rs2243668

Homo sapiens
G>A
NRP1 : Intron Variant
Check p-value
SNV (Single Nucleotide Variation)
A=0109 (3266/29954,GnomAD)
A=0093 (2722/29118,TOPMED)
A=0160 (801/5008,1000G)
A=0123 (473/3854,ALSPAC)
A=0120 (445/3708,TWINSUK)
chr10:33274965 (GRCh38.p7) (10p11.22)
AD
GWASCatalog
1   publication(s)
See rs on genome
0 Promoter around

Genomic Coordinates

Sequence Name Change(s)
GRCh38.p7 chr 10NC_000010.11:g.33274965G>A
GRCh37.p13 chr 10NC_000010.10:g.33563893G>A
NRP1 RefSeqGeneNG_030328.1:g.64941C>T

Gene: NRP1, neuropilin 1(minus strand)

Molecule type Change Amino acid[Codon] SO Term
NRP1 transcript variant 2NM_001024628.2:c.N/AIntron Variant
NRP1 transcript variant 3NM_001024629.2:c.N/AIntron Variant
NRP1 transcript variant 4NM_001244972.1:c.N/AIntron Variant
NRP1 transcript variant 5NM_001244973.1:c.N/AIntron Variant
NRP1 transcript variant 1NM_003873.5:c.N/AIntron Variant
NRP1 transcript variant 6NR_045259.1:n.N/AIntron Variant
NRP1 transcript variant X1XM_006717521.1:c.N/AIntron Variant
NRP1 transcript variant X2XM_006717522.1:c.N/AIntron Variant
NRP1 transcript variant X3XM_006717523.2:c.N/AIntron Variant
NRP1 transcript variant X5XM_006717524.1:c.N/AIntron Variant
NRP1 transcript variant X6XM_006717525.1:c.N/AIntron Variant
NRP1 transcript variant X8XM_006717526.1:c.N/AIntron Variant
NRP1 transcript variant X9XM_011519755.2:c.N/AIntron Variant
NRP1 transcript variant X10XM_011519756.1:c.N/AIntron Variant
NRP1 transcript variant X4XM_017016865.1:c.N/AIntron Variant
NRP1 transcript variant X7XM_017016866.1:c.N/AIntron Variant

Population Frequency

Study Population Group Sample # Ref Allele Alt Allele
1000GenomesAfricanSub1322G=0.952A=0.048
1000GenomesAmericanSub694G=0.870A=0.130
1000GenomesEast AsianSub1008G=0.707A=0.293
1000GenomesEuropeSub1006G=0.886A=0.114
1000GenomesGlobalStudy-wide5008G=0.840A=0.160
1000GenomesSouth AsianSub978G=0.760A=0.240
The Avon Longitudinal Study of Parents and ChildrenPARENT AND CHILD COHORTStudy-wide3854G=0.877A=0.123
The Genome Aggregation DatabaseAfricanSub8710G=0.942A=0.058
The Genome Aggregation DatabaseAmericanSub838G=0.870A=0.130
The Genome Aggregation DatabaseEast AsianSub1616G=0.705A=0.295
The Genome Aggregation DatabaseEuropeSub18488G=0.884A=0.115
The Genome Aggregation DatabaseGlobalStudy-wide29954G=0.891A=0.109
The Genome Aggregation DatabaseOtherSub302G=0.860A=0.140
Trans-Omics for Precision MedicineGlobalStudy-wide29118G=0.906A=0.093
UK 10K study - TwinsTWIN COHORTStudy-wide3708G=0.880A=0.120
PMID Title Author Journal
29071344Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression.Zhou HJAMA Psychiatry

P-Value

SNP ID p-value Traits Study
rs22436689E-06alcohol dependence29071344

eQTL of rs2243668 in Brain tissues (GTEx Analysis Release V7)

Position (v37) eGene GeneID Variant p-value TSS Tissue
There is no eQTL annotation for this SNP

meQTL of rs2243668 in Fetal Brain

Probe ID Position Gene beta p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome Start End Region Distance ( -/+ : Up/Downstream )
chr103356105233561395E067-2498
chr103356142733561536E067-2357
chr103356154133561591E067-2302
chr103356161833562993E067-900
chr103357612133576470E06712228
chr103357653233577001E06712639
chr103352957433529856E068-34037
chr103356073133560928E068-2965
chr103356105233561395E068-2498
chr103356142733561536E068-2357
chr103356154133561591E068-2302
chr103356073133560928E069-2965
chr103356105233561395E069-2498
chr103356142733561536E069-2357
chr103356154133561591E069-2302
chr103356161833562993E069-900
chr103359022033590270E06926327
chr103359036233590611E06926469
chr103359110433591174E06927211
chr103359343533593544E06929542
chr103352371333524734E070-39159
chr103354867633548774E070-15119
chr103354880233548901E070-14992
chr103354891433549053E070-14840
chr103354905933549143E070-14750
chr103354937833549881E070-14012
chr103354991033550292E070-13601
chr103356105233561395E070-2498
chr103356142733561536E070-2357
chr103356154133561591E070-2302
chr103356161833562993E070-900
chr103357766933577719E07013776
chr103357805633578185E07014163
chr103357822433578305E07014331
chr103357838633578719E07014493
chr103357912733579177E07015234
chr103354789533548435E071-15458
chr103355997333560585E071-3308
chr103356073133560928E071-2965
chr103356105233561395E071-2498
chr103356142733561536E071-2357
chr103356154133561591E071-2302
chr103357519933575307E07111306
chr103357543433575534E07111541
chr103357556933575751E07111676
chr103358215333582306E07118260
chr103358231433582468E07118421
chr103358251933582774E07118626
chr103358692933587262E07123036
chr103359558333596401E07131690
chr103354789533548435E072-15458
chr103356073133560928E072-2965
chr103356105233561395E072-2498
chr103356142733561536E072-2357
chr103356154133561591E072-2302
chr103356161833562993E072-900
chr103356073133560928E073-2965
chr103356105233561395E073-2498
chr103356142733561536E073-2357
chr103356154133561591E073-2302
chr103357519933575307E07311306
chr103357543433575534E07311541
chr103357556933575751E07311676
chr103360581933605879E07341926
chr103356105233561395E074-2498
chr103356142733561536E074-2357
chr103356154133561591E074-2302
chr103356161833562993E074-900
chr103354656333547126E081-16767
chr103354738333547492E081-16401
chr103356105233561395E081-2498
chr103356142733561536E081-2357
chr103356154133561591E081-2302
chr103356161833562993E081-900
chr103356307733563179E081-714
chr103356318233563295E081-598
chr103356610033566409E0812207
chr103356641433566501E0812521
chr103356651133566586E0812618
chr103356689933566949E0813006
chr103356701433567174E0813121
chr103357912733579177E08115234
chr103357936333579439E08115470
chr103358231433582468E08118421
chr103358251933582774E08118626
chr103358928033589414E08125387
chr103358952833589648E08125635
chr103358986033589900E08125967
chr103359022033590270E08126327
chr103359036233590611E08126469
chr103359343533593544E08129542
chr103359356133594020E08129668
chr103359418133594239E08130288
chr103359426333594313E08130370
chr103361252433612604E08148631
chr103361317433613275E08149281
chr103361379433613859E08149901
chr103351814433518279E082-45614
chr103352371333524734E082-39159
chr103354656333547126E082-16767
chr103354738333547492E082-16401
chr103356073133560928E082-2965
chr103356105233561395E082-2498
chr103356161833562993E082-900
chr103356307733563179E082-714
chr103356318233563295E082-598
chr103356343033563602E082-291
chr103357974633580732E08215853
chr103359343533593544E08229542
chr103359356133594020E08229668
chr103361239933612522E08248506
chr103361252433612604E08248631
chr103361274233612937E08248849
chr103361317433613275E08249281