SNP Links for Gene (Select 80303) - SNP

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Select item 14915411431.

rs1491541143 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 2:232673908 (GRCh38)
2:233538619 (GRCh37)
Canonical SPDI:: NC_000002.12:232673908:T:TCT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000002.12:g.232673909_232673910insCT, NC_000002.11:g.233538619_233538620insCT, NG_051251.1:g.72853_72854insCT

Select item 14915355652.

rs1491535565 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 2:232614021 (GRCh38)
2:233478731 (GRCh37)
Canonical SPDI:: NC_000002.12:232614019:AAA:A
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.232614021_232614022del, NC_000002.11:g.233478731_233478732del, NG_051251.1:g.12965_12966del

Select item 14915288253.

rs1491528825 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCAC [Show Flanks]
Chromosome:: 2:232677208 (GRCh38)
2:233541919 (GRCh37)
Canonical SPDI:: NC_000002.12:232677208:CAC:CACTCAC
Gene:: EFHD1 (Varview), LOC124906169 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACTCAC=0./0 (ALFA)
CACT=0.0003/5 (TOMMO)
CACT=0.00062/4 (GnomAD)
HGVS:: NC_000002.12:g.232677211_232677212insTCAC, NC_000002.11:g.233541921_233541922insTCAC, NG_051251.1:g.76155_76156insTCAC

Select item 14915270314.

rs1491527031 has merged into rs35239145 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:232615329 (GRCh38)
2:233480039 (GRCh37)
Canonical SPDI:: NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:232615312:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.232615313GT[8], NC_000002.12:g.232615313GT[10], NC_000002.12:g.232615313GT[11], NC_000002.12:g.232615313GT[12], NC_000002.12:g.232615313GT[13], NC_000002.12:g.232615313GT[14], NC_000002.12:g.232615313GT[15], NC_000002.12:g.232615313GT[16], NC_000002.12:g.232615313GT[17], NC_000002.12:g.232615313GT[18], NC_000002.12:g.232615313GT[19], NC_000002.12:g.232615313GT[21], NC_000002.12:g.232615313GT[22], NC_000002.12:g.232615313GT[23], NC_000002.12:g.232615313GT[24], NC_000002.12:g.232615313GT[25], NC_000002.12:g.232615313GT[26], NC_000002.12:g.232615313GT[27], NC_000002.12:g.232615313GT[28], NC_000002.12:g.232615313GT[29], NC_000002.11:g.233480023GT[8], NC_000002.11:g.233480023GT[10], NC_000002.11:g.233480023GT[11], NC_000002.11:g.233480023GT[12], NC_000002.11:g.233480023GT[13], NC_000002.11:g.233480023GT[14], NC_000002.11:g.233480023GT[15], NC_000002.11:g.233480023GT[16], NC_000002.11:g.233480023GT[17], NC_000002.11:g.233480023GT[18], NC_000002.11:g.233480023GT[19], NC_000002.11:g.233480023GT[21], NC_000002.11:g.233480023GT[22], NC_000002.11:g.233480023GT[23], NC_000002.11:g.233480023GT[24], NC_000002.11:g.233480023GT[25], NC_000002.11:g.233480023GT[26], NC_000002.11:g.233480023GT[27], NC_000002.11:g.233480023GT[28], NC_000002.11:g.233480023GT[29], NG_051251.1:g.14257GT[8], NG_051251.1:g.14257GT[10], NG_051251.1:g.14257GT[11], NG_051251.1:g.14257GT[12], NG_051251.1:g.14257GT[13], NG_051251.1:g.14257GT[14], NG_051251.1:g.14257GT[15], NG_051251.1:g.14257GT[16], NG_051251.1:g.14257GT[17], NG_051251.1:g.14257GT[18], NG_051251.1:g.14257GT[19], NG_051251.1:g.14257GT[21], NG_051251.1:g.14257GT[22], NG_051251.1:g.14257GT[23], NG_051251.1:g.14257GT[24], NG_051251.1:g.14257GT[25], NG_051251.1:g.14257GT[26], NG_051251.1:g.14257GT[27], NG_051251.1:g.14257GT[28], NG_051251.1:g.14257GT[29]

Select item 14915026415.

rs1491502641 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 2:232613828 (GRCh38)
2:233478539 (GRCh37)
Canonical SPDI:: NC_000002.12:232613828:T:TGT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
TG=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.232613829_232613830insGT, NC_000002.11:g.233478539_233478540insGT, NG_051251.1:g.12773_12774insGT

Select item 14914223326.

rs1491422332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:232613831 (GRCh38)
2:233478541 (GRCh37)
Canonical SPDI:: NC_000002.12:232613827:ATATA:ATA
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0.000084/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000048/1 (TOMMO)
HGVS:: NC_000002.12:g.232613829TA[1], NC_000002.11:g.233478539TA[1], NG_051251.1:g.12773TA[1]

Select item 14914200207.

rs1491420020 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:232615684 (GRCh38)
2:233480394 (GRCh37)
Canonical SPDI:: NC_000002.12:232615683:CT:
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000009/1 (GnomAD)
HGVS:: NC_000002.12:g.232615684_232615685del, NC_000002.11:g.233480394_233480395del, NG_051251.1:g.14628_14629del

Select item 14914084248.

rs1491408424 has merged into rs138706897 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 2:232613615 (GRCh38)
2:233478325 (GRCh37)
Canonical SPDI:: NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000002.12:232613602:CACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA
Gene:: EFHD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACA=0./0 (ALFA)
-=0.0314/6 (Vietnamese)
-=0.246/948 (ALSPAC)
HGVS:: NC_000002.12:g.232613603CA[6], NC_000002.12:g.232613603CA[8], NC_000002.12:g.232613603CA[9], NC_000002.12:g.232613603CA[10], NC_000002.12:g.232613603CA[11], NC_000002.12:g.232613603CA[12], NC_000002.12:g.232613603CA[13], NC_000002.12:g.232613603CA[14], NC_000002.12:g.232613603CA[16], NC_000002.12:g.232613603CA[17], NC_000002.12:g.232613603CA[18], NC_000002.12:g.232613603CA[19], NC_000002.11:g.233478313CA[6], NC_000002.11:g.233478313CA[8], NC_000002.11:g.233478313CA[9], NC_000002.11:g.233478313CA[10], NC_000002.11:g.233478313CA[11], NC_000002.11:g.233478313CA[12], NC_000002.11:g.233478313CA[13], NC_000002.11:g.233478313CA[14], NC_000002.11:g.233478313CA[16], NC_000002.11:g.233478313CA[17], NC_000002.11:g.233478313CA[18], NC_000002.11:g.233478313CA[19], NG_051251.1:g.12547CA[6], NG_051251.1:g.12547CA[8], NG_051251.1:g.12547CA[9], NG_051251.1:g.12547CA[10], NG_051251.1:g.12547CA[11], NG_051251.1:g.12547CA[12], NG_051251.1:g.12547CA[13], NG_051251.1:g.12547CA[14], NG_051251.1:g.12547CA[16], NG_051251.1:g.12547CA[17], NG_051251.1:g.12547CA[18], NG_051251.1:g.12547CA[19]

Select item 14913892239.

rs1491389223 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT [Show Flanks]
Chromosome:: 2:232660203 (GRCh38)
2:233524914 (GRCh37)
Canonical SPDI:: NC_000002.12:232660203:TT:TTATT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTATT=0.00076/9 (ALFA)
TTA=0.00282/111 (GnomAD)
HGVS:: NC_000002.12:g.232660205_232660206insATT, NC_000002.11:g.233524915_233524916insATT, NG_051251.1:g.59149_59150insATT

Select item 149138128210.

rs1491381282 has merged into rs11409819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:232673914 (GRCh38)
2:233538624 (GRCh37)
Canonical SPDI:: NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.0881/441 (1000Genomes)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.232673914_232673926del, NC_000002.12:g.232673918_232673926del, NC_000002.12:g.232673922_232673926del, NC_000002.12:g.232673923_232673926del, NC_000002.12:g.232673924_232673926del, NC_000002.12:g.232673925_232673926del, NC_000002.12:g.232673926del, NC_000002.12:g.232673926dup, NC_000002.12:g.232673925_232673926dup, NC_000002.12:g.232673924_232673926dup, NC_000002.12:g.232673923_232673926dup, NC_000002.12:g.232673922_232673926dup, NC_000002.12:g.232673921_232673926dup, NC_000002.12:g.232673920_232673926dup, NC_000002.12:g.232673919_232673926dup, NC_000002.11:g.233538624_233538636del, NC_000002.11:g.233538628_233538636del, NC_000002.11:g.233538632_233538636del, NC_000002.11:g.233538633_233538636del, NC_000002.11:g.233538634_233538636del, NC_000002.11:g.233538635_233538636del, NC_000002.11:g.233538636del, NC_000002.11:g.233538636dup, NC_000002.11:g.233538635_233538636dup, NC_000002.11:g.233538634_233538636dup, NC_000002.11:g.233538633_233538636dup, NC_000002.11:g.233538632_233538636dup, NC_000002.11:g.233538631_233538636dup, NC_000002.11:g.233538630_233538636dup, NC_000002.11:g.233538629_233538636dup, NG_051251.1:g.72858_72870del, NG_051251.1:g.72862_72870del, NG_051251.1:g.72866_72870del, NG_051251.1:g.72867_72870del, NG_051251.1:g.72868_72870del, NG_051251.1:g.72869_72870del, NG_051251.1:g.72870del, NG_051251.1:g.72870dup, NG_051251.1:g.72869_72870dup, NG_051251.1:g.72868_72870dup, NG_051251.1:g.72867_72870dup, NG_051251.1:g.72866_72870dup, NG_051251.1:g.72865_72870dup, NG_051251.1:g.72864_72870dup, NG_051251.1:g.72863_72870dup

Select item 149137951711.

rs1491379517 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACATATACACACATGCACACACGT [Show Flanks]
Chromosome:: 2:232614072 (GRCh38)
2:233478783 (GRCh37)
Canonical SPDI:: NC_000002.12:232614072:T:TACATATACACACATGCACACACGT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACATATACACACATGCACACACGT=0.000061/1 (ALFA)
TACATATACACACATGCACACACG=0.00045/63 (GnomAD)
HGVS:: NC_000002.12:g.232614073_232614074insACATATACACACATGCACACACGT, NC_000002.11:g.233478783_233478784insACATATACACACATGCACACACGT, NG_051251.1:g.13017_13018insACATATACACACATGCACACACGT

Select item 149136598112.

rs1491365981 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACACATGCA,TACATACACATGCA [Show Flanks]
Chromosome:: 2:232614044 (GRCh38)
2:233478755 (GRCh37)
Canonical SPDI:: NC_000002.12:232614044:CA:CATACACATGCA,NC_000002.12:232614044:CA:CATACATACACATGCA
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATACACATGCA=0./0 (ALFA)
CATACACATG=0.00002/1 (GnomAD)
CATACATACACATG=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.232614046_232614047insTACACATGCA, NC_000002.12:g.232614045_232614046CATA[2]CA[2]TGCA[1], NC_000002.11:g.233478756_233478757insTACACATGCA, NC_000002.11:g.233478755_233478756CATA[2]CA[2]TGCA[1], NG_051251.1:g.12990_12991insTACACATGCA, NG_051251.1:g.12989_12990CATA[2]CA[2]TGCA[1]

Select item 149135543513.

rs1491355435 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCACACACATACACACCT,GCACACACATTATACACACCT,GCACACACATTATACACACGT [Show Flanks]
Chromosome:: 2:232614083 (GRCh38)
2:233478794 (GRCh37)
Canonical SPDI:: NC_000002.12:232614083:T:TGCACACACATACACACCT,NC_000002.12:232614083:T:TGCACACACATTATACACACCT,NC_000002.12:232614083:T:TGCACACACATTATACACACGT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCACACACATACACACCT=0./0 (ALFA)
TGCACACACATTATACACACG=0.00004/1 (TOMMO)
TGCACACACATTATACACACC=0.005785/800 (GnomAD)
TGCACACACATTATACACACC=0.006715/43 (1000Genomes)
HGVS:: NC_000002.12:g.232614084_232614085insGCACACACATACACACCT, NC_000002.12:g.232614084_232614085insGCACACACATTATACACACCT, NC_000002.12:g.232614084_232614085insGCACACACATTATACACACGT, NC_000002.11:g.233478794_233478795insGCACACACATACACACCT, NC_000002.11:g.233478794_233478795insGCACACACATTATACACACCT, NC_000002.11:g.233478794_233478795insGCACACACATTATACACACGT, NG_051251.1:g.13028_13029insGCACACACATACACACCT, NG_051251.1:g.13028_13029insGCACACACATTATACACACCT, NG_051251.1:g.13028_13029insGCACACACATTATACACACGT

Select item 149134061514.

rs1491340615 [Homo sapiens]

Variant type:: INS
Alleles:: ->GAGA,GAGATTGCAGGCATGAGCCACCATGCCCAGCTGCC,GAGATTGCAGGCG,GAGATTGCAGGCGTAAGCCACCATGCCCAGCTGCC,GAGATTGCAGGCGTGAGCCACCA,GAGATTGCAGGCGTGAGCCACCATGCCCAGC,GAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC,GAGATTGCAGGCGTGAGCCACCATGCCCAGTTGCC,GAGATTGCAGGCGTGAGCCACCTTGCCCAGCTGCC [Show Flanks]
Chromosome:: 2:232650561 (GRCh38)
2:233515272 (GRCh37)
Canonical SPDI:: NC_000002.12:232650561::GAGA,NC_000002.12:232650561::GAGATTGCAGGCATGAGCCACCATGCCCAGCTGCC,NC_000002.12:232650561::GAGATTGCAGGCG,NC_000002.12:232650561::GAGATTGCAGGCGTAAGCCACCATGCCCAGCTGCC,NC_000002.12:232650561::GAGATTGCAGGCGTGAGCCACCA,NC_000002.12:232650561::GAGATTGCAGGCGTGAGCCACCATGCCCAGC,NC_000002.12:232650561::GAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC,NC_000002.12:232650561::GAGATTGCAGGCGTGAGCCACCATGCCCAGTTGCC,NC_000002.12:232650561::GAGATTGCAGGCGTGAGCCACCTTGCCCAGCTGCC
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000002.12:g.232650561_232650562insGAGA, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCATGAGCCACCATGCCCAGCTGCC, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCG, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTAAGCCACCATGCCCAGCTGCC, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTGAGCCACCA, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTGAGCCACCATGCCCAGC, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTGAGCCACCATGCCCAGTTGCC, NC_000002.12:g.232650561_232650562insGAGATTGCAGGCGTGAGCCACCTTGCCCAGCTGCC, NC_000002.11:g.233515271_233515272insGAGA, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCATGAGCCACCATGCCCAGCTGCC, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCG, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTAAGCCACCATGCCCAGCTGCC, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTGAGCCACCA, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTGAGCCACCATGCCCAGC, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTGAGCCACCATGCCCAGTTGCC, NC_000002.11:g.233515271_233515272insGAGATTGCAGGCGTGAGCCACCTTGCCCAGCTGCC, NG_051251.1:g.49505_49506insGAGA, NG_051251.1:g.49505_49506insGAGATTGCAGGCATGAGCCACCATGCCCAGCTGCC, NG_051251.1:g.49505_49506insGAGATTGCAGGCG, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTAAGCCACCATGCCCAGCTGCC, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTGAGCCACCA, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTGAGCCACCATGCCCAGC, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTGAGCCACCATGCCCAGCTGCC, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTGAGCCACCATGCCCAGTTGCC, NG_051251.1:g.49505_49506insGAGATTGCAGGCGTGAGCCACCTTGCCCAGCTGCC

Select item 149131671715.

rs1491316717 [Homo sapiens]

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

Select item 149131619616.

rs1491316196 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 2:232615704 (GRCh38)
2:233480414 (GRCh37)
Canonical SPDI:: NC_000002.12:232615703:TG:
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.232615704_232615705del, NC_000002.11:g.233480414_233480415del, NG_051251.1:g.14648_14649del

Select item 149129382817.

rs1491293828 has merged into rs56085382 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:232627071 (GRCh38)
2:233491781 (GRCh37)
Canonical SPDI:: NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:232627064:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.232627071_232627079del, NC_000002.12:g.232627072_232627079del, NC_000002.12:g.232627073_232627079del, NC_000002.12:g.232627074_232627079del, NC_000002.12:g.232627075_232627079del, NC_000002.12:g.232627076_232627079del, NC_000002.12:g.232627077_232627079del, NC_000002.12:g.232627078_232627079del, NC_000002.12:g.232627079del, NC_000002.12:g.232627079dup, NC_000002.12:g.232627078_232627079dup, NC_000002.12:g.232627077_232627079dup, NC_000002.12:g.232627076_232627079dup, NC_000002.12:g.232627075_232627079dup, NC_000002.12:g.232627073_232627079dup, NC_000002.11:g.233491781_233491789del, NC_000002.11:g.233491782_233491789del, NC_000002.11:g.233491783_233491789del, NC_000002.11:g.233491784_233491789del, NC_000002.11:g.233491785_233491789del, NC_000002.11:g.233491786_233491789del, NC_000002.11:g.233491787_233491789del, NC_000002.11:g.233491788_233491789del, NC_000002.11:g.233491789del, NC_000002.11:g.233491789dup, NC_000002.11:g.233491788_233491789dup, NC_000002.11:g.233491787_233491789dup, NC_000002.11:g.233491786_233491789dup, NC_000002.11:g.233491785_233491789dup, NC_000002.11:g.233491783_233491789dup, NG_051251.1:g.26015_26023del, NG_051251.1:g.26016_26023del, NG_051251.1:g.26017_26023del, NG_051251.1:g.26018_26023del, NG_051251.1:g.26019_26023del, NG_051251.1:g.26020_26023del, NG_051251.1:g.26021_26023del, NG_051251.1:g.26022_26023del, NG_051251.1:g.26023del, NG_051251.1:g.26023dup, NG_051251.1:g.26022_26023dup, NG_051251.1:g.26021_26023dup, NG_051251.1:g.26020_26023dup, NG_051251.1:g.26019_26023dup, NG_051251.1:g.26017_26023dup

Select item 149127524318.

rs1491275243 has merged into rs1009734336 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 2:232614049 (GRCh38)
2:233478759 (GRCh37)
Canonical SPDI:: NC_000002.12:232614043:ACACACACA:ACACA,NC_000002.12:232614043:ACACACACA:ACACACA,NC_000002.12:232614043:ACACACACA:ACACACACACA
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACA=0./0 (ALFA)
-=0.000544/144 (TOPMED)
HGVS:: NC_000002.12:g.232614045CA[2], NC_000002.12:g.232614045CA[3], NC_000002.12:g.232614045CA[5], NC_000002.11:g.233478755CA[2], NC_000002.11:g.233478755CA[3], NC_000002.11:g.233478755CA[5], NG_051251.1:g.12989CA[2], NG_051251.1:g.12989CA[3], NG_051251.1:g.12989CA[5]

Select item 149122179919.

rs1491221799 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 2:232614086 (GRCh38)
2:233478796 (GRCh37)
Canonical SPDI:: NC_000002.12:232614082:ATATATA:ATA,NC_000002.12:232614082:ATATATA:ATATA
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0.000084/1 (ALFA)
-=0.000087/12 (GnomAD)
HGVS:: NC_000002.12:g.232614084TA[1], NC_000002.12:g.232614084TA[2], NC_000002.11:g.233478794TA[1], NC_000002.11:g.233478794TA[2], NG_051251.1:g.13028TA[1], NG_051251.1:g.13028TA[2]

Select item 149120640820.

rs1491206408 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:232615704 (GRCh38)
2:233480415 (GRCh37)
Canonical SPDI:: NC_000002.12:232615704::C
Gene:: EFHD1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.232615704_232615705insC, NC_000002.11:g.233480414_233480415insC, NG_051251.1:g.14648_14649insC

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