SNP Links for Gene (Select 57369) - SNP

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Select item 14913682471.

rs1491368247 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 15:34751955 (GRCh38)
15:35044156 (GRCh37)
Canonical SPDI:: NC_000015.10:34751954:GA:
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.04502/534 (ALFA)
-=0.03274/793 (TOMMO)
-=0.04782/1482 (GnomAD)
HGVS:: NC_000015.10:g.34751955_34751956del, NC_000015.9:g.35044156_35044157del, NM_020660.3:c.*522_*523del, XM_017022438.2:c.*522_*523del, XM_017022438.1:c.*522_*523del

Select item 14913527042.

rs1491352704 has merged into rs61551629 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:34751971 (GRCh38)
15:35044172 (GRCh37)
Canonical SPDI:: NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751955:AAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
AAA=0.0006/6 (TOMMO)
HGVS:: NC_000015.10:g.34751971_34751980del, NC_000015.10:g.34751972_34751980del, NC_000015.10:g.34751973_34751980del, NC_000015.10:g.34751974_34751980del, NC_000015.10:g.34751977_34751980del, NC_000015.10:g.34751978_34751980del, NC_000015.10:g.34751979_34751980del, NC_000015.10:g.34751980del, NC_000015.10:g.34751980dup, NC_000015.10:g.34751979_34751980dup, NC_000015.10:g.34751978_34751980dup, NC_000015.10:g.34751977_34751980dup, NC_000015.10:g.34751976_34751980dup, NC_000015.10:g.34751973_34751980dup, NC_000015.10:g.34751970_34751980dup, NC_000015.10:g.34751968_34751980dup, NC_000015.10:g.34751967_34751980dup, NC_000015.10:g.34751965_34751980dup, NC_000015.10:g.34751964_34751980dup, NC_000015.10:g.34751963_34751980dup, NC_000015.10:g.34751962_34751980dup, NC_000015.9:g.35044172_35044181del, NC_000015.9:g.35044173_35044181del, NC_000015.9:g.35044174_35044181del, NC_000015.9:g.35044175_35044181del, NC_000015.9:g.35044178_35044181del, NC_000015.9:g.35044179_35044181del, NC_000015.9:g.35044180_35044181del, NC_000015.9:g.35044181del, NC_000015.9:g.35044181dup, NC_000015.9:g.35044180_35044181dup, NC_000015.9:g.35044179_35044181dup, NC_000015.9:g.35044178_35044181dup, NC_000015.9:g.35044177_35044181dup, NC_000015.9:g.35044174_35044181dup, NC_000015.9:g.35044171_35044181dup, NC_000015.9:g.35044169_35044181dup, NC_000015.9:g.35044168_35044181dup, NC_000015.9:g.35044166_35044181dup, NC_000015.9:g.35044165_35044181dup, NC_000015.9:g.35044164_35044181dup, NC_000015.9:g.35044163_35044181dup, NM_020660.3:c.*513_*522del, NM_020660.3:c.*514_*522del, NM_020660.3:c.*515_*522del, NM_020660.3:c.*516_*522del, NM_020660.3:c.*519_*522del, NM_020660.3:c.*520_*522del, NM_020660.3:c.*521_*522del, NM_020660.3:c.*522del, NM_020660.3:c.*522dup, NM_020660.3:c.*521_*522dup, NM_020660.3:c.*520_*522dup, NM_020660.3:c.*519_*522dup, NM_020660.3:c.*518_*522dup, NM_020660.3:c.*515_*522dup, NM_020660.3:c.*512_*522dup, NM_020660.3:c.*510_*522dup, NM_020660.3:c.*509_*522dup, NM_020660.3:c.*507_*522dup, NM_020660.3:c.*506_*522dup, NM_020660.3:c.*505_*522dup, NM_020660.3:c.*504_*522dup, XM_017022438.2:c.*513_*522del, XM_017022438.2:c.*514_*522del, XM_017022438.2:c.*515_*522del, XM_017022438.2:c.*516_*522del, XM_017022438.2:c.*519_*522del, XM_017022438.2:c.*520_*522del, XM_017022438.2:c.*521_*522del, XM_017022438.2:c.*522del, XM_017022438.2:c.*522dup, XM_017022438.2:c.*521_*522dup, XM_017022438.2:c.*520_*522dup, XM_017022438.2:c.*519_*522dup, XM_017022438.2:c.*518_*522dup, XM_017022438.2:c.*515_*522dup, XM_017022438.2:c.*512_*522dup, XM_017022438.2:c.*510_*522dup, XM_017022438.2:c.*509_*522dup, XM_017022438.2:c.*507_*522dup, XM_017022438.2:c.*506_*522dup, XM_017022438.2:c.*505_*522dup, XM_017022438.2:c.*504_*522dup, XM_017022438.1:c.*513_*522del, XM_017022438.1:c.*514_*522del, XM_017022438.1:c.*515_*522del, XM_017022438.1:c.*516_*522del, XM_017022438.1:c.*519_*522del, XM_017022438.1:c.*520_*522del, XM_017022438.1:c.*521_*522del, XM_017022438.1:c.*522del, XM_017022438.1:c.*522dup, XM_017022438.1:c.*521_*522dup, XM_017022438.1:c.*520_*522dup, XM_017022438.1:c.*519_*522dup, XM_017022438.1:c.*518_*522dup, XM_017022438.1:c.*515_*522dup, XM_017022438.1:c.*512_*522dup, XM_017022438.1:c.*510_*522dup, XM_017022438.1:c.*509_*522dup, XM_017022438.1:c.*507_*522dup, XM_017022438.1:c.*506_*522dup, XM_017022438.1:c.*505_*522dup, XM_017022438.1:c.*504_*522dup

Select item 14913361543.

rs1491336154 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAACAAAAAA,AAAAAAAACAAAAAAAAAAAA,AAAAAAAGAA,AAAAAAAGAAA,AAAAAAAGAAAA [Show Flanks]
Chromosome:: 15:34751954 (GRCh38)
15:35044156 (GRCh37)
Canonical SPDI:: NC_000015.10:34751954::A,NC_000015.10:34751954::AA,NC_000015.10:34751954::AAA,NC_000015.10:34751954::AAAA,NC_000015.10:34751954::AAAAA,NC_000015.10:34751954::AAAAAA,NC_000015.10:34751954::AAAAAAA,NC_000015.10:34751954::AAAAAAAA,NC_000015.10:34751954::AAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAAAAAAAAAAAAAACAAAAAA,NC_000015.10:34751954::AAAAAAAACAAAAAAAAAAAA,NC_000015.10:34751954::AAAAAAAGAA,NC_000015.10:34751954::AAAAAAAGAAA,NC_000015.10:34751954::AAAAAAAGAAAA
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
AAAAAAAAAAAAAAAAAAAA=0.038462/5 (NorthernSweden)
HGVS:: NC_000015.10:g.34751954_34751955insA, NC_000015.10:g.34751954_34751955insAA, NC_000015.10:g.34751954_34751955insAAA, NC_000015.10:g.34751954_34751955insAAAA, NC_000015.10:g.34751954_34751955insAAAAA, NC_000015.10:g.34751954_34751955insAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAAAAAAAAAAAAAACAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAACAAAAAAAAAAAA, NC_000015.10:g.34751954_34751955insAAAAAAAGAA, NC_000015.10:g.34751954_34751955insAAAAAAAGAAA, NC_000015.10:g.34751954_34751955insAAAAAAAGAAAA, NC_000015.9:g.35044155_35044156insA, NC_000015.9:g.35044155_35044156insAA, NC_000015.9:g.35044155_35044156insAAA, NC_000015.9:g.35044155_35044156insAAAA, NC_000015.9:g.35044155_35044156insAAAAA, NC_000015.9:g.35044155_35044156insAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAAAAAAAAAAAAAACAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAACAAAAAAAAAAAA, NC_000015.9:g.35044155_35044156insAAAAAAAGAA, NC_000015.9:g.35044155_35044156insAAAAAAAGAAA, NC_000015.9:g.35044155_35044156insAAAAAAAGAAAA, NM_020660.3:c.*523_*524insT, NM_020660.3:c.*523_*524insTT, NM_020660.3:c.*523_*524insTTT, NM_020660.3:c.*523_*524insTTTT, NM_020660.3:c.*523_*524insTTTTT, NM_020660.3:c.*523_*524insTTTTTT, NM_020660.3:c.*523_*524insTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTGTTTTTTTTTTTTTTTTTTTT, NM_020660.3:c.*523_*524insTTTTTTTTTTTTGTTTTTTTT, NM_020660.3:c.*523_*524insTTCTTTTTTT, NM_020660.3:c.*523_*524insTTTCTTTTTTT, NM_020660.3:c.*523_*524insTTTTCTTTTTTT, XM_017022438.2:c.*523_*524insT, XM_017022438.2:c.*523_*524insTT, XM_017022438.2:c.*523_*524insTTT, XM_017022438.2:c.*523_*524insTTTT, XM_017022438.2:c.*523_*524insTTTTT, XM_017022438.2:c.*523_*524insTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTGTTTTTTTTTTTTTTTTTTTT, XM_017022438.2:c.*523_*524insTTTTTTTTTTTTGTTTTTTTT, XM_017022438.2:c.*523_*524insTTCTTTTTTT, XM_017022438.2:c.*523_*524insTTTCTTTTTTT, XM_017022438.2:c.*523_*524insTTTTCTTTTTTT, XM_017022438.1:c.*523_*524insT, XM_017022438.1:c.*523_*524insTT, XM_017022438.1:c.*523_*524insTTT, XM_017022438.1:c.*523_*524insTTTT, XM_017022438.1:c.*523_*524insTTTTT, XM_017022438.1:c.*523_*524insTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTGTTTTTTTTTTTTTTTTTTTT, XM_017022438.1:c.*523_*524insTTTTTTTTTTTTGTTTTTTTT, XM_017022438.1:c.*523_*524insTTCTTTTTTT, XM_017022438.1:c.*523_*524insTTTCTTTTTTT, XM_017022438.1:c.*523_*524insTTTTCTTTTTTT

Select item 14912138964.

rs1491213896 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 15:34751954 (GRCh38)
15:35044155 (GRCh37)
Canonical SPDI:: NC_000015.10:34751953:GG:
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/3 (GnomAD)
-=0.00037/9 (TOMMO)
HGVS:: NC_000015.10:g.34751954_34751955del, NC_000015.9:g.35044155_35044156del, NM_020660.3:c.*523_*524del, XM_017022438.2:c.*523_*524del, XM_017022438.1:c.*523_*524del

Select item 14907530145.

rs1490753014 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34753002 (GRCh38)
15:35045203 (GRCh37)
Canonical SPDI:: NC_000015.10:34753001:C:T
Gene:: GJD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34753002C>T, NC_000015.9:g.35045203C>T, NM_020660.3:c.442G>A, NM_020660.2:c.442G>A, XM_017022438.2:c.289G>A, XM_017022438.1:c.289G>A, NP_065711.1:p.Ala148Thr, XP_016877927.1:p.Ala97Thr

Select item 14904992386.

rs1490499238 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34753597 (GRCh38)
15:35045798 (GRCh37)
Canonical SPDI:: NC_000015.10:34753596:C:T
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_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_000015.10:g.34753597C>T, NC_000015.9:g.35045798C>T

Select item 14904730887.

rs1490473088 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34752264 (GRCh38)
15:35044465 (GRCh37)
Canonical SPDI:: NC_000015.10:34752263:C:T
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.34752264C>T, NC_000015.9:g.35044465C>T, NM_020660.3:c.*214G>A, XM_017022438.2:c.*214G>A, XM_017022438.1:c.*214G>A

Select item 14894985548.

rs1489498554 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34755682 (GRCh38)
15:35047883 (GRCh37)
Canonical SPDI:: NC_000015.10:34755681:C:G
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000015.10:g.34755682C>G, NC_000015.9:g.35047883C>G

Select item 14887819829.

rs1488781982 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:34755380 (GRCh38)
15:35047581 (GRCh37)
Canonical SPDI:: NC_000015.10:34755379:C:A
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34755380C>A, NC_000015.9:g.35047581C>A

Select item 148833643510.

rs1488336435 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:34753083 (GRCh38)
15:35045284 (GRCh37)
Canonical SPDI:: NC_000015.10:34753082:G:A
Gene:: GJD2 (Varview), GJD2-DT (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=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34753083G>A, NC_000015.9:g.35045284G>A, NM_020660.3:c.361C>T, NM_020660.2:c.361C>T, XM_017022438.2:c.208C>T, XM_017022438.1:c.208C>T, NP_065711.1:p.Pro121Ser, XP_016877927.1:p.Pro70Ser

Select item 148786503611.

rs1487865036 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 15:34755272 (GRCh38)
15:35047473 (GRCh37)
Canonical SPDI:: NC_000015.10:34755271:C:G
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000015.10:g.34755272C>G, NC_000015.9:g.35047473C>G

Select item 148749487812.

rs1487494878 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:34752695 (GRCh38)
15:35044896 (GRCh37)
Canonical SPDI:: NC_000015.10:34752694:T:G
Gene:: GJD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000028/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34752695T>G, NC_000015.9:g.35044896T>G, NM_020660.3:c.749A>C, NM_020660.2:c.749A>C, XM_017022438.2:c.596A>C, XM_017022438.1:c.596A>C, NP_065711.1:p.Lys250Thr, XP_016877927.1:p.Lys199Thr

Select item 148735046213.

rs1487350462 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 15:34754436 (GRCh38)
15:35046637 (GRCh37)
Canonical SPDI:: NC_000015.10:34754434:GTG:G
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,intron_variant,2KB_upstream_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.34754436_34754437del, NC_000015.9:g.35046637_35046638del, NM_020660.3:c.53_54del, NM_020660.2:c.53_54del, NP_065711.1:p.His18fs

Select item 148728240814.

rs1487282408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 15:34751943 (GRCh38)
15:35044144 (GRCh37)
Canonical SPDI:: NC_000015.10:34751942:G:T
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00007/4 (GnomAD)
HGVS:: NC_000015.10:g.34751943G>T, NC_000015.9:g.35044144G>T, NM_020660.3:c.*535C>A, XM_017022438.2:c.*535C>A, XM_017022438.1:c.*535C>A

Select item 148715007115.

rs1487150071 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:34754293 (GRCh38)
15:35046494 (GRCh37)
Canonical SPDI:: NC_000015.10:34754292:T:C
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34754293T>C, NC_000015.9:g.35046494T>C

Select item 148443675116.

rs1484436751 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:34752007 (GRCh38)
15:35044208 (GRCh37)
Canonical SPDI:: NC_000015.10:34752006:A:G
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/1 (GnomAD)
HGVS:: NC_000015.10:g.34752007A>G, NC_000015.9:g.35044208A>G, NM_020660.3:c.*471T>C, XM_017022438.2:c.*471T>C, XM_017022438.1:c.*471T>C

Select item 148402353317.

rs1484023533 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 15:34752403 (GRCh38)
15:35044604 (GRCh37)
Canonical SPDI:: NC_000015.10:34752402:G:A,NC_000015.10:34752402:G:C
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.34752403G>A, NC_000015.10:g.34752403G>C, NC_000015.9:g.35044604G>A, NC_000015.9:g.35044604G>C, NM_020660.3:c.*75C>T, NM_020660.3:c.*75C>G, XM_017022438.2:c.*75C>T, XM_017022438.2:c.*75C>G, XM_017022438.1:c.*75C>T, XM_017022438.1:c.*75C>G

Select item 148369479518.

rs1483694795 [Homo sapiens]

Variant type:: DEL
Alleles:: GAAAAAAAAAAAA>- [Show Flanks]
Chromosome:: 15:34751955 (GRCh38)
15:35044156 (GRCh37)
Canonical SPDI:: NC_000015.10:34751954:GAAAAAAAAAAAA:
Gene:: GJD2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00029/9 (GnomAD)
HGVS:: NC_000015.10:g.34751955_34751967del, NC_000015.9:g.35044156_35044168del, NM_020660.3:c.*511_*523del, XM_017022438.2:c.*511_*523del, XM_017022438.1:c.*511_*523del

Select item 148116192019.

rs1481161920 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:34753124 (GRCh38)
15:35045325 (GRCh37)
Canonical SPDI:: NC_000015.10:34753123:C:T
Gene:: GJD2 (Varview), GJD2-DT (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.34753124C>T, NC_000015.9:g.35045325C>T, NM_020660.3:c.320G>A, NM_020660.2:c.320G>A, XM_017022438.2:c.167G>A, XM_017022438.1:c.167G>A, NP_065711.1:p.Arg107His, XP_016877927.1:p.Arg56His

Select item 148087400920.

rs1480874009 [Homo sapiens]

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

dbSNP

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