SNP Links for Gene (Select 126382) - SNP

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Select item 14902884311.

rs1490288431 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:19202728 (GRCh38)
19:19313537 (GRCh37)
Canonical SPDI:: NC_000019.10:19202727:C:A,NC_000019.10:19202727:C:T
Gene:: NR2C2AP (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.19202728C>A, NC_000019.10:g.19202728C>T, NC_000019.9:g.19313537C>A, NC_000019.9:g.19313537C>T, NG_007432.1:g.15530C>A, NG_007432.1:g.15530C>T

Select item 14897763572.

rs1489776357 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:19202231 (GRCh38)
19:19313041 (GRCh37)
Canonical SPDI:: NC_000019.10:19202231:C:CC
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19202232dup, NC_000019.9:g.19313041dup, NG_007432.1:g.15034dup

Select item 14887816053.

rs1488781605 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:19201756 (GRCh38)
19:19312565 (GRCh37)
Canonical SPDI:: NC_000019.10:19201755:A:G
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19201756A>G, NC_000019.9:g.19312565A>G, NG_007432.1:g.14558A>G, NM_003721.4:c.*37A>G, NM_003721.3:c.*37A>G, NM_134440.3:c.*37A>G, NM_134440.2:c.*37A>G, NM_001278727.2:c.*37A>G, NM_001278727.1:c.*37A>G, NM_001278728.2:c.*37A>G, NM_001278728.1:c.*37A>G, NM_001370235.1:c.*37A>G, NM_001370238.1:c.*37A>G, NM_001370237.1:c.*37A>G, NM_001370233.1:c.*37A>G, NM_001370236.1:c.*37A>G, NM_001370234.1:c.*37A>G, XM_005260134.6:c.*37A>G, XM_005260134.5:c.*37A>G, XM_005260134.4:c.*37A>G, XM_005260134.3:c.*37A>G, XM_005260134.2:c.*37A>G, XM_005260134.1:c.*37A>G, NM_176880.6:c.*169T>C, NM_176880.5:c.*169T>C, NM_176880.4:c.*169T>C, XM_005260137.5:c.*37A>G, XM_005260137.4:c.*37A>G, XM_005260137.3:c.*37A>G, XM_005260137.2:c.*37A>G, XM_005260137.1:c.*37A>G, XM_047439590.1:c.*37A>G, XM_047439586.1:c.*37A>G, XM_047439589.1:c.*37A>G, XM_047439593.1:c.*37A>G, XM_047439588.1:c.*37A>G, XM_047439587.1:c.*37A>G, XM_047439591.1:c.*37A>G, XM_047439594.1:c.*37A>G, XM_047439592.1:c.*37A>G

Select item 14879362764.

rs1487936276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19202405 (GRCh38)
19:19313214 (GRCh37)
Canonical SPDI:: NC_000019.10:19202404:C:A
Gene:: NR2C2AP (Varview)
Functional Consequence:: intron_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_000019.10:g.19202405C>A, NC_000019.9:g.19313214C>A, NG_007432.1:g.15207C>A

Select item 14870954905.

rs1487095490 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:19201896 (GRCh38)
19:19312705 (GRCh37)
Canonical SPDI:: NC_000019.10:19201895:C:A
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19201896C>A, NC_000019.9:g.19312705C>A, NG_007432.1:g.14698C>A, NM_176880.6:c.*29G>T, NM_176880.5:c.*29G>T, NM_176880.4:c.*29G>T

Select item 14856059156.

rs1485605915 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19203304 (GRCh38)
19:19314113 (GRCh37)
Canonical SPDI:: NC_000019.10:19203303:G:A
Gene:: NR2C2AP (Varview)
Functional Consequence:: 5_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)
HGVS:: NC_000019.10:g.19203304G>A, NC_000019.9:g.19314113G>A, NG_007432.1:g.16106G>A, NG_057557.1:g.85G>A, NM_176880.6:c.-244C>T, NM_176880.5:c.-244C>T, NM_176880.4:c.-244C>T, NM_001300945.2:c.-244C>T, NM_001300945.1:c.-244C>T

Select item 14848360407.

rs1484836040 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:19204546 (GRCh38)
19:19315355 (GRCh37)
Canonical SPDI:: NC_000019.10:19204545:G:A,NC_000019.10:19204545:G:C
Gene:: NR2C2AP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00033/5 (ALFA)
A=0.000021/3 (GnomAD)
C=0.000248/4 (TOMMO)
A=0.001339/6 (Estonian)
HGVS:: NC_000019.10:g.19204546G>A, NC_000019.10:g.19204546G>C, NC_000019.9:g.19315355G>A, NC_000019.9:g.19315355G>C

Select item 14840037748.

rs1484003774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19202042 (GRCh38)
19:19312851 (GRCh37)
Canonical SPDI:: NC_000019.10:19202041:G:A
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: splice_acceptor_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19202042G>A, NC_000019.9:g.19312851G>A, NG_007432.1:g.14844G>A

Select item 14835250089.

rs1483525008 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 19:19202879 (GRCh38)
19:19313688 (GRCh37)
Canonical SPDI:: NC_000019.10:19202878:A:G,NC_000019.10:19202878:A:T
Gene:: NR2C2AP (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/1 (ExAC)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.19202879A>G, NC_000019.10:g.19202879A>T, NC_000019.9:g.19313688A>G, NC_000019.9:g.19313688A>T, NG_007432.1:g.15681A>G, NG_007432.1:g.15681A>T, NM_176880.6:c.41T>C, NM_176880.6:c.41T>A, NM_176880.5:c.41T>C, NM_176880.5:c.41T>A, NM_176880.4:c.41T>C, NM_176880.4:c.41T>A, NM_001300945.2:c.41T>C, NM_001300945.2:c.41T>A, NM_001300945.1:c.41T>C, NM_001300945.1:c.41T>A, NP_795361.1:p.Val14Ala, NP_795361.1:p.Val14Glu, NP_001287874.1:p.Val14Ala, NP_001287874.1:p.Val14Glu

Select item 148334321910.

rs1483343219 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19204724 (GRCh38)
19:19315533 (GRCh37)
Canonical SPDI:: NC_000019.10:19204723:G:A
Gene:: NR2C2AP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.19204724G>A, NC_000019.9:g.19315533G>A

Select item 148233097211.

rs1482330972 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:19205395 (GRCh38)
19:19316204 (GRCh37)
Canonical SPDI:: NC_000019.10:19205394:G:A
Gene:: NR2C2AP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.19205395G>A, NC_000019.9:g.19316204G>A

Select item 148181631712.

rs1481816317 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19204175 (GRCh38)
19:19314984 (GRCh37)
Canonical SPDI:: NC_000019.10:19204174:G:C
Gene:: NR2C2AP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.19204175G>C, NC_000019.9:g.19314984G>C

Select item 148076979813.

rs1480769798 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:19203119 (GRCh38)
19:19313928 (GRCh37)
Canonical SPDI:: NC_000019.10:19203118:G:A,NC_000019.10:19203118:G:C
Gene:: NR2C2AP (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19203119G>A, NC_000019.10:g.19203119G>C, NC_000019.9:g.19313928G>A, NC_000019.9:g.19313928G>C, NG_007432.1:g.15921G>A, NG_007432.1:g.15921G>C, NM_176880.6:c.-59C>T, NM_176880.6:c.-59C>G, NM_176880.5:c.-59C>T, NM_176880.5:c.-59C>G, NM_176880.4:c.-59C>T, NM_176880.4:c.-59C>G, NM_001300945.2:c.-59C>T, NM_001300945.2:c.-59C>G, NM_001300945.1:c.-59C>T, NM_001300945.1:c.-59C>G

Select item 148048119814.

rs1480481198 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:19203024 (GRCh38)
19:19313833 (GRCh37)
Canonical SPDI:: NC_000019.10:19203023:T:G
Gene:: NR2C2AP (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19203024T>G, NC_000019.9:g.19313833T>G, NG_007432.1:g.15826T>G, NM_176880.6:c.37A>C, NM_176880.5:c.37A>C, NM_176880.4:c.37A>C, NM_001300945.2:c.37A>C, NM_001300945.1:c.37A>C

Select item 148037156715.

rs1480371567 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:19201972 (GRCh38)
19:19312781 (GRCh37)
Canonical SPDI:: NC_000019.10:19201971:C:G
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: downstream_transcript_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.19201972C>G, NC_000019.9:g.19312781C>G, NG_007432.1:g.14774C>G, NM_176880.6:c.373G>C, NM_176880.5:c.373G>C, NM_176880.4:c.373G>C, NM_001300945.2:c.373G>C, NM_001300945.1:c.373G>C, NP_795361.1:p.Gly125Arg, NP_001287874.1:p.Gly125Arg

Select item 148034900616.

rs1480349006 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 19:19202479 (GRCh38)
19:19313288 (GRCh37)
Canonical SPDI:: NC_000019.10:19202478:A:
Gene:: NR2C2AP (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.19202479del, NC_000019.9:g.19313288del, NG_007432.1:g.15281del, NM_176880.6:c.226del, NM_176880.5:c.226del, NM_176880.4:c.226del, NM_001300945.2:c.226del, NM_001300945.1:c.226del, NP_795361.1:p.Cys76fs, NP_001287874.1:p.Cys76fs

Select item 147933452017.

rs1479334520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19203800 (GRCh38)
19:19314609 (GRCh37)
Canonical SPDI:: NC_000019.10:19203799:C:T
Gene:: NR2C2AP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19203800C>T, NC_000019.9:g.19314609C>T, NG_007432.1:g.16602C>T

Select item 147891555018.

rs1478915550 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:19203210 (GRCh38)
19:19314019 (GRCh37)
Canonical SPDI:: NC_000019.10:19203209:C:G,NC_000019.10:19203209:C:T
Gene:: NR2C2AP (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/2 (TOMMO)
HGVS:: NC_000019.10:g.19203210C>G, NC_000019.10:g.19203210C>T, NC_000019.9:g.19314019C>G, NC_000019.9:g.19314019C>T, NG_007432.1:g.16012C>G, NG_007432.1:g.16012C>T, NM_176880.6:c.-150G>C, NM_176880.6:c.-150G>A, NM_176880.5:c.-150G>C, NM_176880.5:c.-150G>A, NM_176880.4:c.-150G>C, NM_176880.4:c.-150G>A, NM_001300945.2:c.-150G>C, NM_001300945.2:c.-150G>A, NM_001300945.1:c.-150G>C, NM_001300945.1:c.-150G>A

Select item 147816743719.

rs1478167437 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:19202214 (GRCh38)
19:19313023 (GRCh37)
Canonical SPDI:: NC_000019.10:19202213:G:C
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.19202214G>C, NC_000019.9:g.19313023G>C, NG_007432.1:g.15016G>C

Select item 147727165320.

rs1477271653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:19201552 (GRCh38)
19:19312361 (GRCh37)
Canonical SPDI:: NC_000019.10:19201551:C:T
Gene:: RFXANK (Varview), NR2C2AP (Varview)
Functional Consequence:: 3_prime_UTR_variant,synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.19201552C>T, NC_000019.9:g.19312361C>T, NG_007432.1:g.14354C>T, NM_176880.6:c.*373G>A, NM_176880.5:c.*373G>A, NM_176880.4:c.*373G>A, NM_001300945.2:c.426G>A, NM_001300945.1:c.426G>A

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