752G>C, NG_033858.2:g.30329C>G, NM_003737.4:c.4273C>G, NM_003737.3:c.4273C>G, NM_003737.2:c.4273C>G, NP_003728.1:p.Gln1425Glu

Select item 14908063085.

rs1490806308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6622973 (GRCh38)
11:6644204 (GRCh37)
Canonical SPDI:: NC_000011.10:6622972:C:T
Gene:: DCHS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: T=0.0005/1 (Korea1K)
HGVS:: NC_000011.10:g.6622973C>T, NC_000011.9:g.6644204C>T, NG_033858.2:g.37877G>A, NM_003737.4:c.8703G>A, NM_003737.3:c.8703G>A, NM_003737.2:c.8703G>A, NG_008653.1:g.1489G>A

Select item 14905480626.

rs1490548062 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGAGATAAAGAGCA>- [Show Flanks]
Chromosome:: 11:6628439 (GRCh38)
11:6649670 (GRCh37)
Canonical SPDI:: NC_000011.10:6628436:CAGGGAGATAAAGAGCA:CA
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000071/1 (ALFA)
-=0.0001/14 (GnomAD)
-=0.00011/29 (TOPMED)
HGVS:: NC_000011.10:g.6628439_6628453del, NC_000011.9:g.6649670_6649684del, NG_033858.2:g.32399_32413del

Select item 14904834137.

rs1490483413 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTAGGGAAGATGGATAC>- [Show Flanks]
Chromosome:: 11:6650384 (GRCh38)
11:6671615 (GRCh37)
Canonical SPDI:: NC_000011.10:6650380:TACCTAGGGAAGATGGATAC:TAC
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAC=0./0 (ALFA)
-=0.000021/3 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000011.10:g.6650384_6650400del, NC_000011.9:g.6671615_6671631del, NG_033858.2:g.10453_10469del

Select item 14904430058.

rs1490443005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6622942 (GRCh38)
11:6644173 (GRCh37)
Canonical SPDI:: NC_000011.10:6622941:G:A,NC_000011.10:6622941:G:T
Gene:: DCHS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6622942G>A, NC_000011.10:g.6622942G>T, NC_000011.9:g.6644173G>A, NC_000011.9:g.6644173G>T, NG_033858.2:g.37908C>T, NG_033858.2:g.37908C>A, NM_003737.4:c.8734C>T, NM_003737.4:c.8734C>A, NM_003737.3:c.8734C>T, NM_003737.3:c.8734C>A, NM_003737.2:c.8734C>T, NM_003737.2:c.8734C>A, NG_008653.1:g.1520C>T, NG_008653.1:g.1520C>A, NP_003728.1:p.Arg2912Trp

Select item 14904273589.

rs1490427358 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6623466 (GRCh38)
11:6644697 (GRCh37)
Canonical SPDI:: NC_000011.10:6623465:G:T
Gene:: DCHS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6623466G>T, NC_000011.9:g.6644697G>T, NG_033858.2:g.37384C>A, NM_003737.4:c.8210C>A, NM_003737.3:c.8210C>A, NM_003737.2:c.8210C>A, NG_008653.1:g.996C>A, NP_003728.1:p.Ala2737Asp

Select item 149042637510.

rs1490426375 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6647800 (GRCh38)
11:6669031 (GRCh37)
Canonical SPDI:: NC_000011.10:6647799:T:C
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_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_000011.10:g.6647800T>C, NC_000011.9:g.6669031T>C, NG_033858.2:g.13050A>G

Select item 149042458611.

rs1490424586 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6633180 (GRCh38)
11:6654411 (GRCh37)
Canonical SPDI:: NC_000011.10:6633179:G:A
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.6633180G>A, NC_000011.9:g.6654411G>A, NG_033858.2:g.27670C>T

Select item 149040001612.

rs1490400016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:6634392 (GRCh38)
11:6655623 (GRCh37)
Canonical SPDI:: NC_000011.10:6634391:C:A,NC_000011.10:6634391:C:G
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6634392C>A, NC_000011.10:g.6634392C>G, NC_000011.9:g.6655623C>A, NC_000011.9:g.6655623C>G, NG_033858.2:g.26458G>T, NG_033858.2:g.26458G>C

Select item 149037800613.

rs1490378006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6624133 (GRCh38)
11:6645364 (GRCh37)
Canonical SPDI:: NC_000011.10:6624132:G:A
Gene:: DCHS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6624133G>A, NC_000011.9:g.6645364G>A, NG_033858.2:g.36717C>T, NM_003737.4:c.7543C>T, NM_003737.3:c.7543C>T, NM_003737.2:c.7543C>T, NG_008653.1:g.329C>T, NP_003728.1:p.His2515Tyr

Select item 149026393514.

rs1490263935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6623786 (GRCh38)
11:6645017 (GRCh37)
Canonical SPDI:: NC_000011.10:6623785:G:A
Gene:: DCHS1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000047/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6623786G>A, NC_000011.9:g.6645017G>A, NG_033858.2:g.37064C>T, NM_003737.4:c.7890C>T, NM_003737.3:c.7890C>T, NM_003737.2:c.7890C>T, NG_008653.1:g.676C>T

Select item 149025222415.

rs1490252224 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6644514 (GRCh38)
11:6665745 (GRCh37)
Canonical SPDI:: NC_000011.10:6644513:A:C
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000546/1 (Korea1K)
C=0.001369/4 (KOREAN)
C=0.010935/183 (TOMMO)
HGVS:: NC_000011.10:g.6644514A>C, NC_000011.9:g.6665745A>C, NG_033858.2:g.16336T>G

Select item 149018607916.

rs1490186079 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6652471 (GRCh38)
11:6673702 (GRCh37)
Canonical SPDI:: NC_000011.10:6652470:T:C
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_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_000011.10:g.6652471T>C, NC_000011.9:g.6673702T>C, NG_033858.2:g.8379A>G

Select item 149016021917.

rs1490160219 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6651352 (GRCh38)
11:6672583 (GRCh37)
Canonical SPDI:: NC_000011.10:6651351:A:C
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6651352A>C, NC_000011.9:g.6672583A>C, NG_033858.2:g.9498T>G

Select item 149013919318.

rs1490139193 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:6630803 (GRCh38)
11:6652034 (GRCh37)
Canonical SPDI:: NC_000011.10:6630802:C:A
Gene:: DCHS1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000011.10:g.6630803C>A, NC_000011.9:g.6652034C>A, NG_033858.2:g.30047G>T, NM_003737.4:c.3991G>T, NM_003737.3:c.3991G>T, NM_003737.2:c.3991G>T, NP_003728.1:p.Ala1331Ser

Select item 149009484119.

rs1490094841 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6645761 (GRCh38)
11:6666992 (GRCh37)
Canonical SPDI:: NC_000011.10:6645760:G:A
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.6645761G>A, NC_000011.9:g.6666992G>A, NG_033858.2:g.15089C>T

Select item 149004903420.

rs1490049034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6636897 (GRCh38)
11:6658128 (GRCh37)
Canonical SPDI:: NC_000011.10:6636896:C:T
Gene:: DCHS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6636897C>T, NC_000011.9:g.6658128C>T, NG_033858.2:g.23953G>A

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