SNP Links for Gene (Select 846) - SNP

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Select item 14915253131.

rs1491525313 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:122252398 (GRCh38)
3:121971245 (GRCh37)
Canonical SPDI:: NC_000003.12:122252397:GG:
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00015/3 (TOMMO)
-=0.00383/54 (GnomAD)
HGVS:: NC_000003.12:g.122252398_122252399del, NC_000003.11:g.121971245_121971246del, NG_009058.2:g.73731_73732del

Select item 14914678332.

rs1491467833 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA,GGAAGGAA [Show Flanks]
Chromosome:: 3:122252354 (GRCh38)
3:121971202 (GRCh37)
Canonical SPDI:: NC_000003.12:122252354:GAA:GAAGGAA,NC_000003.12:122252354:GAA:GAAGGAAGGAA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAGGAA=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.122252357_122252358insGGAA, NC_000003.12:g.122252357_122252358insGGAAGGAA, NC_000003.11:g.121971204_121971205insGGAA, NC_000003.11:g.121971204_121971205insGGAAGGAA, NG_009058.2:g.73690_73691insGGAA, NG_009058.2:g.73690_73691insGGAAGGAA

Select item 14914181813.

rs1491418181 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:122260704 (GRCh38)
3:121979552 (GRCh37)
Canonical SPDI:: NC_000003.12:122260704::T
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.122260704_122260705insT, NC_000003.11:g.121979551_121979552insT, NG_009058.2:g.82037_82038insT

Select item 14913667774.

rs1491366777 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:122252406 (GRCh38)
3:121971253 (GRCh37)
Canonical SPDI:: NC_000003.12:122252405:GG:
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00082/12 (TOMMO)
-=0.00316/5 (Korea1K)
-=0.00617/54 (GnomAD)
HGVS:: NC_000003.12:g.122252406_122252407del, NC_000003.11:g.121971253_121971254del, NG_009058.2:g.73739_73740del

Select item 14913177985.

rs1491317798 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:122237112 (GRCh38)
3:121955959 (GRCh37)
Canonical SPDI:: NC_000003.12:122237111:CT:
Gene:: CASR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.122237112_122237113del, NC_000003.11:g.121955959_121955960del, NG_009058.2:g.58445_58446del

Select item 14912945186.

rs1491294518 has merged into rs1482870663 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA [Show Flanks]
Chromosome:: 3:122252355 (GRCh38)
3:121971202 (GRCh37)
Canonical SPDI:: NC_000003.12:122252353:AGA:A,NC_000003.12:122252353:AGA:AGAGA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.00009/5 (GnomAD)
HGVS:: NC_000003.12:g.122252355_122252356del, NC_000003.12:g.122252355_122252356dup, NC_000003.11:g.121971202_121971203del, NC_000003.11:g.121971202_121971203dup, NG_009058.2:g.73688_73689del, NG_009058.2:g.73688_73689dup

Select item 14912935547.

rs1491293554 has merged into rs35390174 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAT [Show Flanks]
Chromosome:: 3:122198851 (GRCh38)
3:121917698 (GRCh37)
Canonical SPDI:: NC_000003.12:122198840:ATATATATATATAT:ATATATATAT,NC_000003.12:122198840:ATATATATATATAT:ATATATATATAT,NC_000003.12:122198840:ATATATATATATAT:ATATATATATATATAT,NC_000003.12:122198840:ATATATATATATAT:ATATATATATATATATAT,NC_000003.12:122198840:ATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:122198840:ATATATATATATAT:ATATATATATATATATATATAT
Gene:: CASR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
AT=0.01415/3 (Vietnamese)
AT=0.145/87 (NorthernSweden)
AT=0.175/7 (GENOME_DK)
HGVS:: NC_000003.12:g.122198841AT[5], NC_000003.12:g.122198841AT[6], NC_000003.12:g.122198841AT[8], NC_000003.12:g.122198841AT[9], NC_000003.12:g.122198841AT[10], NC_000003.12:g.122198841AT[11], NC_000003.11:g.121917688AT[5], NC_000003.11:g.121917688AT[6], NC_000003.11:g.121917688AT[8], NC_000003.11:g.121917688AT[9], NC_000003.11:g.121917688AT[10], NC_000003.11:g.121917688AT[11], NG_009058.2:g.20174AT[5], NG_009058.2:g.20174AT[6], NG_009058.2:g.20174AT[8], NG_009058.2:g.20174AT[9], NG_009058.2:g.20174AT[10], NG_009058.2:g.20174AT[11]

Select item 14912421508.

rs1491242150 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA,AAAAA,AAAGAAA [Show Flanks]
Chromosome:: 3:122252406 (GRCh38)
3:121971254 (GRCh37)
Canonical SPDI:: NC_000003.12:122252406::A,NC_000003.12:122252406::AA,NC_000003.12:122252406::AAA,NC_000003.12:122252406::AAAAA,NC_000003.12:122252406::AAAGAAA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAA=0.0431/205 (GnomAD)
HGVS:: NC_000003.12:g.122252406_122252407insA, NC_000003.12:g.122252406_122252407insAA, NC_000003.12:g.122252406_122252407insAAA, NC_000003.12:g.122252406_122252407insAAAAA, NC_000003.12:g.122252406_122252407insAAAGAAA, NC_000003.11:g.121971253_121971254insA, NC_000003.11:g.121971253_121971254insAA, NC_000003.11:g.121971253_121971254insAAA, NC_000003.11:g.121971253_121971254insAAAAA, NC_000003.11:g.121971253_121971254insAAAGAAA, NG_009058.2:g.73739_73740insA, NG_009058.2:g.73739_73740insAA, NG_009058.2:g.73739_73740insAAA, NG_009058.2:g.73739_73740insAAAAA, NG_009058.2:g.73739_73740insAAAGAAA

Select item 14912386479.

rs1491238647 has merged into rs932297836 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 3:122281893 (GRCh38)
3:122000740 (GRCh37)
Canonical SPDI:: NC_000003.12:122281880:TGTGTGTGTGTGTGTG:TGTGTGTGTGTG,NC_000003.12:122281880:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTG,NC_000003.12:122281880:TGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000003.12:g.122281881TG[6], NC_000003.12:g.122281881TG[7], NC_000003.12:g.122281881TG[9], NC_000003.11:g.122000728TG[6], NC_000003.11:g.122000728TG[7], NC_000003.11:g.122000728TG[9], NG_009058.2:g.103214TG[6], NG_009058.2:g.103214TG[7], NG_009058.2:g.103214TG[9]

Select item 149122021910.

rs1491220219 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 3:122252349 (GRCh38)
3:121971196 (GRCh37)
Canonical SPDI:: NC_000003.12:122252347:AAA:A
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.122252349_122252350del, NC_000003.11:g.121971196_121971197del, NG_009058.2:g.73682_73683del

Select item 149120804011.

rs1491208040 has merged into rs59408184 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:122237123 (GRCh38)
3:121955970 (GRCh37)
Canonical SPDI:: NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:122237112:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: CASR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.1625/814 (1000Genomes)
-=0.2203/849 (ALSPAC)
HGVS:: NC_000003.12:g.122237123_122237130del, NC_000003.12:g.122237125_122237130del, NC_000003.12:g.122237126_122237130del, NC_000003.12:g.122237127_122237130del, NC_000003.12:g.122237128_122237130del, NC_000003.12:g.122237129_122237130del, NC_000003.12:g.122237130del, NC_000003.12:g.122237130dup, NC_000003.12:g.122237129_122237130dup, NC_000003.12:g.122237127_122237130dup, NC_000003.11:g.121955970_121955977del, NC_000003.11:g.121955972_121955977del, NC_000003.11:g.121955973_121955977del, NC_000003.11:g.121955974_121955977del, NC_000003.11:g.121955975_121955977del, NC_000003.11:g.121955976_121955977del, NC_000003.11:g.121955977del, NC_000003.11:g.121955977dup, NC_000003.11:g.121955976_121955977dup, NC_000003.11:g.121955974_121955977dup, NG_009058.2:g.58456_58463del, NG_009058.2:g.58458_58463del, NG_009058.2:g.58459_58463del, NG_009058.2:g.58460_58463del, NG_009058.2:g.58461_58463del, NG_009058.2:g.58462_58463del, NG_009058.2:g.58463del, NG_009058.2:g.58463dup, NG_009058.2:g.58462_58463dup, NG_009058.2:g.58460_58463dup

Select item 149118012612.

rs1491180126 [Homo sapiens]

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

Select item 149117963013.

rs1491179630 has merged into rs33940289 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:122225565 (GRCh38)
3:121944412 (GRCh37)
Canonical SPDI:: NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:122225554:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CASR (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.2003/1003 (1000Genomes)
HGVS:: NC_000003.12:g.122225565_122225573del, NC_000003.12:g.122225569_122225573del, NC_000003.12:g.122225570_122225573del, NC_000003.12:g.122225571_122225573del, NC_000003.12:g.122225572_122225573del, NC_000003.12:g.122225573del, NC_000003.12:g.122225573dup, NC_000003.12:g.122225572_122225573dup, NC_000003.12:g.122225566_122225573dup, NC_000003.12:g.122225563_122225573dup, NC_000003.11:g.121944412_121944420del, NC_000003.11:g.121944416_121944420del, NC_000003.11:g.121944417_121944420del, NC_000003.11:g.121944418_121944420del, NC_000003.11:g.121944419_121944420del, NC_000003.11:g.121944420del, NC_000003.11:g.121944420dup, NC_000003.11:g.121944419_121944420dup, NC_000003.11:g.121944413_121944420dup, NC_000003.11:g.121944410_121944420dup, NG_009058.2:g.46898_46906del, NG_009058.2:g.46902_46906del, NG_009058.2:g.46903_46906del, NG_009058.2:g.46904_46906del, NG_009058.2:g.46905_46906del, NG_009058.2:g.46906del, NG_009058.2:g.46906dup, NG_009058.2:g.46905_46906dup, NG_009058.2:g.46899_46906dup, NG_009058.2:g.46896_46906dup

Select item 149112889614.

rs1491128896 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA,AGA [Show Flanks]
Chromosome:: 3:122252398 (GRCh38)
3:121971246 (GRCh37)
Canonical SPDI:: NC_000003.12:122252398::A,NC_000003.12:122252398::AAA,NC_000003.12:122252398::AGA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
AAA=0.00581/91 (TOMMO)
HGVS:: NC_000003.12:g.122252398_122252399insA, NC_000003.12:g.122252398_122252399insAAA, NC_000003.12:g.122252398_122252399insAGA, NC_000003.11:g.121971245_121971246insA, NC_000003.11:g.121971245_121971246insAAA, NC_000003.11:g.121971245_121971246insAGA, NG_009058.2:g.73731_73732insA, NG_009058.2:g.73731_73732insAAA, NG_009058.2:g.73731_73732insAGA

Select item 149112022915.

rs1491120229 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AAA [Show Flanks]
Chromosome:: 3:122252394 (GRCh38)
3:121971242 (GRCh37)
Canonical SPDI:: NC_000003.12:122252394::A,NC_000003.12:122252394::AAA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
AAA=0.00061/10 (TOMMO)
AAA=0.00673/3 (NorthernSweden)
AAA=0.00679/36 (GnomAD)
HGVS:: NC_000003.12:g.122252394_122252395insA, NC_000003.12:g.122252394_122252395insAAA, NC_000003.11:g.121971241_121971242insA, NC_000003.11:g.121971241_121971242insAAA, NG_009058.2:g.73727_73728insA, NG_009058.2:g.73727_73728insAAA

Select item 149111596316.

rs1491115963 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 3:122252394 (GRCh38)
3:121971241 (GRCh37)
Canonical SPDI:: NC_000003.12:122252393:GG:
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000003.12:g.122252394_122252395del, NC_000003.11:g.121971241_121971242del, NG_009058.2:g.73727_73728del

Select item 149110393817.

rs1491103938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAAGAA [Show Flanks]
Chromosome:: 3:122252402 (GRCh38)
3:121971250 (GRCh37)
Canonical SPDI:: NC_000003.12:122252402:GAA:GAAAAAGAA
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GAAAAAGAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.122252405_122252406insAAAGAA, NC_000003.11:g.121971252_121971253insAAAGAA, NG_009058.2:g.73738_73739insAAAGAA

Select item 149106587118.

rs1491065871 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 3:122183139 (GRCh38)
3:121901986 (GRCh37)
Canonical SPDI:: NC_000003.12:122183138:GC:
Gene:: CASR (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.0669/299 (ALFA)
HGVS:: NC_000003.12:g.122183139_122183140del, NC_000003.11:g.121901986_121901987del, NG_009058.2:g.4472_4473del

Select item 149102377819.

rs1491023778 has merged into rs11414721 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:122259643 (GRCh38)
3:121978490 (GRCh37)
Canonical SPDI:: NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:122259628:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CASR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.3898/1952 (1000Genomes)
HGVS:: NC_000003.12:g.122259643_122259647del, NC_000003.12:g.122259645_122259647del, NC_000003.12:g.122259646_122259647del, NC_000003.12:g.122259647del, NC_000003.12:g.122259647dup, NC_000003.12:g.122259646_122259647dup, NC_000003.12:g.122259645_122259647dup, NC_000003.12:g.122259644_122259647dup, NC_000003.12:g.122259643_122259647dup, NC_000003.12:g.122259642_122259647dup, NC_000003.12:g.122259641_122259647dup, NC_000003.12:g.122259640_122259647dup, NC_000003.12:g.122259639_122259647dup, NC_000003.12:g.122259638_122259647dup, NC_000003.12:g.122259637_122259647dup, NC_000003.12:g.122259636_122259647dup, NC_000003.12:g.122259633_122259647dup, NC_000003.12:g.122259629_122259647dup, NC_000003.12:g.122259647_122259648insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.121978490_121978494del, NC_000003.11:g.121978492_121978494del, NC_000003.11:g.121978493_121978494del, NC_000003.11:g.121978494del, NC_000003.11:g.121978494dup, NC_000003.11:g.121978493_121978494dup, NC_000003.11:g.121978492_121978494dup, NC_000003.11:g.121978491_121978494dup, NC_000003.11:g.121978490_121978494dup, NC_000003.11:g.121978489_121978494dup, NC_000003.11:g.121978488_121978494dup, NC_000003.11:g.121978487_121978494dup, NC_000003.11:g.121978486_121978494dup, NC_000003.11:g.121978485_121978494dup, NC_000003.11:g.121978484_121978494dup, NC_000003.11:g.121978483_121978494dup, NC_000003.11:g.121978480_121978494dup, NC_000003.11:g.121978476_121978494dup, NC_000003.11:g.121978494_121978495insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_009058.2:g.80976_80980del, NG_009058.2:g.80978_80980del, NG_009058.2:g.80979_80980del, NG_009058.2:g.80980del, NG_009058.2:g.80980dup, NG_009058.2:g.80979_80980dup, NG_009058.2:g.80978_80980dup, NG_009058.2:g.80977_80980dup, NG_009058.2:g.80976_80980dup, NG_009058.2:g.80975_80980dup, NG_009058.2:g.80974_80980dup, NG_009058.2:g.80973_80980dup, NG_009058.2:g.80972_80980dup, NG_009058.2:g.80971_80980dup, NG_009058.2:g.80970_80980dup, NG_009058.2:g.80969_80980dup, NG_009058.2:g.80966_80980dup, NG_009058.2:g.80962_80980dup, NG_009058.2:g.80980_80981insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149096707520.

rs1490967075 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:122240439 (GRCh38)
3:121959286 (GRCh37)
Canonical SPDI:: NC_000003.12:122240438:G:A
Gene:: CASR (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.122240439G>A, NC_000003.11:g.121959286G>A, NG_009058.2:g.61772G>A

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