SNP Links for Protein (Select 22035565) - SNP

Select item 14901412301.

rs1490141230 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32769875 (GRCh38)
21:34142186 (GRCh37)
Canonical SPDI:: NC_000021.9:32769874:C:T
Gene:: PAXBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32769875C>T, NC_000021.8:g.34142186C>T, NW_003315969.2:g.797C>T, NW_003315969.1:g.797C>T, XM_011529804.4:c.411G>A, XM_011529804.3:c.411G>A, XM_011529804.2:c.411G>A, XM_011529804.1:c.411G>A, NM_016631.4:c.411G>A, NM_016631.3:c.411G>A, NM_013329.4:c.411G>A, NM_013329.3:c.411G>A, XM_006724066.3:c.411G>A, XM_006724066.2:c.411G>A, XM_006724066.1:c.411G>A, NM_058191.3:c.411G>A, XM_047441051.1:c.411G>A, NR_027873.2:n.498G>A, NR_027873.1:n.601G>A, NM_058191.2:c.411G>A, NM_058191.1:c.411G>A, NM_145328.1:c.411G>A, XM_047441052.1:c.411G>A

Select item 14880810832.

rs1488081083 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 21:32748675 (GRCh38)
21:34120986 (GRCh37)
Canonical SPDI:: NC_000021.9:32748674:T:C
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_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_000021.9:g.32748675T>C, NC_000021.8:g.34120986T>C, XM_011529804.4:c.1747A>G, XM_011529804.3:c.1747A>G, XM_011529804.2:c.1747A>G, XM_011529804.1:c.1747A>G, NM_016631.4:c.1747A>G, NM_016631.3:c.1747A>G, NM_013329.4:c.1747A>G, NM_013329.3:c.1747A>G, XM_006724066.3:c.1747A>G, XM_006724066.2:c.1747A>G, XM_006724066.1:c.1747A>G, NR_027873.2:n.1851A>G, NR_027873.1:n.1954A>G, NM_145328.1:c.*228A>G, XM_047441051.1:c.1747A>G, XM_047441052.1:c.1631A>G, XP_011528106.1:p.Lys583Glu, NP_057715.2:p.Lys583Glu, NP_037461.2:p.Lys583Glu, XP_006724129.1:p.Lys583Glu, XP_047297007.1:p.Lys583Glu, XP_047297008.1:p.Gln544Arg

Select item 14849686683.

rs1484968668 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 21:32744811 (GRCh38)
21:34117122 (GRCh37)
Canonical SPDI:: NC_000021.9:32744810:G:A,NC_000021.9:32744810:G:C,NC_000021.9:32744810:G:T
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32744811G>A, NC_000021.9:g.32744811G>C, NC_000021.9:g.32744811G>T, NC_000021.8:g.34117122G>A, NC_000021.8:g.34117122G>C, NC_000021.8:g.34117122G>T, NM_016631.4:c.2171C>T, NM_016631.4:c.2171C>G, NM_016631.4:c.2171C>A, NM_016631.3:c.2171C>T, NM_016631.3:c.2171C>G, NM_016631.3:c.2171C>A, NM_013329.4:c.2171C>T, NM_013329.4:c.2171C>G, NM_013329.4:c.2171C>A, NM_013329.3:c.2171C>T, NM_013329.3:c.2171C>G, NM_013329.3:c.2171C>A, XM_006724066.3:c.2171C>T, XM_006724066.3:c.2171C>G, XM_006724066.3:c.2171C>A, XM_006724066.2:c.2171C>T, XM_006724066.2:c.2171C>G, XM_006724066.2:c.2171C>A, XM_006724066.1:c.2171C>T, XM_006724066.1:c.2171C>G, XM_006724066.1:c.2171C>A, NR_027873.2:n.2275C>T, NR_027873.2:n.2275C>G, NR_027873.2:n.2275C>A, NR_027873.1:n.2378C>T, NR_027873.1:n.2378C>G, NR_027873.1:n.2378C>A, NM_145328.1:c.*652C>T, NM_145328.1:c.*652C>G, NM_145328.1:c.*652C>A, XM_047441051.1:c.2171C>T, XM_047441051.1:c.2171C>G, XM_047441051.1:c.2171C>A, NP_057715.2:p.Ala724Val, NP_057715.2:p.Ala724Gly, NP_057715.2:p.Ala724Glu, NP_037461.2:p.Ala724Val, NP_037461.2:p.Ala724Gly, NP_037461.2:p.Ala724Glu, XP_006724129.1:p.Ala724Val, XP_006724129.1:p.Ala724Gly, XP_006724129.1:p.Ala724Glu, XP_047297007.1:p.Ala724Val, XP_047297007.1:p.Ala724Gly, XP_047297007.1:p.Ala724Glu

Select item 14830830884.

rs1483083088 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 21:32769939 (GRCh38)
21:34142250 (GRCh37)
Canonical SPDI:: NC_000021.9:32769938:TTTT:TTT
Gene:: PAXBP1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32769942del, NC_000021.8:g.34142253del, NW_003315969.2:g.864del, NW_003315969.1:g.864del, XM_011529804.4:c.347del, XM_011529804.3:c.347del, XM_011529804.2:c.347del, XM_011529804.1:c.347del, NM_016631.4:c.347del, NM_016631.3:c.347del, NM_013329.4:c.347del, NM_013329.3:c.347del, XM_006724066.3:c.347del, XM_006724066.2:c.347del, XM_006724066.1:c.347del, NM_058191.3:c.347del, XM_047441051.1:c.347del, NR_027873.2:n.434del, NR_027873.1:n.537del, NM_058191.2:c.347del, NM_058191.1:c.347del, NM_145328.1:c.347del, XM_047441052.1:c.347del, XP_011528106.1:p.Asn116fs, NP_057715.2:p.Asn116fs, NP_037461.2:p.Asn116fs, XP_006724129.1:p.Asn116fs, XP_047297007.1:p.Asn116fs, XP_047297008.1:p.Asn116fs

Select item 14820179345.

rs1482017934 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32755278 (GRCh38)
21:34127589 (GRCh37)
Canonical SPDI:: NC_000021.9:32755277:G:A
Gene:: PAXBP1 (Varview), LOC124905010 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000021.9:g.32755278G>A, NC_000021.8:g.34127589G>A, XM_011529804.4:c.1459C>T, XM_011529804.3:c.1459C>T, XM_011529804.2:c.1459C>T, XM_011529804.1:c.1459C>T, NM_016631.4:c.1459C>T, NM_016631.3:c.1459C>T, NM_013329.4:c.1459C>T, NM_013329.3:c.1459C>T, XM_006724066.3:c.1459C>T, XM_006724066.2:c.1459C>T, XM_006724066.1:c.1459C>T, NR_027873.2:n.1546C>T, NR_027873.1:n.1649C>T, XR_007067844.1:n.3262G>A, NM_145328.1:c.1459C>T, XM_047441051.1:c.1459C>T, XM_047441052.1:c.1459C>T, XP_011528106.1:p.Arg487Ter, NP_057715.2:p.Arg487Ter, NP_037461.2:p.Arg487Ter, XP_006724129.1:p.Arg487Ter, XP_047297007.1:p.Arg487Ter, XP_047297008.1:p.Arg487Ter

Select item 14807601156.

rs1480760115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 21:32743288 (GRCh38)
21:34115599 (GRCh37)
Canonical SPDI:: NC_000021.9:32743287:G:C
Gene:: PAXBP1 (Varview), PAXBP1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,500B_downstream_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.32743288G>C, NC_000021.8:g.34115599G>C, NM_016631.4:c.2294C>G, NM_016631.3:c.2294C>G, NM_013329.4:c.2294C>G, NM_013329.3:c.2294C>G, XM_006724066.3:c.2294C>G, XM_006724066.2:c.2294C>G, XM_006724066.1:c.2294C>G, NR_027873.2:n.2398C>G, NR_027873.1:n.2501C>G, NM_145328.1:c.*775C>G, NP_057715.2:p.Pro765Arg, NP_037461.2:p.Pro765Arg, XP_006724129.1:p.Pro765Arg

Select item 14805037027.

rs1480503702 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32771385 (GRCh38)
21:34143696 (GRCh37)
Canonical SPDI:: NC_000021.9:32771384:G:A
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.32771385G>A, NC_000021.8:g.34143696G>A, NW_003315969.2:g.2307G>A, NW_003315969.1:g.2307G>A, XM_011529804.4:c.284C>T, XM_011529804.3:c.284C>T, XM_011529804.2:c.284C>T, XM_011529804.1:c.284C>T, NM_016631.4:c.284C>T, NM_016631.3:c.284C>T, NM_013329.4:c.284C>T, NM_013329.3:c.284C>T, XM_006724066.3:c.284C>T, XM_006724066.2:c.284C>T, XM_006724066.1:c.284C>T, NM_058191.3:c.284C>T, XM_047441051.1:c.284C>T, NR_027873.2:n.371C>T, NR_027873.1:n.474C>T, NM_058191.2:c.284C>T, NM_058191.1:c.284C>T, NM_145328.1:c.284C>T, XM_047441052.1:c.284C>T, XP_011528106.1:p.Pro95Leu, NP_057715.2:p.Pro95Leu, NP_037461.2:p.Pro95Leu, XP_006724129.1:p.Pro95Leu, XP_047297007.1:p.Pro95Leu, XP_047297008.1:p.Pro95Leu

Select item 14793381498.

rs1479338149 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 21:32748516 (GRCh38)
21:34120827 (GRCh37)
Canonical SPDI:: NC_000021.9:32748515:T:A,NC_000021.9:32748515:T:C,NC_000021.9:32748515:T:G
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32748516T>A, NC_000021.9:g.32748516T>C, NC_000021.9:g.32748516T>G, NC_000021.8:g.34120827T>A, NC_000021.8:g.34120827T>C, NC_000021.8:g.34120827T>G, XM_011529804.4:c.1906A>T, XM_011529804.4:c.1906A>G, XM_011529804.4:c.1906A>C, XM_011529804.3:c.1906A>T, XM_011529804.3:c.1906A>G, XM_011529804.3:c.1906A>C, XM_011529804.2:c.1906A>T, XM_011529804.2:c.1906A>G, XM_011529804.2:c.1906A>C, XM_011529804.1:c.1906A>T, XM_011529804.1:c.1906A>G, XM_011529804.1:c.1906A>C, NM_016631.4:c.1906A>T, NM_016631.4:c.1906A>G, NM_016631.4:c.1906A>C, NM_016631.3:c.1906A>T, NM_016631.3:c.1906A>G, NM_016631.3:c.1906A>C, NM_013329.4:c.1906A>T, NM_013329.4:c.1906A>G, NM_013329.4:c.1906A>C, NM_013329.3:c.1906A>T, NM_013329.3:c.1906A>G, NM_013329.3:c.1906A>C, XM_006724066.3:c.1906A>T, XM_006724066.3:c.1906A>G, XM_006724066.3:c.1906A>C, XM_006724066.2:c.1906A>T, XM_006724066.2:c.1906A>G, XM_006724066.2:c.1906A>C, XM_006724066.1:c.1906A>T, XM_006724066.1:c.1906A>G, XM_006724066.1:c.1906A>C, NR_027873.2:n.2010A>T, NR_027873.2:n.2010A>G, NR_027873.2:n.2010A>C, NR_027873.1:n.2113A>T, NR_027873.1:n.2113A>G, NR_027873.1:n.2113A>C, NM_145328.1:c.*387A>T, NM_145328.1:c.*387A>G, NM_145328.1:c.*387A>C, XM_047441051.1:c.1906A>T, XM_047441051.1:c.1906A>G, XM_047441051.1:c.1906A>C, XM_047441052.1:c.*149A>T, XM_047441052.1:c.*149A>G, XM_047441052.1:c.*149A>C, XP_011528106.1:p.Thr636Ser, XP_011528106.1:p.Thr636Ala, XP_011528106.1:p.Thr636Pro, NP_057715.2:p.Thr636Ser, NP_057715.2:p.Thr636Ala, NP_057715.2:p.Thr636Pro, NP_037461.2:p.Thr636Ser, NP_037461.2:p.Thr636Ala, NP_037461.2:p.Thr636Pro, XP_006724129.1:p.Thr636Ser, XP_006724129.1:p.Thr636Ala, XP_006724129.1:p.Thr636Pro, XP_047297007.1:p.Thr636Ser, XP_047297007.1:p.Thr636Ala, XP_047297007.1:p.Thr636Pro

Select item 14788894549.

rs1478889454 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32771330 (GRCh38)
21:34143641 (GRCh37)
Canonical SPDI:: NC_000021.9:32771329:C:T
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.32771330C>T, NC_000021.8:g.34143641C>T, NW_003315969.2:g.2252C>T, NW_003315969.1:g.2252C>T, XM_011529804.4:c.339G>A, XM_011529804.3:c.339G>A, XM_011529804.2:c.339G>A, XM_011529804.1:c.339G>A, NM_016631.4:c.339G>A, NM_016631.3:c.339G>A, NM_013329.4:c.339G>A, NM_013329.3:c.339G>A, XM_006724066.3:c.339G>A, XM_006724066.2:c.339G>A, XM_006724066.1:c.339G>A, NM_058191.3:c.339G>A, XM_047441051.1:c.339G>A, NR_027873.2:n.426G>A, NR_027873.1:n.529G>A, NM_058191.2:c.339G>A, NM_058191.1:c.339G>A, NM_145328.1:c.339G>A, XM_047441052.1:c.339G>A

Select item 147813370710.

rs1478133707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CCGCCG [Show Flanks]
Chromosome:: 21:32771421 (GRCh38)
21:34143733 (GRCh37)
Canonical SPDI:: NC_000021.9:32771421:CGCCGCCG:CGCCGCCGCCGCCG
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCCGCCGCCGCCG=0./0 (ALFA)
CGCCGC=0.000008/2 (TOPMED)
CGCCGC=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.32771424CCG[4], NC_000021.8:g.34143735CCG[4], NW_003315969.2:g.2346CCG[4], NW_003315969.1:g.2346CCG[4], XM_011529804.4:c.242GCG[4], XM_011529804.3:c.242GCG[4], XM_011529804.2:c.242GCG[4], XM_011529804.1:c.242GCG[4], NM_016631.4:c.242GCG[4], NM_016631.3:c.242GCG[4], NM_013329.4:c.242GCG[4], NM_013329.3:c.242GCG[4], XM_006724066.3:c.242GCG[4], XM_006724066.2:c.242GCG[4], XM_006724066.1:c.242GCG[4], NM_058191.3:c.242GCG[4], XM_047441051.1:c.242GCG[4], NR_027873.2:n.329GCG[4], NR_027873.1:n.432GCG[4], NM_058191.2:c.242GCG[4], NM_058191.1:c.242GCG[4], NM_145328.1:c.242GCG[4], XM_047441052.1:c.242GCG[4], XP_011528106.1:p.Gly81_Gly82dup, NP_057715.2:p.Gly81_Gly82dup, NP_037461.2:p.Gly81_Gly82dup, XP_006724129.1:p.Gly81_Gly82dup, XP_047297007.1:p.Gly81_Gly82dup, XP_047297008.1:p.Gly81_Gly82dup

Select item 147762659311.

rs1477626593 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:32771631 (GRCh38)
21:34143942 (GRCh37)
Canonical SPDI:: NC_000021.9:32771630:C:G
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.32771631C>G, NC_000021.8:g.34143942C>G, NW_003315969.2:g.2553C>G, NW_003315969.1:g.2553C>G, XM_011529804.4:c.38G>C, XM_011529804.3:c.38G>C, XM_011529804.2:c.38G>C, XM_011529804.1:c.38G>C, NM_016631.4:c.38G>C, NM_016631.3:c.38G>C, NM_013329.4:c.38G>C, NM_013329.3:c.38G>C, XM_006724066.3:c.38G>C, XM_006724066.2:c.38G>C, XM_006724066.1:c.38G>C, NM_058191.3:c.38G>C, XM_047441051.1:c.38G>C, NR_027873.2:n.125G>C, NR_027873.1:n.228G>C, NM_058191.2:c.38G>C, NM_058191.1:c.38G>C, NM_145328.1:c.38G>C, XM_047441052.1:c.38G>C, XP_011528106.1:p.Arg13Pro, NP_057715.2:p.Arg13Pro, NP_037461.2:p.Arg13Pro, XP_006724129.1:p.Arg13Pro, XP_047297007.1:p.Arg13Pro, XP_047297008.1:p.Arg13Pro

Select item 147568171212.

rs1475681712 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:32759894 (GRCh38)
21:34132205 (GRCh37)
Canonical SPDI:: NC_000021.9:32759893:G:T
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32759894G>T, NC_000021.8:g.34132205G>T, XM_011529804.4:c.1076C>A, XM_011529804.3:c.1076C>A, XM_011529804.2:c.1076C>A, XM_011529804.1:c.1076C>A, NM_016631.4:c.1076C>A, NM_016631.3:c.1076C>A, NM_013329.4:c.1076C>A, NM_013329.3:c.1076C>A, XM_006724066.3:c.1076C>A, XM_006724066.2:c.1076C>A, XM_006724066.1:c.1076C>A, NM_058191.3:c.1076C>A, NR_027873.2:n.1163C>A, NR_027873.1:n.1266C>A, NM_058191.2:c.1076C>A, NM_145328.1:c.1076C>A, XM_047441051.1:c.1076C>A, XM_047441052.1:c.1076C>A, NM_058191.1:c.1076C>A, XP_011528106.1:p.Ala359Asp, NP_057715.2:p.Ala359Asp, NP_037461.2:p.Ala359Asp, XP_006724129.1:p.Ala359Asp, XP_047297007.1:p.Ala359Asp, XP_047297008.1:p.Ala359Asp

Select item 147356049913.

rs1473560499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32751143 (GRCh38)
21:34123454 (GRCh37)
Canonical SPDI:: NC_000021.9:32751142:C:T
Gene:: PAXBP1 (Varview), LOC124905010 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32751143C>T, NC_000021.8:g.34123454C>T, XM_011529804.4:c.1583G>A, XM_011529804.3:c.1583G>A, XM_011529804.2:c.1583G>A, XM_011529804.1:c.1583G>A, NM_016631.4:c.1583G>A, NM_016631.3:c.1583G>A, NM_013329.4:c.1583G>A, NM_013329.3:c.1583G>A, XM_006724066.3:c.1583G>A, XM_006724066.2:c.1583G>A, XM_006724066.1:c.1583G>A, NR_027873.2:n.1687G>A, NR_027873.1:n.1790G>A, NM_145328.1:c.*64G>A, XM_047441051.1:c.1583G>A, XM_047441052.1:c.1583G>A, XP_011528106.1:p.Arg528His, NP_057715.2:p.Arg528His, NP_037461.2:p.Arg528His, XP_006724129.1:p.Arg528His, XP_047297007.1:p.Arg528His, XP_047297008.1:p.Arg528His

Select item 147291356414.

rs1472913564 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:32764402 (GRCh38)
21:34136713 (GRCh37)
Canonical SPDI:: NC_000021.9:32764401:T:G
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.32764402T>G, NC_000021.8:g.34136713T>G, XM_011529804.4:c.595A>C, XM_011529804.3:c.595A>C, XM_011529804.2:c.595A>C, XM_011529804.1:c.595A>C, NM_016631.4:c.595A>C, NM_016631.3:c.595A>C, NM_013329.4:c.595A>C, NM_013329.3:c.595A>C, XM_006724066.3:c.595A>C, XM_006724066.2:c.595A>C, XM_006724066.1:c.595A>C, NM_058191.3:c.595A>C, NR_027873.2:n.682A>C, NR_027873.1:n.785A>C, NM_058191.2:c.595A>C, NM_145328.1:c.595A>C, XM_047441051.1:c.595A>C, XM_047441052.1:c.595A>C, NM_058191.1:c.595A>C, XP_011528106.1:p.Lys199Gln, NP_057715.2:p.Lys199Gln, NP_037461.2:p.Lys199Gln, XP_006724129.1:p.Lys199Gln, XP_047297007.1:p.Lys199Gln, XP_047297008.1:p.Lys199Gln

Select item 147266095015.

rs1472660950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:32759807 (GRCh38)
21:34132118 (GRCh37)
Canonical SPDI:: NC_000021.9:32759806:A:G
Gene:: PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000021.9:g.32759807A>G, NC_000021.8:g.34132118A>G, XM_011529804.4:c.1163T>C, XM_011529804.3:c.1163T>C, XM_011529804.2:c.1163T>C, XM_011529804.1:c.1163T>C, NM_016631.4:c.1163T>C, NM_016631.3:c.1163T>C, NM_013329.4:c.1163T>C, NM_013329.3:c.1163T>C, XM_006724066.3:c.1163T>C, XM_006724066.2:c.1163T>C, XM_006724066.1:c.1163T>C, NM_058191.3:c.1163T>C, NR_027873.2:n.1250T>C, NR_027873.1:n.1353T>C, NM_058191.2:c.1163T>C, NM_145328.1:c.1163T>C, XM_047441051.1:c.1163T>C, XM_047441052.1:c.1163T>C, NM_058191.1:c.1163T>C, XP_011528106.1:p.Ile388Thr, NP_057715.2:p.Ile388Thr, NP_037461.2:p.Ile388Thr, XP_006724129.1:p.Ile388Thr, XP_047297007.1:p.Ile388Thr, XP_047297008.1:p.Ile388Thr

Select item 146985891416.

rs1469858914 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32771338 (GRCh38)
21:34143649 (GRCh37)
Canonical SPDI:: NC_000021.9:32771337:C:T
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
HGVS:: NC_000021.9:g.32771338C>T, NC_000021.8:g.34143649C>T, NW_003315969.2:g.2260C>T, NW_003315969.1:g.2260C>T, XM_011529804.4:c.331G>A, XM_011529804.3:c.331G>A, XM_011529804.2:c.331G>A, XM_011529804.1:c.331G>A, NM_016631.4:c.331G>A, NM_016631.3:c.331G>A, NM_013329.4:c.331G>A, NM_013329.3:c.331G>A, XM_006724066.3:c.331G>A, XM_006724066.2:c.331G>A, XM_006724066.1:c.331G>A, NM_058191.3:c.331G>A, XM_047441051.1:c.331G>A, NR_027873.2:n.418G>A, NR_027873.1:n.521G>A, NM_058191.2:c.331G>A, NM_058191.1:c.331G>A, NM_145328.1:c.331G>A, XM_047441052.1:c.331G>A, XP_011528106.1:p.Asp111Asn, NP_057715.2:p.Asp111Asn, NP_037461.2:p.Asp111Asn, XP_006724129.1:p.Asp111Asn, XP_047297007.1:p.Asp111Asn, XP_047297008.1:p.Asp111Asn

Select item 146965000617.

rs1469650006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32737311 (GRCh38)
21:34109622 (GRCh37)
Canonical SPDI:: NC_000021.9:32737310:G:A
Gene:: PAXBP1 (Varview), PAXBP1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32737311G>A, NC_000021.8:g.34109622G>A, NM_016631.4:c.2579C>T, NM_016631.3:c.2579C>T, XM_006724066.3:c.2474C>T, XM_006724066.2:c.2474C>T, XM_006724066.1:c.2474C>T, NR_027873.2:n.2683C>T, NR_027873.1:n.2786C>T, NM_145328.1:c.*1060C>T, NP_057715.2:p.Ala860Val, XP_006724129.1:p.Ala825Val

Select item 146828829718.

rs1468288297 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:32771579 (GRCh38)
21:34143890 (GRCh37)
Canonical SPDI:: NC_000021.9:32771578:C:T
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.00008/1 (ALFA)
HGVS:: NC_000021.9:g.32771579C>T, NC_000021.8:g.34143890C>T, NW_003315969.2:g.2501C>T, NW_003315969.1:g.2501C>T, XM_011529804.4:c.90G>A, XM_011529804.3:c.90G>A, XM_011529804.2:c.90G>A, XM_011529804.1:c.90G>A, NM_016631.4:c.90G>A, NM_016631.3:c.90G>A, NM_013329.4:c.90G>A, NM_013329.3:c.90G>A, XM_006724066.3:c.90G>A, XM_006724066.2:c.90G>A, XM_006724066.1:c.90G>A, NM_058191.3:c.90G>A, XM_047441051.1:c.90G>A, NR_027873.2:n.177G>A, NR_027873.1:n.280G>A, NM_058191.2:c.90G>A, NM_058191.1:c.90G>A, NM_145328.1:c.90G>A, XM_047441052.1:c.90G>A

Select item 146645205619.

rs1466452056 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:32743263 (GRCh38)
21:34115574 (GRCh37)
Canonical SPDI:: NC_000021.9:32743262:A:C
Gene:: PAXBP1 (Varview), PAXBP1-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,missense_variant,500B_downstream_variant,coding_sequence_variant,non_coding_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32743263A>C, NC_000021.8:g.34115574A>C, NM_016631.4:c.2319T>G, NM_016631.3:c.2319T>G, NM_013329.4:c.2319T>G, NM_013329.3:c.2319T>G, XM_006724066.3:c.2319T>G, XM_006724066.2:c.2319T>G, XM_006724066.1:c.2319T>G, NR_027873.2:n.2423T>G, NR_027873.1:n.2526T>G, NM_145328.1:c.*800T>G, NP_057715.2:p.Phe773Leu, NP_037461.2:p.Phe773Leu, XP_006724129.1:p.Phe773Leu

Select item 146526538120.

rs1465265381 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:32771565 (GRCh38)
21:34143876 (GRCh37)
Canonical SPDI:: NC_000021.9:32771564:G:A
Gene:: C21orf62-AS1 (Varview), PAXBP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: A=0.00002/1 (GnomAD_exomes)
HGVS:: NC_000021.9:g.32771565G>A, NC_000021.8:g.34143876G>A, NW_003315969.2:g.2487G>A, NW_003315969.1:g.2487G>A, XM_011529804.4:c.104C>T, XM_011529804.3:c.104C>T, XM_011529804.2:c.104C>T, XM_011529804.1:c.104C>T, NM_016631.4:c.104C>T, NM_016631.3:c.104C>T, NM_013329.4:c.104C>T, NM_013329.3:c.104C>T, XM_006724066.3:c.104C>T, XM_006724066.2:c.104C>T, XM_006724066.1:c.104C>T, NM_058191.3:c.104C>T, XM_047441051.1:c.104C>T, NR_027873.2:n.191C>T, NR_027873.1:n.294C>T, NM_058191.2:c.104C>T, NM_058191.1:c.104C>T, NM_145328.1:c.104C>T, XM_047441052.1:c.104C>T, XP_011528106.1:p.Pro35Leu, NP_057715.2:p.Pro35Leu, NP_037461.2:p.Pro35Leu, XP_006724129.1:p.Pro35Leu, XP_047297007.1:p.Pro35Leu, XP_047297008.1:p.Pro35Leu

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 712

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 712

Page of 36

Page of 36

Display Settings:

Supplemental Content

Find related data

Recent activity