SNP Links for Gene (Select 283229) - SNP

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Select item 14909664481.

rs1490966448 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCTCTCAC>- [Show Flanks]
Chromosome:: 11:827663 (GRCh38)
11:827663 (GRCh37)
Canonical SPDI:: NC_000011.10:827661:CTTCTCTCAC:C
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.827663_827671del, NC_000011.9:g.827663_827671del, NM_173584.3:c.-427_-419del, XM_017017599.2:c.-397_-389del, XM_017017599.1:c.-397_-389del

Select item 14909399352.

rs1490939935 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:826969 (GRCh38)
11:826969 (GRCh37)
Canonical SPDI:: NC_000011.10:826968:G:A
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.826969G>A, NC_000011.9:g.826969G>A, NG_023394.1:g.13069G>A, XM_017017586.2:c.-726G>A, XM_017017593.2:c.-698G>A

Select item 14908005833.

rs1490800583 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:828842 (GRCh38)
11:828842 (GRCh37)
Canonical SPDI:: NC_000011.10:828841:C:A
Gene:: CRACR2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.828842C>A, NC_000011.9:g.828842C>A, NG_007478.1:g.891C>A

Select item 14903102424.

rs1490310242 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:829063 (GRCh38)
11:829063 (GRCh37)
Canonical SPDI:: NC_000011.10:829062:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.829063C>T, NC_000011.9:g.829063C>T, NG_007478.1:g.1112C>T, XM_017017586.2:c.349C>T, XM_017017586.1:c.349C>T, XM_017017589.2:c.349C>T, XM_017017589.1:c.349C>T, XM_017017584.2:c.349C>T, XM_017017584.1:c.349C>T, XM_017017585.2:c.349C>T, XM_017017585.1:c.349C>T, XM_017017597.2:c.349C>T, XM_017017597.1:c.349C>T, XM_017017582.2:c.349C>T, XM_017017582.1:c.349C>T, XM_017017583.2:c.349C>T, XM_017017583.1:c.349C>T, XM_011520011.2:c.349C>T, XM_011520011.1:c.349C>T, XM_011520019.2:c.349C>T, XM_011520019.1:c.349C>T, XM_017017588.2:c.349C>T, XM_017017588.1:c.349C>T, XM_017017587.2:c.349C>T, XM_017017587.1:c.349C>T, XM_017017598.2:c.349C>T, XM_017017598.1:c.349C>T, XM_047426807.1:c.349C>T, XM_047426813.1:c.349C>T, XM_047426806.1:c.349C>T, XM_047426808.1:c.349C>T, XM_047426809.1:c.349C>T, XM_047426810.1:c.349C>T, XM_047426811.1:c.349C>T, XM_047426812.1:c.349C>T, XP_016873075.1:p.Pro117Ser, XP_016873078.1:p.Pro117Ser, XP_016873073.1:p.Pro117Ser, XP_016873074.1:p.Pro117Ser, XP_016873086.1:p.Pro117Ser, XP_016873071.1:p.Pro117Ser, XP_016873072.1:p.Pro117Ser, XP_011518313.1:p.Pro117Ser, XP_011518321.1:p.Pro117Ser, XP_016873077.1:p.Pro117Ser, XP_016873076.1:p.Pro117Ser, XP_016873087.1:p.Pro117Ser, XP_047282763.1:p.Pro117Ser, XP_047282769.1:p.Pro117Ser, XP_047282762.1:p.Pro117Ser, XP_047282764.1:p.Pro117Ser, XP_047282765.1:p.Pro117Ser, XP_047282766.1:p.Pro117Ser, XP_047282767.1:p.Pro117Ser, XP_047282768.1:p.Pro117Ser

Select item 14902864925.

rs1490286492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:827003 (GRCh38)
11:827003 (GRCh37)
Canonical SPDI:: NC_000011.10:827002:C:A,NC_000011.10:827002:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.827003C>A, NC_000011.10:g.827003C>T, NC_000011.9:g.827003C>A, NC_000011.9:g.827003C>T, NG_023394.1:g.13103C>A, NG_023394.1:g.13103C>T, XM_017017586.2:c.-692C>A, XM_017017586.2:c.-692C>T, XM_017017593.2:c.-664C>A, XM_017017593.2:c.-664C>T

Select item 14897953966.

rs1489795396 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:826197 (GRCh38)
11:826197 (GRCh37)
Canonical SPDI:: NC_000011.10:826196:C:A,NC_000011.10:826196:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000011.10:g.826197C>A, NC_000011.10:g.826197C>T, NC_000011.9:g.826197C>A, NC_000011.9:g.826197C>T, NG_023394.1:g.12297C>A, NG_023394.1:g.12297C>T, XM_017017582.2:c.-476C>A, XM_017017582.2:c.-476C>T, XM_017017582.1:c.-476C>A, XM_017017582.1:c.-476C>T, XM_017017583.2:c.-446C>A, XM_017017583.2:c.-446C>T, XM_017017583.1:c.-446C>A, XM_017017583.1:c.-446C>T, XM_017017590.2:c.-448C>A, XM_017017590.2:c.-448C>T, XM_017017590.1:c.-448C>A, XM_017017590.1:c.-448C>T, XM_017017591.2:c.-418C>A, XM_017017591.2:c.-418C>T, XM_017017591.1:c.-418C>A, XM_017017591.1:c.-418C>T, XM_017017587.2:c.-131C>A, XM_017017587.2:c.-131C>T, XM_017017587.1:c.-131C>A, XM_017017587.1:c.-131C>T, XM_017017594.2:c.-103C>A, XM_017017594.2:c.-103C>T, XM_017017594.1:c.-103C>A, XM_017017594.1:c.-103C>T, XM_047426806.1:c.-476C>A, XM_047426806.1:c.-476C>T, XM_047426814.1:c.-448C>A, XM_047426814.1:c.-448C>T, XM_047426818.1:c.-103C>A, XM_047426818.1:c.-103C>T

Select item 14891430917.

rs1489143091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:832131 (GRCh38)
11:832131 (GRCh37)
Canonical SPDI:: NC_000011.10:832130:C:T
Gene:: CD151 (Varview), CRACR2B (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.832131C>T, NC_000011.9:g.832131C>T, NG_007478.1:g.4180C>T

Select item 14889017818.

rs1488901781 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:830032 (GRCh38)
11:830032 (GRCh37)
Canonical SPDI:: NC_000011.10:830031:C:A,NC_000011.10:830031:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.830032C>A, NC_000011.10:g.830032C>T, NC_000011.9:g.830032C>A, NC_000011.9:g.830032C>T, NG_007478.1:g.2081C>A, NG_007478.1:g.2081C>T, NM_173584.4:c.505C>A, NM_173584.4:c.505C>T, NM_173584.3:c.505C>A, NM_173584.3:c.505C>T, XM_017017586.2:c.715C>A, XM_017017586.2:c.715C>T, XM_017017586.1:c.715C>A, XM_017017586.1:c.715C>T, XM_017017593.2:c.523C>A, XM_017017593.2:c.523C>T, XM_017017593.1:c.523C>A, XM_017017593.1:c.523C>T, XM_017017589.2:c.697C>A, XM_017017589.2:c.697C>T, XM_017017589.1:c.697C>A, XM_017017589.1:c.697C>T, XM_017017584.2:c.715C>A, XM_017017584.2:c.715C>T, XM_017017584.1:c.715C>A, XM_017017584.1:c.715C>T, XM_017017585.2:c.715C>A, XM_017017585.2:c.715C>T, XM_017017585.1:c.715C>A, XM_017017585.1:c.715C>T, XM_017017597.2:c.715C>A, XM_017017597.2:c.715C>T, XM_017017597.1:c.715C>A, XM_017017597.1:c.715C>T, XM_017017582.2:c.715C>A, XM_017017582.2:c.715C>T, XM_017017582.1:c.715C>A, XM_017017582.1:c.715C>T, XM_017017583.2:c.715C>A, XM_017017583.2:c.715C>T, XM_017017583.1:c.715C>A, XM_017017583.1:c.715C>T, XM_011520011.2:c.715C>A, XM_011520011.2:c.715C>T, XM_011520011.1:c.715C>A, XM_011520011.1:c.715C>T, XM_017017592.2:c.523C>A, XM_017017592.2:c.523C>T, XM_017017592.1:c.523C>A, XM_017017592.1:c.523C>T, XM_017017590.2:c.523C>A, XM_017017590.2:c.523C>T, XM_017017590.1:c.523C>A, XM_017017590.1:c.523C>T, XM_017017591.2:c.523C>A, XM_017017591.2:c.523C>T, XM_017017591.1:c.523C>A, XM_017017591.1:c.523C>T, XM_011520019.2:c.715C>A, XM_011520019.2:c.715C>T, XM_011520019.1:c.715C>A, XM_011520019.1:c.715C>T, XM_017017588.2:c.715C>A, XM_017017588.2:c.715C>T, XM_017017588.1:c.715C>A, XM_017017588.1:c.715C>T, XM_017017587.2:c.715C>A, XM_017017587.2:c.715C>T, XM_017017587.1:c.715C>A, XM_017017587.1:c.715C>T, XM_017017598.2:c.715C>A, XM_017017598.2:c.715C>T, XM_017017598.1:c.715C>A, XM_017017598.1:c.715C>T, XM_017017595.2:c.523C>A, XM_017017595.2:c.523C>T, XM_017017595.1:c.523C>A, XM_017017595.1:c.523C>T, NM_001286606.2:c.505C>A, NM_001286606.2:c.505C>T, NM_001286606.1:c.505C>A, NM_001286606.1:c.505C>T, XM_017017594.2:c.523C>A, XM_017017594.2:c.523C>T, XM_017017594.1:c.523C>A, XM_017017594.1:c.523C>T, XM_017017599.2:c.505C>A, XM_017017599.2:c.505C>T, XM_017017599.1:c.505C>A, XM_017017599.1:c.505C>T, XM_047426807.1:c.697C>A, XM_047426807.1:c.697C>T, XM_047426813.1:c.715C>A, XM_047426813.1:c.715C>T, XM_047426804.1:c.505C>A, XM_047426804.1:c.505C>T, XM_047426806.1:c.697C>A, XM_047426806.1:c.697C>T, XM_047426805.1:c.505C>A, XM_047426805.1:c.505C>T, XM_047426808.1:c.697C>A, XM_047426808.1:c.697C>T, XM_047426819.1:c.523C>A, XM_047426819.1:c.523C>T, XM_047426816.1:c.505C>A, XM_047426816.1:c.505C>T, XM_047426809.1:c.697C>A, XM_047426809.1:c.697C>T, XM_047426815.1:c.523C>A, XM_047426815.1:c.523C>T, XM_047426817.1:c.505C>A, XM_047426817.1:c.505C>T, XM_047426814.1:c.523C>A, XM_047426814.1:c.523C>T, XM_047426810.1:c.697C>A, XM_047426810.1:c.697C>T, XM_047426820.1:c.505C>A, XM_047426820.1:c.505C>T, XM_047426811.1:c.697C>A, XM_047426811.1:c.697C>T, XM_047426822.1:c.523C>A, XM_047426822.1:c.523C>T, XM_047426821.1:c.505C>A, XM_047426821.1:c.505C>T, XM_047426812.1:c.697C>A, XM_047426812.1:c.697C>T, XM_047426823.1:c.505C>A, XM_047426823.1:c.505C>T, XM_047426824.1:c.505C>A, XM_047426824.1:c.505C>T, XM_047426818.1:c.505C>A, XM_047426818.1:c.505C>T, XM_047426826.1:c.505C>A, XM_047426826.1:c.505C>T, XM_047426825.1:c.505C>A, XM_047426825.1:c.505C>T, NP_775855.3:p.Pro169Thr, NP_775855.3:p.Pro169Ser, XP_016873075.1:p.Pro239Thr, XP_016873075.1:p.Pro239Ser, XP_016873082.1:p.Pro175Thr, XP_016873082.1:p.Pro175Ser, XP_016873078.1:p.Pro233Thr, XP_016873078.1:p.Pro233Ser, XP_016873073.1:p.Pro239Thr, XP_016873073.1:p.Pro239Ser, XP_016873074.1:p.Pro239Thr, XP_016873074.1:p.Pro239Ser, XP_016873086.1:p.Pro239Thr, XP_016873086.1:p.Pro239Ser, XP_016873071.1:p.Pro239Thr, XP_016873071.1:p.Pro239Ser, XP_016873072.1:p.Pro239Thr, XP_016873072.1:p.Pro239Ser, XP_011518313.1:p.Pro239Thr, XP_011518313.1:p.Pro239Ser, XP_016873081.1:p.Pro175Thr, XP_016873081.1:p.Pro175Ser, XP_016873079.1:p.Pro175Thr, XP_016873079.1:p.Pro175Ser, XP_016873080.1:p.Pro175Thr, XP_016873080.1:p.Pro175Ser, XP_011518321.1:p.Pro239Thr, XP_011518321.1:p.Pro239Ser, XP_016873077.1:p.Pro239Thr, XP_016873077.1:p.Pro239Ser, XP_016873076.1:p.Pro239Thr, XP_016873076.1:p.Pro239Ser, XP_016873087.1:p.Pro239Thr, XP_016873087.1:p.Pro239Ser, XP_016873084.1:p.Pro175Thr, XP_016873084.1:p.Pro175Ser, NP_001273535.1:p.Pro169Thr, NP_001273535.1:p.Pro169Ser, XP_016873083.1:p.Pro175Thr, XP_016873083.1:p.Pro175Ser, XP_016873088.1:p.Pro169Thr, XP_016873088.1:p.Pro169Ser, XP_047282763.1:p.Pro233Thr, XP_047282763.1:p.Pro233Ser, XP_047282769.1:p.Pro239Thr, XP_047282769.1:p.Pro239Ser, XP_047282760.1:p.Pro169Thr, XP_047282760.1:p.Pro169Ser, XP_047282762.1:p.Pro233Thr, XP_047282762.1:p.Pro233Ser, XP_047282761.1:p.Pro169Thr, XP_047282761.1:p.Pro169Ser, XP_047282764.1:p.Pro233Thr, XP_047282764.1:p.Pro233Ser, XP_047282775.1:p.Pro175Thr, XP_047282775.1:p.Pro175Ser, XP_047282772.1:p.Pro169Thr, XP_047282772.1:p.Pro169Ser, XP_047282765.1:p.Pro233Thr, XP_047282765.1:p.Pro233Ser, XP_047282771.1:p.Pro175Thr, XP_047282771.1:p.Pro175Ser, XP_047282773.1:p.Pro169Thr, XP_047282773.1:p.Pro169Ser, XP_047282770.1:p.Pro175Thr, XP_047282770.1:p.Pro175Ser, XP_047282766.1:p.Pro233Thr, XP_047282766.1:p.Pro233Ser, XP_047282776.1:p.Pro169Thr, XP_047282776.1:p.Pro169Ser, XP_047282767.1:p.Pro233Thr, XP_047282767.1:p.Pro233Ser, XP_047282778.1:p.Pro175Thr, XP_047282778.1:p.Pro175Ser, XP_047282777.1:p.Pro169Thr, XP_047282777.1:p.Pro169Ser, XP_047282768.1:p.Pro233Thr, XP_047282768.1:p.Pro233Ser, XP_047282779.1:p.Pro169Thr, XP_047282779.1:p.Pro169Ser, XP_047282780.1:p.Pro169Thr, XP_047282780.1:p.Pro169Ser, XP_047282774.1:p.Pro169Thr, XP_047282774.1:p.Pro169Ser, XP_047282782.1:p.Pro169Thr, XP_047282782.1:p.Pro169Ser, XP_047282781.1:p.Pro169Thr, XP_047282781.1:p.Pro169Ser

Select item 14888957959.

rs1488895795 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:826635 (GRCh38)
11:826635 (GRCh37)
Canonical SPDI:: NC_000011.10:826634:T:C
Gene:: CRACR2B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.826635T>C, NC_000011.9:g.826635T>C, NG_023394.1:g.12735T>C

Select item 148884589010.

rs1488845890 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:825798 (GRCh38)
11:825798 (GRCh37)
Canonical SPDI:: NC_000011.10:825797:C:A,NC_000011.10:825797:C:T
Gene:: PNPLA2 (Varview), CRACR2B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.825798C>A, NC_000011.10:g.825798C>T, NC_000011.9:g.825798C>A, NC_000011.9:g.825798C>T, NG_023394.1:g.11898C>A, NG_023394.1:g.11898C>T

Select item 148834092011.

rs1488340920 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:829986 (GRCh38)
11:829986 (GRCh37)
Canonical SPDI:: NC_000011.10:829985:G:A
Gene:: CRACR2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.829986G>A, NC_000011.9:g.829986G>A, NG_007478.1:g.2035G>A, NM_173584.4:c.459G>A, NM_173584.3:c.459G>A, XM_017017586.2:c.669G>A, XM_017017586.1:c.669G>A, XM_017017593.2:c.477G>A, XM_017017593.1:c.477G>A, XM_017017589.2:c.651G>A, XM_017017589.1:c.651G>A, XM_017017584.2:c.669G>A, XM_017017584.1:c.669G>A, XM_017017585.2:c.669G>A, XM_017017585.1:c.669G>A, XM_017017597.2:c.669G>A, XM_017017597.1:c.669G>A, XM_017017582.2:c.669G>A, XM_017017582.1:c.669G>A, XM_017017583.2:c.669G>A, XM_017017583.1:c.669G>A, XM_011520011.2:c.669G>A, XM_011520011.1:c.669G>A, XM_017017592.2:c.477G>A, XM_017017592.1:c.477G>A, XM_017017590.2:c.477G>A, XM_017017590.1:c.477G>A, XM_017017591.2:c.477G>A, XM_017017591.1:c.477G>A, XM_011520019.2:c.669G>A, XM_011520019.1:c.669G>A, XM_017017588.2:c.669G>A, XM_017017588.1:c.669G>A, XM_017017587.2:c.669G>A, XM_017017587.1:c.669G>A, XM_017017598.2:c.669G>A, XM_017017598.1:c.669G>A, XM_017017595.2:c.477G>A, XM_017017595.1:c.477G>A, NM_001286606.2:c.459G>A, NM_001286606.1:c.459G>A, XM_017017594.2:c.477G>A, XM_017017594.1:c.477G>A, XM_017017599.2:c.459G>A, XM_017017599.1:c.459G>A, XM_047426807.1:c.651G>A, XM_047426813.1:c.669G>A, XM_047426804.1:c.459G>A, XM_047426806.1:c.651G>A, XM_047426805.1:c.459G>A, XM_047426808.1:c.651G>A, XM_047426819.1:c.477G>A, XM_047426816.1:c.459G>A, XM_047426809.1:c.651G>A, XM_047426815.1:c.477G>A, XM_047426817.1:c.459G>A, XM_047426814.1:c.477G>A, XM_047426810.1:c.651G>A, XM_047426820.1:c.459G>A, XM_047426811.1:c.651G>A, XM_047426822.1:c.477G>A, XM_047426821.1:c.459G>A, XM_047426812.1:c.651G>A, XM_047426823.1:c.459G>A, XM_047426824.1:c.459G>A, XM_047426818.1:c.459G>A, XM_047426826.1:c.459G>A, XM_047426825.1:c.459G>A

Select item 148825246512.

rs1488252465 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 11:828535 (GRCh38)
11:828535 (GRCh37)
Canonical SPDI:: NC_000011.10:828534:CCCC:CCC
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.828538del, NC_000011.9:g.828538del, NG_007478.1:g.587del, NM_173584.4:c.-70del, NM_173584.3:c.-70del, XM_017017586.2:c.-98del, XM_017017586.1:c.-98del, XM_017017593.2:c.-70del, XM_017017593.1:c.-70del, XM_017017589.2:c.-98del, XM_017017589.1:c.-98del, XM_017017584.2:c.-98del, XM_017017584.1:c.-98del, XM_017017585.2:c.-98del, XM_017017585.1:c.-98del, XM_017017597.2:c.-98del, XM_017017597.1:c.-98del, XM_017017582.2:c.-98del, XM_017017582.1:c.-98del, XM_017017583.2:c.-98del, XM_017017583.1:c.-98del, XM_011520011.2:c.-98del, XM_011520011.1:c.-98del, XM_017017592.2:c.-70del, XM_017017592.1:c.-70del, XM_017017590.2:c.-70del, XM_017017590.1:c.-70del, XM_017017591.2:c.-70del, XM_017017591.1:c.-70del, XM_011520019.2:c.-98del, XM_011520019.1:c.-98del, XM_017017598.2:c.-98del, XM_017017598.1:c.-98del, NM_001286606.2:c.-70del, NM_001286606.1:c.-70del, XM_017017599.2:c.-70del, XM_017017599.1:c.-70del, XM_047426807.1:c.-98del, XM_047426813.1:c.-98del, XM_047426804.1:c.-70del, XM_047426806.1:c.-98del, XM_047426805.1:c.-70del, XM_047426808.1:c.-98del, XM_047426819.1:c.-70del, XM_047426816.1:c.-70del, XM_047426809.1:c.-98del, XM_047426815.1:c.-70del, XM_047426817.1:c.-70del, XM_047426814.1:c.-70del, XM_047426810.1:c.-98del, XM_047426820.1:c.-70del, XM_047426811.1:c.-98del, XM_047426822.1:c.-70del, XM_047426821.1:c.-70del, XM_047426812.1:c.-98del, XM_047426823.1:c.-70del, XM_047426824.1:c.-70del, XM_047426826.1:c.-70del

Select item 148825242413.

rs1488252424 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:830531 (GRCh38)
11:830531 (GRCh37)
Canonical SPDI:: NC_000011.10:830530:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.830531C>T, NC_000011.9:g.830531C>T, NG_007478.1:g.2580C>T, XM_017017586.2:c.1097C>T, XM_017017586.1:c.1097C>T, XM_017017593.2:c.905C>T, XM_017017593.1:c.905C>T, XM_017017589.2:c.1079C>T, XM_017017589.1:c.1079C>T, XM_017017584.2:c.1097C>T, XM_017017584.1:c.1097C>T, XM_017017585.2:c.1097C>T, XM_017017585.1:c.1097C>T, XM_017017597.2:c.1097C>T, XM_017017597.1:c.1097C>T, XM_017017582.2:c.1097C>T, XM_017017582.1:c.1097C>T, XM_017017583.2:c.1097C>T, XM_017017583.1:c.1097C>T, XM_017017592.2:c.905C>T, XM_017017592.1:c.905C>T, XM_017017590.2:c.905C>T, XM_017017590.1:c.905C>T, XM_017017591.2:c.905C>T, XM_017017591.1:c.905C>T, XM_017017588.2:c.1097C>T, XM_017017588.1:c.1097C>T, XM_017017587.2:c.1097C>T, XM_017017587.1:c.1097C>T, XM_017017595.2:c.905C>T, XM_017017595.1:c.905C>T, XM_017017594.2:c.905C>T, XM_017017594.1:c.905C>T, XM_047426807.1:c.1079C>T, XM_047426813.1:c.1097C>T, XM_047426804.1:c.887C>T, XM_047426806.1:c.1079C>T, XM_047426805.1:c.887C>T, XM_047426816.1:c.887C>T, XM_047426815.1:c.905C>T, XM_047426817.1:c.887C>T, XM_047426814.1:c.905C>T, XM_047426818.1:c.887C>T, XP_016873075.1:p.Pro366Leu, XP_016873082.1:p.Pro302Leu, XP_016873078.1:p.Pro360Leu, XP_016873073.1:p.Pro366Leu, XP_016873074.1:p.Pro366Leu, XP_016873086.1:p.Pro366Leu, XP_016873071.1:p.Pro366Leu, XP_016873072.1:p.Pro366Leu, XP_016873081.1:p.Pro302Leu, XP_016873079.1:p.Pro302Leu, XP_016873080.1:p.Pro302Leu, XP_016873077.1:p.Pro366Leu, XP_016873076.1:p.Pro366Leu, XP_016873084.1:p.Pro302Leu, XP_016873083.1:p.Pro302Leu, XP_047282763.1:p.Pro360Leu, XP_047282769.1:p.Pro366Leu, XP_047282760.1:p.Pro296Leu, XP_047282762.1:p.Pro360Leu, XP_047282761.1:p.Pro296Leu, XP_047282772.1:p.Pro296Leu, XP_047282771.1:p.Pro302Leu, XP_047282773.1:p.Pro296Leu, XP_047282770.1:p.Pro302Leu, XP_047282774.1:p.Pro296Leu

Select item 148783837714.

rs1487838377 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:830711 (GRCh38)
11:830711 (GRCh37)
Canonical SPDI:: NC_000011.10:830710:G:A
Gene:: CRACR2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.830711G>A, NC_000011.9:g.830711G>A, NG_007478.1:g.2760G>A, NM_173584.4:c.784G>A, NM_173584.3:c.784G>A, XM_017017586.2:c.1277G>A, XM_017017586.1:c.1277G>A, XM_017017593.2:c.1085G>A, XM_017017593.1:c.1085G>A, XM_017017589.2:c.1259G>A, XM_017017589.1:c.1259G>A, XM_017017584.2:c.1277G>A, XM_017017584.1:c.1277G>A, XM_017017585.2:c.1277G>A, XM_017017585.1:c.1277G>A, XM_017017597.2:c.1277G>A, XM_017017597.1:c.1277G>A, XM_017017582.2:c.1277G>A, XM_017017582.1:c.1277G>A, XM_017017583.2:c.1277G>A, XM_017017583.1:c.1277G>A, XM_011520011.2:c.994G>A, XM_011520011.1:c.994G>A, XM_017017592.2:c.1085G>A, XM_017017592.1:c.1085G>A, XM_017017590.2:c.1085G>A, XM_017017590.1:c.1085G>A, XM_017017591.2:c.1085G>A, XM_017017591.1:c.1085G>A, XM_011520019.2:c.994G>A, XM_011520019.1:c.994G>A, XM_017017588.2:c.1277G>A, XM_017017588.1:c.1277G>A, XM_017017587.2:c.1277G>A, XM_017017587.1:c.1277G>A, XM_017017598.2:c.994G>A, XM_017017598.1:c.994G>A, XM_017017595.2:c.1085G>A, XM_017017595.1:c.1085G>A, NM_001286606.2:c.784G>A, NM_001286606.1:c.784G>A, XM_017017594.2:c.1085G>A, XM_017017594.1:c.1085G>A, XM_017017599.2:c.784G>A, XM_017017599.1:c.784G>A, XM_047426807.1:c.1259G>A, XM_047426813.1:c.1277G>A, XM_047426804.1:c.1067G>A, XM_047426806.1:c.1259G>A, XM_047426805.1:c.1067G>A, XM_047426808.1:c.976G>A, XM_047426819.1:c.802G>A, XM_047426816.1:c.1067G>A, XM_047426809.1:c.976G>A, XM_047426815.1:c.1085G>A, XM_047426817.1:c.1067G>A, XM_047426814.1:c.1085G>A, XM_047426810.1:c.976G>A, XM_047426820.1:c.784G>A, XM_047426811.1:c.976G>A, XM_047426822.1:c.802G>A, XM_047426821.1:c.784G>A, XM_047426812.1:c.976G>A, XM_047426823.1:c.784G>A, XM_047426824.1:c.784G>A, XM_047426818.1:c.1067G>A, XM_047426826.1:c.784G>A, XM_047426825.1:c.784G>A, NP_775855.3:p.Glu262Lys, XP_016873075.1:p.Gly426Glu, XP_016873082.1:p.Gly362Glu, XP_016873078.1:p.Gly420Glu, XP_016873073.1:p.Gly426Glu, XP_016873074.1:p.Gly426Glu, XP_016873086.1:p.Gly426Glu, XP_016873071.1:p.Gly426Glu, XP_016873072.1:p.Gly426Glu, XP_011518313.1:p.Glu332Lys, XP_016873081.1:p.Gly362Glu, XP_016873079.1:p.Gly362Glu, XP_016873080.1:p.Gly362Glu, XP_011518321.1:p.Glu332Lys, XP_016873077.1:p.Gly426Glu, XP_016873076.1:p.Gly426Glu, XP_016873087.1:p.Glu332Lys, XP_016873084.1:p.Gly362Glu, NP_001273535.1:p.Glu262Lys, XP_016873083.1:p.Gly362Glu, XP_016873088.1:p.Glu262Lys, XP_047282763.1:p.Gly420Glu, XP_047282769.1:p.Gly426Glu, XP_047282760.1:p.Gly356Glu, XP_047282762.1:p.Gly420Glu, XP_047282761.1:p.Gly356Glu, XP_047282764.1:p.Glu326Lys, XP_047282775.1:p.Glu268Lys, XP_047282772.1:p.Gly356Glu, XP_047282765.1:p.Glu326Lys, XP_047282771.1:p.Gly362Glu, XP_047282773.1:p.Gly356Glu, XP_047282770.1:p.Gly362Glu, XP_047282766.1:p.Glu326Lys, XP_047282776.1:p.Glu262Lys, XP_047282767.1:p.Glu326Lys, XP_047282778.1:p.Glu268Lys, XP_047282777.1:p.Glu262Lys, XP_047282768.1:p.Glu326Lys, XP_047282779.1:p.Glu262Lys, XP_047282780.1:p.Glu262Lys, XP_047282774.1:p.Gly356Glu, XP_047282782.1:p.Glu262Lys, XP_047282781.1:p.Glu262Lys

Select item 148761891315.

rs1487618913 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 11:830475 (GRCh38)
11:830476 (GRCh37)
Canonical SPDI:: NC_000011.10:830475:A:AA
Gene:: CRACR2B (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000011.10:g.830476dup, NC_000011.9:g.830476dup, NG_007478.1:g.2525dup, XM_017017586.2:c.1042dup, XM_017017586.1:c.1042dup, XM_017017593.2:c.850dup, XM_017017593.1:c.850dup, XM_017017589.2:c.1024dup, XM_017017589.1:c.1024dup, XM_017017584.2:c.1042dup, XM_017017584.1:c.1042dup, XM_017017585.2:c.1042dup, XM_017017585.1:c.1042dup, XM_017017597.2:c.1042dup, XM_017017597.1:c.1042dup, XM_017017582.2:c.1042dup, XM_017017582.1:c.1042dup, XM_017017583.2:c.1042dup, XM_017017583.1:c.1042dup, XM_017017592.2:c.850dup, XM_017017592.1:c.850dup, XM_017017590.2:c.850dup, XM_017017590.1:c.850dup, XM_017017591.2:c.850dup, XM_017017591.1:c.850dup, XM_017017588.2:c.1042dup, XM_017017588.1:c.1042dup, XM_017017587.2:c.1042dup, XM_017017587.1:c.1042dup, XM_017017595.2:c.850dup, XM_017017595.1:c.850dup, XM_017017594.2:c.850dup, XM_017017594.1:c.850dup, XM_047426807.1:c.1024dup, XM_047426813.1:c.1042dup, XM_047426804.1:c.832dup, XM_047426806.1:c.1024dup, XM_047426805.1:c.832dup, XM_047426816.1:c.832dup, XM_047426815.1:c.850dup, XM_047426817.1:c.832dup, XM_047426814.1:c.850dup, XM_047426818.1:c.832dup, XP_016873075.1:p.Thr348fs, XP_016873082.1:p.Thr284fs, XP_016873078.1:p.Thr342fs, XP_016873073.1:p.Thr348fs, XP_016873074.1:p.Thr348fs, XP_016873086.1:p.Thr348fs, XP_016873071.1:p.Thr348fs, XP_016873072.1:p.Thr348fs, XP_016873081.1:p.Thr284fs, XP_016873079.1:p.Thr284fs, XP_016873080.1:p.Thr284fs, XP_016873077.1:p.Thr348fs, XP_016873076.1:p.Thr348fs, XP_016873084.1:p.Thr284fs, XP_016873083.1:p.Thr284fs, XP_047282763.1:p.Thr342fs, XP_047282769.1:p.Thr348fs, XP_047282760.1:p.Thr278fs, XP_047282762.1:p.Thr342fs, XP_047282761.1:p.Thr278fs, XP_047282772.1:p.Thr278fs, XP_047282771.1:p.Thr284fs, XP_047282773.1:p.Thr278fs, XP_047282770.1:p.Thr284fs, XP_047282774.1:p.Thr278fs

Select item 148757156716.

rs1487571567 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:829617 (GRCh38)
11:829617 (GRCh37)
Canonical SPDI:: NC_000011.10:829616:G:C
Gene:: CRACR2B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000011.10:g.829617G>C, NC_000011.9:g.829617G>C, NG_007478.1:g.1666G>C

Select item 148694987817.

rs1486949878 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 11:825645 (GRCh38)
11:825645 (GRCh37)
Canonical SPDI:: NC_000011.10:825644:T:
Gene:: PNPLA2 (Varview), CRACR2B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.825645del, NC_000011.9:g.825645del, NG_023394.1:g.11745del

Select item 148693110818.

rs1486931108 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:827312 (GRCh38)
11:827312 (GRCh37)
Canonical SPDI:: NC_000011.10:827311:C:A,NC_000011.10:827311:C:T
Gene:: CRACR2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.00035/1 (KOREAN)
HGVS:: NC_000011.10:g.827312C>A, NC_000011.10:g.827312C>T, NC_000011.9:g.827312C>A, NC_000011.9:g.827312C>T, NG_023394.1:g.13412C>A, NG_023394.1:g.13412C>T, XM_017017586.2:c.-383C>A, XM_017017586.2:c.-383C>T, XM_017017586.1:c.-383C>A, XM_017017586.1:c.-383C>T, XM_017017593.2:c.-355C>A, XM_017017593.2:c.-355C>T, XM_017017593.1:c.-355C>A, XM_017017593.1:c.-355C>T, XM_017017584.2:c.-554C>A, XM_017017584.2:c.-554C>T, XM_017017585.2:c.-524C>A, XM_017017585.2:c.-524C>T, XM_017017585.1:c.-524C>A, XM_017017585.1:c.-524C>T, XM_017017592.2:c.-496C>A, XM_017017592.2:c.-496C>T, XM_017017592.1:c.-496C>A, XM_017017592.1:c.-496C>T, XM_017017588.2:c.-209C>A, XM_017017588.2:c.-209C>T, XM_017017595.2:c.-181C>A, XM_017017595.2:c.-181C>T, XM_047426807.1:c.-554C>A, XM_047426807.1:c.-554C>T, XM_047426804.1:c.-526C>A, XM_047426804.1:c.-526C>T, XM_047426805.1:c.-496C>A, XM_047426805.1:c.-496C>T, XM_047426808.1:c.-554C>A, XM_047426808.1:c.-554C>T, XM_047426816.1:c.-526C>A, XM_047426816.1:c.-526C>T, XM_047426809.1:c.-383C>A, XM_047426809.1:c.-383C>T, XM_047426815.1:c.-496C>A, XM_047426815.1:c.-496C>T, XM_047426817.1:c.-496C>A, XM_047426817.1:c.-496C>T, XM_047426810.1:c.-554C>A, XM_047426810.1:c.-554C>T, XM_047426820.1:c.-526C>A, XM_047426820.1:c.-526C>T, XM_047426811.1:c.-524C>A, XM_047426811.1:c.-524C>T, XM_047426821.1:c.-496C>A, XM_047426821.1:c.-496C>T, XM_047426812.1:c.-383C>A, XM_047426812.1:c.-383C>T, XM_047426823.1:c.-526C>A, XM_047426823.1:c.-526C>T, XM_047426824.1:c.-496C>A, XM_047426824.1:c.-496C>T, XM_047426826.1:c.-526C>A, XM_047426826.1:c.-526C>T, XM_047426825.1:c.-181C>A, XM_047426825.1:c.-181C>T

Select item 148684938819.

rs1486849388 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:831059 (GRCh38)
11:831059 (GRCh37)
Canonical SPDI:: NC_000011.10:831058:C:A
Gene:: CD151 (Varview), CRACR2B (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,2KB_upstream_variant,missense_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000011.10:g.831059C>A, NC_000011.9:g.831059C>A, NG_007478.1:g.3108C>A, XM_017017586.2:c.1473C>A, XM_017017586.1:c.1473C>A, XM_017017593.2:c.1281C>A, XM_017017593.1:c.1281C>A, XM_017017589.2:c.1455C>A, XM_017017589.1:c.1455C>A, XM_017017584.2:c.1473C>A, XM_017017584.1:c.1473C>A, XM_017017585.2:c.1473C>A, XM_017017585.1:c.1473C>A, XM_017017582.2:c.1473C>A, XM_017017582.1:c.1473C>A, XM_017017583.2:c.1473C>A, XM_017017583.1:c.1473C>A, XM_011520011.2:c.1190C>A, XM_011520011.1:c.1190C>A, XM_017017592.2:c.1281C>A, XM_017017592.1:c.1281C>A, XM_017017590.2:c.1281C>A, XM_017017590.1:c.1281C>A, XM_017017591.2:c.1281C>A, XM_017017591.1:c.1281C>A, XM_017017588.2:c.1473C>A, XM_017017588.1:c.1473C>A, XM_017017587.2:c.1473C>A, XM_017017587.1:c.1473C>A, XM_017017595.2:c.1281C>A, XM_017017595.1:c.1281C>A, XM_017017594.2:c.1281C>A, XM_017017594.1:c.1281C>A, XM_047426804.1:c.1263C>A, XM_047426805.1:c.1263C>A, XM_047426808.1:c.1172C>A, XM_047426819.1:c.998C>A, XM_047426809.1:c.1172C>A, XM_047426820.1:c.980C>A, XM_047426821.1:c.980C>A, XP_011518313.1:p.Pro397His, XP_047282764.1:p.Pro391His, XP_047282775.1:p.Pro333His, XP_047282765.1:p.Pro391His, XP_047282776.1:p.Pro327His, XP_047282777.1:p.Pro327His

Select item 148680462420.

rs1486804624 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCT>- [Show Flanks]
Chromosome:: 11:825286 (GRCh38)
11:825286 (GRCh37)
Canonical SPDI:: NC_000011.10:825280:GGTCTGGCCCTACCTTGGCTGACCAGCCTCTCCACAGCTGCAGGCCAGGTCT:GGTCT
Gene:: PNPLA2 (Varview), CRACR2B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGTCT=0./0 (ALFA)
HGVS:: NC_000011.10:g.825286_825332del, NC_000011.9:g.825286_825332del, NG_023394.1:g.11386_11432del, NM_020376.4:c.*424_*470del, NM_020376.3:c.*424_*470del

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