SNP Links for Nucleotide (Select 1024846774) - SNP

Links from Nucleotide

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Select item 14908152991.

rs1490815299 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10114735 (GRCh38)
19:10225411 (GRCh37)
Canonical SPDI:: NC_000019.10:10114734:A:G
Gene:: P2RY11 (Varview), EIF3G (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000019.10:g.10114735A>G, NC_000019.9:g.10225411A>G, NG_051197.1:g.10190T>C, NG_047007.1:g.8215A>G, NM_002566.5:c.1122A>G, NM_002566.4:c.1122A>G, NM_001040664.3:c.2382A>G, NM_001040664.2:c.2382A>G, NM_001198690.2:c.*881A>G, NM_001198690.1:c.*881A>G

Select item 14904656352.

rs1490465635 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:10109458 (GRCh38)
19:10220134 (GRCh37)
Canonical SPDI:: NC_000019.10:10109457:A:
Gene:: PPAN (Varview), PPAN-P2RY11 (Varview), SNORD105B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10109458del, NC_000019.9:g.10220134del, NG_051640.1:g.8236del, NG_047007.1:g.2938del

Select item 14904380513.

rs1490438051 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:10113083 (GRCh38)
19:10223759 (GRCh37)
Canonical SPDI:: NC_000019.10:10113082:G:C
Gene:: P2RY11 (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: C=0.003/2 (NorthernSweden)
HGVS:: NC_000019.10:g.10113083G>C, NC_000019.9:g.10223759G>C, NG_051640.1:g.11861G>C, NG_051197.1:g.11842C>G, NG_047007.1:g.6563G>C

Select item 14901248424.

rs1490124842 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:10110720 (GRCh38)
19:10221396 (GRCh37)
Canonical SPDI:: NC_000019.10:10110719:A:T
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.10110720A>T, NC_000019.9:g.10221396A>T, NG_051640.1:g.9498A>T, NM_020230.7:c.1055A>T, NM_020230.6:c.1055A>T, NM_020230.5:c.1055A>T, NM_001346141.1:c.896A>T, NM_001346139.1:c.1052A>T, NG_047007.1:g.4200A>T, NM_001040664.3:c.1055A>T, NM_001040664.2:c.1055A>T, NM_001198690.2:c.1055A>T, NM_001198690.1:c.1055A>T, NM_001346140.1:c.1052A>T, NP_064615.3:p.Lys352Met, NP_001333070.1:p.Lys299Met, NP_001333068.1:p.Lys351Met, NP_001035754.1:p.Lys352Met, NP_001185619.1:p.Lys352Met

Select item 14896906765.

rs1489690676 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10110721 (GRCh38)
19:10221397 (GRCh37)
Canonical SPDI:: NC_000019.10:10110720:G:A
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10110721G>A, NC_000019.9:g.10221397G>A, NG_051640.1:g.9499G>A, NM_020230.7:c.1056G>A, NM_020230.6:c.1056G>A, NM_020230.5:c.1056G>A, NM_001346141.1:c.897G>A, NM_001346139.1:c.1053G>A, NG_047007.1:g.4201G>A, NM_001040664.3:c.1056G>A, NM_001040664.2:c.1056G>A, NM_001198690.2:c.1056G>A, NM_001198690.1:c.1056G>A, NM_001346140.1:c.1053G>A

Select item 14895693826.

rs1489569382 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10106564 (GRCh38)
19:10217240 (GRCh37)
Canonical SPDI:: NC_000019.10:10106563:A:G
Gene:: PPAN (Varview), ANGPTL6 (Varview), SNORD105 (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.10106564A>G, NC_000019.9:g.10217240A>G, NG_051640.1:g.5342A>G, NM_020230.7:c.82A>G, NM_020230.6:c.82A>G, NM_020230.5:c.82A>G, NM_001346141.1:c.-78A>G, NM_001346139.1:c.82A>G, NG_047007.1:g.44A>G, NM_001040664.3:c.82A>G, NM_001040664.2:c.82A>G, NM_001198690.2:c.82A>G, NM_001198690.1:c.82A>G, NM_001346140.1:c.82A>G, NP_064615.3:p.Asn28Asp, NP_001333068.1:p.Asn28Asp, NP_001035754.1:p.Asn28Asp, NP_001185619.1:p.Asn28Asp

Select item 14890770987.

rs1489077098 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:10109708 (GRCh38)
19:10220384 (GRCh37)
Canonical SPDI:: NC_000019.10:10109707:G:A,NC_000019.10:10109707:G:C
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview), SNORD105B (Varview)
Functional Consequence:: 2KB_upstream_variant,splice_donor_variant,upstream_transcript_variant
HGVS:: NC_000019.10:g.10109708G>A, NC_000019.10:g.10109708G>C, NC_000019.9:g.10220384G>A, NC_000019.9:g.10220384G>C, NG_051640.1:g.8486G>A, NG_051640.1:g.8486G>C, NG_047007.1:g.3188G>A, NG_047007.1:g.3188G>C

Select item 14890050038.

rs1489005003 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10111586 (GRCh38)
19:10222262 (GRCh37)
Canonical SPDI:: NC_000019.10:10111585:A:G
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.10111586A>G, NC_000019.9:g.10222262A>G, NG_051640.1:g.10364A>G, NM_020230.7:c.*421A>G, NM_020230.6:c.*421A>G, NM_001346141.1:c.*421A>G, NM_001346139.1:c.*421A>G, NG_047007.1:g.5066A>G, NM_002566.4:c.-136A>G, NM_001346140.1:c.*421A>G

Select item 14887125429.

rs1488712542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:10113680 (GRCh38)
19:10224356 (GRCh37)
Canonical SPDI:: NC_000019.10:10113679:C:G,NC_000019.10:10113679:C:T
Gene:: P2RY11 (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.10113680C>G, NC_000019.10:g.10113680C>T, NC_000019.9:g.10224356C>G, NC_000019.9:g.10224356C>T, NG_051640.1:g.12458C>G, NG_051640.1:g.12458C>T, NG_051197.1:g.11245G>C, NG_051197.1:g.11245G>A, NG_047007.1:g.7160C>G, NG_047007.1:g.7160C>T, NM_002566.5:c.67C>G, NM_002566.5:c.67C>T, NM_002566.4:c.67C>G, NM_002566.4:c.67C>T, NG_063749.1:g.108C>G, NG_063749.1:g.108C>T, NM_001040664.3:c.1327C>G, NM_001040664.3:c.1327C>T, NM_001040664.2:c.1327C>G, NM_001040664.2:c.1327C>T, NM_001198690.2:c.1389C>G, NM_001198690.2:c.1389C>T, NM_001198690.1:c.1389C>G, NM_001198690.1:c.1389C>T, NP_002557.2:p.Leu23Val, NP_002557.2:p.Leu23Phe, NP_001035754.1:p.Leu443Val, NP_001035754.1:p.Leu443Phe, NP_001185619.1:p.Asn463Lys

Select item 148852589810.

rs1488525898 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:10113241 (GRCh38)
19:10223917 (GRCh37)
Canonical SPDI:: NC_000019.10:10113240:AG:
Gene:: P2RY11 (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10113241_10113242del, NC_000019.9:g.10223917_10223918del, NG_051640.1:g.12019_12020del, NG_051197.1:g.11683_11684del, NG_047007.1:g.6721_6722del

Select item 148846469011.

rs1488464690 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:10115655 (GRCh38)
19:10226331 (GRCh37)
Canonical SPDI:: NC_000019.10:10115654:A:G
Gene:: P2RY11 (Varview), EIF3G (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10115655A>G, NC_000019.9:g.10226331A>G, NG_051197.1:g.9270T>C, NG_047007.1:g.9135A>G

Select item 148814881712.

rs1488148817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10117262 (GRCh38)
19:10227938 (GRCh37)
Canonical SPDI:: NC_000019.10:10117261:T:C
Gene:: EIF3G (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.10117262T>C, NC_000019.9:g.10227938T>C, NG_051197.1:g.7663A>G, NG_047007.1:g.10742T>C

Select item 148809258013.

rs1488092580 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:10108073 (GRCh38)
19:10218749 (GRCh37)
Canonical SPDI:: NC_000019.10:10108072:T:C
Gene:: PPAN (Varview), ANGPTL6 (Varview), SNORD105 (Varview), PPAN-P2RY11 (Varview), SNORD105B (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10108073T>C, NC_000019.9:g.10218749T>C, NG_051640.1:g.6851T>C, NM_020230.7:c.452T>C, NM_020230.6:c.452T>C, NM_020230.5:c.452T>C, NM_001346141.1:c.293T>C, NM_001346139.1:c.452T>C, NG_047007.1:g.1553T>C, NM_001040664.3:c.452T>C, NM_001040664.2:c.452T>C, NM_001198690.2:c.452T>C, NM_001198690.1:c.452T>C, NM_001346140.1:c.452T>C, NP_064615.3:p.Met151Thr, NP_001333070.1:p.Met98Thr, NP_001333068.1:p.Met151Thr, NP_001035754.1:p.Met151Thr, NP_001185619.1:p.Met151Thr

Select item 148796172514.

rs1487961725 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10115723 (GRCh38)
19:10226399 (GRCh37)
Canonical SPDI:: NC_000019.10:10115722:G:A
Gene:: P2RY11 (Varview), EIF3G (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: synonymous_variant,downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10115723G>A, NC_000019.9:g.10226399G>A, NG_051197.1:g.9202C>T, NM_003755.5:c.801C>T, NM_003755.4:c.801C>T, NM_003755.3:c.801C>T, NG_047007.1:g.9203G>A

Select item 148794137415.

rs1487941374 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:10106911 (GRCh38)
19:10217587 (GRCh37)
Canonical SPDI:: NC_000019.10:10106910:G:A
Gene:: PPAN (Varview), ANGPTL6 (Varview), SNORD105 (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.10106911G>A, NC_000019.9:g.10217587G>A, NG_051640.1:g.5689G>A, NG_047007.1:g.391G>A

Select item 148782514116.

rs1487825141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:10114731 (GRCh38)
19:10225407 (GRCh37)
Canonical SPDI:: NC_000019.10:10114730:G:A,NC_000019.10:10114730:G:C
Gene:: P2RY11 (Varview), EIF3G (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000025/6 (GnomAD_exomes)
HGVS:: NC_000019.10:g.10114731G>A, NC_000019.10:g.10114731G>C, NC_000019.9:g.10225407G>A, NC_000019.9:g.10225407G>C, NG_051197.1:g.10194C>T, NG_051197.1:g.10194C>G, NG_047007.1:g.8211G>A, NG_047007.1:g.8211G>C, NM_002566.5:c.1118G>A, NM_002566.5:c.1118G>C, NM_002566.4:c.1118G>A, NM_002566.4:c.1118G>C, NM_001040664.3:c.2378G>A, NM_001040664.3:c.2378G>C, NM_001040664.2:c.2378G>A, NM_001040664.2:c.2378G>C, NM_001198690.2:c.*877G>A, NM_001198690.2:c.*877G>C, NM_001198690.1:c.*877G>A, NM_001198690.1:c.*877G>C, NP_002557.2:p.Ser373Asn, NP_002557.2:p.Ser373Thr, NP_001035754.1:p.Ser793Asn, NP_001035754.1:p.Ser793Thr

Select item 148748508417.

rs1487485084 has merged into rs1304271167 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:10108976 (GRCh38)
19:10219652 (GRCh37)
Canonical SPDI:: NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:10108963:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PPAN (Varview), PPAN-P2RY11 (Varview), SNORD105B (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.10108976_10108979del, NC_000019.10:g.10108977_10108979del, NC_000019.10:g.10108978_10108979del, NC_000019.10:g.10108979del, NC_000019.10:g.10108979dup, NC_000019.10:g.10108978_10108979dup, NC_000019.10:g.10108977_10108979dup, NC_000019.10:g.10108976_10108979dup, NC_000019.10:g.10108975_10108979dup, NC_000019.10:g.10108973_10108979dup, NC_000019.10:g.10108979_10108980insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.10108979_10108980insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10219652_10219655del, NC_000019.9:g.10219653_10219655del, NC_000019.9:g.10219654_10219655del, NC_000019.9:g.10219655del, NC_000019.9:g.10219655dup, NC_000019.9:g.10219654_10219655dup, NC_000019.9:g.10219653_10219655dup, NC_000019.9:g.10219652_10219655dup, NC_000019.9:g.10219651_10219655dup, NC_000019.9:g.10219649_10219655dup, NC_000019.9:g.10219655_10219656insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.10219655_10219656insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_051640.1:g.7754_7757del, NG_051640.1:g.7755_7757del, NG_051640.1:g.7756_7757del, NG_051640.1:g.7757del, NG_051640.1:g.7757dup, NG_051640.1:g.7756_7757dup, NG_051640.1:g.7755_7757dup, NG_051640.1:g.7754_7757dup, NG_051640.1:g.7753_7757dup, NG_051640.1:g.7751_7757dup, NG_051640.1:g.7757_7758insTTTTTTTTTTTTTTTTTTTTTTT, NG_051640.1:g.7757_7758insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_047007.1:g.2456_2459del, NG_047007.1:g.2457_2459del, NG_047007.1:g.2458_2459del, NG_047007.1:g.2459del, NG_047007.1:g.2459dup, NG_047007.1:g.2458_2459dup, NG_047007.1:g.2457_2459dup, NG_047007.1:g.2456_2459dup, NG_047007.1:g.2455_2459dup, NG_047007.1:g.2453_2459dup, NG_047007.1:g.2459_2460insTTTTTTTTTTTTTTTTTTTTTTT, NG_047007.1:g.2459_2460insTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148736486418.

rs1487364864 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:10111866 (GRCh38)
19:10222542 (GRCh37)
Canonical SPDI:: NC_000019.10:10111865:C:T
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.10111866C>T, NC_000019.9:g.10222542C>T, NG_051640.1:g.10644C>T, NM_020230.7:c.*701C>T, NM_020230.6:c.*701C>T, NM_001346141.1:c.*701C>T, NM_001346139.1:c.*701C>T, NG_047007.1:g.5346C>T, NM_001346140.1:c.*701C>T

Select item 148736311219.

rs1487363112 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:10111440 (GRCh38)
19:10222116 (GRCh37)
Canonical SPDI:: NC_000019.10:10111439:G:A,NC_000019.10:10111439:G:T
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/3 (ALFA)
A=0.00067/3 (Estonian)
HGVS:: NC_000019.10:g.10111440G>A, NC_000019.10:g.10111440G>T, NC_000019.9:g.10222116G>A, NC_000019.9:g.10222116G>T, NG_051640.1:g.10218G>A, NG_051640.1:g.10218G>T, NM_020230.7:c.*275G>A, NM_020230.7:c.*275G>T, NM_020230.6:c.*275G>A, NM_020230.6:c.*275G>T, NM_001346141.1:c.*275G>A, NM_001346141.1:c.*275G>T, NM_001346139.1:c.*275G>A, NM_001346139.1:c.*275G>T, NG_047007.1:g.4920G>A, NG_047007.1:g.4920G>T, NM_001346140.1:c.*275G>A, NM_001346140.1:c.*275G>T

Select item 148718103820.

rs1487181038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 19:10111269 (GRCh38)
19:10221945 (GRCh37)
Canonical SPDI:: NC_000019.10:10111268:C:A,NC_000019.10:10111268:C:G
Gene:: P2RY11 (Varview), PPAN (Varview), PPAN-P2RY11 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
G=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.10111269C>A, NC_000019.10:g.10111269C>G, NC_000019.9:g.10221945C>A, NC_000019.9:g.10221945C>G, NG_051640.1:g.10047C>A, NG_051640.1:g.10047C>G, NM_020230.7:c.*104C>A, NM_020230.7:c.*104C>G, NM_020230.6:c.*104C>A, NM_020230.6:c.*104C>G, NM_020230.5:c.*104C>A, NM_020230.5:c.*104C>G, NM_001346141.1:c.*104C>A, NM_001346141.1:c.*104C>G, NM_001346139.1:c.*104C>A, NM_001346139.1:c.*104C>G, NG_047007.1:g.4749C>A, NG_047007.1:g.4749C>G, NM_001346140.1:c.*104C>A, NM_001346140.1:c.*104C>G

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