SNP Links for Gene (Select 126) - SNP

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Select item 14915780161.

rs1491578016 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 4:99342010 (GRCh38)
4:100263167 (GRCh37)
Canonical SPDI:: NC_000004.12:99342009:CA:
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000004.12:g.99342010_99342011del, NC_000004.11:g.100263167_100263168del, NG_011718.1:g.15750_15751del

Select item 14914836402.

rs1491483640 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT,ATAT [Show Flanks]
Chromosome:: 4:99338391 (GRCh38)
4:100259549 (GRCh37)
Canonical SPDI:: NC_000004.12:99338391:T:TAT,NC_000004.12:99338391:T:TATAT
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
HGVS:: NC_000004.12:g.99338392_99338393insAT, NC_000004.12:g.99338392_99338393insATAT, NC_000004.11:g.100259549_100259550insAT, NC_000004.11:g.100259549_100259550insATAT, NG_011718.1:g.19369_19370insTA, NG_011718.1:g.19369_19370insTATA

Select item 14913362783.

rs1491336278 has merged into rs1464447552 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT,TTTTTT [Show Flanks]
Chromosome:: 4:99338393 (GRCh38)
4:100259550 (GRCh37)
Canonical SPDI:: NC_000004.12:99338390:TTTT:TT,NC_000004.12:99338390:TTTT:TTTTTT,NC_000004.12:99338390:TTTT:TTTTTTTT
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.00006/1 (ALFA)
HGVS:: NC_000004.12:g.99338393_99338394del, NC_000004.12:g.99338393_99338394dup, NC_000004.12:g.99338391_99338394dup, NC_000004.11:g.100259550_100259551del, NC_000004.11:g.100259550_100259551dup, NC_000004.11:g.100259548_100259551dup, NG_011718.1:g.19369_19370del, NG_011718.1:g.19369_19370dup, NG_011718.1:g.19367_19370dup

Select item 14911697874.

rs1491169787 has merged into rs70956001 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTG>-,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 4:99349816 (GRCh38)
4:100270973 (GRCh37)
Canonical SPDI:: NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000004.12:99349805:TGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
TG=0.04812/241 (1000Genomes)
TG=0.175/7 (GENOME_DK)
HGVS:: NC_000004.12:g.99349806TG[5], NC_000004.12:g.99349806TG[7], NC_000004.12:g.99349806TG[8], NC_000004.12:g.99349806TG[9], NC_000004.12:g.99349806TG[10], NC_000004.12:g.99349806TG[12], NC_000004.12:g.99349806TG[13], NC_000004.12:g.99349806TG[14], NC_000004.12:g.99349806TG[15], NC_000004.11:g.100270963TG[5], NC_000004.11:g.100270963TG[7], NC_000004.11:g.100270963TG[8], NC_000004.11:g.100270963TG[9], NC_000004.11:g.100270963TG[10], NC_000004.11:g.100270963TG[12], NC_000004.11:g.100270963TG[13], NC_000004.11:g.100270963TG[14], NC_000004.11:g.100270963TG[15], NG_011718.1:g.7934CA[5], NG_011718.1:g.7934CA[7], NG_011718.1:g.7934CA[8], NG_011718.1:g.7934CA[9], NG_011718.1:g.7934CA[10], NG_011718.1:g.7934CA[12], NG_011718.1:g.7934CA[13], NG_011718.1:g.7934CA[14], NG_011718.1:g.7934CA[15]

Select item 14911571705.

rs1491157170 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GT,T [Show Flanks]
Chromosome:: 4:99339521 (GRCh38)
4:100260679 (GRCh37)
Canonical SPDI:: NC_000004.12:99339521::GA,NC_000004.12:99339521::GT,NC_000004.12:99339521::T
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000004.12:g.99339521_99339522insGA, NC_000004.12:g.99339521_99339522insGT, NC_000004.12:g.99339521_99339522insT, NC_000004.11:g.100260678_100260679insGA, NC_000004.11:g.100260678_100260679insGT, NC_000004.11:g.100260678_100260679insT, NG_011718.1:g.18239_18240insTC, NG_011718.1:g.18239_18240insAC, NG_011718.1:g.18239_18240insA

Select item 14911303876.

rs1491130387 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 4:99342010 (GRCh38)
4:100263168 (GRCh37)
Canonical SPDI:: NC_000004.12:99342010::CA
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0.00008/1 (ALFA)
HGVS:: NC_000004.12:g.99342010_99342011insCA, NC_000004.11:g.100263167_100263168insCA, NG_011718.1:g.15750_15751insTG

Select item 14910012357.

rs1491001235 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:99336692 (GRCh38)
4:100257849 (GRCh37)
Canonical SPDI:: NC_000004.12:99336691:C:A
Gene:: ADH1C (Varview)
Functional Consequence:: 3_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000895/4 (ALFA)
A=0.000036/5 (GnomAD)
A=0.000893/4 (Estonian)
HGVS:: NC_000004.12:g.99336692C>A, NC_000004.11:g.100257849C>A, NG_011718.1:g.21069G>T, NM_000669.5:c.*60G>T, NM_000669.4:c.*60G>T, NM_000669.3:c.*60G>T, NR_133005.2:n.1215G>T, NR_133005.1:n.1514G>T

Select item 14908486808.

rs1490848680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99345039 (GRCh38)
4:100266196 (GRCh37)
Canonical SPDI:: NC_000004.12:99345038:C:T
Gene:: ADH1C (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.99345039C>T, NC_000004.11:g.100266196C>T, NG_011718.1:g.12722G>A, NM_000669.5:c.390G>A, NM_000669.4:c.390G>A, NM_000669.3:c.390G>A, NR_133005.2:n.461G>A, NR_133005.1:n.760G>A

Select item 14903035199.

rs1490303519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:99345848 (GRCh38)
4:100267005 (GRCh37)
Canonical SPDI:: NC_000004.12:99345847:A:T
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000004.12:g.99345848A>T, NC_000004.11:g.100267005A>T, NG_011718.1:g.11913T>A

Select item 149025789210.

rs1490257892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:99353269 (GRCh38)
4:100274426 (GRCh37)
Canonical SPDI:: NC_000004.12:99353268:C:T
Gene:: ADH1C (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=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.99353269C>T, NC_000004.11:g.100274426C>T, NG_011718.1:g.4492G>A, NG_055567.1:g.678C>T

Select item 149023778511.

rs1490237785 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:99354872 (GRCh38)
4:100276029 (GRCh37)
Canonical SPDI:: NC_000004.12:99354871:T:C
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.99354872T>C, NC_000004.11:g.100276029T>C, NG_011718.1:g.2889A>G

Select item 149018061712.

rs1490180617 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:99339133 (GRCh38)
4:100260290 (GRCh37)
Canonical SPDI:: NC_000004.12:99339132:T:A
Gene:: ADH1C (Varview)
Functional Consequence:: intron_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_000004.12:g.99339133T>A, NC_000004.11:g.100260290T>A, NG_011718.1:g.18628A>T

Select item 149015525713.

rs1490155257 has merged into rs35124782 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATATATA>-,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 4:99338408 (GRCh38)
4:100259565 (GRCh37)
Canonical SPDI:: NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000004.12:99338395:TATATATATATATATATATATATATATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
HGVS:: NC_000004.12:g.99338396TA[6], NC_000004.12:g.99338396TA[8], NC_000004.12:g.99338396TA[9], NC_000004.12:g.99338396TA[10], NC_000004.12:g.99338396TA[11], NC_000004.12:g.99338396TA[12], NC_000004.12:g.99338396TA[13], NC_000004.12:g.99338396TA[14], NC_000004.12:g.99338396TA[15], NC_000004.12:g.99338396TA[16], NC_000004.12:g.99338396TA[17], NC_000004.12:g.99338396TA[18], NC_000004.12:g.99338396TA[19], NC_000004.12:g.99338396TA[20], NC_000004.12:g.99338396TA[21], NC_000004.12:g.99338396TA[22], NC_000004.12:g.99338396TA[23], NC_000004.12:g.99338396TA[24], NC_000004.12:g.99338396TA[26], NC_000004.12:g.99338396TA[27], NC_000004.12:g.99338396TA[28], NC_000004.12:g.99338396TA[29], NC_000004.12:g.99338396TA[30], NC_000004.12:g.99338396TA[31], NC_000004.12:g.99338396TA[32], NC_000004.12:g.99338396TA[33], NC_000004.11:g.100259553TA[6], NC_000004.11:g.100259553TA[8], NC_000004.11:g.100259553TA[9], NC_000004.11:g.100259553TA[10], NC_000004.11:g.100259553TA[11], NC_000004.11:g.100259553TA[12], NC_000004.11:g.100259553TA[13], NC_000004.11:g.100259553TA[14], NC_000004.11:g.100259553TA[15], NC_000004.11:g.100259553TA[16], NC_000004.11:g.100259553TA[17], NC_000004.11:g.100259553TA[18], NC_000004.11:g.100259553TA[19], NC_000004.11:g.100259553TA[20], NC_000004.11:g.100259553TA[21], NC_000004.11:g.100259553TA[22], NC_000004.11:g.100259553TA[23], NC_000004.11:g.100259553TA[24], NC_000004.11:g.100259553TA[26], NC_000004.11:g.100259553TA[27], NC_000004.11:g.100259553TA[28], NC_000004.11:g.100259553TA[29], NC_000004.11:g.100259553TA[30], NC_000004.11:g.100259553TA[31], NC_000004.11:g.100259553TA[32], NC_000004.11:g.100259553TA[33], NG_011718.1:g.19316TA[6], NG_011718.1:g.19316TA[8], NG_011718.1:g.19316TA[9], NG_011718.1:g.19316TA[10], NG_011718.1:g.19316TA[11], NG_011718.1:g.19316TA[12], NG_011718.1:g.19316TA[13], NG_011718.1:g.19316TA[14], NG_011718.1:g.19316TA[15], NG_011718.1:g.19316TA[16], NG_011718.1:g.19316TA[17], NG_011718.1:g.19316TA[18], NG_011718.1:g.19316TA[19], NG_011718.1:g.19316TA[20], NG_011718.1:g.19316TA[21], NG_011718.1:g.19316TA[22], NG_011718.1:g.19316TA[23], NG_011718.1:g.19316TA[24], NG_011718.1:g.19316TA[26], NG_011718.1:g.19316TA[27], NG_011718.1:g.19316TA[28], NG_011718.1:g.19316TA[29], NG_011718.1:g.19316TA[30], NG_011718.1:g.19316TA[31], NG_011718.1:g.19316TA[32], NG_011718.1:g.19316TA[33]

Select item 149014761914.

rs1490147619 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:99337591 (GRCh38)
4:100258748 (GRCh37)
Canonical SPDI:: NC_000004.12:99337590:T:A
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.99337591T>A, NC_000004.11:g.100258748T>A, NG_011718.1:g.20170A>T

Select item 149011691915.

rs1490116919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 4:99352679 (GRCh38)
4:100273836 (GRCh37)
Canonical SPDI:: NC_000004.12:99352678:G:C
Gene:: ADH1C (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.99352679G>C, NC_000004.11:g.100273836G>C, NG_011718.1:g.5082C>G, NM_000669.5:c.-4C>G, NM_000669.4:c.-4C>G, NM_000669.3:c.-4C>G, NR_133005.2:n.68C>G, NR_133005.1:n.367C>G, NG_055567.1:g.88G>C

Select item 148995276316.

rs1489952763 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:99352275 (GRCh38)
4:100273433 (GRCh37)
Canonical SPDI:: NC_000004.12:99352275::C
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.99352275_99352276insC, NC_000004.11:g.100273432_100273433insC, NG_011718.1:g.5485_5486insG

Select item 148970779317.

rs1489707793 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 4:99354080 (GRCh38)
4:100275237 (GRCh37)
Canonical SPDI:: NC_000004.12:99354079:T:
Gene:: ADH1C (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000084/1 (ALFA)
-=0.00005/7 (GnomAD)
-=0.000053/14 (TOPMED)
HGVS:: NC_000004.12:g.99354080del, NC_000004.11:g.100275237del, NG_011718.1:g.3681del, NG_055567.1:g.1489del

Select item 148966864318.

rs1489668643 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:99346543 (GRCh38)
4:100267700 (GRCh37)
Canonical SPDI:: NC_000004.12:99346542:A:G
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.99346543A>G, NC_000004.11:g.100267700A>G, NG_011718.1:g.11218T>C

Select item 148926913519.

rs1489269135 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:99350063 (GRCh38)
4:100271220 (GRCh37)
Canonical SPDI:: NC_000004.12:99350062:C:A
Gene:: ADH1C (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.99350063C>A, NC_000004.11:g.100271220C>A, NG_011718.1:g.7698G>T

Select item 148921139320.

rs1489211393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:99336860 (GRCh38)
4:100258017 (GRCh37)
Canonical SPDI:: NC_000004.12:99336859:G:T
Gene:: ADH1C (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)
HGVS:: NC_000004.12:g.99336860G>T, NC_000004.11:g.100258017G>T, NG_011718.1:g.20901C>A

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