SNP Links for Protein (Select 767912360) - SNP

Select item 14902200541.

rs1490220054 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248917990 (GRCh38)
1:249212189 (GRCh37)
Canonical SPDI:: NC_000001.11:248917989:A:G
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248917990A>G, NC_000001.10:g.249212189A>G, XM_011544161.4:c.1406A>G, XM_011544161.3:c.1406A>G, XM_011544161.2:c.1406A>G, XM_011544161.1:c.1406A>G, XM_011544159.3:c.1406A>G, XM_011544159.2:c.1406A>G, XM_011544159.1:c.1406A>G, NM_170725.3:c.1406A>G, NM_170725.2:c.1406A>G, NM_001017434.2:c.653A>G, NM_001017434.1:c.653A>G, XM_047417842.1:c.1397A>G, XM_047417844.1:c.653A>G, XP_011542463.1:p.Asn469Ser, XP_011542461.1:p.Asn469Ser, NP_733843.1:p.Asn469Ser, NP_001017434.1:p.Asn218Ser, XP_047273798.1:p.Asn466Ser, XP_047273800.1:p.Asn218Ser

Select item 14896667782.

rs1489666778 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248918312 (GRCh38)
1:249212511 (GRCh37)
Canonical SPDI:: NC_000001.11:248918311:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248918312G>A, NC_000001.10:g.249212511G>A, XM_011544161.4:c.1728G>A, XM_011544161.3:c.1728G>A, XM_011544161.2:c.1728G>A, XM_011544161.1:c.1728G>A, XM_011544159.3:c.1728G>A, XM_011544159.2:c.1728G>A, XM_011544159.1:c.1728G>A, NM_170725.3:c.1728G>A, NM_170725.2:c.1728G>A, NM_001017434.2:c.975G>A, NM_001017434.1:c.975G>A, XM_047417842.1:c.1719G>A, XM_047417844.1:c.975G>A

Select item 14890871343.

rs1489087134 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:248917247 (GRCh38)
1:249211446 (GRCh37)
Canonical SPDI:: NC_000001.11:248917246:T:G
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248917247T>G, NC_000001.10:g.249211446T>G, XM_011544161.4:c.663T>G, XM_011544161.3:c.663T>G, XM_011544161.2:c.663T>G, XM_011544161.1:c.663T>G, XM_011544159.3:c.663T>G, XM_011544159.2:c.663T>G, XM_011544159.1:c.663T>G, NM_170725.3:c.663T>G, NM_170725.2:c.663T>G, XM_047417842.1:c.654T>G, XM_047417849.1:c.663T>G, XM_047417845.1:c.663T>G, XP_011542463.1:p.Phe221Leu, XP_011542461.1:p.Phe221Leu, NP_733843.1:p.Phe221Leu, XP_047273798.1:p.Phe218Leu, XP_047273805.1:p.Phe221Leu, XP_047273801.1:p.Phe221Leu

Select item 14850467594.

rs1485046759 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248916927 (GRCh38)
1:249211126 (GRCh37)
Canonical SPDI:: NC_000001.11:248916926:A:G
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.248916927A>G, NC_000001.10:g.249211126A>G, XM_011544161.4:c.343A>G, XM_011544161.3:c.343A>G, XM_011544161.2:c.343A>G, XM_011544161.1:c.343A>G, XM_011544159.3:c.343A>G, XM_011544159.2:c.343A>G, XM_011544159.1:c.343A>G, NM_170725.3:c.343A>G, NM_170725.2:c.343A>G, XM_047417842.1:c.334A>G, XM_047417849.1:c.343A>G, XM_047417845.1:c.343A>G, XP_011542463.1:p.Arg115Gly, XP_011542461.1:p.Arg115Gly, NP_733843.1:p.Arg115Gly, XP_047273798.1:p.Arg112Gly, XP_047273805.1:p.Arg115Gly, XP_047273801.1:p.Arg115Gly

Select item 14850072935.

rs1485007293 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248917966 (GRCh38)
1:249212165 (GRCh37)
Canonical SPDI:: NC_000001.11:248917965:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248917966G>A, NC_000001.10:g.249212165G>A, XM_011544161.4:c.1382G>A, XM_011544161.3:c.1382G>A, XM_011544161.2:c.1382G>A, XM_011544161.1:c.1382G>A, XM_011544159.3:c.1382G>A, XM_011544159.2:c.1382G>A, XM_011544159.1:c.1382G>A, NM_170725.3:c.1382G>A, NM_170725.2:c.1382G>A, NM_001017434.2:c.629G>A, NM_001017434.1:c.629G>A, XM_047417842.1:c.1373G>A, XM_047417844.1:c.629G>A, XP_011542463.1:p.Gly461Asp, XP_011542461.1:p.Gly461Asp, NP_733843.1:p.Gly461Asp, NP_001017434.1:p.Gly210Asp, XP_047273798.1:p.Gly458Asp, XP_047273800.1:p.Gly210Asp

Select item 14837281916.

rs1483728191 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:248916962 (GRCh38)
1:249211161 (GRCh37)
Canonical SPDI:: NC_000001.11:248916961:A:G,NC_000001.11:248916961:A:T
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248916962A>G, NC_000001.11:g.248916962A>T, NC_000001.10:g.249211161A>G, NC_000001.10:g.249211161A>T, XM_011544161.4:c.378A>G, XM_011544161.4:c.378A>T, XM_011544161.3:c.378A>G, XM_011544161.3:c.378A>T, XM_011544161.2:c.378A>G, XM_011544161.2:c.378A>T, XM_011544161.1:c.378A>G, XM_011544161.1:c.378A>T, XM_011544159.3:c.378A>G, XM_011544159.3:c.378A>T, XM_011544159.2:c.378A>G, XM_011544159.2:c.378A>T, XM_011544159.1:c.378A>G, XM_011544159.1:c.378A>T, NM_170725.3:c.378A>G, NM_170725.3:c.378A>T, NM_170725.2:c.378A>G, NM_170725.2:c.378A>T, XM_047417842.1:c.369A>G, XM_047417842.1:c.369A>T, XM_047417849.1:c.378A>G, XM_047417849.1:c.378A>T, XM_047417845.1:c.378A>G, XM_047417845.1:c.378A>T

Select item 14827302607.

rs1482730260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248917152 (GRCh38)
1:249211351 (GRCh37)
Canonical SPDI:: NC_000001.11:248917151:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248917152G>A, NC_000001.10:g.249211351G>A, XM_011544161.4:c.568G>A, XM_011544161.3:c.568G>A, XM_011544161.2:c.568G>A, XM_011544161.1:c.568G>A, XM_011544159.3:c.568G>A, XM_011544159.2:c.568G>A, XM_011544159.1:c.568G>A, NM_170725.3:c.568G>A, NM_170725.2:c.568G>A, XM_047417842.1:c.559G>A, XM_047417849.1:c.568G>A, XM_047417845.1:c.568G>A, XP_011542463.1:p.Gly190Arg, XP_011542461.1:p.Gly190Arg, NP_733843.1:p.Gly190Arg, XP_047273798.1:p.Gly187Arg, XP_047273805.1:p.Gly190Arg, XP_047273801.1:p.Gly190Arg

Select item 14823896028.

rs1482389602 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248917150 (GRCh38)
1:249211349 (GRCh37)
Canonical SPDI:: NC_000001.11:248917149:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248917150G>A, NC_000001.10:g.249211349G>A, XM_011544161.4:c.566G>A, XM_011544161.3:c.566G>A, XM_011544161.2:c.566G>A, XM_011544161.1:c.566G>A, XM_011544159.3:c.566G>A, XM_011544159.2:c.566G>A, XM_011544159.1:c.566G>A, NM_170725.3:c.566G>A, NM_170725.2:c.566G>A, XM_047417842.1:c.557G>A, XM_047417849.1:c.566G>A, XM_047417845.1:c.566G>A, XP_011542463.1:p.Ser189Asn, XP_011542461.1:p.Ser189Asn, NP_733843.1:p.Ser189Asn, XP_047273798.1:p.Ser186Asn, XP_047273805.1:p.Ser189Asn, XP_047273801.1:p.Ser189Asn

Select item 14821366249.

rs1482136624 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:248917400 (GRCh38)
1:249211599 (GRCh37)
Canonical SPDI:: NC_000001.11:248917399:G:A
Gene:: PGBD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.00005/1 (ALFA)
HGVS:: NC_000001.11:g.248917400G>A, NC_000001.10:g.249211599G>A, XM_011544161.4:c.816G>A, XM_011544161.3:c.816G>A, XM_011544161.2:c.816G>A, XM_011544161.1:c.816G>A, XM_011544159.3:c.816G>A, XM_011544159.2:c.816G>A, XM_011544159.1:c.816G>A, NM_170725.3:c.816G>A, NM_170725.2:c.816G>A, NM_001017434.2:c.63G>A, NM_001017434.1:c.63G>A, XM_047417842.1:c.807G>A, XM_047417844.1:c.63G>A, XM_047417849.1:c.816G>A, XM_047417845.1:c.816G>A, XP_011542463.1:p.Met272Ile, XP_011542461.1:p.Met272Ile, NP_733843.1:p.Met272Ile, NP_001017434.1:p.Met21Ile, XP_047273798.1:p.Met269Ile, XP_047273800.1:p.Met21Ile, XP_047273805.1:p.Met272Ile, XP_047273801.1:p.Met272Ile

Select item 148208638110.

rs1482086381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 1:248916697 (GRCh38)
1:249210896 (GRCh37)
Canonical SPDI:: NC_000001.11:248916688:CAACAACAACA:CAACAACA
Gene:: PGBD2 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248916691ACA[2], NC_000001.10:g.249210890ACA[2], XM_011544161.4:c.107ACA[2], XM_011544161.3:c.107ACA[2], XM_011544161.2:c.107ACA[2], XM_011544161.1:c.107ACA[2], XM_011544159.3:c.107ACA[2], XM_011544159.2:c.107ACA[2], XM_011544159.1:c.107ACA[2], NM_170725.3:c.107ACA[2], NM_170725.2:c.107ACA[2], XM_047417842.1:c.98ACA[2], XM_047417849.1:c.107ACA[2], XM_047417845.1:c.107ACA[2], XP_011542463.1:p.Asn38del, XP_011542461.1:p.Asn38del, NP_733843.1:p.Asn38del, XP_047273798.1:p.Asn35del, XP_047273805.1:p.Asn38del, XP_047273801.1:p.Asn38del

Select item 147878163111.

rs1478781631 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:248917398 (GRCh38)
1:249211597 (GRCh37)
Canonical SPDI:: NC_000001.11:248917397:A:G,NC_000001.11:248917397:A:T
Gene:: PGBD2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248917398A>G, NC_000001.11:g.248917398A>T, NC_000001.10:g.249211597A>G, NC_000001.10:g.249211597A>T, XM_011544161.4:c.814A>G, XM_011544161.4:c.814A>T, XM_011544161.3:c.814A>G, XM_011544161.3:c.814A>T, XM_011544161.2:c.814A>G, XM_011544161.2:c.814A>T, XM_011544161.1:c.814A>G, XM_011544161.1:c.814A>T, XM_011544159.3:c.814A>G, XM_011544159.3:c.814A>T, XM_011544159.2:c.814A>G, XM_011544159.2:c.814A>T, XM_011544159.1:c.814A>G, XM_011544159.1:c.814A>T, NM_170725.3:c.814A>G, NM_170725.3:c.814A>T, NM_170725.2:c.814A>G, NM_170725.2:c.814A>T, NM_001017434.2:c.61A>G, NM_001017434.2:c.61A>T, NM_001017434.1:c.61A>G, NM_001017434.1:c.61A>T, XM_047417842.1:c.805A>G, XM_047417842.1:c.805A>T, XM_047417844.1:c.61A>G, XM_047417844.1:c.61A>T, XM_047417849.1:c.814A>G, XM_047417849.1:c.814A>T, XM_047417845.1:c.814A>G, XM_047417845.1:c.814A>T, XP_011542463.1:p.Met272Val, XP_011542463.1:p.Met272Leu, XP_011542461.1:p.Met272Val, XP_011542461.1:p.Met272Leu, NP_733843.1:p.Met272Val, NP_733843.1:p.Met272Leu, NP_001017434.1:p.Met21Val, NP_001017434.1:p.Met21Leu, XP_047273798.1:p.Met269Val, XP_047273798.1:p.Met269Leu, XP_047273800.1:p.Met21Val, XP_047273800.1:p.Met21Leu, XP_047273805.1:p.Met272Val, XP_047273805.1:p.Met272Leu, XP_047273801.1:p.Met272Val, XP_047273801.1:p.Met272Leu

Select item 147849494612.

rs1478494946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGAA>- [Show Flanks]
Chromosome:: 1:248917061 (GRCh38)
1:249211260 (GRCh37)
Canonical SPDI:: NC_000001.11:248917058:AATGAA:AA
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248917061_248917064del, NC_000001.10:g.249211260_249211263del, XM_011544161.4:c.477_480del, XM_011544161.3:c.477_480del, XM_011544161.2:c.477_480del, XM_011544161.1:c.477_480del, XM_011544159.3:c.477_480del, XM_011544159.2:c.477_480del, XM_011544159.1:c.477_480del, NM_170725.3:c.477_480del, NM_170725.2:c.477_480del, XM_047417842.1:c.468_471del, XM_047417849.1:c.477_480del, XM_047417845.1:c.477_480del, XP_011542463.1:p.Asn159fs, XP_011542461.1:p.Asn159fs, NP_733843.1:p.Asn159fs, XP_047273798.1:p.Asn156fs, XP_047273805.1:p.Asn159fs, XP_047273801.1:p.Asn159fs

Select item 147849059413.

rs1478490594 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248916815 (GRCh38)
1:249211014 (GRCh37)
Canonical SPDI:: NC_000001.11:248916814:T:C
Gene:: PGBD2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.248916815T>C, NC_000001.10:g.249211014T>C, XM_011544161.4:c.231T>C, XM_011544161.3:c.231T>C, XM_011544161.2:c.231T>C, XM_011544161.1:c.231T>C, XM_011544159.3:c.231T>C, XM_011544159.2:c.231T>C, XM_011544159.1:c.231T>C, NM_170725.3:c.231T>C, NM_170725.2:c.231T>C, XM_047417842.1:c.222T>C, XM_047417849.1:c.231T>C, XM_047417845.1:c.231T>C

Select item 147522716014.

rs1475227160 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248917647 (GRCh38)
1:249211846 (GRCh37)
Canonical SPDI:: NC_000001.11:248917646:A:G
Gene:: PGBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.248917647A>G, NC_000001.10:g.249211846A>G, XM_011544161.4:c.1063A>G, XM_011544161.3:c.1063A>G, XM_011544161.2:c.1063A>G, XM_011544161.1:c.1063A>G, XM_011544159.3:c.1063A>G, XM_011544159.2:c.1063A>G, XM_011544159.1:c.1063A>G, NM_170725.3:c.1063A>G, NM_170725.2:c.1063A>G, NM_001017434.2:c.310A>G, NM_001017434.1:c.310A>G, XM_047417842.1:c.1054A>G, XM_047417844.1:c.310A>G, XP_011542463.1:p.Thr355Ala, XP_011542461.1:p.Thr355Ala, NP_733843.1:p.Thr355Ala, NP_001017434.1:p.Thr104Ala, XP_047273798.1:p.Thr352Ala, XP_047273800.1:p.Thr104Ala

Select item 147228466315.

rs1472284663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:248917639 (GRCh38)
1:249211838 (GRCh37)
Canonical SPDI:: NC_000001.11:248917638:A:G
Gene:: PGBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.248917639A>G, NC_000001.10:g.249211838A>G, XM_011544161.4:c.1055A>G, XM_011544161.3:c.1055A>G, XM_011544161.2:c.1055A>G, XM_011544161.1:c.1055A>G, XM_011544159.3:c.1055A>G, XM_011544159.2:c.1055A>G, XM_011544159.1:c.1055A>G, NM_170725.3:c.1055A>G, NM_170725.2:c.1055A>G, NM_001017434.2:c.302A>G, NM_001017434.1:c.302A>G, XM_047417842.1:c.1046A>G, XM_047417844.1:c.302A>G, XP_011542463.1:p.Lys352Arg, XP_011542461.1:p.Lys352Arg, NP_733843.1:p.Lys352Arg, NP_001017434.1:p.Lys101Arg, XP_047273798.1:p.Lys349Arg, XP_047273800.1:p.Lys101Arg

Select item 147167250616.

rs1471672506 [Homo sapiens]

Variant type:: DEL
Alleles:: AGA>- [Show Flanks]
Chromosome:: 1:248916602 (GRCh38)
1:249210801 (GRCh37)
Canonical SPDI:: NC_000001.11:248916601:AGA:
Gene:: PGBD2 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_indel,intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248916602_248916604del, NC_000001.10:g.249210801_249210803del, XM_011544161.4:c.18_20del, XM_011544161.3:c.18_20del, XM_011544161.2:c.18_20del, XM_011544161.1:c.18_20del, XM_011544159.3:c.18_20del, XM_011544159.2:c.18_20del, XM_011544159.1:c.18_20del, NM_170725.3:c.18_20del, NM_170725.2:c.18_20del, XM_047417842.1:c.9_11del, XM_047417849.1:c.18_20del, XM_047417845.1:c.18_20del, XP_011542463.1:p.Arg6_Asp7delinsSer, XP_011542461.1:p.Arg6_Asp7delinsSer, NP_733843.1:p.Arg6_Asp7delinsSer, XP_047273798.1:p.Arg3_Asp4delinsSer, XP_047273805.1:p.Arg6_Asp7delinsSer, XP_047273801.1:p.Arg6_Asp7delinsSer

Select item 146677832117.

rs1466778321 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:248917114 (GRCh38)
1:249211313 (GRCh37)
Canonical SPDI:: NC_000001.11:248917113:A:G,NC_000001.11:248917113:A:T
Gene:: PGBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.248917114A>G, NC_000001.11:g.248917114A>T, NC_000001.10:g.249211313A>G, NC_000001.10:g.249211313A>T, XM_011544161.4:c.530A>G, XM_011544161.4:c.530A>T, XM_011544161.3:c.530A>G, XM_011544161.3:c.530A>T, XM_011544161.2:c.530A>G, XM_011544161.2:c.530A>T, XM_011544161.1:c.530A>G, XM_011544161.1:c.530A>T, XM_011544159.3:c.530A>G, XM_011544159.3:c.530A>T, XM_011544159.2:c.530A>G, XM_011544159.2:c.530A>T, XM_011544159.1:c.530A>G, XM_011544159.1:c.530A>T, NM_170725.3:c.530A>G, NM_170725.3:c.530A>T, NM_170725.2:c.530A>G, NM_170725.2:c.530A>T, XM_047417842.1:c.521A>G, XM_047417842.1:c.521A>T, XM_047417849.1:c.530A>G, XM_047417849.1:c.530A>T, XM_047417845.1:c.530A>G, XM_047417845.1:c.530A>T, XP_011542463.1:p.Gln177Arg, XP_011542463.1:p.Gln177Leu, XP_011542461.1:p.Gln177Arg, XP_011542461.1:p.Gln177Leu, NP_733843.1:p.Gln177Arg, NP_733843.1:p.Gln177Leu, XP_047273798.1:p.Gln174Arg, XP_047273798.1:p.Gln174Leu, XP_047273805.1:p.Gln177Arg, XP_047273805.1:p.Gln177Leu, XP_047273801.1:p.Gln177Arg, XP_047273801.1:p.Gln177Leu

Select item 146663801618.

rs1466638016 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 1:248917091 (GRCh38)
1:249211290 (GRCh37)
Canonical SPDI:: NC_000001.11:248917090:T:A,NC_000001.11:248917090:T:C
Gene:: PGBD2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.248917091T>A, NC_000001.11:g.248917091T>C, NC_000001.10:g.249211290T>A, NC_000001.10:g.249211290T>C, XM_011544161.4:c.507T>A, XM_011544161.4:c.507T>C, XM_011544161.3:c.507T>A, XM_011544161.3:c.507T>C, XM_011544161.2:c.507T>A, XM_011544161.2:c.507T>C, XM_011544161.1:c.507T>A, XM_011544161.1:c.507T>C, XM_011544159.3:c.507T>A, XM_011544159.3:c.507T>C, XM_011544159.2:c.507T>A, XM_011544159.2:c.507T>C, XM_011544159.1:c.507T>A, XM_011544159.1:c.507T>C, NM_170725.3:c.507T>A, NM_170725.3:c.507T>C, NM_170725.2:c.507T>A, NM_170725.2:c.507T>C, XM_047417842.1:c.498T>A, XM_047417842.1:c.498T>C, XM_047417849.1:c.507T>A, XM_047417849.1:c.507T>C, XM_047417845.1:c.507T>A, XM_047417845.1:c.507T>C, XP_011542463.1:p.Asn169Lys, XP_011542461.1:p.Asn169Lys, NP_733843.1:p.Asn169Lys, XP_047273798.1:p.Asn166Lys, XP_047273805.1:p.Asn169Lys, XP_047273801.1:p.Asn169Lys

Select item 146649876819.

rs1466498768 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:248917228 (GRCh38)
1:249211427 (GRCh37)
Canonical SPDI:: NC_000001.11:248917227:C:G
Gene:: PGBD2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248917228C>G, NC_000001.10:g.249211427C>G, XM_011544161.4:c.644C>G, XM_011544161.3:c.644C>G, XM_011544161.2:c.644C>G, XM_011544161.1:c.644C>G, XM_011544159.3:c.644C>G, XM_011544159.2:c.644C>G, XM_011544159.1:c.644C>G, NM_170725.3:c.644C>G, NM_170725.2:c.644C>G, XM_047417842.1:c.635C>G, XM_047417849.1:c.644C>G, XM_047417845.1:c.644C>G, XP_011542463.1:p.Ala215Gly, XP_011542461.1:p.Ala215Gly, NP_733843.1:p.Ala215Gly, XP_047273798.1:p.Ala212Gly, XP_047273805.1:p.Ala215Gly, XP_047273801.1:p.Ala215Gly

Select item 146552901120.

rs1465529011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:248916803 (GRCh38)
1:249211002 (GRCh37)
Canonical SPDI:: NC_000001.11:248916802:T:C
Gene:: PGBD2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.248916803T>C, NC_000001.10:g.249211002T>C, XM_011544161.4:c.219T>C, XM_011544161.3:c.219T>C, XM_011544161.2:c.219T>C, XM_011544161.1:c.219T>C, XM_011544159.3:c.219T>C, XM_011544159.2:c.219T>C, XM_011544159.1:c.219T>C, NM_170725.3:c.219T>C, NM_170725.2:c.219T>C, XM_047417842.1:c.210T>C, XM_047417849.1:c.219T>C, XM_047417845.1:c.219T>C

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Items: 1 to 20 of 654

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