SNP Links for Gene (Select 1358) - SNP

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Select item 14914812481.

rs1491481248 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATTC,CTTC [Show Flanks]
Chromosome:: 7:130267784 (GRCh38)
7:129907625 (GRCh37)
Canonical SPDI:: NC_000007.14:130267784:TTC:TTCATTC,NC_000007.14:130267784:TTC:TTCCTTC
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCCTTC=0./0 (ALFA)
HGVS:: NC_000007.14:g.130267787_130267788insATTC, NC_000007.14:g.130267787_130267788insCTTC, NC_000007.13:g.129907627_129907628insATTC, NC_000007.13:g.129907627_129907628insCTTC

Select item 14913257482.

rs1491325748 has merged into rs71178569 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTAATAAGAGTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:130273686 (GRCh38)
7:129913526 (GRCh37)
Canonical SPDI:: NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTAATAAGAGTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:130273676:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000007.14:g.130273686_130273694del, NC_000007.14:g.130273687_130273694del, NC_000007.14:g.130273688_130273694del, NC_000007.14:g.130273689_130273694del, NC_000007.14:g.130273690_130273694del, NC_000007.14:g.130273691_130273694del, NC_000007.14:g.130273692_130273694del, NC_000007.14:g.130273693_130273694del, NC_000007.14:g.130273694del, NC_000007.14:g.130273694dup, NC_000007.14:g.130273693_130273694dup, NC_000007.14:g.130273692_130273694dup, NC_000007.14:g.130273691_130273694dup, NC_000007.14:g.130273690_130273694dup, NC_000007.14:g.130273689_130273694dup, NC_000007.14:g.130273688_130273694dup, NC_000007.14:g.130273687_130273694dup, NC_000007.14:g.130273677_130273694T[26]AATAAGAGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.14:g.130273686_130273694dup, NC_000007.14:g.130273685_130273694dup, NC_000007.14:g.130273682_130273694dup, NC_000007.14:g.130273681_130273694dup, NC_000007.14:g.130273680_130273694dup, NC_000007.14:g.130273679_130273694dup, NC_000007.14:g.130273678_130273694dup, NC_000007.14:g.130273677_130273694dup, NC_000007.14:g.130273694_130273695insTTTTTTTTTTTTTTTTTTT, NC_000007.14:g.130273694_130273695insTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.129913526_129913534del, NC_000007.13:g.129913527_129913534del, NC_000007.13:g.129913528_129913534del, NC_000007.13:g.129913529_129913534del, NC_000007.13:g.129913530_129913534del, NC_000007.13:g.129913531_129913534del, NC_000007.13:g.129913532_129913534del, NC_000007.13:g.129913533_129913534del, NC_000007.13:g.129913534del, NC_000007.13:g.129913534dup, NC_000007.13:g.129913533_129913534dup, NC_000007.13:g.129913532_129913534dup, NC_000007.13:g.129913531_129913534dup, NC_000007.13:g.129913530_129913534dup, NC_000007.13:g.129913529_129913534dup, NC_000007.13:g.129913528_129913534dup, NC_000007.13:g.129913527_129913534dup, NC_000007.13:g.129913517_129913534T[26]AATAAGAGTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000007.13:g.129913526_129913534dup, NC_000007.13:g.129913525_129913534dup, NC_000007.13:g.129913522_129913534dup, NC_000007.13:g.129913521_129913534dup, NC_000007.13:g.129913520_129913534dup, NC_000007.13:g.129913519_129913534dup, NC_000007.13:g.129913518_129913534dup, NC_000007.13:g.129913517_129913534dup, NC_000007.13:g.129913534_129913535insTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.129913534_129913535insTTTTTTTTTTTTTTTTTTTT

Select item 14912882093.

rs1491288209 has merged into rs71178568 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGTGT>-,GT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 7:130268309 (GRCh38)
7:129908149 (GRCh37)
Canonical SPDI:: NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:130268296:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130268297GT[6], NC_000007.14:g.130268297GT[7], NC_000007.14:g.130268297GT[10], NC_000007.14:g.130268297GT[11], NC_000007.14:g.130268297GT[13], NC_000007.14:g.130268297GT[14], NC_000007.14:g.130268297GT[15], NC_000007.14:g.130268297GT[16], NC_000007.14:g.130268297GT[17], NC_000007.14:g.130268297GT[18], NC_000007.14:g.130268297GT[19], NC_000007.14:g.130268297GT[21], NC_000007.14:g.130268297GT[22], NC_000007.14:g.130268297GT[23], NC_000007.14:g.130268297GT[24], NC_000007.14:g.130268297GT[25], NC_000007.14:g.130268297GT[31], NC_000007.13:g.129908137GT[6], NC_000007.13:g.129908137GT[7], NC_000007.13:g.129908137GT[10], NC_000007.13:g.129908137GT[11], NC_000007.13:g.129908137GT[13], NC_000007.13:g.129908137GT[14], NC_000007.13:g.129908137GT[15], NC_000007.13:g.129908137GT[16], NC_000007.13:g.129908137GT[17], NC_000007.13:g.129908137GT[18], NC_000007.13:g.129908137GT[19], NC_000007.13:g.129908137GT[21], NC_000007.13:g.129908137GT[22], NC_000007.13:g.129908137GT[23], NC_000007.13:g.129908137GT[24], NC_000007.13:g.129908137GT[25], NC_000007.13:g.129908137GT[31]

Select item 14911399394.

rs1491139939 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTCTTTCTTTCTTTCTTTCC [Show Flanks]
Chromosome:: 7:130267776 (GRCh38)
7:129907617 (GRCh37)
Canonical SPDI:: NC_000007.14:130267776::C,NC_000007.14:130267776::CTCTTTCTTTCTTTCTTTCC
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000007.14:g.130267776_130267777insC, NC_000007.14:g.130267776_130267777insCTCTTTCTTTCTTTCTTTCC, NC_000007.13:g.129907616_129907617insC, NC_000007.13:g.129907616_129907617insCTCTTTCTTTCTTTCTTTCC

Select item 14910833395.

rs1491083339 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:130267836 (GRCh38)
7:129907676 (GRCh37)
Canonical SPDI:: NC_000007.14:130267834:CAC:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00004/1 (TOMMO)
HGVS:: NC_000007.14:g.130267836_130267837del, NC_000007.13:g.129907676_129907677del

Select item 14908193676.

rs1490819367 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130275014 (GRCh38)
7:129914854 (GRCh37)
Canonical SPDI:: NC_000007.14:130275013:A:G
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130275014A>G, NC_000007.13:g.129914854A>G

Select item 14903720697.

rs1490372069 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:130285148 (GRCh38)
7:129924988 (GRCh37)
Canonical SPDI:: NC_000007.14:130285147:G:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.130285148G>C, NC_000007.13:g.129924988G>C

Select item 14903538398.

rs1490353839 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130269113 (GRCh38)
7:129908953 (GRCh37)
Canonical SPDI:: NC_000007.14:130269112:T:C
Gene:: CPA2 (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_000007.14:g.130269113T>C, NC_000007.13:g.129908953T>C

Select item 14898131169.

rs1489813116 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:130279262 (GRCh38)
7:129919102 (GRCh37)
Canonical SPDI:: NC_000007.14:130279261:A:G
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130279262A>G, NC_000007.13:g.129919102A>G

Select item 148966720410.

rs1489667204 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 7:130282249 (GRCh38)
7:129922089 (GRCh37)
Canonical SPDI:: NC_000007.14:130282248:T:
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130282249del, NC_000007.13:g.129922089del

Select item 148955698911.

rs1489556989 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:130277335 (GRCh38)
7:129917175 (GRCh37)
Canonical SPDI:: NC_000007.14:130277334:TG:
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130277335_130277336del, NC_000007.13:g.129917175_129917176del

Select item 148945972212.

rs1489459722 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130277740 (GRCh38)
7:129917580 (GRCh37)
Canonical SPDI:: NC_000007.14:130277739:T:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.130277740T>C, NC_000007.13:g.129917580T>C

Select item 148941958113.

rs1489419581 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:130289747 (GRCh38)
7:129929587 (GRCh37)
Canonical SPDI:: NC_000007.14:130289746:G:C
Gene:: CPA2 (Varview)
Functional Consequence:: terminator_codon_variant,stop_lost
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130289747G>C, NC_000007.13:g.129929587G>C, NG_011788.2:g.1614G>C, NM_001869.3:c.1260G>C, NM_001869.2:c.1260G>C, NP_001860.2:p.Ter420Tyr

Select item 148919319914.

rs1489193199 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:130274237 (GRCh38)
7:129914077 (GRCh37)
Canonical SPDI:: NC_000007.14:130274236:G:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130274237G>C, NC_000007.13:g.129914077G>C

Select item 148917373315.

rs1489173733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130276863 (GRCh38)
7:129916703 (GRCh37)
Canonical SPDI:: NC_000007.14:130276862:T:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.130276863T>C, NC_000007.13:g.129916703T>C

Select item 148914202016.

rs1489142020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:130273755 (GRCh38)
7:129913595 (GRCh37)
Canonical SPDI:: NC_000007.14:130273754:C:T
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130273755C>T, NC_000007.13:g.129913595C>T

Select item 148912570817.

rs1489125708 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:130266968 (GRCh38)
7:129906808 (GRCh37)
Canonical SPDI:: NC_000007.14:130266967:T:C
Gene:: CPA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000023/6 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000007.14:g.130266968T>C, NC_000007.13:g.129906808T>C

Select item 148912565118.

rs1489125651 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 7:130266290 (GRCh38)
7:129906130 (GRCh37)
Canonical SPDI:: NC_000007.14:130266289:A:G,NC_000007.14:130266289:A:T
Gene:: CPA2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130266290A>G, NC_000007.14:g.130266290A>T, NC_000007.13:g.129906130A>G, NC_000007.13:g.129906130A>T

Select item 148912538819.

rs1489125388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:130277879 (GRCh38)
7:129917719 (GRCh37)
Canonical SPDI:: NC_000007.14:130277878:T:C,NC_000007.14:130277878:T:G
Gene:: CPA2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.130277879T>C, NC_000007.14:g.130277879T>G, NC_000007.13:g.129917719T>C, NC_000007.13:g.129917719T>G, NM_001869.3:c.750T>C, NM_001869.3:c.750T>G, NM_001869.2:c.750T>C, NM_001869.2:c.750T>G

Select item 148908612020.

rs1489086120 [Homo sapiens]

Variant type:: DEL
Alleles:: CAAT>- [Show Flanks]
Chromosome:: 7:130268984 (GRCh38)
7:129908824 (GRCh37)
Canonical SPDI:: NC_000007.14:130268983:CAAT:
Gene:: CPA2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.130268984_130268987del, NC_000007.13:g.129908824_129908827del, NM_001869.3:c.127_130del, NM_001869.2:c.127_130del, NP_001860.2:p.Gln43fs

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